From 164aaf17ecee6f03eb5e16fa84081bd02e9e9cb0 Mon Sep 17 00:00:00 2001 From: Kevin Schaper Date: Wed, 17 Jul 2024 12:34:35 -0700 Subject: [PATCH] Add directionality param to semsim search api (#762) This passes the new directionality param back to semsimian-server (and then to semsimian). No change to the UI yet. --- .../src/monarch_py/api/additional_models.py | 9 + backend/src/monarch_py/api/semsim.py | 8 +- .../src/monarch_py/service/semsim_service.py | 5 +- .../src/monarch_py/service/solr_service.py | 9 +- backend/tests/api/test_semsim_router.py | 23 +- backend/tests/fixtures/association_counts.py | 4 +- .../fixtures/association_counts_response.py | 6020 ++- .../tests/fixtures/association_response.py | 6000 ++- backend/tests/fixtures/association_table.py | 1709 +- .../fixtures/association_table_response.py | 1689 +- backend/tests/fixtures/associations.py | 6180 +++- .../tests/fixtures/associations_compact.py | 238 +- backend/tests/fixtures/autocomplete.py | 18857 +++++----- .../tests/fixtures/autocomplete_response.py | 18837 +++++----- backend/tests/fixtures/histopheno.py | 26 +- backend/tests/fixtures/histopheno_response.py | 30 +- backend/tests/fixtures/mapping_response.py | 74 +- backend/tests/fixtures/mappings.py | 74 +- backend/tests/fixtures/node.py | 60 +- backend/tests/fixtures/object_formatted.py | 162 +- backend/tests/fixtures/search.py | 30818 ++++++++-------- backend/tests/fixtures/search_response.py | 30796 +++++++-------- frontend/fixtures/association-counts.json | 12 +- frontend/fixtures/association-table.json | 1783 +- frontend/fixtures/associations-compact.json | 238 +- frontend/fixtures/associations.json | 6460 +++- frontend/fixtures/autocomplete.json | 18781 +++++----- frontend/fixtures/histopheno.json | 34 +- frontend/fixtures/mappings.json | 74 +- frontend/fixtures/node.json | 88 +- .../phenotype-explorer-multi-compare.json | 216 +- .../fixtures/phenotype-explorer-search.json | 1432 +- frontend/fixtures/search.json | 30780 +++++++-------- frontend/src/pages/metadata.json | 12 +- scripts/generate_fixtures.py | 3 +- 35 files changed, 96251 insertions(+), 85290 deletions(-) diff --git a/backend/src/monarch_py/api/additional_models.py b/backend/src/monarch_py/api/additional_models.py index 1542f92f5..f33ea8aca 100644 --- a/backend/src/monarch_py/api/additional_models.py +++ b/backend/src/monarch_py/api/additional_models.py @@ -38,6 +38,12 @@ class SemsimSearchGroup(Enum): MONDO = "Human Diseases" +class SemsimDirectionality(str, Enum): + BIDIRECTIONAL = "bidirectional" + SUBJECT_TO_OBJECT = "subject_to_object" + OBJECT_TO_SUBJECT = "object_to_subject" + + class SemsimCompareRequest(BaseModel): subjects: List[str] = Field(..., title="List of subjects for comparison") objects: List[str] = Field(..., title="List of objects for comparison") @@ -60,6 +66,9 @@ class SemsimSearchRequest(BaseModel): termset: List[str] = Field(..., title="Termset to search") group: SemsimSearchGroup = Field(..., title="Group of entities to search within (e.g. Human Genes)") metric: SemsimMetric = Field(SemsimMetric.ANCESTOR_INFORMATION_CONTENT, title="Similarity metric to use") + directionality: SemsimDirectionality = ( + Query(SemsimDirectionality.BIDIRECTIONAL, title="Directionality of the search"), + ) limit: Optional[int] = Field(10, title="Limit the number of results", ge=1, le=50) diff --git a/backend/src/monarch_py/api/semsim.py b/backend/src/monarch_py/api/semsim.py index 3366be16c..f4bf7c23c 100644 --- a/backend/src/monarch_py/api/semsim.py +++ b/backend/src/monarch_py/api/semsim.py @@ -6,6 +6,7 @@ SemsimSearchRequest, SemsimSearchGroup, SemsimMultiCompareRequest, + SemsimDirectionality, ) from monarch_py.api.config import semsimian, solr from monarch_py.api.utils.similarity_utils import parse_similarity_prefix @@ -124,6 +125,9 @@ def _search( termset: str = Path(..., title="Termset to search"), group: SemsimSearchGroup = Path(..., title="Group of entities to search within (e.g. Human Genes)"), metric: SemsimMetric = Query(SemsimMetric.ANCESTOR_INFORMATION_CONTENT, title="Similarity metric to use"), + directionality: SemsimDirectionality = Query( + SemsimDirectionality.BIDIRECTIONAL, title="Directionality of the search" + ), limit: int = Query(default=10, ge=1, le=50), ): """Search for terms in a termset @@ -138,7 +142,9 @@ def _search( List[str]: List of matching terms """ terms = [term.strip() for term in termset.split(",")] - results = semsimian().search(termset=terms, prefix=parse_similarity_prefix(group), metric=metric, limit=limit) + results = semsimian().search( + termset=terms, prefix=parse_similarity_prefix(group), metric=metric, directionality=directionality, limit=limit + ) return results diff --git a/backend/src/monarch_py/service/semsim_service.py b/backend/src/monarch_py/service/semsim_service.py index 05d1b5434..db471688b 100644 --- a/backend/src/monarch_py/service/semsim_service.py +++ b/backend/src/monarch_py/service/semsim_service.py @@ -3,7 +3,7 @@ from pydantic import BaseModel -from monarch_py.api.additional_models import SemsimMetric, SemsimMultiCompareRequest +from monarch_py.api.additional_models import SemsimMetric, SemsimMultiCompareRequest, SemsimDirectionality from monarch_py.datamodels.model import TermSetPairwiseSimilarity, SemsimSearchResult, Entity @@ -75,10 +75,11 @@ def search( termset: List[str], prefix: str, metric: SemsimMetric = SemsimMetric.ANCESTOR_INFORMATION_CONTENT, + directionality: SemsimDirectionality = SemsimDirectionality.BIDIRECTIONAL, limit: int = 10, ) -> List[SemsimSearchResult]: host = f"http://{self.semsim_server_host}:{self.semsim_server_port}" - path = f"search/{','.join(termset)}/{prefix}/{metric}?limit={limit}" + path = f"search/{','.join(termset)}/{prefix}:/{metric}?limit={limit}&directionality={directionality.value} " url = f"{host}/{path}" print(f"Fetching {url}...") diff --git a/backend/src/monarch_py/service/solr_service.py b/backend/src/monarch_py/service/solr_service.py index 2e964a342..8793c46bb 100644 --- a/backend/src/monarch_py/service/solr_service.py +++ b/backend/src/monarch_py/service/solr_service.py @@ -33,7 +33,14 @@ def query(self, q: SolrQuery) -> SolrQueryResult: response.raise_for_status() solr_query_result = SolrQueryResult.model_validate(data, from_attributes=True) for doc in solr_query_result.response.docs: - self._strip_json(doc, "_version_", "iri") + self._strip_json( + doc, + "_version_", + "iri", + "frequency_computed_sortable_float", + "has_quotient_sortable_float", + "has_percentage_sortable_float", + ) return solr_query_result diff --git a/backend/tests/api/test_semsim_router.py b/backend/tests/api/test_semsim_router.py index f6c047805..05a7698bf 100644 --- a/backend/tests/api/test_semsim_router.py +++ b/backend/tests/api/test_semsim_router.py @@ -3,7 +3,12 @@ from fastapi import status from unittest.mock import MagicMock, patch -from monarch_py.api.additional_models import SemsimMetric, SemsimSearchGroup, SemsimMultiCompareRequest +from monarch_py.api.additional_models import ( + SemsimMetric, + SemsimSearchGroup, + SemsimMultiCompareRequest, + SemsimDirectionality, +) from monarch_py.api.semsim import router from monarch_py.datamodels.category_enums import AssociationPredicate, EntityCategory @@ -79,9 +84,11 @@ def test_get_search(mock_search, termset: str, metric: SemsimMetric): limit = 5 response = client.get(f"/search/{termset}/{group.value}?metric={metric}&limit={limit}") - + directionality = SemsimDirectionality.BIDIRECTIONAL assert response.status_code == status.HTTP_200_OK - mock_search.assert_called_once_with(termset=["HP:123", "HP:456"], prefix=group.name, metric=metric, limit=limit) + mock_search.assert_called_once_with( + termset=["HP:123", "HP:456"], prefix=group.name, metric=metric, directionality=directionality, limit=limit + ) @patch("monarch_py.service.semsim_service.SemsimianService.search") @@ -91,10 +98,18 @@ def test_post_search(mock_search): termset = ["HP:123", "HP:456"] group = SemsimSearchGroup.HGNC metric = SemsimMetric.JACCARD_SIMILARITY + directionality = SemsimDirectionality.BIDIRECTIONAL limit = 5 response = client.post( - f"/search/", json={"termset": termset, "group": group.value, "metric": metric, "limit": limit} + f"/search/", + json={ + "termset": termset, + "group": group.value, + "metric": metric, + "directionality": directionality, + "limit": limit, + }, ) assert response.status_code == status.HTTP_200_OK diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py index 6f692a883..29d5ea233 100644 --- a/backend/tests/fixtures/association_counts.py +++ b/backend/tests/fixtures/association_counts.py @@ -7,10 +7,12 @@ def association_counts(): "items": [ { "label": "Phenotype to Disease", - "count": 3959, + "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"}, ] } diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py index c47468773..39bd00b5e 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": 4, + "QTime": 1, "params": { "facet.query": [ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', @@ -20,6 +20,10 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', '(category:"biolink:CausalGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', + '(category:"biolink:VariantToGeneAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', + '(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', + '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', + '(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', @@ -32,6 +36,10 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', + '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', + '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', + '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', + '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', ], "mm": "100%", "q": "*:*", @@ -45,2253 +53,4691 @@ def association_counts_response(): }, }, "response": { - "num_found": 4965, + "num_found": 5013, "start": 0, "docs": [ { - "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", - "original_subject": "NCBIGene:84197", - "predicate": "biolink:causes", - "original_object": "OMIM:615249", - "category": "biolink:CausalGeneToDiseaseAssociation", + "id": "uuid:1ccfb83b-400a-11ef-89e7-6fe0be41fbbf", + "original_subject": "OMIM:253280", + "predicate": "biolink:has_phenotype", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "aggregator_knowledge_source": ["infores:monarchinitiative"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:omim", - "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:26267", - "object": "MONDO:0014101", - "subject_label": "POMK", - "subject_category": "biolink:Gene", - "subject_namespace": "HGNC", - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:15236414"], + "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", + "subject_category": "biolink:Disease", + "subject_namespace": "MONDO", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "BFO:0000002", - "MONDO:0018276", - "MONDO:0000171", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0014101", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", - "MONDO:0003847", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "subject_closure_label": [ "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", + "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", + "disease", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", + "realizable entity", + "metabolic disease", + "continuant", + "myopathy", "congenital nervous system disorder", "entity", + "inborn errors of metabolism", "muscular dystrophy-dystroglycanopathy", - "specifically dependent continuant", + "glycoprotein metabolism disease", + "hereditary disease", "disease", - "muscular dystrophy-dystroglycanopathy, type A", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital muscular dystrophy", - "realizable entity", - "human disease", - "myopathy", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], - "evidence_count": 0, - "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", - }, - { - "id": "uuid:4dc18a55-38d8-11ef-8dc1-0579903a0a12", - "original_subject": "NCBIGene:6442", - "predicate": "biolink:causes", - "original_object": "OMIM:608099", - "category": "biolink:CausalGeneToDiseaseAssociation", - "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], - "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:omim", - "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:10805", - "object": "MONDO:0011968", - "subject_label": "SGCA", - "subject_category": "biolink:Gene", - "subject_namespace": "HGNC", - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", + "object_label": "Generalized hypotonia", + "object_category": "biolink:PhenotypicFeature", + "object_namespace": "HP", "object_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0016140", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", - "MONDO:0005071", - "MONDO:0005267", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", + "UPHENO:0082555", + "HP:0001290", "BFO:0000002", - "MONDO:0005217", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "UPHENO:0002320", + "UPHENO:0002816", + "BFO:0000002", + "UPHENO:0082557", + "BFO:0000001", + "UPHENO:0001001", + "HP:0011804", + "HP:0033127", + "UPHENO:0001003", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "HP:0003808", + "UPHENO:0001002", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", "BFO:0000020", - "MONDO:0006025", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0100547", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", + "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0002332", + "HP:0001252", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000062", ], "object_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", - "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "autosomal recessive disease", - "skeletal muscle disorder", - "neuromuscular disease", "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "realizable entity", - "familial dilated cardiomyopathy", - "autosomal genetic disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "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", + "multicellular organism", + "organ system subdivision", + "All", + "continuant", + "organ", + "abnormal anatomical entity", + "independent continuant", + "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", + "continuant", "entity", - "myopathy", + "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": [ + "All", + "Congenital onset", + "Clinical modifier", + "Clinical course", + "Onset", ], - "evidence_count": 0, - "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", + "evidence_count": 2, + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0001290", }, { - "id": "uuid:4dc18a8f-38d8-11ef-8dc1-0579903a0a12", - "original_subject": "NCBIGene:5339", - "predicate": "biolink:causes", - "original_object": "OMIM:226670", - "category": "biolink:CausalGeneToDiseaseAssociation", + "id": "uuid:1ccfb864-400a-11ef-89e7-6fe0be41fbbf", + "original_subject": "OMIM:253280", + "predicate": "biolink:has_phenotype", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "aggregator_knowledge_source": ["infores:monarchinitiative"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:omim", - "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:9069", - "object": "MONDO:0009181", - "subject_label": "PLEC", - "subject_category": "biolink:Gene", - "subject_namespace": "HGNC", - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0019268", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", + "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:15236414"], + "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", + 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"UPHENO:0002910", + "HP:0000478", + "HP:0000118", + "UPHENO:0002536", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0000970", + "BFO:0000002", + "BFO:0000002", + "HP:0100022", + "UPHENO:0002844", + "HP:0011389", + "HP:0000496", + "UPHENO:0079833", + "BFO:0000015", + "BFO:0000004", + "UBERON:0004121", + "UBERON:0010000", + "UBERON:0004456", + "NBO:0000388", + "NBO:0000444", + "UBERON:0000033", + "UBERON:0004088", + "UBERON:0001456", + "UPHENO:0049622", "BFO:0000020", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0700096", + "UPHENO:0002433", + "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: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", ], "object_closure_label": [ - "disposition", - "hereditary disease", - "muscle tissue disorder", - "disease", - "hereditary skeletal muscle disorder", - "continuant", - "skeletal muscle disorder", + "abnormal voluntary movement behavior", + "abnormal response to stimulus", "specifically dependent continuant", - "disease", - "musculoskeletal system disorder", - "congenital myopathy", - "realizable entity", - "human disease", - "myopathy", + "abnormality of nervous system physiology", + "abnormal behavior process", + "abnormal nervous system", + "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", + "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", + "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", + "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", + "Phenotypic abnormality", + "anatomical system", + "sensory system", + "abnormality of anatomical entity physiology", + "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", ], - "evidence_count": 0, - "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", + "evidence_count": 1, + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", }, ], }, "facet_counts": { "facet_fields": {}, "facet_queries": { - '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3959, + '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 4012, '(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, @@ -2303,6 +4749,10 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:CausalGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, + '(category:"biolink:VariantToGeneAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, + '(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, + '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, + '(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, @@ -2315,6 +4765,10 @@ def association_counts_response(): '(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: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, + '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 237, }, }, } diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py index 65fc60ead..5ecde5b1b 100644 --- a/backend/tests/fixtures/association_response.py +++ b/backend/tests/fixtures/association_response.py @@ -19,2246 +19,4684 @@ def association_response(): }, }, "response": { - "num_found": 4965, + "num_found": 5013, "start": 0, "docs": [ { - "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", - "original_subject": "NCBIGene:84197", - "predicate": "biolink:causes", - "original_object": "OMIM:615249", - "category": "biolink:CausalGeneToDiseaseAssociation", + "id": 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"MONDO:0020120", - "MONDO:0019056", + "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:15236414"], + "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", + "subject_category": "biolink:Disease", + "subject_namespace": "MONDO", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "BFO:0000002", - "MONDO:0018276", - "MONDO:0000171", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0014101", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + 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brain and eye anomalies), type A3", + "disorder of protein O-glycosylation", + "disorder of glycosylation", "skeletal muscle disorder", "neuromuscular disease", - "congenital nervous system disorder", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], - "object_label": "congenital myopathy", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", + "object_label": "Nystagmus", + "object_category": "biolink:PhenotypicFeature", + "object_namespace": "HP", "object_closure": [ - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", + "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", "BFO:0000001", - "MONDO:0000001", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "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: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", + "HP:0000118", + "UPHENO:0002536", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0000970", + "BFO:0000002", + "BFO:0000002", + "HP:0100022", + "UPHENO:0002844", + "HP:0011389", + "HP:0000496", + "UPHENO:0079833", + "BFO:0000015", + "BFO:0000004", + "UBERON:0004121", + "UBERON:0010000", + "UBERON:0004456", + "NBO:0000388", + "NBO:0000444", + "UBERON:0000033", + "UBERON:0004088", + "UBERON:0001456", + "UPHENO:0049622", "BFO:0000020", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0700096", + "UPHENO:0002433", + "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: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", ], "object_closure_label": [ - "disposition", - "hereditary disease", - "muscle tissue disorder", - "disease", - "hereditary skeletal muscle disorder", - "continuant", - "skeletal muscle disorder", + "abnormal voluntary movement behavior", + "abnormal response to stimulus", "specifically dependent continuant", - "disease", - "musculoskeletal system disorder", - "congenital myopathy", - "realizable entity", - "human disease", - "myopathy", + "abnormality of nervous system physiology", + "abnormal behavior process", + "abnormal nervous system", + "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", + "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", + "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", + "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", + "Phenotypic abnormality", + "anatomical system", + "sensory system", + "abnormality of anatomical entity physiology", + "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", ], - "evidence_count": 0, - "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", + "evidence_count": 1, + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", }, ], }, diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py index 00a2e3dd9..c63daeebb 100644 --- a/backend/tests/fixtures/association_table.py +++ b/backend/tests/fixtures/association_table.py @@ -6,159 +6,335 @@ def association_table(): return { "limit": 5, "offset": 0, - "total": 3959, + "total": 4012, "items": [ { - "id": "uuid:0f88c0b8-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98bea-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0958233", - "original_subject": "OMIM:620725", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0008029", - "MONDO:0000001", - "MONDO:0016106", - "BFO:0000002", - "MONDO:0958233", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", - "MONDO:0003847", + "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:0000001", ], - "subject_label": "Bethlem myopathy 1B", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "Bethlem myopathy", - "hereditary skeletal muscle disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "human disease", "entity", - "specifically dependent continuant", - "progressive muscular dystrophy", - "disease", - "Bethlem myopathy 1B", + "hereditary skeletal muscle disorder", "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", - "human disease", "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0006094", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", + "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:0002332", - "BFO:0000001", - "UPHENO:0002816", - "PATO:0000001", - "HP:0000001", - "HP:0000118", - "UBERON:0000062", - "UPHENO:0082875", - "UPHENO:0080555", - "HP:0011804", - "UBERON:0000467", - "UBERON:0005090", + "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:0076723", + "UPHENO:0002905", + "HP:0034430", + "HP:0000924", + "HP:0033127", + "HP:0040068", + "UPHENO:0002880", + "UPHENO:0002830", "UBERON:0000468", "UBERON:0011216", - "HP:0003011", - "UPHENO:0002536", - "UBERON:0000383", - "UBERON:0001015", - "BFO:0000002", - "UPHENO:0001005", + "HP:0000001", + "PATO:0000001", + "UBERON:0010708", + "UBERON:0010712", + "UBERON:0002091", + "UBERON:0000982", + "UPHENO:0086633", + "UPHENO:0077421", "UPHENO:0001002", - "BFO:0000040", + "HP:0006094", + "UPHENO:0002964", "UBERON:0001062", + "UBERON:0002529", + "UBERON:0003657", + "HP:0001167", + "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:0001630", - "UPHENO:0075696", + "UBERON:0002204", + "UBERON:5002389", + "UBERON:0002544", + "HP:0011729", "BFO:0000020", - "BFO:0000004", - "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002320", - "HP:0003701", - "UPHENO:0080556", + "UPHENO:0002708", + "HP:0430046", "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0084763", + "UPHENO:0076727", + "UPHENO:0020584", + "UBERON:0011582", + "UBERON:0015061", + "UBERON:0004375", + "UBERON:0002102", + "UPHENO:0084766", + "HP:0005922", + "UPHENO:0087006", + "UPHENO:0002332", + "UPHENO:0002896", + "UPHENO:0081440", + "UPHENO:0086635", + "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:0010912", + "UPHENO:0075696", + "UPHENO:0076943", + "UPHENO:0084448", + "HP:0011844", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0002470", + "UBERON:0008785", + "UBERON:0012139", + "UBERON:0003839", ], - "object_label": "Proximal muscle weakness", + "object_label": "Finger joint hypermobility", "object_closure_label": [ - "phenotype", - "abnormal musculature", - "abnormality of muscle organ physiology", - "multicellular anatomical structure", - "muscle organ", - "Abnormality of the musculature", - "independent continuant", - "All", - "entity", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormal muscle physiology", - "abnormal anatomical entity", + "abnormal appendicular skeleton morphology", "specifically dependent continuant", - "continuant", - "abnormality of anatomical entity physiology", - "continuant", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "multicellular organism", - "organ system subdivision", - "abnormality of anatomical entity physiology", + "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", - "anatomical entity", - "Muscle weakness", + "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", - "phenotype by ontology source", + "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", - "musculature of body", - "musculature", - "quality", - "Phenotypic abnormality", - "decreased muscle organ strength", - "anatomical structure", - "Proximal muscle weakness", + "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", + "digit", + "Abnormality of the hand", + "Abnormal skeletal morphology", + "abnormality of anatomical entity physiology", + "abnormal limb bone", + "Abnormality of limbs", "material anatomical entity", + "pectoral complex", + "bone element", + "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", + "limb skeleton subdivision", + "appendicular skeleton", + "skeletal joint", + "Abnormal hand morphology", + "abnormal autopod region morphology", + "phenotype by ontology source", + "Small joint hypermobilty", + "appendage girdle complex", + "subdivision of skeletal system", + "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", - "muscle structure", + "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", ], "object_taxon": None, "object_taxon_label": None, @@ -166,25 +342,28 @@ def association_table(): "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 3, + "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_count": 11, - "has_total": 11, + "has_count": 7, + "has_total": 7, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0006094", "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:16075202", "PMID:11381124", "PMID:11506412", "PMID:20729548", "PMID:20106987"], "publications_links": [ - {"id": "PMID:11865138", "url": "http://identifiers.org/pubmed/11865138"}, - {"id": "PMID:17886299", "url": "http://identifiers.org/pubmed/17886299"}, + {"id": "PMID:16075202", "url": "http://identifiers.org/pubmed/16075202"}, + {"id": "PMID:11381124", "url": "http://identifiers.org/pubmed/11381124"}, + {"id": "PMID:11506412", "url": "http://identifiers.org/pubmed/11506412"}, + {"id": "PMID:20729548", "url": "http://identifiers.org/pubmed/20729548"}, + {"id": "PMID:20106987", "url": "http://identifiers.org/pubmed/20106987"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -223,259 +402,156 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:0b39d5c5-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98be5-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013049", - "original_subject": "OMIM:612937", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "MONDO:0005500", - "MONDO:0005066", - "MONDO:0013049", - "MONDO:0018276", - "MONDO:0015286", - "MONDO:0024322", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0017749", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", - "MONDO:0003847", + "MONDO:0700223", "MONDO:0700096", - "MONDO:0019052", + "BFO:0000001", + "MONDO:0002320", + "BFO:0000002", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0000355", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "subject_label": "DPM3-congenital disorder of glycosylation", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "hereditary neuromuscular disease", - "disorder of glycosylation", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "disorder of multiple glycosylation", - "hereditary skeletal muscle disorder", - "congenital disorder of glycosylation type I", - "metabolic disease", - "DPM3-congenital disorder of glycosylation", - "continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "human disease", "entity", - "muscular dystrophy-dystroglycanopathy", - "specifically dependent continuant", - "congenital disorder of glycosylation", - "disease", + "hereditary skeletal muscle disorder", "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", - "human disease", - "inborn errors of metabolism", "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0001252", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0077821", - "CHEBI:33302", - "CHEBI:33304", + "UPHENO:0082555", "BFO:0000002", - "PR:000050567", - "CHEBI:33582", - "CHEBI:16670", - "HP:0000001", - "HP:0011021", - "HP:0000118", "UPHENO:0001003", - "UBERON:0000178", - "HP:0004364", - "HP:0010876", - "HP:0003236", - "GO:0008152", - "UBERON:0000467", - "CHEBI:33579", - "UPHENO:0051668", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000468", - "UPHENO:0001001", - "UPHENO:0046284", - "BFO:0000001", - "HP:0001871", - "UPHENO:0002536", - "CHEBI:50860", - "HP:0430071", - "UPHENO:0004459", - "BFO:0000003", + "UPHENO:0002320", + "UPHENO:0002816", "BFO:0000002", - "UBERON:0002390", - "UBERON:0000179", - "GO:0002185", - "CHEBI:16541", + "UBERON:0011216", + "UPHENO:0075696", + "UPHENO:0082557", + "UPHENO:0001001", + "HP:0011804", + "HP:0033127", + "UBERON:0000468", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "HP:0003808", "UPHENO:0001002", - "UPHENO:0081547", - "UPHENO:0077826", - "HP:0032180", - "HP:0033405", + "BFO:0000001", + "BFO:0000040", "UBERON:0001062", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", + "UBERON:0000465", "UPHENO:0001005", "BFO:0000020", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0051804", - "GO:0008150", - "BFO:0000040", - "UBERON:0010000", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0076289", - "HP:0001939", "BFO:0000001", - "BFO:0000015", - "BFO:0000004", - "GO:1902494", - "CHEBI:36357", - "GO:0061695", - "CHEBI:15841", - "UPHENO:0076286", - "HP:0040081", - "PATO:0000001", - "UPHENO:0051612", + "UPHENO:0002332", + "HP:0001252", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", "UBERON:0000061", - "UBERON:0000463", - "GO:1990234", - "CHEBI:33839", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UBERON:0004120", - "UBERON:0006314", - "UPHENO:0051801", - "GO:0005575", - "CHEBI:24431", - "UBERON:0000465", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000062", ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Hypotonia", "object_closure_label": [ + "abnormal anatomical entity", + "decreased muscle organ tone", "entity", - "carbon group molecular entity", - "peptide", - "abnormal hematopoietic system", - "biological_process", - "material entity", - "multicellular anatomical structure", - "creatine kinase complex", - "protein polypeptide chain", - "p-block molecular entity", - "hemolymphoid system", - "abnormal chemical entity level", - "process", - "independent continuant", - "All", - "Abnormality of circulating enzyme level", - "pnictogen molecular entity", - "chalcogen molecular entity", + "decreased anatomical entity tone", + "abnormal musculature", + "quality", + "phenotype", "Phenotypic abnormality", - "Abnormal circulating protein concentration", - "Elevated circulating creatine kinase concentration", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "abnormal role independent continuant level", - "abnormal blood chemical entity level", - "anatomical structure", - "organism substance", - "abnormal independent continuant chemical entity level", - "continuant", "entity", - "occurrent", - "continuant", - "hematopoietic system", - "haemolymphatic fluid", - "specifically dependent continuant", - "catalytic complex", - "polyatomic entity", - "organic molecular entity", - "abnormal phenotype by ontology source", - "abnormal anatomical entity", - "protein-containing material entity", + "organ system subdivision", + "Abnormal muscle tone", + "Abnormality of the musculoskeletal system", "multicellular organism", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of blood and blood-forming tissues", - "anatomical entity", - "phenotype", - "abnormal role blood level", - "Abnormal circulating creatine kinase concentration", - "quality", - "abnormal blood protein polypeptide chain level", - "blood", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "abnormal independent continuant nitrogen molecular entity level", + "All", + "specifically dependent continuant", + "continuant", + "organ", + "independent continuant", + "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", + "continuant", "phenotype by ontology source", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "Abnormal circulating organic compound concentration", + "musculature of body", + "musculature", + "abnormal anatomical entity", "Phenotypic abnormality", - "abnormal independent continuant protein polypeptide chain level", - "protein-containing complex", - "molecular entity", - "transferase complex", - "macromolecule", - "carboxamide", - "organic amino compound", - "primary amide", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "cellular_component", - "chemical entity", - "material anatomical entity", - "abnormal multicellular organism chemical entity level", - "Abnormality of metabolism/homeostasis", "anatomical system", - "main group molecular entity", + "muscle structure", + "abnormality of anatomical entity physiology", + "abnormal phenotype by ontology source", + "material entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, @@ -483,25 +559,28 @@ def association_table(): "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 3, + "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_count": 2, - "has_total": 2, + "has_count": 5, + "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001252", "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:19576565", "PMID:28803818"], + "publications": ["PMID:16075202", "PMID:11381124", "PMID:11506412", "PMID:20729548", "PMID:20106987"], "publications_links": [ - {"id": "PMID:19576565", "url": "http://identifiers.org/pubmed/19576565"}, - {"id": "PMID:28803818", "url": "http://identifiers.org/pubmed/28803818"}, + {"id": "PMID:16075202", "url": "http://identifiers.org/pubmed/16075202"}, + {"id": "PMID:11381124", "url": "http://identifiers.org/pubmed/11381124"}, + {"id": "PMID:11506412", "url": "http://identifiers.org/pubmed/11506412"}, + {"id": "PMID:20729548", "url": "http://identifiers.org/pubmed/20729548"}, + {"id": "PMID:20106987", "url": "http://identifiers.org/pubmed/20106987"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -540,165 +619,228 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:0dc5ac14-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98c06-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009676", - "original_subject": "OMIM:253601", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0009676", - "MONDO:0016145", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", + "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:0000001", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "disease", + "hereditary neuromuscular disease", + "human disease", + "entity", "hereditary skeletal muscle disorder", - "autosomal recessive disease", - "continuant", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "Ullrich congenital muscular dystrophy 1B", "skeletal muscle disorder", "neuromuscular disease", - "qualitative or quantitative defects of dysferlin", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", "disease", - "autosomal recessive limb-girdle muscular dystrophy type 2B", - "hereditary neurological disease", - "musculoskeletal system disorder", + "muscular dystrophy", + "congenital myopathy", "realizable entity", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", "myopathy", - "entity", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0003557", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", + "UBERON:0000465", + "RO:0002577", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", "BFO:0000002", - "UPHENO:0002332", - "BFO:0000001", + "UPHENO:0085135", + "HP:0011805", "UPHENO:0002816", - "PATO:0000001", - "HP:0000001", - "HP:0000118", - "UBERON:0000062", - "UPHENO:0082875", - "UPHENO:0080555", - "HP:0011804", - "UBERON:0000467", - "UBERON:0005090", + "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", "UBERON:0000468", "UBERON:0011216", + "HP:0000001", + "HP:0004303", "HP:0003011", - "UPHENO:0002536", - "UBERON:0000383", - "UBERON:0001015", - "BFO:0000002", - "UPHENO:0001005", + "UPHENO:0085099", + "PATO:0000001", + "CL:0002372", + "CL:0000737", + "UBERON:0001134", + "UPHENO:0067691", "UPHENO:0001002", - "BFO:0000040", "UBERON:0001062", + "UPHENO:0080626", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UPHENO:0015280", + "BFO:0000002", + "HP:0012084", "UBERON:0010000", + "CL:0002242", + "CL:0000188", + "CL:0000211", + "CL:0000183", "UBERON:0001630", - "UPHENO:0075696", + "UBERON:0002385", + "BFO:0000001", + "GO:0005575", + "UPHENO:0001005", "BFO:0000020", - "BFO:0000004", - "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002320", - "HP:0003701", - "UPHENO:0080556", - "UBERON:0000465", + "UPHENO:0086457", + "UPHENO:0020584", + "UPHENO:0085097", + "UPHENO:0087047", + "UPHENO:0006889", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "CL:0000000", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0086172", + "HP:0025354", + "UPHENO:0088180", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000479", + "UBERON:0000062", ], - "object_label": "Proximal muscle weakness", + "object_label": "Increased variability in muscle fiber diameter", "object_closure_label": [ - "phenotype", + "abnormal size of skeletal muscle fiber", + "anatomical structure", "abnormal musculature", - "abnormality of muscle organ physiology", - "multicellular anatomical structure", - "muscle organ", - "Abnormality of the musculature", - "independent continuant", - "All", - "entity", - "abnormal phenotype by ontology source", + "quality", + "phenotype", "Phenotypic abnormality", - "Abnormal muscle physiology", - "abnormal anatomical entity", - "specifically dependent continuant", - "continuant", - "abnormality of anatomical entity physiology", - "continuant", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "multicellular organism", - "organ system subdivision", - "abnormality of anatomical entity physiology", "material entity", - "anatomical entity", - "Muscle weakness", + "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", + "multicellular anatomical structure", + "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", - "quality", - "Phenotypic abnormality", - "decreased muscle organ strength", - "anatomical structure", - "Proximal muscle weakness", + "abnormal anatomical entity", + "abnormal muscle organ morphology", "material anatomical entity", - "entity", + "system", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the independent continuant", + "independent continuant", "anatomical system", + "cell", "muscle structure", + "skeletal musculature", + "abnormal cell", + "entity", + "abnormal phenotype by ontology source", + "Increased variability in muscle fiber diameter", + "abnormal size of anatomical entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, @@ -706,25 +848,26 @@ def association_table(): "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 3, + "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_count": 32, - "has_total": 32, + "has_count": 4, + "has_total": 4, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0958235||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:9731527", "PMID:9009996"], + "publications": ["PMID:16075202", "PMID:11381124", "PMID:20106987"], "publications_links": [ - {"id": "PMID:9731527", "url": "http://identifiers.org/pubmed/9731527"}, - {"id": "PMID:9009996", "url": "http://identifiers.org/pubmed/9009996"}, + {"id": "PMID:16075202", "url": "http://identifiers.org/pubmed/16075202"}, + {"id": "PMID:11381124", "url": "http://identifiers.org/pubmed/11381124"}, + {"id": "PMID:20106987", "url": "http://identifiers.org/pubmed/20106987"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -763,295 +906,142 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:093061ab-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98be7-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0016140", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0100547", - "MONDO:0016139", + "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:0000001", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", + "hereditary neuromuscular disease", + "human disease", + "entity", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "autosomal recessive disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "Ullrich congenital muscular dystrophy 1B", "skeletal muscle disorder", "neuromuscular disease", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", + "muscular dystrophy", + "congenital myopathy", "realizable entity", - "familial dilated cardiomyopathy", - "autosomal genetic disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0008981", + "object": "HP:0001270", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0065599", - "UPHENO:0015280", - "UPHENO:0076692", "BFO:0000002", - "HP:0002814", + "UPHENO:0001003", + "HP:0012638", "BFO:0000002", + "UBERON:0001016", + "UPHENO:0004523", "BFO:0000001", - "RO:0002577", - "PR:000050567", - "UBERON:0014892", - "UBERON:0004466", - "UBERON:0003823", - "UBERON:0004256", - "UBERON:0006067", - "UPHENO:0002816", - "UBERON:0000026", - "HP:0000001", - "UPHENO:0002644", - "HP:0000118", - "UBERON:0000475", - "UBERON:0000062", - "UPHENO:0084489", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0018254", - "UPHENO:0075952", - "HP:0030236", - "UPHENO:0084715", - "BFO:0000001", - "UBERON:0000061", - "UBERON:0000468", - "UBERON:0011216", "UPHENO:0001001", - "HP:0008981", - "HP:0003011", - "HP:0001437", - "UPHENO:0002536", - "HP:0040064", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0010890", - "UBERON:0003661", - "UPHENO:0084535", - "UPHENO:0075777", - "HP:0011805", - "HP:0003712", - "UPHENO:0002647", - "UBERON:0002103", - "UPHENO:0001002", - "UPHENO:0076710", - "UBERON:0001062", - "UBERON:0010538", - "UBERON:0007271", - "UBERON:0014792", - "UPHENO:0001005", - "HP:0009127", - "UPHENO:0084763", - "BFO:0000020", - "UPHENO:0020584", - "HP:0008968", - "UBERON:0000978", - "UBERON:0002529", - "UBERON:0007270", - "UBERON:0004480", - "UBERON:0014795", - "UBERON:0003663", - "UPHENO:0084767", - "BFO:0000040", - "UBERON:0010000", - "UBERON:0001630", - "HP:0002981", - "UBERON:0015212", - "UBERON:0010709", - "UBERON:0006058", - "HP:0001430", - "UPHENO:0001072", - "HP:0033127", - "UPHENO:0001003", - "PATO:0000001", - "UPHENO:0002830", - "UBERON:0004708", - "UBERON:0010707", - "UBERON:0000154", - "UBERON:0010758", - "UBERON:0008784", - "UBERON:0002471", - "UBERON:0004482", - "UBERON:0001383", - "UPHENO:0075696", - "UPHENO:0075195", - "UPHENO:0003070", + "HP:0012759", + "UBERON:0000468", + "HP:0000001", + "PATO:0000001", + "UPHENO:0001002", + "HP:0000707", + "BFO:0000040", + "UBERON:0001062", + "HP:0001270", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000001", "BFO:0000004", - "UBERON:0002101", - "UBERON:0004709", + "UBERON:0010000", + "UPHENO:0002433", "UBERON:0000465", + "UPHENO:0001005", + "BFO:0000020", + "UPHENO:0002332", + "UBERON:0000467", + "UPHENO:0082875", + "UBERON:0000061", + "UPHENO:0075696", + "HP:0012758", ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Motor delay", "object_closure_label": [ - "Abnormality of the lower limb", - "abnormal musculature", - "Abnormality of the musculature of the lower limbs", - "skeletal muscle organ, vertebrate", - "musculature of leg", - "hindlimb zeugopod", - "hindlimb zeugopod muscle", - "musculature of hindlimb zeugopod", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "abnormal leg", - "material entity", - "multicellular anatomical structure", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal musculature of limb", - "continuant", - "muscle organ", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the musculature", - "abnormal anatomical entity morphology", - "appendage", - "All", - "abnormal musculature of lower limb", - "abnormal anatomical entity morphology in the pelvic complex", - "entity", + "abnormality of nervous system physiology", + "abnormal nervous system", + "quality", + "phenotype", "Phenotypic abnormality", - "hypertrophic multicellular anatomical structure", - "limb", - "pelvic appendage", - "multi-limb segment region", - "Abnormality of the calf", - "paired limb/fin", - "posterior region of body", - "subdivision of organism along appendicular axis", - "abnormal hindlimb zeugopod", - "continuant", - "hindlimb", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "lateral structure", - "pelvic complex muscle", - "limb muscle", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity", - "Abnormality of limbs", - "system", - "protein-containing material entity", + "Abnormality of the nervous system", + "nervous system", "multicellular organism", - "organ system subdivision", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "anatomical entity", - "phenotype", - "Calf muscle hypertrophy", - "Abnormality of the calf musculature", - "increased size of the anatomical entity", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "abnormal limb", - "organism subdivision", - "organ", - "musculature of body", - "musculature", - "leg", - "limb segment", - "pelvic appendage musculature", - "musculature of limb", - "pelvic appendage muscle", - "hindlimb muscle", + "All", + "specifically dependent continuant", + "continuant", "abnormal anatomical entity", - "pelvic complex", - "paired limb/fin segment", - "appendage musculature", - "musculature of pelvic complex", - "hypertrophic pelvic complex muscle", - "Phenotypic abnormality", + "multicellular anatomical structure", + "Abnormal nervous system physiology", "anatomical structure", - "appendage girdle complex", - "lower limb segment", - "zeugopod", - "musculature of lower limb", - "muscle of leg", - "abnormal muscle organ morphology", + "abnormality of anatomical entity physiology", "material anatomical entity", - "abnormal size of anatomical entity", + "Motor delay", + "Neurodevelopmental abnormality", + "continuant", "entity", + "phenotype by ontology source", + "abnormal anatomical entity", + "Phenotypic abnormality", "independent continuant", "anatomical system", - "muscle structure", - "skeletal musculature", + "abnormality of anatomical entity physiology", + "entity", + "abnormal phenotype by ontology source", + "Neurodevelopmental delay", + "material entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, @@ -1059,25 +1049,26 @@ def association_table(): "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 3, + "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_count": 5, - "has_total": 5, + "has_count": 3, + "has_total": 3, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001270", "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:8069911", "PMID:8538707"], + "publications": ["PMID:16075202", "PMID:11506412", "PMID:20729548"], "publications_links": [ - {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, - {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, + {"id": "PMID:16075202", "url": "http://identifiers.org/pubmed/16075202"}, + {"id": "PMID:11506412", "url": "http://identifiers.org/pubmed/11506412"}, + {"id": "PMID:20729548", "url": "http://identifiers.org/pubmed/20729548"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -1116,273 +1107,158 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:093061a4-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:2360805d-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0958233", + "original_subject": "OMIM:620725", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0016140", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "BFO:0000002", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0100547", - "MONDO:0016139", + "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", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "Bethlem myopathy 1B", "subject_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "autosomal recessive disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "Bethlem myopathy", + "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", + "muscular dystrophy", + "congenital myopathy", "realizable entity", - "familial dilated cardiomyopathy", - "autosomal genetic disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "continuant", "myopathy", + "congenital nervous system disorder", + "entity", + "progressive muscular dystrophy", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "Bethlem myopathy 1B", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0003701", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0077821", - "CHEBI:33302", - "CHEBI:33304", + "UPHENO:0002320", + "UPHENO:0002816", "BFO:0000002", - "PR:000050567", - "CHEBI:33582", - "CHEBI:16670", - "HP:0000001", - "HP:0011021", - "HP:0000118", + "UPHENO:0075696", + "BFO:0000001", + "UBERON:0000061", + "HP:0011804", + "HP:0001324", + "HP:0033127", "UPHENO:0001003", - "UBERON:0000178", - "HP:0004364", - "HP:0010876", - "HP:0003236", - "GO:0008152", - "UBERON:0000467", - "CHEBI:33579", - "UPHENO:0051668", - "GO:0032991", - "CHEBI:23367", "UBERON:0000468", - "UPHENO:0001001", - "UPHENO:0046284", + "UBERON:0011216", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "UPHENO:0001005", + "UPHENO:0001002", + "UPHENO:0080556", "BFO:0000001", - "HP:0001871", + "BFO:0000040", + "UBERON:0001062", + "HP:0000118", "UPHENO:0002536", - "CHEBI:50860", - "HP:0430071", - "UPHENO:0004459", - "BFO:0000003", + "UPHENO:0001001", "BFO:0000002", - "UBERON:0002390", - "UBERON:0000179", - "GO:0002185", - "CHEBI:16541", - "UPHENO:0001002", - "UPHENO:0081547", - "UPHENO:0077826", - "HP:0032180", - "HP:0033405", - "UBERON:0001062", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", - "UPHENO:0001005", - "BFO:0000020", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0051804", - "GO:0008150", - "BFO:0000040", - "UBERON:0010000", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0076289", - "HP:0001939", - "BFO:0000001", - "BFO:0000015", + "UPHENO:0080555", "BFO:0000004", - "GO:1902494", - "CHEBI:36357", - "GO:0061695", - "CHEBI:15841", - "UPHENO:0076286", - "HP:0040081", - "PATO:0000001", - "UPHENO:0051612", - "UBERON:0000061", - "UBERON:0000463", - "GO:1990234", - "CHEBI:33839", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UBERON:0004120", - "UBERON:0006314", - "UPHENO:0051801", - "GO:0005575", - "CHEBI:24431", + "UBERON:0010000", + "UBERON:0001630", + "BFO:0000020", "UBERON:0000465", + "HP:0003701", + "UPHENO:0002332", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000062", ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "entity", - "carbon group molecular entity", - "peptide", - "abnormal hematopoietic system", - "biological_process", - "material entity", - "multicellular anatomical structure", - "creatine kinase complex", - "protein polypeptide chain", - "p-block molecular entity", - "hemolymphoid system", - "abnormal chemical entity level", - "process", - "independent continuant", - "All", - "Abnormality of circulating enzyme level", - "pnictogen molecular entity", - "chalcogen molecular entity", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", - "Elevated circulating creatine kinase concentration", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "abnormal role independent continuant level", - "abnormal blood chemical entity level", + "abnormal anatomical entity", + "specifically dependent continuant", "anatomical structure", - "organism substance", - "abnormal independent continuant chemical entity level", - "continuant", + "abnormal musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", "entity", - "occurrent", - "continuant", - "hematopoietic system", - "haemolymphatic fluid", - "specifically dependent continuant", - "catalytic complex", - "polyatomic entity", - "organic molecular entity", "abnormal phenotype by ontology source", - "abnormal anatomical entity", - "protein-containing material entity", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", "multicellular organism", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of blood and blood-forming tissues", - "anatomical entity", + "organ system subdivision", + "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", + "Proximal muscle weakness", + "musculature of body", + "musculature", + "decreased anatomical entity strength", + "abnormal anatomical entity", "phenotype", - "abnormal role blood level", - "Abnormal circulating creatine kinase concentration", - "quality", - "abnormal blood protein polypeptide chain level", - "blood", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "abnormal independent continuant nitrogen molecular entity level", - "phenotype by ontology source", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "Abnormal circulating organic compound concentration", "Phenotypic abnormality", - "abnormal independent continuant protein polypeptide chain level", - "protein-containing complex", - "molecular entity", - "transferase complex", - "macromolecule", - "carboxamide", - "organic amino compound", - "primary amide", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "cellular_component", - "chemical entity", - "material anatomical entity", - "abnormal multicellular organism chemical entity level", - "Abnormality of metabolism/homeostasis", "anatomical system", - "main group molecular entity", + "muscle structure", + "abnormality of anatomical entity physiology", + "continuant", + "entity", + "material entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, @@ -1395,20 +1271,20 @@ def association_table(): "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": 5, + "has_count": 11, + "has_total": 11, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0958233||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:8069911", "PMID:8538707"], + "publications": ["PMID:11865138", "PMID:17886299"], "publications_links": [ - {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, - {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, + {"id": "PMID:11865138", "url": "http://identifiers.org/pubmed/11865138"}, + {"id": "PMID:17886299", "url": "http://identifiers.org/pubmed/17886299"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -1447,9 +1323,6 @@ def association_table(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], }, ], } diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py index 87cd27bb1..9894aa6bf 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": 2, + "QTime": 0, "params": { "mm": "100%", "q": "*:*", @@ -23,1186 +23,1063 @@ def association_table_response(): }, }, "response": { - "num_found": 3959, + "num_found": 4012, "start": 0, "docs": [ { - "id": "uuid:0f88c0b8-38d8-11ef-8dc1-0579903a0a12", - "original_subject": "OMIM:620725", + "id": "uuid:22c98bea-400a-11ef-89e7-6fe0be41fbbf", + "original_subject": "OMIM:620727", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", "aggregator_knowledge_source": ["infores:monarchinitiative"], "knowledge_level": "knowledge_assertion", "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:11865138", "PMID:17886299"], + "publications": [ + "PMID:16075202", + "PMID:11381124", + "PMID:11506412", + "PMID:20729548", + "PMID:20106987", + ], "provided_by": "hpoa_disease_to_phenotype_edges", "has_evidence": ["ECO:0000269"], - "has_count": 11, + "has_count": 7, "has_percentage": 100.0, "has_quotient": 1.0, - "has_total": 11, - "subject": "MONDO:0958233", - "object": "HP:0003701", - "subject_label": "Bethlem myopathy 1B", + "has_total": 7, + "subject": "MONDO:0958235", + "object": "HP:0006094", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0020121", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0008029", - "MONDO:0000001", - "MONDO:0016106", - "BFO:0000002", - "MONDO:0958233", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", - "MONDO:0003847", + "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:0000001", ], "subject_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "Bethlem myopathy", - "hereditary skeletal muscle disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "human disease", "entity", - "specifically dependent continuant", - "progressive muscular dystrophy", - "disease", - "Bethlem myopathy 1B", + "hereditary skeletal muscle disorder", "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", - "human disease", "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder", ], - "object_label": "Proximal muscle weakness", + "object_label": "Finger joint hypermobility", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0001001", + "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:0002332", - 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"PATO:0000001", - "UPHENO:0051612", - "UBERON:0000061", - "UBERON:0000463", - "GO:1990234", - "CHEBI:33839", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UBERON:0004120", - "UBERON:0006314", - "UPHENO:0051801", - "GO:0005575", - "CHEBI:24431", + "UBERON:0010000", + "UBERON:0001630", + "BFO:0000020", "UBERON:0000465", + "HP:0003701", + "UPHENO:0002332", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000062", ], "object_closure_label": [ - "entity", - "carbon group molecular entity", - "peptide", - "abnormal hematopoietic system", - "biological_process", - "material entity", - "multicellular anatomical structure", - "creatine kinase complex", - "protein polypeptide chain", - "p-block molecular entity", - "hemolymphoid system", - "abnormal chemical entity level", - "process", - "independent continuant", - "All", - "Abnormality of circulating enzyme level", - "pnictogen molecular entity", - "chalcogen molecular entity", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", - "Elevated circulating creatine kinase concentration", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "abnormal role independent continuant level", - "abnormal blood chemical entity level", + "abnormal anatomical entity", + "specifically dependent continuant", "anatomical structure", - "organism substance", - "abnormal independent continuant chemical entity level", - "continuant", + "abnormal musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", "entity", - "occurrent", - "continuant", - "hematopoietic system", - "haemolymphatic fluid", - "specifically dependent continuant", - "catalytic complex", - "polyatomic entity", - "organic molecular entity", "abnormal phenotype by ontology source", - "abnormal anatomical entity", - "protein-containing material entity", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", "multicellular organism", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of blood and blood-forming tissues", - "anatomical entity", + "organ system subdivision", + "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", + "Proximal muscle weakness", + "musculature of body", + "musculature", + "decreased anatomical entity strength", + "abnormal anatomical entity", "phenotype", - "abnormal role blood level", - "Abnormal circulating creatine kinase concentration", - "quality", - "abnormal blood protein polypeptide chain level", - "blood", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "abnormal independent continuant nitrogen molecular entity level", - "phenotype by ontology source", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "Abnormal circulating organic compound concentration", "Phenotypic abnormality", - "abnormal independent continuant protein polypeptide chain level", - "protein-containing complex", - "molecular entity", - "transferase complex", - "macromolecule", - "carboxamide", - "organic amino compound", - "primary amide", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "cellular_component", - "chemical entity", - "material anatomical entity", - "abnormal multicellular organism chemical entity level", - "Abnormality of metabolism/homeostasis", "anatomical system", - "main group molecular entity", + "muscle structure", + "abnormality of anatomical entity physiology", + "continuant", + "entity", + "material entity", + "anatomical entity", ], "evidence_count": 3, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], + "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", }, ], }, diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py index b83629827..7d7a4cd14 100644 --- a/backend/tests/fixtures/associations.py +++ b/backend/tests/fixtures/associations.py @@ -6,103 +6,201 @@ def associations(): return { "limit": 20, "offset": 0, - "total": 4965, + "total": 5013, "items": [ { - "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:26267", - "original_subject": "NCBIGene:84197", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "POMK", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0014101", - "original_object": "OMIM:615249", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "id": "uuid:1ccfb83b-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "BFO:0000002", - "MONDO:0018276", - "MONDO:0000171", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0014101", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", - "MONDO:0003847", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_closure_label": [ "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", + "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", + "disease", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", + "realizable entity", + "metabolic disease", + "continuant", + "myopathy", "congenital nervous system disorder", "entity", + "inborn errors of metabolism", "muscular dystrophy-dystroglycanopathy", - "specifically dependent continuant", + "glycoprotein metabolism disease", + "hereditary disease", "disease", - "muscular dystrophy-dystroglycanopathy, type A", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital muscular dystrophy", - "realizable entity", - "human disease", - "myopathy", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0001290", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "UPHENO:0082555", + "HP:0001290", + "BFO:0000002", + "UPHENO:0002320", + "UPHENO:0002816", + "BFO:0000002", + "UPHENO:0082557", + "BFO:0000001", + "UPHENO:0001001", + "HP:0011804", + "HP:0033127", + "UPHENO:0001003", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "HP:0003808", + "UPHENO:0001002", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", + "BFO:0000020", + "BFO:0000001", + "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0002332", + "HP:0001252", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000062", + ], + "object_label": "Generalized hypotonia", + "object_closure_label": [ + "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", + "multicellular organism", + "organ system subdivision", + "All", + "continuant", + "organ", + "abnormal anatomical entity", + "independent continuant", + "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", + "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", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", - "provided_by": "hpoa_gene_to_disease_edges", + "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", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:15236414"], + "publications_links": [{"id": "PMID:15236414", "url": "http://identifiers.org/pubmed/15236414"}], "frequency_qualifier": None, - "onset_qualifier": None, + "onset_qualifier": "HP:0003577", "sex_qualifier": None, "stage_qualifier": None, "qualifiers": [], @@ -122,11 +220,17 @@ def associations(): "frequency_qualifier_category": None, "frequency_qualifier_closure": [], "frequency_qualifier_closure_label": [], - "onset_qualifier_label": None, - "onset_qualifier_namespace": None, - "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_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", + ], "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, @@ -139,124 +243,242 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18a55-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:10805", - "original_subject": "NCBIGene:6442", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "SGCA", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0011968", - "original_object": "OMIM:608099", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0016140", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", + "id": "uuid:1ccfb864-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0005267", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", - "object_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_closure_label": [ "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "autosomal recessive disease", + "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", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "autosomal genetic disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0000545", + "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", + "UBERON:0000061", + "UBERON:0000019", + "UBERON:0010230", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UPHENO:0001001", + "HP:0012373", + "UBERON:0015203", + "UPHENO:0075997", + "UBERON:0000468", + "HP:0000315", + "HP:0000001", + "UPHENO:0003020", + "PATO:0000001", + "HP:0000271", + "BFO:0000040", + "UBERON:0001062", + "HP:0000152", + "UPHENO:0002910", + "HP:0000478", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0001456", + "UBERON:0000970", + "BFO:0000002", + "UPHENO:0002844", + "UBERON:0004121", + "UBERON:0010000", + "UBERON:0004456", + "UBERON:0000033", + "UBERON:0004088", + "BFO:0000001", + "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0002219", + "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_label": "Myopia", + "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", + "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", + "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", + "Phenotypic abnormality", + "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", + "material entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", - "provided_by": "hpoa_gene_to_disease_edges", + "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:0000545", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:15236414"], + "publications_links": [{"id": "PMID:15236414", "url": "http://identifiers.org/pubmed/15236414"}], "frequency_qualifier": None, - "onset_qualifier": None, + "onset_qualifier": "HP:0003577", "sex_qualifier": None, "stage_qualifier": None, "qualifiers": [], @@ -276,11 +498,17 @@ def associations(): "frequency_qualifier_category": None, "frequency_qualifier_closure": [], "frequency_qualifier_closure_label": [], - "onset_qualifier_label": None, - "onset_qualifier_namespace": None, - "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_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", + ], "sex_qualifier_label": None, "sex_qualifier_namespace": None, "sex_qualifier_category": None, @@ -293,122 +521,220 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18a8f-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:9069", - "original_subject": "NCBIGene:5339", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "PLEC", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0009181", - "original_object": "OMIM:226670", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0019268", + "id": "uuid:1cc2bd21-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0005071", + "BFO:0000016", "BFO:0000002", + "MONDO:0018949", + "MONDO:0100546", + "BFO:0000017", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", "MONDO:0020120", "MONDO:0019056", + "MONDO:0000001", + ], + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ + "nervous system disorder", + "hereditary neuromuscular disease", + "human disease", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "specifically dependent continuant", + "disease", + "distal myopathy", + "skeletal muscle disorder", + "neuromuscular disease", + "muscular dystrophy", + "realizable entity", + "continuant", + "myopathy", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0031318", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "PR:000050567", + "UBERON:0002349", + "HP:0001626", + "BFO:0000002", + "UPHENO:0001003", + "UPHENO:0002536", + "UBERON:0013702", + "UBERON:0005177", + "UPHENO:0076692", + "UBERON:0000064", + "UBERON:0000060", + "UBERON:0004923", "BFO:0000001", - "MONDO:0005071", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0002254", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0002051", - "MONDO:0100118", - "MONDO:0009181", - "MONDO:0019276", - "MONDO:0005093", - "MONDO:0006617", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0006541", + "UBERON:0000061", + "UBERON:0000948", + "UBERON:0011676", + "UBERON:0013701", + "UBERON:0009569", + "UPHENO:0001001", + "HP:0001637", + "UBERON:0004535", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "PATO:0000001", + "UBERON:0018260", + "HP:0031318", + "UPHENO:0001002", + "UBERON:0001062", + "HP:0000118", + "BFO:0000004", + "UBERON:0010314", + "UBERON:0000915", + "UBERON:0002100", + "UBERON:0005181", + "UBERON:0002075", + "UBERON:0015228", + "BFO:0000002", + "UPHENO:0080362", + "UBERON:0010000", "BFO:0000020", - "MONDO:0017610", - "MONDO:0006025", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0016198", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", - "MONDO:0700096", + "UPHENO:0087022", + "UPHENO:0076776", + "BFO:0000001", + "UBERON:0000465", + "UPHENO:0001005", + "UBERON:0001009", + "UBERON:0005983", + "HP:0030680", + "UPHENO:0076810", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0005178", + "UBERON:0007100", + "UBERON:0003103", + "UBERON:0000383", + "UPHENO:0075696", + "UPHENO:0076781", + "HP:0001627", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0015410", ], - "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "object_label": "Myofiber disarray", "object_closure_label": [ - "hereditary neuromuscular disease", - "skin disorder", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", - "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "epidermal disease", - "hereditary skeletal muscle disorder", - "hereditary skin disorder", "specifically dependent continuant", - "epidermolysis bullosa simplex", - "autosomal recessive disease", - "disease", + "abnormal heart layer morphology", + "abnormal cardiovascular system morphology", + "anatomical structure", + "body proper", + "trunk region element", + "heart plus pericardium", + "quality", + "subdivision of organism along main body axis", + "main body axis", + "subdivision of trunk", + "phenotype", + "Phenotypic abnormality", + "material entity", + "organ part", + "anatomical wall", + "organ component layer", + "Myofiber disarray", + "cardiovascular system", + "multicellular organism", + "organ system subdivision", + "All", + "organism subdivision", + "organ", + "myocardium", + "abnormal anatomical entity", + "multicellular anatomical structure", + "material anatomical entity", + "thoracic segment of trunk", + "trunk", + "thoracic segment organ", + "viscus", + "circulatory organ", + "abnormal myocardium morphology", + "Abnormal heart morphology", + "abnormal anatomical entity morphology", "continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "progressive muscular dystrophy", - "integumentary system disorder", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "vesiculobullous skin disease", - "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "inherited epidermolysis bullosa", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of plectin", - "realizable entity", - "syndromic disease", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "myopathy", - "epidermolysis bullosa", + "abnormal cardiovascular system", + "continuant", + "structure with developmental contribution from neural crest", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "Abnormality of cardiovascular system morphology", + "phenotype by ontology source", + "abnormal anatomical entity", "entity", + "compound organ", + "musculature of body", + "Abnormality of the cardiovascular system", + "abnormal heart morphology", + "protein-containing material entity", + "heart", + "thoracic cavity element", + "primary circulatory organ", + "Phenotypic abnormality", + "independent continuant", + "anatomical system", + "mesoderm-derived structure", + "circulatory system", + "heart layer", + "entity", + "abnormal phenotype by ontology source", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:9069||biolink:causes|MONDO:0009181", - "provided_by": "hpoa_gene_to_disease_edges", + "has_evidence": ["ECO:0000269"], + "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_count": 3, + "has_total": 7, + "has_percentage": 42.857143, + "has_quotient": 0.42857143, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0031318", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -447,112 +773,192 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18ac0-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:15710", - "original_subject": "NCBIGene:11155", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "LDB3", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0012277", - "original_object": "OMIM:609452", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "MONDO:0018943", - "MONDO:0019952", - "MONDO:0016190", - "BFO:0000017", - "MONDO:0016186", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", + "id": "uuid:1cc2bd22-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0016108", - "MONDO:0000001", - "MONDO:0002921", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0012277", - "MONDO:0000426", + "BFO:0000002", "MONDO:0018949", - "BFO:0000020", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0100546", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0003847", - "MONDO:0016139", + "OGMS:0000031", + "MONDO:0700223", "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "object_label": "myofibrillar myopathy 4", - "object_closure_label": [ - "qualitative or quantitative defects of myofibrillar proteins", - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "myofibrillar myopathy", - "autosomal dominant disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "congenital structural myopathy", + "hereditary neurological disease", + "musculoskeletal system disorder", "specifically dependent continuant", "disease", "distal myopathy", - "continuant", "skeletal muscle disorder", "neuromuscular disease", - "congenital nervous system disorder", - "entity", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", - "qualitative or quantitative defects of protein ZASP", + "muscular dystrophy", "realizable entity", - "autosomal dominant distal myopathy", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "continuant", "myopathy", - "myofibrillar myopathy 4", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0003687", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "RO:0002577", + "UBERON:0014892", + "UBERON:0002036", + "HP:0011805", + "UPHENO:0002816", + "UPHENO:0076692", + "UBERON:0011216", + "BFO:0000001", + "UBERON:0000061", + "UPHENO:0001001", + "UBERON:0004120", + "HP:0033127", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0000468", + "HP:0000001", + "HP:0004303", + "HP:0003011", + "UBERON:0001134", + "UPHENO:0001002", + "BFO:0000001", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "BFO:0000002", + "BFO:0000002", + "UBERON:0010000", + "CL:0000188", + "UBERON:0001630", + "UBERON:0002385", + "UBERON:0000465", + "UPHENO:0001005", + "BFO:0000020", + "UPHENO:0087047", + "HP:0003687", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "CL:0000000", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0086172", + "HP:0025354", + "UPHENO:0088180", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000479", + "UBERON:0000062", + ], + "object_label": "Centrally nucleated skeletal muscle fibers", + "object_closure_label": [ + "anatomical structure", + "abnormal musculature", + "phenotype", + "Phenotypic abnormality", + "entity", + "material entity", + "organ system subdivision", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "quality", + "multicellular organism", + "All", + "Abnormal muscle fiber morphology", + "specifically dependent continuant", + "tissue", + "organ", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "Abnormal cellular phenotype", + "abnormal cell of skeletal muscle morphology", + "multicellular anatomical structure", + "Abnormality of the musculature", + "cell of skeletal muscle", + "muscle organ", + "muscle tissue", + "Abnormal skeletal muscle morphology", + "Centrally nucleated skeletal muscle fibers", + "material anatomical entity", + "abnormal anatomical entity morphology", + "continuant", + "mesoderm-derived structure", + "skeletal muscle tissue", + "abnormal skeletal muscle tissue morphology", + "musculature of body", + "musculature", + "abnormal anatomical entity", + "abnormal muscle organ morphology", + "system", + "Phenotypic abnormality", + "independent continuant", + "anatomical system", + "cell", + "muscle structure", + "skeletal musculature", + "abnormal cell", + "continuant", + "entity", + "abnormal phenotype by ontology source", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:15710||biolink:causes|MONDO:0012277", - "provided_by": "hpoa_gene_to_disease_edges", + "has_evidence": ["ECO:0000269"], + "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_count": 3, + "has_total": 7, + "has_percentage": 42.857143, + "has_quotient": 0.42857143, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0003687", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -590,113 +996,231 @@ def associations(): "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], }, - { - "id": "uuid:4dc18b2b-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:6636", - "original_subject": "NCBIGene:4000", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "LMNA", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0014676", - "original_object": "OMIM:616516", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "BFO:0000017", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", + { + "id": "uuid:1cc2bd23-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0005267", + "BFO:0000016", + "BFO:0000002", + "MONDO:0018949", "MONDO:0100546", + "BFO:0000017", + "MONDO:0100545", + "MONDO:0002081", "OGMS:0000031", - "MONDO:0004994", - "BFO:0000002", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", - "MONDO:0014676", - "MONDO:0005217", - "BFO:0000016", - "MONDO:0003939", "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", "MONDO:0005336", + "MONDO:0003939", "BFO:0000020", - "MONDO:0016830", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0021106", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0700096", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "laminopathy", - "hereditary disease", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ "nervous system disorder", - "heart disorder", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", + "hereditary neurological disease", + "musculoskeletal system disorder", + "specifically dependent continuant", "disease", + "distal myopathy", "skeletal muscle disorder", "neuromuscular disease", - "specifically dependent continuant", - "progressive muscular dystrophy", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", + "muscular dystrophy", "realizable entity", - "familial dilated cardiomyopathy", "continuant", - "cardiogenetic disease", - "human disease", "myopathy", "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0000365", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0049587", + "UBERON:0000465", + "GO:0007600", + "UBERON:0002105", + "HP:0031704", + "BFO:0000002", + "UPHENO:0001003", + "UBERON:0013702", + "UBERON:0007811", + "UBERON:0000020", + "UPHENO:0052970", + "BFO:0000003", + "BFO:0000002", + "GO:0050877", + "UPHENO:0075696", + "UPHENO:0080377", + "UBERON:0001690", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UPHENO:0001001", + "UPHENO:0002240", + "GO:0032501", + "UBERON:0015203", + "GO:0050954", + "HP:0000598", + "UBERON:0000468", + "HP:0000001", + "PATO:0000001", + "HP:0000365", + "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "HP:0000152", + "UPHENO:0005518", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000001", + "UBERON:0010314", + "UPHENO:0002844", + "BFO:0000015", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0004456", + "GO:0007605", + "UBERON:0000033", + "UPHENO:0052231", + "UPHENO:0001005", + "BFO:0000020", + "BFO:0000001", + "UBERON:0001032", + "UPHENO:0002903", + "UPHENO:0002764", + "UPHENO:0002332", + "GO:0008150", + "UBERON:0000467", + "HP:0000364", + "UPHENO:0050620", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0034923", + "UPHENO:0050625", + "UPHENO:0052178", + "GO:0003008", + "UBERON:0000475", + "UBERON:0000062", + ], + "object_label": "Hearing impairment", + "object_closure_label": [ + "abnormal anatomical entity", + "changed biological_process rate", + "entity", + "body proper", + "craniocervical region", + "sense organ", + "decreased qualitatively sensory perception of sound", + "quality", + "anterior region of body", + "subdivision of organism along main body axis", + "main body axis", + "phenotype", + "Phenotypic abnormality", + "biological_process", + "nervous system process", + "Hearing impairment", + "Abnormality of the ear", + "multicellular organism", + "All", + "specifically dependent continuant", + "occurrent", + "continuant", + "organism subdivision", + "organ", + "vestibulo-auditory system", + "process", + "independent continuant", + "multicellular anatomical structure", + "decreased qualitatively sensory perception of mechanical stimulus", + "anatomical structure", + "disconnected anatomical group", + "entire sense organ system", + "sensory perception of sound", + "head", + "abnormality of anatomical entity physiology", + "abnormal biological_process", + "Abnormality of head or neck", + "abnormal sensory perception of sound", + "decreased qualitatively biological_process", + "abnormal head", + "abnormality of ear physiology", + "multicellular organismal process", + "non-connected functional system", + "abnormal ear", + "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", + "material entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], + "has_evidence": ["ECO:0000269"], + "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], "has_count": None, - "has_total": None, + "has_total": 10, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:6636||biolink:causes|MONDO:0014676", - "provided_by": "hpoa_gene_to_disease_edges", + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0000365", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -735,98 +1259,364 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18a2f-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:15685", - "original_subject": "NCBIGene:11041", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "B4GAT1", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0014120", - "original_object": "OMIM:615287", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0020120", - "MONDO:0019056", + "id": "uuid:1cc2bd25-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", + "BFO:0000016", + "BFO:0000002", + "MONDO:0018949", "MONDO:0100546", + "BFO:0000017", + "MONDO:0100545", + "MONDO:0002081", "OGMS:0000031", - "MONDO:0000001", - "BFO:0000002", - "MONDO:0014120", - "MONDO:0018276", - "MONDO:0000171", - "BFO:0000016", - "MONDO:0003939", "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0002320", + "MONDO:0700096", "BFO:0000001", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0019950", + "MONDO:0024771", "MONDO:0003847", - "MONDO:0700096", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "specifically dependent continuant", "disease", + "distal myopathy", "skeletal muscle disorder", "neuromuscular disease", - "congenital nervous system disorder", - "entity", - "muscular dystrophy-dystroglycanopathy", - "specifically dependent continuant", - "disease", - "muscular dystrophy-dystroglycanopathy, type A", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital muscular dystrophy", + "muscular dystrophy", "realizable entity", - "human disease", + "continuant", "myopathy", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0003691", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "UPHENO:0076703", + "HP:0040064", + "RO:0002577", + "PR:000050567", + "UBERON:0001421", + "UBERON:0010707", + "UBERON:0002428", + "UBERON:0004381", + "UBERON:0007829", + "UPHENO:0001003", + "UPHENO:0079876", + "UBERON:0013702", + "UBERON:0010758", + "UBERON:0004765", + "HP:0011842", + "HP:0011805", + "UPHENO:0001002", + "UPHENO:0002816", + "UPHENO:0076692", + "UBERON:0001434", + "UPHENO:0076740", + "HP:0009121", + "HP:0000782", + "BFO:0000001", + "UBERON:0000061", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UBERON:0000026", + "UBERON:0007823", + "UBERON:0009569", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0002982", + "UPHENO:0020052", + "UBERON:0004120", + "UBERON:0004288", + "UBERON:0002101", + "UBERON:0004710", + "HP:0000765", + "HP:0000924", + "HP:0033127", + "PATO:0000001", + "HP:0040068", + "UPHENO:0022529", + "UPHENO:0086964", + "UPHENO:0002880", + "UPHENO:0002830", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003691", + "HP:0000001", + "HP:0003011", + "UBERON:0010708", + "UBERON:0011138", + "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", + "HP:0000118", + "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:0010000", + "UBERON:0002204", + "UBERON:0001630", + "UBERON:0001443", + "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", + "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_label": "Scapular winging", + "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", + "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", + "muscle organ", + "chest", + "Abnormal skeletal morphology", + "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", + "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", + "Phenotypic abnormality", + "continuant", + "abnormal chest", + "abnormal anatomical entity morphology in the independent continuant", + "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", + "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", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:15685||biolink:causes|MONDO:0014120", - "provided_by": "hpoa_gene_to_disease_edges", + "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", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -865,98 +1655,162 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18b47-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:2666", - "original_subject": "NCBIGene:1605", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "DAG1", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0014683", - "original_object": "OMIM:616538", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0014683", - "MONDO:0019056", - "BFO:0000001", + "id": "uuid:1cc2bd26-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "BFO:0000002", - "MONDO:0018276", - "MONDO:0000171", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0002320", + "BFO:0000002", + "MONDO:0018949", + "MONDO:0100546", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0003847", + "OGMS:0000031", + "MONDO:0700223", "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", "specifically dependent continuant", + "disease", + "distal myopathy", "skeletal muscle disorder", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "neuromuscular disease", - "congenital nervous system disorder", - "muscular dystrophy-dystroglycanopathy", - "disease", - "muscular dystrophy-dystroglycanopathy, type A", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital muscular dystrophy", + "muscular dystrophy", "realizable entity", - "human disease", + "continuant", "myopathy", "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0012548", + "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", + "BFO:0000040", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000002", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", + "UBERON:0000465", + "UPHENO:0001005", + "BFO:0000020", + "UPHENO:0076710", + "HP:0012548", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0000061", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000062", + ], + "object_label": "Fatty replacement of skeletal muscle", + "object_closure_label": [ + "abnormal musculature", + "quality", + "phenotype", + "Phenotypic abnormality", + "entity", + "Abnormality of the musculoskeletal system", + "multicellular organism", + "organ system subdivision", + "All", + "specifically dependent continuant", + "organ", + "independent continuant", + "multicellular anatomical structure", + "Abnormality of the musculature", + "anatomical structure", + "muscle organ", + "Abnormal skeletal muscle morphology", + "material anatomical entity", + "abnormal anatomical entity morphology", + "continuant", + "continuant", + "phenotype by ontology source", + "musculature of body", + "musculature", + "abnormal anatomical entity", + "abnormal muscle organ morphology", + "Fatty replacement of skeletal muscle", + "Phenotypic abnormality", + "anatomical system", + "muscle structure", + "entity", + "abnormal phenotype by ontology source", + "material entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:2666||biolink:causes|MONDO:0014683", - "provided_by": "hpoa_gene_to_disease_edges", + "has_evidence": ["ECO:0000269"], + "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_count": 7, + "has_total": 8, + "has_percentage": 87.5, + "has_quotient": 0.875, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0012548", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -995,108 +1849,246 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18b98-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:2188", - "original_subject": "NCBIGene:1303", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "COL12A1", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0034022", - "original_object": "OMIM:616471", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "MONDO:0019952", + "id": "uuid:1cc2bd28-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0005071", + "BFO:0000016", + "BFO:0000002", + "MONDO:0018949", + "MONDO:0100546", "BFO:0000017", + "MONDO:0100545", + "MONDO:0002081", "OGMS:0000031", + "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", "MONDO:0020120", "MONDO:0019056", - "MONDO:0005071", - "MONDO:0100546", - "MONDO:0008029", - "MONDO:0002254", "MONDO:0000001", - "MONDO:0016106", + ], + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ + "nervous system disorder", + "hereditary neuromuscular disease", + "human disease", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "specifically dependent continuant", + "disease", + "distal myopathy", + "skeletal muscle disorder", + "neuromuscular disease", + "muscular dystrophy", + "realizable entity", + "continuant", + "myopathy", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0009053", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "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:0001001", + "HP:0011804", + "UBERON:0002101", + "UBERON:0004709", + "HP:0001324", + "HP:0003690", + "HP:0033127", + "PATO:0000001", + "UPHENO:0002830", + "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", + "HP:0000118", "BFO:0000002", - "MONDO:0019755", - "MONDO:0034022", - "MONDO:0020066", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "UPHENO:0002536", + "BFO:0000001", + "BFO:0000004", + "UBERON:0015212", + "UBERON:0006058", + "UBERON:0010538", + "HP:0002814", + "UPHENO:0003070", + "BFO:0000002", + "UPHENO:0080555", + "UPHENO:0002647", + "UBERON:0010000", + "UBERON:0001630", "BFO:0000020", - "MONDO:0021147", - "MONDO:0002320", + "UBERON:0000465", + "HP:0009127", "BFO:0000001", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0019950", - "MONDO:0003847", - "MONDO:0700096", + "UBERON:0002103", + "UPHENO:0002332", + "UPHENO:0076710", + "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", ], - "object_label": "Bethlem myopathy 2", + "object_label": "Distal lower limb muscle weakness", "object_closure_label": [ - "hereditary neuromuscular disease", - "developmental defect during embryogenesis", - "disposition", - "hereditary disease", - "nervous system disorder", + "decreased pelvic complex muscle strength", + "specifically dependent continuant", + "Distal muscle weakness", + "entity", + "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", + "organ", + "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", + "material anatomical entity", + "pelvic complex", + "multi-limb segment region", + "paired limb/fin segment", + "abnormal anatomical entity morphology", "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "Bethlem myopathy", - "disorder of development or morphogenesis", - "hereditary skeletal muscle disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital nervous system disorder", + "Abnormal muscle physiology", + "limb", + "pelvic appendage", "entity", - "Bethlem myopathy 2", - "specifically dependent continuant", - "progressive muscular dystrophy", - "Ehlers-Danlos syndrome", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital muscular dystrophy", - "congenital myopathy", - "realizable entity", - "syndromic disease", - "human disease", - "myopathy", + "lateral structure", + "appendage musculature", + "musculature of pelvic complex", + "pelvic complex muscle", + "phenotype by ontology source", + "appendage girdle complex", + "musculature of body", + "musculature", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "abnormal muscle organ morphology", + "system", + "protein-containing material entity", + "Abnormality of the lower limb", + "Phenotypic abnormality", + "continuant", + "abnormal leg", + "independent continuant", + "anatomical system", + "muscle structure", + "skeletal musculature", + "hindlimb", + "Lower limb muscle weakness", + "abnormality of anatomical entity physiology", + "abnormal musculature of limb", + "Abnormality of the musculature of the limbs", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:2188||biolink:causes|MONDO:0034022", - "provided_by": "hpoa_gene_to_disease_edges", + "has_evidence": ["ECO:0000269"], + "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_count": 10, + "has_total": 10, + "has_percentage": 100.0, + "has_quotient": 1.0, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0009053", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -1135,98 +2127,244 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:4dc18b99-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:2188", - "original_subject": "NCBIGene:1303", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "COL12A1", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0014654", - "original_object": "OMIM:616470", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "id": "uuid:1cc2bd2a-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "BFO:0000002", "BFO:0000016", - "MONDO:0014654", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0002320", - "BFO:0000001", + "BFO:0000002", + "MONDO:0018949", + "MONDO:0100546", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0019950", - "MONDO:0003847", + "OGMS:0000031", + "MONDO:0700223", "MONDO:0700096", - "MONDO:0000355", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "object_label": "Ullrich congenital muscular dystrophy 2", - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "Ullrich congenital muscular dystrophy 2", - "hereditary disease", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "subject_closure_label": [ "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", "specifically dependent continuant", + "disease", + "distal myopathy", "skeletal muscle disorder", "neuromuscular disease", - "congenital nervous system disorder", - "entity", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital muscular dystrophy", - "congenital myopathy", + "muscular dystrophy", "realizable entity", - "human disease", - "Ullrich congenital muscular dystrophy", + "continuant", "myopathy", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0008994", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "HP:0040064", + "UBERON:0000465", + "RO:0002577", + "PR:000050567", + "UBERON:0010707", + "UPHENO:0001003", + "UBERON:0000154", + "UBERON:0010758", + "UPHENO:0002320", + "HP:0011805", + "UPHENO:0002816", + "UPHENO:0076692", + "BFO:0000002", + "HP:0001437", + "UBERON:0000026", + "UPHENO:0001001", + "HP:0011804", + "UBERON:0002101", + "UBERON:0004709", + "HP:0001324", + "HP:0003690", + "HP:0033127", + "UPHENO:0002830", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "UPHENO:0002644", + "HP:0003011", + "HP:0008994", + "PATO:0000001", + "UBERON:0010709", + "UBERON:0007271", + "UBERON:0014792", + "UPHENO:0001002", + "UPHENO:0080556", + "BFO:0000001", + "UBERON:0001062", + "UBERON:0002529", + "UBERON:0007270", + "UBERON:0004480", + "HP:0000118", + "UPHENO:0002536", + "UBERON:0015212", + "UBERON:0006058", + "UBERON:0010538", + "HP:0002814", + "BFO:0000002", + "UPHENO:0003070", + "UPHENO:0080555", + "UPHENO:0002647", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", + "UPHENO:0001005", + "HP:0009127", + "BFO:0000020", + "BFO:0000001", + "UBERON:0002103", + "HP:0003701", + "UPHENO:0002332", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0000978", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0004708", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0008784", + "UBERON:0004482", + ], + "object_label": "Proximal muscle weakness in lower limbs", + "object_closure_label": [ + "Abnormality of the musculature of the lower limbs", + "entity", + "posterior region of body", + "subdivision of organism along appendicular axis", + "lower limb segment", + "musculature of lower limb", + "abnormal musculature", + "quality", + "appendage", + "phenotype", + "Phenotypic abnormality", + "decreased muscle organ strength", + "entity", + "material entity", + "Muscle weakness", + "Limb muscle weakness", + "Abnormality of the musculoskeletal system", + "abnormal limb", + "multicellular organism", + "organ system subdivision", + "All", + "abnormal musculature of lower limb", + "specifically dependent continuant", + "continuant", + "organism subdivision", + "organ", + "abnormal anatomical entity", + "independent continuant", + "multicellular anatomical structure", + "limb segment", + "pelvic appendage musculature", + "musculature of limb", + "Abnormality of the musculature", + "Proximal muscle weakness in lower limbs", + "anatomical structure", + "paired limb/fin", + "muscle organ", + "abnormality of muscle organ physiology", + "Abnormal skeletal muscle morphology", + "abnormality of anatomical entity physiology", + "Abnormality of limbs", + "pelvic complex", + "multi-limb segment region", + "paired limb/fin segment", + "abnormal anatomical entity morphology", + "Abnormal muscle physiology", + "limb", + "pelvic appendage", + "lateral structure", + "appendage musculature", + "musculature of pelvic complex", + "Proximal muscle weakness", + "phenotype by ontology source", + "appendage girdle complex", + "musculature of body", + "musculature", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "abnormal muscle organ morphology", + "material anatomical entity", + "system", + "protein-containing material entity", + "leg", + "Abnormality of the lower limb", + "Phenotypic abnormality", + "abnormal leg", + "anatomical system", + "muscle structure", + "hindlimb", + "abnormality of anatomical entity physiology", + "continuant", + "abnormal musculature of limb", + "abnormal phenotype by ontology source", + "Abnormality of the musculature of the limbs", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:omim", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, + "evidence_count": 2, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "HGNC:2188||biolink:causes|MONDO:0014654", - "provided_by": "hpoa_gene_to_disease_edges", + "has_evidence": ["ECO:0000269"], + "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], + "has_count": 3, + "has_total": 10, + "has_percentage": 30.0, + "has_quotient": 0.3, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0008994", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -1265,138 +2403,192 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:b9924b51-6ea7-4d7c-81ed-c84aa27260aa", - "category": "biolink:Association", - "subject": "MONDO:0001347", - "original_subject": None, + "id": "uuid:1cc2bd2b-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100137", - "MONDO:0100546", - "MONDO:0000001", - "MONDO:0016106", - "BFO:0000002", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0001347", - "BFO:0000020", - "MONDO:0019303", - "BFO:0000001", + "BFO:0000002", + "MONDO:0018949", + "MONDO:0100546", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0003847", + "OGMS:0000031", + "MONDO:0700223", "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "subject_label": "facioscapulohumeral muscular dystrophy", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", "subject_closure_label": [ - "telomere syndrome", - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "entity", - "specifically dependent continuant", - "progressive muscular dystrophy", - "facioscapulohumeral muscular dystrophy", - "disease", "hereditary neurological disease", "musculoskeletal system disorder", + "specifically dependent continuant", + "disease", + "distal myopathy", + "skeletal muscle disorder", + "neuromuscular disease", + "muscular dystrophy", "realizable entity", - "human disease", + "continuant", "myopathy", - "premature aging syndrome", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0016106", + "predicate": "biolink:has_phenotype", + "object": "HP:0003805", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "MONDO:0020121", - "BFO:0000017", + "UBERON:0000465", + "RO:0002577", + "UBERON:0014892", + "UBERON:0002036", "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "MONDO:0005071", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0000001", - "MONDO:0016106", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", + "UPHENO:0001003", + "HP:0011805", + "UPHENO:0002816", + "UPHENO:0076692", "BFO:0000001", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0700096", + "UBERON:0000061", + "UPHENO:0001001", + "HP:0033127", + "PATO:0000001", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "HP:0004303", + "HP:0003011", + "UBERON:0001134", + "UPHENO:0001005", + "UPHENO:0001002", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000001", + "BFO:0000004", + "BFO:0000002", + "UBERON:0010000", + "CL:0000188", + "UBERON:0001630", + "UBERON:0002385", + "HP:0003805", + "BFO:0000020", + "UPHENO:0087047", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "CL:0000000", + "UBERON:0005090", + "UBERON:0018254", + "UBERON:0004120", + "UPHENO:0086172", + "HP:0025354", + "UPHENO:0088180", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000479", + "UBERON:0000062", ], - "object_label": "progressive muscular dystrophy", + "object_label": "Rimmed vacuoles", "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", - "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "hereditary skeletal muscle disorder", - "disease", + "anatomical structure", + "abnormal musculature", + "phenotype", + "Phenotypic abnormality", + "material entity", + "abnormal phenotype by ontology source", + "Abnormality of the musculoskeletal system", + "quality", + "multicellular organism", + "organ system subdivision", + "All", + "Abnormal muscle fiber morphology", + "specifically dependent continuant", + "tissue", + "organ", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "Abnormal cellular phenotype", + "abnormal cell of skeletal muscle morphology", + "multicellular anatomical structure", + "Abnormality of the musculature", + "cell of skeletal muscle", + "muscle organ", + "muscle tissue", + "Abnormal skeletal muscle morphology", + "abnormal anatomical entity morphology", + "continuant", "continuant", - "skeletal muscle disorder", - "neuromuscular disease", "entity", - "specifically dependent continuant", - "progressive muscular dystrophy", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "realizable entity", - "human disease", - "myopathy", + "skeletal muscle tissue", + "abnormal skeletal muscle tissue morphology", + "phenotype by ontology source", + "Rimmed vacuoles", + "musculature of body", + "musculature", + "abnormal anatomical entity", + "abnormal muscle organ morphology", + "material anatomical entity", + "system", + "Phenotypic abnormality", + "independent continuant", + "anatomical system", + "cell", + "muscle structure", + "skeletal musculature", + "mesoderm-derived structure", + "abnormal cell", + "entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "MONDO:0001347||biolink:subclass_of|MONDO:0016106", - "provided_by": "phenio_edges", + "evidence_count": 2, + "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": 7, + "has_percentage": 71.42857, + "has_quotient": 0.71428573, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0003805", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -1435,118 +2627,230 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:661c1f3a-f279-4b25-b480-2c951d121616", - "category": "biolink:Association", - "subject": "MONDO:0001347", - "original_subject": None, + "id": "uuid:1cc2bd2c-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100137", - "MONDO:0100546", - "MONDO:0000001", - "MONDO:0016106", - "BFO:0000002", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0001347", - "BFO:0000020", - "MONDO:0019303", - "BFO:0000001", + "BFO:0000002", + "MONDO:0018949", + "MONDO:0100546", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0003847", + "OGMS:0000031", + "MONDO:0700223", "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "subject_label": "facioscapulohumeral muscular dystrophy", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", "subject_closure_label": [ - "telomere syndrome", - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "entity", - "specifically dependent continuant", - "progressive muscular dystrophy", - "facioscapulohumeral muscular dystrophy", - "disease", "hereditary neurological disease", "musculoskeletal system disorder", + "specifically dependent continuant", + "disease", + "distal myopathy", + "skeletal muscle disorder", + "neuromuscular disease", + "muscular dystrophy", "realizable entity", - "human disease", + "continuant", "myopathy", - "premature aging syndrome", + "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0100137", + "predicate": "biolink:has_phenotype", + "object": "HP:0001638", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000017", - "OGMS:0000031", - "MONDO:0100137", - "MONDO:0000001", + "PR:000050567", + "UBERON:0002349", + "HP:0001626", "BFO:0000002", - "BFO:0000016", - "BFO:0000020", - "MONDO:0019303", - "MONDO:0700096", + "UBERON:0009569", + "UBERON:0013702", + "UBERON:0005177", + "UBERON:0003103", + "UPHENO:0076692", + "UBERON:0000064", + "UBERON:0000060", + "UBERON:0004923", + "UPHENO:0077800", + "BFO:0000001", + "UBERON:0000948", + "UBERON:0011676", + "UBERON:0013701", + "UBERON:0004120", + "HP:0001637", + "UPHENO:0001003", + "UBERON:0004535", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "PATO:0000001", + "UBERON:0018260", + "UPHENO:0001002", "BFO:0000001", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "UBERON:0010314", + "UBERON:0000915", + "UBERON:0002100", + "UBERON:0005181", + "UBERON:0002075", + "UBERON:0015228", + "UPHENO:0001001", + "UPHENO:0024906", + "BFO:0000002", + "UPHENO:0080362", + "HP:0001638", + "BFO:0000004", + "UBERON:0010000", + "UPHENO:0087022", + "UPHENO:0076776", + "UBERON:0000465", + "UPHENO:0001005", + "BFO:0000020", + "UBERON:0001009", + "UBERON:0005983", + "HP:0030680", + "UPHENO:0002332", + "UPHENO:0076810", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0005178", + "UBERON:0007100", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0000383", + "UPHENO:0075696", + "UPHENO:0076781", + "HP:0001627", + "UPHENO:0066927", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0015410", ], - "object_label": "telomere syndrome", + "object_label": "Cardiomyopathy", "object_closure_label": [ - "telomere syndrome", - "disposition", - "continuant", - "disease", + "abnormal heart layer morphology", + "abnormal cardiovascular system morphology", + "subdivision of trunk", + "body proper", + "trunk region element", + "compound organ", + "heart plus pericardium", + "quality", + "subdivision of organism along main body axis", + "main body axis", + "Phenotypic abnormality", + "entity", + "material entity", + "organ part", + "anatomical wall", + "organ component layer", + "phenotype by ontology source", + "cardiovascular system", + "multicellular organism", + "organ system subdivision", + "All", "specifically dependent continuant", - "disease", - "realizable entity", - "human disease", + "organism subdivision", + "organ", + "myocardium", + "abnormal anatomical entity", + "independent continuant", + "multicellular anatomical structure", + "anatomical structure", + "abnormality of anatomical entity physiology", + "material anatomical entity", + "thoracic segment of trunk", + "trunk", + "thoracic segment organ", + "viscus", + "circulatory organ", + "abnormal myocardium morphology", + "Abnormal heart morphology", + "abnormal anatomical entity morphology", + "continuant", + "abnormal cardiovascular system", + "Cardiomyopathy", + "mesoderm-derived structure", + "continuant", + "structure with developmental contribution from neural crest", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "Abnormality of cardiovascular system morphology", + "musculature of body", + "Abnormality of the cardiovascular system", + "abnormal anatomical entity", + "abnormal heart morphology", + "protein-containing material entity", + "heart", + "thoracic cavity element", + "primary circulatory organ", + "phenotype", + "Phenotypic abnormality", + "anatomical entity dysfunction in independent continuant", + "anatomical system", + "circulatory system", + "heart layer", + "abnormality of anatomical entity physiology", "entity", - "premature aging syndrome", + "abnormal phenotype by ontology source", + "abnormally decreased functionality of the myocardium", + "abnormally decreased functionality of the anatomical entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "evidence_count": 2, + "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": None, - "has_total": None, + "has_total": 9, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0001347||biolink:subclass_of|MONDO:0100137", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0001638", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -1585,140 +2889,250 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:ee30e06f-959f-4f3b-a360-f751f23d04e5", - "category": "biolink:Association", - "subject": "MONDO:0009181", - "original_subject": None, + "id": "uuid:1cc2bd2e-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0019268", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", "MONDO:0005071", + "BFO:0000016", + "BFO:0000002", + "MONDO:0018949", "MONDO:0100546", + "BFO:0000017", + "MONDO:0100545", + "MONDO:0002081", "OGMS:0000031", - "MONDO:0002254", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0002051", - "MONDO:0100118", - "MONDO:0009181", - "MONDO:0019276", - "MONDO:0005093", - "MONDO:0006617", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", "MONDO:0005336", - "MONDO:0006541", + "MONDO:0003939", "BFO:0000020", - "MONDO:0017610", - "MONDO:0006025", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0016198", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", - "MONDO:0700096", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", "subject_closure_label": [ - "hereditary neuromuscular disease", - "skin disorder", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "epidermal disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "hereditary skin disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", "specifically dependent continuant", - "epidermolysis bullosa simplex", - "autosomal recessive disease", "disease", - "continuant", + "distal myopathy", "skeletal muscle disorder", "neuromuscular disease", - "progressive muscular dystrophy", - "integumentary system disorder", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "vesiculobullous skin disease", - "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "inherited epidermolysis bullosa", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of plectin", + "muscular dystrophy", "realizable entity", - "syndromic disease", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "continuant", "myopathy", - "epidermolysis bullosa", "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0002254", + "predicate": "biolink:has_phenotype", + "object": "HP:0008997", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000017", - "MONDO:0002254", - "MONDO:0000001", + "HP:0040064", + "RO:0002577", + "PR:000050567", + "UBERON:0010707", "BFO:0000002", - "BFO:0000016", + "UPHENO:0001003", + "UBERON:0010758", + "UPHENO:0002320", + "HP:0011805", + "UPHENO:0002816", + "UPHENO:0076692", + "BFO:0000002", + "UBERON:0000153", + "UBERON:0000026", + "UPHENO:0001001", + "HP:0002817", + "HP:0011804", + "UBERON:0002101", + "UBERON:0004710", + "HP:0001324", + "HP:0003690", + "HP:0033127", + "PATO:0000001", + "UPHENO:0002880", + "UPHENO:0002830", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "HP:0003011", + "UBERON:0010708", + "UBERON:0007271", + "UBERON:0014793", + "UPHENO:0001002", + "HP:0008997", + "UPHENO:0080556", + "UBERON:0001062", + "UBERON:0002529", + "UBERON:0007269", + "UBERON:0004480", + "HP:0003484", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000001", + "UBERON:0015212", + "UBERON:0006058", + "UBERON:0010538", + "UPHENO:0080563", + "UPHENO:0080555", + "UPHENO:0002647", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", + "HP:0003325", + "UBERON:0000465", + "UPHENO:0001005", + "HP:0009127", "BFO:0000020", "BFO:0000001", - "MONDO:0700096", + "UBERON:0002102", + "HP:0003701", + "UPHENO:0002332", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0001460", + "UPHENO:0002649", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0004708", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "HP:0001446", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0008785", + "UBERON:0004481", ], - "object_label": "syndromic disease", + "object_label": "Proximal muscle weakness in upper limbs", "object_closure_label": [ - "disposition", - "continuant", "entity", + "subdivision of organism along appendicular axis", + "upper limb segment", + "musculature of upper limb", + "abnormal musculature", + "anterior region of body", + "appendage", + "phenotype", + "Phenotypic abnormality", + "Proximal muscle weakness in upper limbs", + "decreased muscle organ strength", + "material entity", + "Muscle weakness", + "Limb muscle weakness", + "Abnormality of the musculoskeletal system", + "quality", + "abnormal arm", + "abnormal limb", + "multicellular organism", + "organ system subdivision", + "All", "specifically dependent continuant", - "disease", - "realizable entity", - "syndromic disease", - "human disease", + "continuant", + "organism subdivision", + "organ", + "abnormal anatomical entity", + "independent continuant", + "multicellular anatomical structure", + "limb segment", + "pectoral appendage musculature", + "musculature of limb", + "Limb-girdle muscle weakness", + "Abnormality of the musculature", + "anatomical structure", + "paired limb/fin", + "muscle organ", + "abnormality of muscle organ physiology", + "Abnormal skeletal muscle morphology", + "abnormality of anatomical entity physiology", + "Abnormality of limbs", + "material anatomical entity", + "pectoral complex", + "multi-limb segment region", + "paired limb/fin segment", + "Upper limb muscle weakness", + "Abnormality of the musculature of the upper limbs", + "abnormal anatomical entity morphology", + "decreased musculature of upper limb strength", + "Abnormality of the upper limb", + "Abnormal muscle physiology", + "limb", + "pectoral appendage", + "continuant", + "entity", + "lateral structure", + "appendage musculature", + "musculature of pectoral complex", + "Proximal muscle weakness", + "phenotype by ontology source", + "appendage girdle complex", + "musculature of body", + "musculature", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "abnormal muscle organ morphology", + "system", + "protein-containing material entity", + "arm", + "Phenotypic abnormality", + "anatomical system", + "muscle structure", + "forelimb", + "abnormal musculature of upper limb", + "abnormality of anatomical entity physiology", + "abnormal musculature of limb", + "abnormal phenotype by ontology source", + "Abnormality of the musculature of the limbs", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "MONDO:0009181||biolink:subclass_of|MONDO:0002254", - "provided_by": "phenio_edges", + "evidence_count": 2, + "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": 6, + "has_total": 10, + "has_percentage": 60.0, + "has_quotient": 0.6, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0008997", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -1757,172 +3171,244 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:92e4af9c-868d-498d-845b-22b84bab28df", - "category": "biolink:Association", - "subject": "MONDO:0009181", - "original_subject": None, + "id": "uuid:1cc2bd2f-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "original_subject": "OMIM:301075", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0019268", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", "MONDO:0005071", + "BFO:0000016", + "BFO:0000002", + "MONDO:0018949", "MONDO:0100546", + "BFO:0000017", + "MONDO:0100545", + "MONDO:0002081", "OGMS:0000031", - "MONDO:0002254", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0002051", - "MONDO:0100118", - "MONDO:0009181", - "MONDO:0019276", - "MONDO:0005093", - "MONDO:0006617", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0024771", + "MONDO:0003847", + "MONDO:0020121", "MONDO:0005336", - "MONDO:0006541", + "MONDO:0003939", "BFO:0000020", - "MONDO:0017610", - "MONDO:0006025", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0016198", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", - "MONDO:0700096", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", ], - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", "subject_closure_label": [ - "hereditary neuromuscular disease", - "skin disorder", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "epidermal disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "hereditary skin disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", "specifically dependent continuant", - "epidermolysis bullosa simplex", - "autosomal recessive disease", "disease", - "continuant", + "distal myopathy", "skeletal muscle disorder", "neuromuscular disease", - "progressive muscular dystrophy", - "integumentary system disorder", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "vesiculobullous skin disease", - "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "inherited epidermolysis bullosa", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of plectin", + "muscular dystrophy", "realizable entity", - "syndromic disease", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "continuant", "myopathy", - "epidermolysis bullosa", "entity", + "myopathy, distal, 7, adult-onset, X-linked", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0015152", + "predicate": "biolink:has_phenotype", + "object": "HP:0003557", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "MONDO:0020121", - "BFO:0000017", + "UBERON:0000465", + "RO:0002577", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", + "UPHENO:0085135", + "HP:0011805", + "UPHENO:0002816", + "UPHENO:0076692", + "UPHENO:0077801", + "CL:0000228", + "CL:0008002", + "CL:0000393", + "HP:0003557", + "UPHENO:0075195", + "UPHENO:0086462", "BFO:0000001", - "MONDO:0005071", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "UBERON:0000061", + "UPHENO:0001001", + "UBERON:0004120", + "UPHENO:0084928", + "HP:0025461", + "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", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UPHENO:0015280", + "BFO:0000002", + "HP:0012084", + "UBERON:0010000", + "CL:0002242", + "CL:0000188", + "CL:0000211", + "CL:0000183", + "UBERON:0001630", + "UBERON:0002385", + "BFO:0000001", + "GO:0005575", + "UPHENO:0001005", "BFO:0000020", - "MONDO:0006025", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0700096", + "UPHENO:0086457", + "UPHENO:0020584", + "UPHENO:0085097", + "UPHENO:0087047", + "UPHENO:0006889", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "CL:0000000", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0086172", + "HP:0025354", + "UPHENO:0088180", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000479", + "UBERON:0000062", ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy", + "object_label": "Increased variability in muscle fiber diameter", "object_closure_label": [ - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", - "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "hereditary skeletal muscle disorder", + "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", - "autosomal recessive disease", - "disease", + "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", + "multicellular anatomical structure", + "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", - "skeletal muscle disorder", - "neuromuscular disease", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "realizable entity", - "autosomal genetic disease", - "human disease", - "myopathy", + "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", + "material anatomical entity", + "system", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the independent continuant", + "independent continuant", + "anatomical system", + "cell", + "muscle structure", + "skeletal musculature", + "abnormal cell", "entity", + "abnormal phenotype by ontology source", + "Increased variability in muscle fiber diameter", + "abnormal size of anatomical entity", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "MONDO:0009181||biolink:subclass_of|MONDO:0015152", - "provided_by": "phenio_edges", + "evidence_count": 2, + "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": 7, + "has_percentage": 71.42857, + "has_quotient": 0.71428573, + "grouping_key": "MONDO:0024771||biolink:has_phenotype|HP:0003557", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:33974137"], + "publications_links": [{"id": "PMID:33974137", "url": "http://identifiers.org/pubmed/33974137"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -1961,147 +3447,289 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:3813ba53-1bd5-4456-bb6c-10ac0a46fb31", - "category": "biolink:Association", - "subject": "MONDO:0009181", - "original_subject": None, + "id": "uuid:1ccfb835-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0019268", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", "MONDO:0005071", + "BFO:0000016", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", "MONDO:0100546", "OGMS:0000031", - "MONDO:0002254", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0002051", - "MONDO:0100118", - "MONDO:0009181", - "MONDO:0019276", - "MONDO:0005093", - "MONDO:0006617", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0006541", - "BFO:0000020", - "MONDO:0017610", - "MONDO:0006025", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016198", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "skin disorder", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "epidermal disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "hereditary skin disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", "specifically dependent continuant", - "epidermolysis bullosa simplex", - "autosomal recessive disease", - "disease", - "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", - "progressive muscular dystrophy", - "integumentary system disorder", - "autosomal recessive limb-girdle muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "vesiculobullous skin disease", - "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "inherited epidermolysis bullosa", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of plectin", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "syndromic disease", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "metabolic disease", + "continuant", "myopathy", - "epidermolysis bullosa", + "congenital nervous system disorder", "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0016198", + "predicate": "biolink:has_phenotype", + "object": "HP:0007759", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005071", - "MONDO:0000001", + "HP:0000234", + "PR:000050567", + "UBERON:0002104", + "UPHENO:0001003", + "HP:0011492", + "UPHENO:0087232", + "UBERON:0001444", + "UBERON:0013702", + "UBERON:0007811", + "UBERON:0000020", + "UPHENO:0020998", + "UPHENO:0076692", "BFO:0000002", - "BFO:0000016", + "UBERON:0000064", + "UBERON:0001801", + "UBERON:0000060", + "UBERON:0004923", + "UBERON:0003891", + "UBERON:0000063", + "HP:0004328", + "UBERON:0000019", + "UBERON:0010313", + "UBERON:0010230", + "UBERON:0010409", + "UBERON:0000153", + "UBERON:0011676", + "UBERON:0013701", + "UBERON:0015203", + "UPHENO:0075997", + "HP:0012372", + "UPHENO:0087472", + "PATO:0000001", + "UBERON:0012430", + "UBERON:0000964", + "UBERON:0000468", + "HP:0000315", + "HP:0000001", + "UPHENO:0003020", + "UPHENO:0087597", + "UBERON:0001777", + "UPHENO:0086589", + "UPHENO:0001002", + "HP:0000271", + "UBERON:0001062", + "HP:0000152", + "UPHENO:0087907", + "UPHENO:0002910", + "HP:0000478", + "UPHENO:0087924", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000001", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0004121", + "UBERON:0000970", + "UPHENO:0001001", + "BFO:0000002", + "UPHENO:0015280", + "UPHENO:0021474", + "UPHENO:0002844", + "HP:0000481", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0004456", + "UBERON:0000033", + "UBERON:0004088", + "UBERON:0001456", + "UBERON:0000465", + "UPHENO:0001005", "BFO:0000020", - "MONDO:0100545", - "MONDO:0016198", - "MONDO:0003847", - "MONDO:0016139", - "MONDO:0700096", + "UPHENO:0020584", "BFO:0000001", + "UBERON:0001032", + "HP:0007957", + "UPHENO:0002764", + "UPHENO:0087577", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0000047", + "UPHENO:0088026", + "HP:0007759", + "UBERON:0000061", + "UBERON:0034923", + "UPHENO:0075696", + "UPHENO:0021038", + "UBERON:0000475", + "UBERON:0000062", ], - "object_label": "qualitative or quantitative defects of plectin", + "object_label": "Opacification of the corneal stroma", "object_closure_label": [ - "disposition", - "hereditary disease", - "nervous system disorder", - "continuant", - "disease", + "Abnormal anterior eye segment morphology", + "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", + "multicellular organism", + "Abnormality of the orbital region", + "All", "specifically dependent continuant", - "disease", - "hereditary neurological disease", - "qualitative or quantitative defects of plectin", - "realizable entity", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "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", + "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", + "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": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "evidence_count": 1, + "knowledge_level": "knowledge_assertion", + "agent_type": "manual_agent", + "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:0009181||biolink:subclass_of|MONDO:0016198", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0007759", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, "publications": [], "publications_links": [], @@ -2143,155 +3771,297 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:08fa632e-5424-4d36-a178-76151d323505", - "category": "biolink:Association", - "subject": "MONDO:0009181", - "original_subject": None, + "id": "uuid:1ccfb836-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "MONDO:0019268", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", "MONDO:0005071", + "BFO:0000016", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", "MONDO:0100546", "OGMS:0000031", - "MONDO:0002254", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0002051", - "MONDO:0100118", - "MONDO:0009181", - "MONDO:0019276", - "MONDO:0005093", - "MONDO:0006617", - "MONDO:0015152", - "MONDO:0000429", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0006541", - "BFO:0000020", - "MONDO:0017610", - "MONDO:0006025", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016198", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "skin disorder", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "epidermal disease", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "hereditary skin disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", "specifically dependent continuant", - "epidermolysis bullosa simplex", - "autosomal recessive disease", - "disease", - "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", - "progressive muscular dystrophy", - "integumentary system disorder", - "autosomal recessive limb-girdle muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "vesiculobullous skin disease", - "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "inherited epidermolysis bullosa", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of plectin", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "syndromic disease", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "metabolic disease", + "continuant", "myopathy", - "epidermolysis bullosa", + "congenital nervous system disorder", "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0017610", + "predicate": "biolink:has_phenotype", + "object": "HP:0000486", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000017", - "MONDO:0019268", + "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", - "OGMS:0000031", + "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", + "UBERON:0001062", + "BFO:0000141", + "UBERON:0006800", + "UPHENO:0080585", + "HP:0000152", + "UPHENO:0002910", + "HP:0000478", + "HP:0000118", "BFO:0000002", - "MONDO:0000001", - "MONDO:0002051", - "MONDO:0100118", - "MONDO:0019276", - "MONDO:0005093", - "MONDO:0006617", - "BFO:0000016", - "MONDO:0006541", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0000970", + "UPHENO:0001001", + "BFO:0000002", + "UBERON:0010222", + "UPHENO:0002844", + "HP:0000496", + "BFO:0000015", + "UBERON:0004121", + "UBERON:0010000", + "UBERON:0001016", + "UBERON:0004456", + "NBO:0000444", + "UBERON:0000033", + "UBERON:0004088", + "UBERON:0001456", + "UPHENO:0049622", + "UPHENO:0002433", + "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0002219", "BFO:0000020", - "MONDO:0017610", - "MONDO:0003847", - "MONDO:0700096", + "HP:0000486", + "UBERON:0001032", + "UPHENO:0002764", + "UPHENO:0002332", + "HP:0000549", + "GO:0008150", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0000047", + "UPHENO:0082875", + "HP:0000708", + "UBERON:0034923", + "UPHENO:0075696", + "UPHENO:0080581", + "GO:0007610", + "UBERON:0000475", + "UBERON:0000062", ], - "object_label": "epidermolysis bullosa simplex", + "object_label": "Strabismus", "object_closure_label": [ - "skin disorder", - "disposition", - "hereditary disease", - "epidermal disease", - "hereditary skin disorder", + "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", + "entity", + "biological_process", + "material entity", + "behavior process", + "quality", + "non-material anatomical boundary", + "multicellular organism", + "Abnormality of the orbital region", + "All", "specifically dependent continuant", - "epidermolysis bullosa simplex", - "disease", - "integumentary system disorder", - "disease", - "vesiculobullous skin disease", - "inherited epidermolysis bullosa", - "realizable entity", + "Strabismus", + "occurrent", + "organism subdivision", + "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", + "material anatomical entity", + "eye", + "abnormal behavior process", + "Abnormality of head or neck", + "abnormal face", + "Abnormality of the eye", + "abnormal eye movement", "continuant", - "human disease", - "epidermolysis bullosa", + "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", + "continuant", + "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", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "evidence_count": 1, + "knowledge_level": "knowledge_assertion", + "agent_type": "manual_agent", + "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:0009181||biolink:subclass_of|MONDO:0017610", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000486", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, "publications": [], "publications_links": [], @@ -2333,139 +4103,291 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:f565c914-5f8c-4f5c-8a3d-587411e16d9a", - "category": "biolink:Association", - "subject": "MONDO:0008409", - "original_subject": None, + "id": "uuid:1ccfb837-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0000727", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0008409", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0016830", - "BFO:0000020", - "MONDO:0002320", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016195", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "congenital myopathy 7A, myosin storage, autosomal dominant", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", + "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 nervous system disorder", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0002320", + "predicate": "biolink:has_phenotype", + "object": "HP:0000485", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000017", + "HP:0000234", + "PR:000050567", + "UBERON:0002104", "BFO:0000002", - "MONDO:0005071", - "OGMS:0000031", - "MONDO:0000001", - "BFO:0000016", - "BFO:0000020", - "MONDO:0002320", + "UPHENO:0001003", + "UPHENO:0087232", + "UBERON:0001444", + "UBERON:0013702", + "UBERON:0007811", + "UBERON:0000020", + "UPHENO:0020998", + "UPHENO:0001002", + "HP:0000485", + "UPHENO:0076692", + "BFO:0000002", + "UBERON:0000064", + "UBERON:0001801", + "UBERON:0000060", + "UBERON:0004923", + "UBERON:0000063", + "HP:0004328", + "UPHENO:0075195", + "UPHENO:0075222", "BFO:0000001", - "MONDO:0700096", + "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", + "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", + "UPHENO:0002536", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0001456", + "UBERON:0000970", + "UPHENO:0001001", + "UPHENO:0015280", + "UPHENO:0021474", + "UPHENO:0002844", + "UPHENO:0065599", + "HP:0000481", + "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", ], - "object_label": "congenital nervous system disorder", + "object_label": "Megalocornea", "object_closure_label": [ - "disposition", - "nervous system disorder", + "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", + "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", + "multicellular organism", + "Abnormality of the orbital region", + "All", "specifically dependent continuant", - "disease", + "abnormal anatomical entity morphology", "continuant", - "congenital nervous system disorder", + "organism subdivision", + "organ", + "visual system", + "Abnormality of corneal size", + "abnormal anatomical entity", + "increased size of the cornea", + "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", - "disease", - "realizable entity", - "human disease", + "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:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "evidence_count": 1, + "knowledge_level": "knowledge_assertion", + "agent_type": "manual_agent", + "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:0008409||biolink:subclass_of|MONDO:0002320", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000485", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, "publications": [], "publications_links": [], @@ -2507,229 +4429,195 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:abdf756e-4ab2-4892-a92e-d7700c001683", + "id": "uuid:1ccfb839-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008409", - "original_subject": None, + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0000727", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0008409", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0016830", - "BFO:0000020", - "MONDO:0002320", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016195", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "congenital myopathy 7A, myosin storage, autosomal dominant", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", + "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 nervous system disorder", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0100306", + "object": "HP:0002187", "original_object": None, "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": [ - "UPHENO:0076692", - "BFO:0000002", - "UPHENO:0001001", - "RO:0002577", - "UBERON:0014892", - "UBERON:0002036", - "UPHENO:0002816", - "PATO:0000001", - "HP:0000001", - "HP:0004303", - "HP:0000118", - "UPHENO:0001003", - "HP:0100306", - "UBERON:0000479", - "UBERON:0000062", - "UPHENO:0086172", - "HP:0100299", - "HP:0100303", - "UBERON:0000467", - "CL:0000000", - "UBERON:0005090", - "UBERON:0018254", - "UBERON:0004120", - "BFO:0000002", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "GO:0050890", + "UPHENO:0001003", + "HP:0012638", + "BFO:0000003", + "GO:0050877", + "UBERON:0001016", + "UPHENO:0004523", "BFO:0000001", - "GO:0110165", - "UBERON:0000061", + "HP:0012759", + "GO:0032501", + "HP:0100543", + "PATO:0000001", "UBERON:0000468", - "UBERON:0011216", - "HP:0003011", - "UPHENO:0002536", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0001134", - "HP:0011805", + "HP:0000001", + "HP:0011446", "UPHENO:0001002", - "UPHENO:0076710", + "HP:0000707", "BFO:0000040", "UBERON:0001062", - "UPHENO:0001005", - "BFO:0000020", - "HP:0025354", - "UPHENO:0088180", - "UBERON:0010000", - "CL:0000188", - "UBERON:0001630", - "UBERON:0002385", - "GO:0005622", - "HP:0033127", - "GO:0016234", + "HP:0000118", + "UPHENO:0002536", + "HP:0002187", + "UPHENO:0001001", + "BFO:0000002", + "BFO:0000002", + "BFO:0000015", "BFO:0000004", - "UPHENO:0087047", + "UBERON:0010000", + "HP:0001249", + "BFO:0000020", + "UPHENO:0002433", "BFO:0000001", - "GO:0005575", "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0002332", + "GO:0008150", + "UBERON:0000467", + "UPHENO:0082875", + "UBERON:0000061", + "UPHENO:0075696", + "GO:0003008", ], - "object_label": "Muscle fiber hyaline bodies", + "object_label": "Intellectual disability, profound", "object_closure_label": [ - "phenotype", - "abnormal musculature", - "skeletal muscle organ, vertebrate", - "striated muscle tissue", - "Abnormal skeletal muscle morphology", + "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", + "Abnormal nervous system physiology", + "anatomical structure", + "abnormality of anatomical entity physiology", + "material anatomical entity", "continuant", - "continuant", - "cell of skeletal muscle", - "muscle organ", - "muscle tissue", - "Abnormality of the musculature", - "abnormal anatomical entity morphology", - "All", - "Abnormal muscle fiber morphology", - "Abnormal cellular phenotype", - "abnormal cell of skeletal muscle morphology", + "Neurodevelopmental abnormality", + "multicellular organismal process", + "phenotype by ontology source", "entity", + "system process", + "cognition", + "abnormal anatomical entity", + "Intellectual disability, profound", + "phenotype", "Phenotypic abnormality", - "Muscle fiber cytoplasmatic inclusion bodies", - "specifically dependent continuant", - "intracellular anatomical structure", - "skeletal muscle tissue", + "anatomical system", + "abnormality of anatomical entity physiology", + "continuant", + "entity", "abnormal phenotype by ontology source", - "abnormal anatomical entity", - "system", - "multicellular organism", - "organ system subdivision", - "abnormal cell", - "Muscle fiber inclusion bodies", "material entity", "anatomical entity", - "Abnormality of the musculoskeletal system", - "tissue", - "organ", - "musculature of body", - "musculature", - "phenotype by ontology source", - "Muscle fiber hyaline bodies", - "quality", - "Phenotypic abnormality", - "entity", - "cellular anatomical entity", - "anatomical structure", - "inclusion body", - "abnormal skeletal muscle tissue morphology", - "abnormal muscle organ morphology", - "cellular_component", - "material anatomical entity", - "independent continuant", - "anatomical system", - "cell", - "muscle structure", - "skeletal musculature", - "mesoderm-derived structure", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "evidence_count": 1, + "knowledge_level": "knowledge_assertion", + "agent_type": "manual_agent", + "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:0008409||biolink:has_phenotype|HP:0100306", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0002187", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, "publications": [], "publications_links": [], @@ -2771,179 +4659,193 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:c5e240ac-891c-4817-8967-afa1761b2cd9", - "category": "biolink:Association", - "subject": "MONDO:0008409", - "original_subject": None, + "id": "uuid:1ccfb83a-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0000727", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0008409", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0016830", - "BFO:0000020", - "MONDO:0002320", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016195", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "congenital myopathy 7A, myosin storage, autosomal dominant", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", + "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 nervous system disorder", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0000727", + "predicate": "biolink:has_phenotype", + "object": "HP:0006829", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", + "UPHENO:0082555", "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", + "UPHENO:0001003", + "UPHENO:0002320", + "UPHENO:0002816", + "UPHENO:0082557", "BFO:0000001", - "MONDO:0005071", - "MONDO:0005267", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0000727", - "MONDO:0016106", - "MONDO:0000591", - "MONDO:0005217", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "HP:0011804", + "HP:0033127", + "UBERON:0000468", + "UBERON:0011216", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "HP:0003808", + "UPHENO:0001002", + "HP:0006829", + "BFO:0000001", + "UBERON:0001062", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UPHENO:0001001", + "BFO:0000002", + "UBERON:0010000", + "UBERON:0001630", "BFO:0000020", - "MONDO:0016830", - "MONDO:0100545", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0700096", + "UBERON:0000465", + "UPHENO:0001005", + "UPHENO:0002332", + "HP:0001252", + "BFO:0000040", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", + "UBERON:0000061", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000062", ], - "object_label": "scapuloperoneal myopathy", + "object_label": "Severe muscular hypotonia", "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", - "nervous system disorder", - "heart disorder", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", - "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "continuant", - "skeletal muscle disorder", - "neuromuscular disease", "specifically dependent continuant", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", - "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "human disease", - "myopathy", + "decreased muscle organ tone", + "decreased anatomical entity tone", + "abnormal musculature", + "quality", + "Phenotypic abnormality", + "Severe muscular hypotonia", + "entity", + "material entity", + "Abnormal muscle tone", + "Abnormality of the musculoskeletal system", + "multicellular organism", + "organ system subdivision", + "All", + "organ", + "abnormal anatomical entity", + "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", + "continuant", + "Abnormal muscle physiology", + "continuant", + "phenotype by ontology source", + "musculature of body", + "musculature", + "abnormal anatomical entity", + "phenotype", + "Phenotypic abnormality", + "independent continuant", + "anatomical system", + "muscle structure", + "abnormality of anatomical entity physiology", "entity", + "abnormal phenotype by ontology source", + "anatomical entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "evidence_count": 1, + "knowledge_level": "knowledge_assertion", + "agent_type": "manual_agent", + "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:0008409||biolink:subclass_of|MONDO:0000727", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0006829", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, "publications": [], "publications_links": [], @@ -2985,148 +4887,366 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:d3b50567-68b8-4aef-aea3-8d9d26d88d19", - "category": "biolink:Association", - "subject": "MONDO:0008409", - "original_subject": None, + "id": "uuid:1ccfb83c-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0000727", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0008409", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0016830", - "BFO:0000020", - "MONDO:0002320", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016195", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "congenital myopathy 7A, myosin storage, autosomal dominant", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", + "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 nervous system disorder", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0016195", + "predicate": "biolink:has_phenotype", + "object": "HP:0003194", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "BFO:0000017", - "OGMS:0000031", + "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", + "HP:0033127", + "UPHENO:0022529", + "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", + "HP:0000118", + "UPHENO:0002536", "BFO:0000001", - "MONDO:0005071", - "MONDO: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", - "BFO:0000016", + "UPHENO:0002844", + "UPHENO:0087089", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0004456", + "UBERON:0002204", + "UBERON:0000033", + "UBERON:0004089", + "HP:0010937", + "UPHENO:0084457", + "UBERON:0000465", + "UPHENO:0001005", + "HP:0000422", "BFO:0000020", - "MONDO:0100545", - "MONDO:0016195", - "MONDO:0003847", - "MONDO:0016139", - "MONDO:0700096", + "UPHENO:0020584", + "BFO:0000001", + "UBERON:0001032", + "UPHENO:0087278", + "UPHENO:0002764", + "UPHENO:0046529", + "UPHENO:0088186", + "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", ], - "object_label": "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "object_label": "Short nasal bridge", "object_closure_label": [ - "disposition", - "hereditary disease", - "nervous system disorder", - "continuant", - "disease", + "decreased length of anatomical entity in independent continuant", + "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", + "multicellular organism", + "organ system subdivision", + "All", "specifically dependent continuant", - "disease", - "hereditary neurological disease", - "realizable entity", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "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", + "anatomical collection", + "entire sense organ system", + "musculoskeletal system", + "head", + "midface", + "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", + "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", + "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", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0016195", - "provided_by": "phenio_edges", + "evidence_count": 2, + "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", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": [], - "publications_links": [], + "publications": ["PMID:15236414"], + "publications_links": [{"id": "PMID:15236414", "url": "http://identifiers.org/pubmed/15236414"}], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -3165,149 +5285,369 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "urn:uuid:45eda7c7-f0d0-441b-9fb4-e09cb00fba8b", - "category": "biolink:Association", - "subject": "MONDO:0008409", - "original_subject": None, + "id": "uuid:1ccfb83e-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0000727", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0008409", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "MONDO:0016830", - "BFO:0000020", - "MONDO:0002320", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016195", - "MONDO:0003847", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939", ], - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "subject_closure_label": [ - "hereditary neuromuscular disease", - "congenital myopathy 7A, myosin storage, autosomal dominant", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", - "Emery-Dreifuss muscular dystrophy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", + "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 nervous system disorder", - "scapuloperoneal myopathy", - "progressive muscular dystrophy", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type A", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease", ], "subject_taxon": None, "subject_taxon_label": None, - "predicate": "biolink:subclass_of", - "object": "MONDO:0019952", + "predicate": "biolink:has_phenotype", + "object": "HP:0000639", "original_object": None, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", + "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", "BFO:0000001", - "MONDO:0000001", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "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: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", + "HP:0000118", + "UPHENO:0002536", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0000970", + "BFO:0000002", + "BFO:0000002", + "HP:0100022", + "UPHENO:0002844", + "HP:0011389", + "HP:0000496", + "UPHENO:0079833", + "BFO:0000015", + "BFO:0000004", + "UBERON:0004121", + "UBERON:0010000", + "UBERON:0004456", + "NBO:0000388", + "NBO:0000444", + "UBERON:0000033", + "UBERON:0004088", + "UBERON:0001456", + "UPHENO:0049622", "BFO:0000020", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0700096", + "UPHENO:0002433", + "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: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", ], - "object_label": "congenital myopathy", + "object_label": "Nystagmus", "object_closure_label": [ - "disposition", - "hereditary disease", - "muscle tissue disorder", - "disease", - "hereditary skeletal muscle disorder", - "continuant", - "skeletal muscle disorder", + "abnormal voluntary movement behavior", + "abnormal response to stimulus", "specifically dependent continuant", - "disease", - "musculoskeletal system disorder", - "congenital myopathy", - "realizable entity", - "human disease", - "myopathy", + "abnormality of nervous system physiology", + "abnormal behavior process", + "abnormal nervous system", + "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", + "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", + "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", + "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", + "Phenotypic abnormality", + "anatomical system", + "sensory system", + "abnormality of anatomical entity physiology", + "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", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": None, "pathway": None, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "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_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, "publications": [], "publications_links": [], diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py index 7851080ac..0f73740e6 100644 --- a/backend/tests/fixtures/associations_compact.py +++ b/backend/tests/fixtures/associations_compact.py @@ -6,186 +6,186 @@ def associations_compact(): return { "limit": 20, "offset": 0, - "total": 4965, + "total": 5013, "items": [ { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:26267", - "subject_label": "POMK", - "predicate": "biolink:causes", - "object": "MONDO:0014101", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0001290", + "object_label": "Generalized hypotonia", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:10805", - "subject_label": "SGCA", - "predicate": "biolink:causes", - "object": "MONDO:0011968", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0000545", + "object_label": "Myopia", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:9069", - "subject_label": "PLEC", - "predicate": "biolink:causes", - "object": "MONDO:0009181", - "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0031318", + "object_label": "Myofiber disarray", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:15710", - "subject_label": "LDB3", - "predicate": "biolink:causes", - "object": "MONDO:0012277", - "object_label": "myofibrillar myopathy 4", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0003687", + "object_label": "Centrally nucleated skeletal muscle fibers", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:6636", - "subject_label": "LMNA", - "predicate": "biolink:causes", - "object": "MONDO:0014676", - "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0000365", + "object_label": "Hearing impairment", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:15685", - "subject_label": "B4GAT1", - "predicate": "biolink:causes", - "object": "MONDO:0014120", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0003691", + "object_label": "Scapular winging", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:2666", - "subject_label": "DAG1", - "predicate": "biolink:causes", - "object": "MONDO:0014683", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0012548", + "object_label": "Fatty replacement of skeletal muscle", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:2188", - "subject_label": "COL12A1", - "predicate": "biolink:causes", - "object": "MONDO:0034022", - "object_label": "Bethlem myopathy 2", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0009053", + "object_label": "Distal lower limb muscle weakness", "negated": None, }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:2188", - "subject_label": "COL12A1", - "predicate": "biolink:causes", - "object": "MONDO:0014654", - "object_label": "Ullrich congenital muscular dystrophy 2", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0008994", + "object_label": "Proximal muscle weakness in lower limbs", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0001347", - "subject_label": "facioscapulohumeral muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0016106", - "object_label": "progressive muscular dystrophy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0003805", + "object_label": "Rimmed vacuoles", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0001347", - "subject_label": "facioscapulohumeral muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0100137", - "object_label": "telomere syndrome", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0001638", + "object_label": "Cardiomyopathy", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0009181", - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0002254", - "object_label": "syndromic disease", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0008997", + "object_label": "Proximal muscle weakness in upper limbs", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0009181", - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0015152", - "object_label": "autosomal recessive limb-girdle muscular dystrophy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0003557", + "object_label": "Increased variability in muscle fiber diameter", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0009181", - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0016198", - "object_label": "qualitative or quantitative defects of plectin", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0007759", + "object_label": "Opacification of the corneal stroma", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0009181", - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0017610", - "object_label": "epidermolysis bullosa simplex", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0000486", + "object_label": "Strabismus", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", - "predicate": "biolink:subclass_of", - "object": "MONDO:0002320", - "object_label": "congenital nervous system disorder", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0000485", + "object_label": "Megalocornea", "negated": None, }, { "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", "predicate": "biolink:has_phenotype", - "object": "HP:0100306", - "object_label": "Muscle fiber hyaline bodies", + "object": "HP:0002187", + "object_label": "Intellectual disability, profound", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", - "predicate": "biolink:subclass_of", - "object": "MONDO:0000727", - "object_label": "scapuloperoneal myopathy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0006829", + "object_label": "Severe muscular hypotonia", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", - "predicate": "biolink:subclass_of", - "object": "MONDO:0016195", - "object_label": "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0003194", + "object_label": "Short nasal bridge", "negated": None, }, { - "category": "biolink:Association", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", - "predicate": "biolink:subclass_of", - "object": "MONDO:0019952", - "object_label": "congenital myopathy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0000639", + "object_label": "Nystagmus", "negated": None, }, ], diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py index 98ce12c35..e5b219e73 100644 --- a/backend/tests/fixtures/autocomplete.py +++ b/backend/tests/fixtures/autocomplete.py @@ -114,114 +114,97 @@ def autocomplete(): "Male infertility", ], "has_phenotype_closure": [ - "HP:0003254", - "HP:0003213", - "UPHENO:0049964", - "UPHENO:0051124", "GO:0051716", "GO:0006950", - "GO:0051319", + "HP:0003213", + "UPHENO:0051124", + "HP:0003254", + "UPHENO:0049964", "GO:0007049", - "GO:0050954", - "HP:0000598", - "GO:0007605", + "GO:0051319", "UPHENO:0050625", "HP:0000364", + "GO:0007605", "UPHENO:0005518", + "HP:0000598", + "GO:0050954", "UPHENO:0052970", "UBERON:0002105", - "NBO:0000338", - "UPHENO:0049586", - "HP:0000708", - "UPHENO:0049622", "GO:0007610", - "HP:0000486", - "UBERON:0006800", - "BFO:0000141", + "HP:0000708", "HP:0000549", - "HP:0000496", + "HP:0000486", + "UPHENO:0049622", "NBO:0000444", + "HP:0000496", "UBERON:0010222", - "UPHENO:0079828", "UPHENO:0080585", - "GO:0050896", + "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:0080351", "UPHENO:0075159", - "UPHENO:0041226", - "HP:0000085", - "UPHENO:0082444", "GO:0007600", "UPHENO:0041075", + "HP:0000085", + "UPHENO:0041465", + "UPHENO:0082444", + "UPHENO:0041226", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0041465", "HP:0000081", "UPHENO:0075787", + "HP:0002664", + "HP:0011793", "HP:0001909", "HP:0004377", - "HP:0011793", - "HP:0002664", - "UBERON:0000477", - "GO:0008015", + "HP:0002597", "HP:0001892", "HP:0011029", - "HP:0002597", "UPHENO:0002678", - "GO:0003013", + "UBERON:0000477", "HP:0000978", "UPHENO:0051097", "HP:0001933", "UBERON:0007798", - "UPHENO:0084447", + "GO:0003013", + "GO:0008015", + "HP:0009943", + "HP:0011314", "HP:0009602", + "UPHENO:0087369", + "HP:0009942", "UBERON:0003221", "UBERON:0012357", - "HP:0011314", - "HP:0009943", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0087369", - "HP:0009942", "UPHENO:0021800", + "UPHENO:0084447", "GO:0022403", "UBERON:0004249", "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "GO:0010556", - "GO:0031326", - "GO:0009890", - "HP:0011276", - "UBERON:0005897", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "GO:0005623", + "UPHENO:0049873", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0010629", "GO:0065007", "UPHENO:0080581", "UPHENO:0050021", - "GO:0010629", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", "UPHENO:0000541", "UBERON:0001436", "GO:0010468", @@ -229,150 +212,173 @@ def autocomplete(): "GO:0010558", "GO:0031327", "GO:0006325", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", + "UPHENO:0049700", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "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", - "UPHENO:0049873", - "GO:0008152", - "HP:0000365", - "GO:0009987", + "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", + "UPHENO:0082794", "GO:0040007", "UPHENO:0049874", + "UPHENO:0010763", "UBERON:0010543", "HP:0001507", - "UPHENO:0082794", - "UPHENO:0010763", "UPHENO:0054299", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0020041", - "HP:0000271", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", "UPHENO:0069523", - "UBERON:0000020", - "UPHENO:0087472", + "UPHENO:0080209", "GO:0033554", "UBERON:0000970", "UBERON:0001456", - "UBERON:0004088", - "HP:0000568", - "UBERON:0004456", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", "UPHENO:0087924", "HP:0100887", "HP:0000478", "UPHENO:0002910", + "UPHENO:0020041", + "HP:0000271", "HP:0011025", "HP:0000315", - "UPHENO:0080209", - "HP:0001896", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", "HP:0004312", + "HP:0001896", "UPHENO:0086002", "UPHENO:0049588", "CL:0000558", "UPHENO:0046505", + "UPHENO:0088186", "HP:0009381", - "UPHENO:0012541", "UPHENO:0002433", "CL:0000233", - "GO:0008150", - "UPHENO:0020888", + "UPHENO:0026506", "UBERON:0015061", "UBERON:0003129", - "UPHENO:0026506", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "NCBITaxon:2759", - "UPHENO:0084448", + "UBERON:0010708", "UBERON:0012139", - "UPHENO:0082761", - "CL:0000738", - "HP:0000027", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UBERON:0010363", - "HP:0002977", - "HP:0009777", - "UBERON:0010708", - "UBERON:0002204", - "UPHENO:0086700", - "UPHENO:0086019", "UBERON:0019221", "GO:0044848", "UBERON:0001460", "UBERON:0002513", "UBERON:0011138", "GO:0022414", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "HP:0045060", - "UPHENO:0086633", + "NCBITaxon:2759", "UBERON:0006717", "UPHENO:0001003", "UPHENO:0076810", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "CL:0000775", - "UPHENO:0088186", + "CL:0000225", "UBERON:0011582", "GO:0006996", "HP:0008678", "UPHENO:0085263", "UPHENO:0052178", - "CL:0000225", - "UBERON:0001440", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "GO:0003008", - "UBERON:0010538", - "HP:0001167", - "HP:0040064", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", + "UBERON:0002204", "UPHENO:0080300", "UPHENO:0009382", "UBERON:0004708", "UPHENO:0085068", "UPHENO:0021474", "UBERON:5001463", - "UBERON:0012140", - "UBERON:0005451", + "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", - "UPHENO:0049952", - "HP:0040068", - "UPHENO:0002708", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0000153", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", "UBERON:0012141", + "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", @@ -382,19 +388,18 @@ def autocomplete(): "GO:0034641", "HP:0000929", "HP:0010461", - "UBERON:0000153", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "HP:0012638", + "UPHENO:0053644", + "UBERON:8450002", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "UBERON:0003103", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0088321", "UPHENO:0049367", "UPHENO:0075997", "UBERON:0002371", @@ -403,63 +408,70 @@ def autocomplete(): "HP:0012373", "HP:0100542", "UBERON:0000916", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UPHENO:0085984", - "UBERON:0005173", - "UBERON:0005177", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", + "UPHENO:0002803", + "UBERON:0005172", + "CL:0001035", + "BFO:0000040", "UPHENO:0084766", "UBERON:0015212", - "BFO:0000040", - "BFO:0000004", - "UBERON:8450002", - "UPHENO:0053644", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", + "UPHENO:0059829", + "HP:0011991", "UBERON:0011250", "UPHENO:0086176", "UBERON:0010758", "UPHENO:0087846", - "UBERON:5006048", - "UBERON:0003133", - "UBERON:0003103", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UPHENO:0085984", "HP:0020047", "GO:0007276", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "GO:0032501", - "UBERON:0013701", + "HP:0001874", + "UPHENO:0076692", + "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", - "HP:0001874", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0063722", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0088335", - "HP:0000924", - "UBERON:0004121", + "UPHENO:0001002", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "UBERON:0008785", + "CL:0000255", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", "GO:0043170", "HP:0011961", "UPHENO:0077426", @@ -468,12 +480,6 @@ def autocomplete(): "UPHENO:0076724", "UPHENO:0081451", "UBERON:0002101", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", "HP:0000152", "GO:0048523", "HP:0000079", @@ -481,277 +487,267 @@ def autocomplete(): "UPHENO:0085330", "UPHENO:0076703", "HP:0003974", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UPHENO:0001002", - "UBERON:0000062", + "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:0005881", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:5002544", - "UPHENO:0087510", - "GO:0006281", - "BFO:0000002", - "HP:0012639", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0000467", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", + "UBERON:0008962", + "HP:0012210", + "UBERON:0001463", "HP:0001877", "UBERON:0002389", "UPHENO:0087349", "UBERON:0000468", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UBERON:0004120", - "HP:0005922", - "UBERON:0005178", - "UPHENO:0049701", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0012638", "UPHENO:0079876", "UPHENO:0053580", "UBERON:0011143", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "HP:0011991", - "UPHENO:0059829", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0087802", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0086016", + "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", - "UPHENO:0085371", - "HP:0025354", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0000144", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0087427", "CL:0002242", "UPHENO:0085405", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UPHENO:0087427", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0002529", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UBERON:0003607", - "HP:0011844", - "HP:0007364", - "UPHENO:0080079", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UPHENO:0049748", - "HP:0000707", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0087802", + "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", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", "UPHENO:0076805", "UPHENO:0085189", - "UBERON:0012475", - "UPHENO:0002880", - "HP:0000144", - "HP:0001518", - "HP:0100547", - "HP:0032309", - "UPHENO:0078606", - "HP:0006265", - "UPHENO:0087123", - "UPHENO:0035025", - "UBERON:0000479", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", "HP:0000086", "CL:0000766", - "UBERON:0002091", - "UPHENO:0020584", + "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", - "UPHENO:0046624", - "UBERON:0004381", - "UPHENO:0011498", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0050108", - "HP:0100543", - "CL:0000408", - "GO:0007283", - "UPHENO:0075220", - "UPHENO:0087907", - "HP:0006501", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", + "UBERON:0001440", + "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", - "UPHENO:0086589", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", "UPHENO:0080377", "UBERON:0011137", "UBERON:0000489", "UBERON:0010323", - "UBERON:0002090", - "GO:0048232", - "UBERON:0001017", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0054970", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", "HP:0002011", "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0080362", - "BFO:0000001", - "UPHENO:0002635", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", "HP:0001626", - "UBERON:0001009", "UBERON:0000948", - "UPHENO:0005016", - "UBERON:0007100", - "NCBITaxon:6072", - "UPHENO:0076776", + "BFO:0000001", + "UPHENO:0002635", "UBERON:0000915", "UBERON:0005181", + "UPHENO:0080362", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0001009", "HP:0030680", - "UPHENO:0080221", + "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", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", "UBERON:0002102", "UPHENO:0003811", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "HP:0011121", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", "HP:0000002", "UPHENO:0076740", "HP:0000953", "HP:0000789", "UBERON:0004710", "UPHENO:0088162", - "UPHENO:0074589", "GO:0050794", "UPHENO:0085875", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001574", - "HP:0003251", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", + "HP:0011121", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0003055", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "HP:0000078", "HP:0011028", "UBERON:0010712", "HP:0000080", - "UPHENO:0003055", - "UBERON:0005156", - "UPHENO:0080126", - "UBERON:0015204", + "UPHENO:0066972", + "UBERON:0000990", "UPHENO:0003020", "UBERON:0005944", "UBERON:0000991", - "HP:0001903", - "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0066972", - "HP:0000818", - "UBERON:0000990", "HP:0008373", - "HP:0000118", - "HP:0001876", - "UPHENO:0024906", - "HP:0000078", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0000818", + "UBERON:0005156", "CL:0000232", "UBERON:0004375", "HP:0011873", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", "UPHENO:0087089", "CL:0000764", "UBERON:0001474", "CL:0000329", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", "UPHENO:0082875", "HP:0011355", "HP:0000104", @@ -763,6 +759,8 @@ def autocomplete(): "UPHENO:0025211", "HP:0025461", "UPHENO:0009399", + "UBERON:0013702", + "UPHENO:0080187", "UBERON:0015021", "UBERON:0002386", "UPHENO:0086635", @@ -770,41 +768,43 @@ def autocomplete(): "HP:0000812", "UBERON:0000955", "UBERON:0010703", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0085356", + "GO:0019953", "UBERON:0010912", "CL:0000094", "HP:0040072", - "UPHENO:0086956", - "UPHENO:0085356", - "GO:0019953", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UBERON:0004176", "UPHENO:0079872", "UPHENO:0009341", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0013702", - "UPHENO:0080187", + "UBERON:0001423", + "UPHENO:0086956", + "HP:0040070", "UBERON:0002405", "UPHENO:0021561", "UBERON:0003606", - "UBERON:0002104", - "HP:0006503", "UPHENO:0041821", "HP:0009825", "UPHENO:0002332", "HP:0012874", + "UBERON:0002104", + "HP:0006503", "HP:0009142", "UBERON:0004535", "UPHENO:0002751", "UBERON:0002495", - "UBERON:0001423", + "GO:0071840", + "HP:0002813", + "HP:0002818", "HP:0001249", "UBERON:0001968", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", "UBERON:0010741", "UPHENO:0081755", "UBERON:0002471", @@ -812,198 +812,195 @@ def autocomplete(): "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "HP:0040070", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000457", "UPHENO:0086045", "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0011584", - "UPHENO:0084987", "UPHENO:0085042", "HP:0012145", - "UPHENO:0084761", - "HP:0001872", + "UPHENO:0087355", + "CL:0000457", + "UPHENO:0087339", "CL:0000458", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", "UPHENO:0026028", "UPHENO:0084928", "UPHENO:0085302", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0086201", - "HP:0001000", - "UPHENO:0080382", - "HP:0003953", - "GO:0048609", - "GO:0003006", + "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", - "UPHENO:0052231", - "HP:0000028", "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", - "HP:0000811", - "HP:0005918", - "HP:0012243", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", "HP:0001172", - "UBERON:0011676", "HP:0002973", + "UBERON:0011676", "HP:0000025", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0004288", "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", - "HP:0008669", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", "UPHENO:0086198", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", "HP:0012041", "UPHENO:0079826", "UBERON:0004122", "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", "UBERON:0015063", "UPHENO:0078729", "UBERON:0000463", "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0008668", - "UPHENO:0068971", - "UPHENO:0046411", + "HP:0005918", + "HP:0012243", + "UPHENO:0012541", "HP:0004325", "UPHENO:0031839", + "UPHENO:0046411", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "UPHENO:0008668", + "UPHENO:0068971", ], "has_phenotype_closure_label": [ "Decreased fertility in males", "Decreased fertility", - "DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", "abnormal response to stress", + "DNA repair", + "response to stress", "abnormal cellular response to stress", "abnormal DNA repair", - "response to stress", - "cell cycle phase", + "Deficient excision of UV-induced pyrimidine dimers in DNA", "Abnormality of the cell cycle", "G2 phase", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormal ear", + "cell cycle phase", "abnormal sensory perception", "Hearing abnormality", + "decreased sensory perception of sound", "ear", + "abnormal ear", "sensory perception of sound", - "body part movement", + "decreased qualitatively sensory perception of mechanical stimulus", "anatomical line", + "body part movement", "immaterial anatomical entity", - "Strabismus", - "abnormal response to stimulus", + "behavior", "response to stimulus", - "behavior process", - "abnormal eye movement", "eye movement", - "behavior", - "delayed biological_process", - "Short stature", + "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", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Horseshoe kidney", + "shape anatomical entity", "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "shape anatomical entity", - "Horseshoe kidney", "3-D shape anatomical entity", "U-shaped anatomical entity", "Neoplasm", "Hematological neoplasm", - "Generalized abnormality of skin", - "Internal hemorrhage", + "vasculature", "Abnormality of the vasculature", "blood circulation", - "Vascular skin abnormality", - "Abnormality of blood circulation", - "vasculature", - "abnormality of cardiovascular system physiology", - "Abnormal bleeding", "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", + "manual digit bone", "Duplication of bones involving the upper extremities", - "phalanx", "phalanx endochondral element", "manual digit phalanx endochondral element", - "abnormal phalanx morphology", - "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", + "abnormal phalanx morphology", "acropodial skeleton", - "manual digit bone", + "abnormal phalanx of manus morphology", + "Abnormality of thumb phalanx", + "phalanx", "digit 1 digitopodial skeleton", "manual digit digitopodial skeleton", "digitopodium bone", "skeleton of manual acropodium", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "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", - "Abnormality of DNA repair", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", + "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", @@ -1015,126 +1012,104 @@ def autocomplete(): "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "cellular component organization or biogenesis", + "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", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "abnormal growth", + "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", - "decreased anatomical entity mass", - "abnormal size of eyeball of camera-type eye", + "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", - "Abnormality of the face", - "simple eye", - "sensory system", + "abnormal camera-type eye morphology", "Abnormality of the eye", "abnormal face", - "sense organ", - "eyeball of camera-type eye", - "camera-type eye", - "Microphthalmia", "orbital region", - "Abnormality of the orbital region", "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", + "abnormal size of eyeball of camera-type eye", "visual system", - "abnormally decreased number of reticulocyte", - "reticulocyte", - "multicellular organismal reproductive process", - "Non-obstructive azoospermia", - "axial skeleton plus cranial skeleton", + "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", - "system process", - "Male infertility", - "abnormal limb morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "appendicular skeletal system", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "entity", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", + "axial skeleton plus cranial skeleton", "Abnormal appendicular skeleton morphology", "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "system", - "aplasia or hypoplasia of manual digit 1", - "bone of appendage girdle complex", - "Abnormal finger phalanx morphology", - "pigmentation", + "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 limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "occurrent", + "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", + "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "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", - "paired limb/fin skeleton", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "digit plus metapodial segment", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "forelimb", - "Abnormal forebrain morphology", - "abnormal digit morphology", - "abnormal manus", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal skeletal system", - "digit 1 plus metapodial segment", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", @@ -1144,82 +1119,87 @@ def autocomplete(): "skeleton", "male gamete generation", "absent anatomical entity", - "regulation of metabolic process", - "Decreased body weight", - "autopodial extension", - "manual digit 1", - "abnormal immune system morphology", - "skeletal system", - "motile cell", - "Abnormality of limbs", - "Abnormality of limb bone morphology", "Abnormal digit morphology", - "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 cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "abnormally decreased number of myeloid cell", - "aplastic anatomical entity", - "face", - "aplasia or hypoplasia of manual digit", + "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", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "acropodium region", - "Intellectual disability", - "bone marrow", + "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", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "abnormal enucleated reticulocyte morphology", - "nucleate cell", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "sexual reproduction", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "Macule", - "renal system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "quality", "abnormal manus morphology", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", + "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", - "Aplasia/Hypoplasia of fingers", "digitopodium region", + "Aplasia/Hypoplasia of fingers", "abnormal myeloid cell morphology", "increased biological_process", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "hemolymphoid system", - "Aplasia/hypoplasia involving the skeleton", + "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", @@ -1231,18 +1211,68 @@ def autocomplete(): "Abnormal cerebral morphology", "abnormal blood circulation", "arm bone", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "abnormal immune system", + "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", + "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 leukocyte morphology", - "anatomical line between pupils", - "independent continuant", + "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", @@ -1250,29 +1280,27 @@ def autocomplete(): "Hypermelanotic macule", "abnormal bone marrow morphology", "reproduction", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Abnormal cellular immune system morphology", - "Abnormal nervous system physiology", - "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "multicellular organism", "Thrombocytopenia", - "skeletal element", - "zeugopod", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "renal collecting system", - "Ectopic kidney", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", + "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", @@ -1280,9 +1308,9 @@ def autocomplete(): "Abnormality of neutrophils", "leukocyte", "abnormal gamete generation", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "continuant", + "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", @@ -1290,70 +1318,15 @@ def autocomplete(): "negative regulation of biosynthetic process", "material entity", "long bone", - "regional part of nervous system", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "abdominal segment element", - "abnormal reproductive system morphology", - "abnormal hematopoietic system", - "Renal agenesis", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "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", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "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", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "aplastic manual digit 1", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic cell morphology", - "viscus", - "Abnormal granulocyte morphology", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Complete duplication of phalanx of hand", - "limb bone", - "granulocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal nervous system", "paired limb/fin segment", "abnormality of camera-type eye physiology", "immune system", - "abnormally decreased number of leukocyte in the independent continuant", "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "Absent forearm bone", "Leukemia", "abnormal cell morphology", @@ -1369,6 +1342,34 @@ def autocomplete(): "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", @@ -1376,6 +1377,9 @@ def autocomplete(): "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", @@ -1385,95 +1389,84 @@ def autocomplete(): "compound organ", "zeugopodial skeleton", "limb long bone", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", "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", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "manual digit 1 plus metapodial segment", - "abdomen", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "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 nervous system", + "abnormal hematopoietic cell morphology", "biological phase", "autopod bone", "mesoderm-derived structure", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", + "abnormal manus", + "craniocervical region", + "abnormal forebrain morphology", "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", "abnormal craniocervical region morphology", "immaterial entity", "Abnormality of chromosome stability", "anatomical entity dysfunction in independent continuant", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "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", - "craniocervical region", + "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", - "decreased size of the multicellular organism", - "Abnormality of skull size", + "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", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "kinesthetic behavior", - "Eumetazoa", - "Infertility", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal forebrain morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal skull morphology", - "reproductive organ", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Decreased head circumference", + "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", @@ -1481,42 +1474,51 @@ def autocomplete(): "Abnormal axial skeleton morphology", "non-material anatomical boundary", "erythroid lineage cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", + "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", - "heart plus pericardium", - "Cryptorchidism", + "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", - "abnormal integument", - "Cafe-au-lait spot", - "abnormally decreased number of anatomical entity in the independent continuant", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Neutropenia", - "reproductive structure", "changed biological_process rate", "increased biological_process in skin of body", "absent germ cell", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal skin of body", "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", - "integumental system", - "integument", - "absent radius bone in the forelimb", "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", @@ -1525,28 +1527,27 @@ def autocomplete(): "germ line cell", "abnormal pigmentation in independent continuant", "Abnormal forearm bone morphology", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "Abnormality of the head", - "heart", - "abnormal pigmentation", + "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", - "Abnormality of the genital system", + "abnormal endocrine system", + "abnormally decreased number of reticulocyte", + "Abnormality of the endocrine system", "Abnormality of reproductive system physiology", "gamete", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "glandular system", "male gamete", "abnormally decreased functionality of the gonad", - "oxygen accumulating cell", + "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", @@ -1554,134 +1555,133 @@ def autocomplete(): "abnormal shape of continuant", "trunk", "abnormal bone marrow cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", "absent kidney", "subdivision of skeletal system", "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "forelimb zeugopod skeleton", - "forelimb zeugopod", - "abnormal testis morphology", "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", - "abnormal radius bone morphology", - "Absent radius", - "aplastic forelimb zeugopod bone", - "abnormal size of skull", - "forelimb long bone", "sensory perception of mechanical stimulus", "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", + "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", "anucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", "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", - "digit 1", - "abnormal platelet morphology", + "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", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", "germ cell", - "abnormal internal genitalia", - "abnormal cell", - "disconnected anatomical group", - "male reproductive organ", - "internal genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "haploid cell", + "absent gamete", + "sperm", "abnormal gamete", "Reticulocytopenia", - "interphase", - "semen", "organism substance", - "Abnormal external genitalia", + "haploid cell", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "internal genitalia", + "abnormal internal genitalia", "platelet", "absent sperm in the independent continuant", - "male germ cell", - "abnormal granulocyte morphology", - "Azoospermia", "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", - "testis", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive 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", - "sperm", - "absent gamete", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "Abnormal testis morphology", + "abnormal granulocyte morphology", + "Azoospermia", "absent anatomical entity in the independent continuant", "abnormally localised testis", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", + "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", + "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", - "Short finger", "skeleton of digitopodium", "Short digit", - "anterior region of body", - "decreased length of manual digit 1", + "reticulocyte", ], "has_phenotype_count": 34, "highlight": None, @@ -1716,10 +1716,10 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0007018", "HP:0040012", - "HP:0008551", + "HP:0007018", "HP:0000470", + "HP:0008551", "HP:0009777", "HP:0004590", "HP:0002575", @@ -1754,10 +1754,10 @@ def autocomplete(): "HP:0000089", ], "has_phenotype_label": [ - "Attention deficit hyperactivity disorder", "Chromosome breakage", - "Microtia", + "Attention deficit hyperactivity disorder", "Short neck", + "Microtia", "Absent thumb", "Hypoplastic sacrum", "Tracheoesophageal fistula", @@ -1793,187 +1793,201 @@ def autocomplete(): ], "has_phenotype_closure": [ "UPHENO:0081210", - "UPHENO:0085195", - "UPHENO:0087123", - "HP:0012145", - "HP:0005528", "UBERON:0000479", + "HP:0005528", + "HP:0002715", "HP:0005561", + "UPHENO:0085195", "UPHENO:0087355", - "HP:0002715", - "UBERON:0008340", - "UPHENO:0006161", - "UPHENO:0087278", + "UPHENO:0087123", + "HP:0012145", "UPHENO:0006147", + "UPHENO:0087278", "UPHENO:0081800", + "UBERON:0008340", "HP:0000431", + "UPHENO:0006161", "HP:0000568", - "HP:0008056", "HP:0100887", + "HP:0008056", + "UPHENO:0000552", + "UPHENO:0050372", "GO:0048709", + "GO:0048869", + "HP:0012448", "GO:0007399", "GO:0032291", "GO:0022008", "GO:0010001", - "HP:0012448", - "GO:0048869", - "UPHENO:0000552", - "UPHENO:0050372", - "UPHENO:0076779", - "UPHENO:0087427", - "GO:0030154", - "UBERON:0002113", - "UBERON:0011143", "UBERON:0000916", "UPHENO:0083952", "UBERON:8450002", - "HP:0000122", "UPHENO:0026980", "UPHENO:0008593", - "GO:0014003", - "HP:0001877", - "HP:0012130", - "UBERON:0002390", - "UPHENO:0004459", - "HP:0001903", + "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", - "UPHENO:0082467", - "UPHENO:0041458", - "UPHENO:0041203", - "UBERON:0000004", - "UBERON:0002268", - "UPHENO:0087430", + "HP:0012130", + "HP:0001903", + "UPHENO:0004459", "HP:0000366", "UPHENO:0082454", - "UPHENO:0081585", - "UPHENO:0082356", + "UPHENO:0041203", "UPHENO:0041080", "UPHENO:0075219", "HP:0005105", + "UPHENO:0087430", + "UPHENO:0041458", + "UBERON:0002268", + "UPHENO:0081585", + "UPHENO:0082356", + "UBERON:0000004", + "UPHENO:0082467", "HP:0000436", - "UPHENO:0080209", - "UPHENO:0068843", - "UBERON:0004053", - "UBERON:0008811", "HP:0010935", "UPHENO:0002907", "HP:0003241", - "HP:0000032", + "UBERON:0003101", + "UBERON:0004053", + "UBERON:0008811", "HP:0008736", + "UBERON:0000989", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", "UBERON:0001008", "UPHENO:0081320", "UPHENO:0002948", "UPHENO:0087643", - "UBERON:0000989", - "UBERON:0003101", - "UPHENO:0050406", - "HP:0000811", - "HP:0010461", "HP:0000054", + "HP:0000032", + "UPHENO:0087802", "HP:0001871", "UBERON:0000079", - "UPHENO:0087802", - "UPHENO:0075655", + "UPHENO:0080209", + "UPHENO:0068843", + "HP:0000175", + "HP:0000202", "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0002553", "UBERON:0001716", - "HP:0000202", + "UBERON:0000464", "UBERON:0001709", - "UBERON:0002553", - "UPHENO:0076786", + "UPHENO:0075655", "UPHENO:0033635", - "UBERON:0000464", - "HP:0000175", - "UPHENO:0020013", + "HP:0011283", "NCBITaxon:6072", - "NCBITaxon:2759", - "UPHENO:0081601", + "UPHENO:0076720", + "UPHENO:0080089", + "NCBITaxon:131567", + "UPHENO:0020013", + "UBERON:0004732", "UBERON:0002028", "UBERON:0002037", "UBERON:0001895", "NCBITaxon:33154", - "NCBITaxon:131567", - "UPHENO:0080089", - "HP:0002977", + "UPHENO:0081601", "GO:0007417", "UBERON:0004176", "UBERON:0004733", - "UBERON:0004732", - "UPHENO:0076720", "NCBITaxon:1", - "HP:0011283", + "HP:0002977", "UBERON:0000063", "UBERON:0000073", + "NCBITaxon:2759", "HP:0011968", "UPHENO:0063603", "HP:0002589", "HP:0003221", "HP:0001263", - "UPHENO:0002642", + "UBERON:0005156", "HP:0000151", - "UPHENO:0020950", - "UBERON:0000990", + "UBERON:0003100", + "UPHENO:0003053", + "UPHENO:0002642", "UPHENO:0025875", "UBERON:0003134", "UBERON:0000995", - "UPHENO:0087547", - "HP:0000130", - "UPHENO:0003053", - "UBERON:0003100", + "UBERON:0000990", + "UPHENO:0003055", "HP:0010460", + "UPHENO:0020950", "UPHENO:0005170", - "UBERON:0005156", - "UPHENO:0003055", + "HP:0000130", + "UPHENO:0087547", "UPHENO:0009305", + "UPHENO:0005642", "UPHENO:0002832", "UPHENO:0041098", "UBERON:0013515", "GO:0032502", - "UPHENO:0052778", "CL:0001035", "UPHENO:0050034", + "UPHENO:0052778", "UBERON:0012128", "GO:0009790", - "UPHENO:0005433", - "UPHENO:0080393", - "UPHENO:0005642", "UPHENO:0068984", "UPHENO:0050108", - "HP:0040070", - "UPHENO:0076718", - "HP:0006501", + "UPHENO:0005433", + "UPHENO:0080393", "UBERON:0003466", "UBERON:0002471", "UBERON:0010741", + "HP:0000119", + "UPHENO:0081511", + "HP:0003974", "HP:0003953", - "UPHENO:0026023", - "UBERON:0003607", - "UBERON:0001423", + "UPHENO:0076718", "HP:0009825", "UBERON:0002405", "UBERON:0003606", - "HP:0003974", - "UPHENO:0062515", - "UPHENO:0087585", - "UPHENO:0079872", - "UPHENO:0009341", - "HP:0000119", - "UPHENO:0081511", + "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:0002386", + "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", - "UBERON:0003457", - "UBERON:0003135", - "HP:0009116", "GO:0042063", "HP:0000036", "UBERON:0011156", @@ -1983,161 +1997,175 @@ def autocomplete(): "UBERON:0003278", "UBERON:0003462", "UBERON:0001684", - "UPHENO:0061854", - "UPHENO:0084457", - "HP:0009118", - "HP:0011821", - "HP:0031816", - "UPHENO:0088116", - "UBERON:0000165", - "UBERON:0002514", - "UBERON:0007842", - "HP:0002692", - "UBERON:0004756", - "UBERON:0010313", - "UBERON:0003129", - "UBERON:0004742", - "UPHENO:0083646", - "UPHENO:0081314", - "UBERON:0000489", - "UBERON:0010323", - "HP:0030791", - "UBERON:0007375", - "UBERON:0012360", - "HP:0000163", - "UBERON:0002103", - "HP:0000309", - "UBERON:0004375", + "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", - "UPHENO:0080126", - "UBERON:0004765", + "UBERON:0013765", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0003074", + "UBERON:0005451", + "UBERON:0007272", "UBERON:0000467", - "UPHENO:0060026", - "UPHENO:0088162", - "UBERON:0004710", - "HP:0002031", + "UBERON:0004765", + "UBERON:0002101", "HP:0001167", - "UBERON:0004120", - "UPHENO:0008523", - "UPHENO:0006910", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0003074", - "UBERON:0005451", - "UBERON:0000026", - "UBERON:0007272", - "HP:0009601", - "HP:0009121", - "UBERON:0000015", - "HP:0000812", - "UPHENO:0086635", - "UBERON:0007196", + "HP:0000377", + "UPHENO:0076803", + "UBERON:0015212", + "UPHENO:0087478", + "HP:0000078", + "UBERON:0003690", + "UPHENO:0018426", + "HP:0040064", + "UPHENO:0080111", + "UBERON:0002097", + "HP:0000598", + "UPHENO:0041226", + "UPHENO:0082129", + "UBERON:0000020", + "HP:0011842", + "UPHENO:0069196", + "UPHENO:0076760", + "UPHENO:0086595", + "UBERON:0001691", + "UPHENO:0084763", + "UPHENO:0018414", + "UPHENO:0080114", + "HP:0000234", + "UBERON:0000062", + "HP:0040072", + "UBERON:0010912", + "UBERON:0008001", + "HP:0011282", + "UBERON:0002204", + "UBERON:0003458", + "CL:0000988", + "UBERON:0002413", + "UBERON:0003103", + "UPHENO:0020584", + "UBERON:0005434", + "UBERON:0002529", + "UBERON:0006077", + "UPHENO:0002443", + "HP:0025033", + "UBERON:0015007", + "HP:0000316", "UBERON:0010363", + "UPHENO:0002813", + "GO:0044237", "CL:0000329", "UBERON:0001474", "HP:0001321", "GO:0006259", "UPHENO:0087806", "HP:0000708", - "GO:0044237", - "UPHENO:0002813", - "HP:0011282", - "UBERON:0002204", - "UBERON:0008001", - "UBERON:0001440", - "HP:0025668", - "UPHENO:0076739", "UPHENO:0087950", "HP:0000001", "UBERON:0006072", "HP:0008684", "UPHENO:0081788", - "UBERON:0002101", "UBERON:0002412", "UPHENO:0002828", - "UBERON:0003458", "UBERON:0002090", "UPHENO:0084761", "UBERON:0034925", "UBERON:0011138", - "UBERON:0002513", "UPHENO:0084012", "GO:0048468", "GO:0031323", - "UBERON:0006077", - "UPHENO:0002443", - "HP:0025033", - "CL:0000988", - "UBERON:0002413", - "UBERON:0003103", - "UBERON:0005434", - "UBERON:0002529", - "UBERON:0011582", + "UBERON:0002513", + "UBERON:0015203", + "UPHENO:0080325", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000812", + "UPHENO:0086635", + "UBERON:0007196", + "HP:0025668", + "UPHENO:0076739", + "GO:0042552", + "UPHENO:0049700", + "HP:0005927", + "BFO:0000002", + "HP:0000736", + "HP:0012639", + "UBERON:0006800", + "UPHENO:0069249", + "UPHENO:0076692", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0002844", + "UBERON:0010364", + "UBERON:0019231", + "UBERON:0007914", + "UPHENO:0087924", "GO:0050896", - "HP:0040072", - "UBERON:0010912", - "UBERON:0015007", - "HP:0000316", - "HP:0011842", + "UBERON:0011582", + "UPHENO:0081095", + "UBERON:0010314", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0084928", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0080079", + "HP:0011844", + "UBERON:0004709", + "UBERON:0011584", + "UBERON:0004923", + "UPHENO:0080382", + "HP:0001000", + "GO:0010556", + "PR:000050567", + "UBERON:0001711", + "GO:0009890", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0002903", + "UPHENO:0081783", + "UBERON:0002100", + "HP:5200044", + "GO:0031049", + "UBERON:0002075", + "GO:0090304", + "UBERON:0000060", + "UPHENO:0002332", "CL:0000764", "UPHENO:0087089", "UPHENO:0003085", - "GO:0022010", - "UPHENO:0087563", - "UPHENO:0005016", - "HP:0001883", - "HP:0000470", - "UPHENO:0086589", - "UPHENO:0076791", - "HP:0200006", - "UBERON:0000033", - "UBERON:0015001", - "HP:0001155", - "HP:0002086", - "UPHENO:0046571", - "HP:0000377", - "UPHENO:0076803", - "UBERON:0015203", - "UPHENO:0080325", - "UPHENO:0075195", - "UBERON:0000020", - "HP:0002795", - "UBERON:0001434", - "HP:0007360", - "UPHENO:0075878", - "GO:0048856", - "UPHENO:0072194", - "UPHENO:0080187", - "UBERON:0013702", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0084763", - "UPHENO:0018414", - "UBERON:0034923", - "HP:0040064", - "UPHENO:0080111", - "UBERON:0002097", - "HP:0000598", - "UPHENO:0041226", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UPHENO:0087478", - "UPHENO:0080165", - "UPHENO:0081091", - "UPHENO:0069196", - "HP:0000951", - "RO:0002577", - "UBERON:0010703", - "UBERON:0000955", - "UPHENO:0020584", - "UPHENO:0080114", - "HP:0000234", + "HP:0000437", + "GO:0006139", + "HP:0002664", + "UPHENO:0076723", + "UPHENO:0055730", + "UBERON:0034929", + "UPHENO:0087907", + "GO:0009987", "HP:0025032", "UPHENO:0026984", "HP:0031703", @@ -2148,116 +2176,138 @@ def autocomplete(): "HP:0011297", "UBERON:0011159", "GO:0071704", + "UPHENO:0050113", + "UPHENO:0025708", + "HP:0000929", + "GO:0034641", + "UPHENO:0031839", + "UPHENO:0001003", + "UBERON:0006717", + "BFO:0000003", + "UPHENO:0080171", "CL:0000000", - "UPHENO:0002803", "UBERON:0005172", + "UPHENO:0002803", "UPHENO:0002934", "UPHENO:0004536", - "PR:000050567", - "GO:0010556", - "UBERON:0001711", - "BFO:0000003", - "UPHENO:0080171", - "UPHENO:0076703", - "HP:0000582", - "HP:0002664", - "HP:0000437", - "GO:0006139", - "UPHENO:0031839", + "UBERON:0003113", + "HP:0002778", + "GO:0031324", + "UPHENO:0087510", + "UBERON:5002544", + "UBERON:0001130", + "UBERON:0000465", + "HP:0003220", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", "UPHENO:0084007", "GO:0031052", + "PATO:0000001", + "UPHENO:0080110", "HP:0000357", "UPHENO:0018424", - "UBERON:0003975", - "UPHENO:0080099", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "UPHENO:0005986", "UBERON:0004456", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0075902", + "UPHENO:0015280", + "GO:0016043", + "HP:0012758", + "HP:0002011", + "UPHENO:0074575", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", "GO:0050789", - "HP:0011844", - "UPHENO:0080079", - "UBERON:0004709", - "UBERON:0005174", - "HP:5200045", - "UPHENO:0002433", - "UBERON:0002355", - "UBERON:0003947", - "UBERON:0000465", - "UBERON:0001130", - "UBERON:0010000", - "UPHENO:0012541", - "UPHENO:0080585", - "GO:0010605", - "UBERON:0002387", + "GO:0005623", + "HP:0011446", + "UBERON:0004119", + "UPHENO:0082682", + "UBERON:0001016", + "HP:0000582", + "UPHENO:0076703", + "GO:0046483", + "UPHENO:0084766", "BFO:0000004", "UBERON:0008785", - "UPHENO:0050121", + "GO:0008152", + "UPHENO:0087501", + "UPHENO:0076800", + "GO:0006725", + "GO:0071824", + "UBERON:0010313", + "GO:0065007", + "GO:0048731", + "GO:0031327", + "UPHENO:0075195", + "HP:0000152", + "HP:0000356", + "UPHENO:0069110", + "UPHENO:0014240", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0081566", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0059829", + "UBERON:0001690", + "UPHENO:0009396", + "UPHENO:0076752", + "UBERON:0002105", + "UPHENO:0050116", + "UPHENO:0050021", + "UBERON:0012477", + "UPHENO:0001005", + "GO:0010558", + "NBO:0000313", "UBERON:0006983", "GO:0008150", "UBERON:0002371", "UPHENO:0075997", - "UPHENO:0081095", - "UBERON:0010314", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0002844", - "UBERON:0010364", - "UBERON:0019231", - "UBERON:0001137", + "BFO:0000040", + "UBERON:0001442", + "UPHENO:0074584", + "UPHENO:0086589", + "HP:0000470", + "UPHENO:0076791", + "HP:0200006", + "GO:0019222", + "UBERON:0004086", + "UBERON:0000153", + "HP:0008771", + "UPHENO:0049873", + "GO:0010629", + "UBERON:0000033", "UPHENO:0001002", - "UBERON:0007914", - "UPHENO:0087924", - "UPHENO:0050113", - "GO:0009889", - "HP:0000008", - "UPHENO:0002448", + "UBERON:0001137", "GO:0050794", "UBERON:0000474", "HP:0025354", - "GO:0010558", - "NBO:0000313", - "UPHENO:0001005", - "HP:0008771", - "UPHENO:0049873", - "UBERON:0004086", - "UBERON:0000153", - "UPHENO:0069249", - "UPHENO:0076692", - "UPHENO:0081435", - "HP:0001760", - "UPHENO:0041041", - "UPHENO:0049587", - "BFO:0000015", - "HP:0000736", - "BFO:0000002", - "HP:0012639", - "UBERON:0006800", - "UPHENO:0080110", - "PATO:0000001", - "UPHENO:0084928", - "UPHENO:0063565", - "UPHENO:0026028", - "GO:0042552", - "UPHENO:0049700", - "HP:0005927", - "UPHENO:0052178", - "HP:0008551", - "HP:0005922", - "HP:0001317", - "UBERON:0004175", - "HP:0011024", - "UBERON:0011216", - "UBERON:0006333", - "UBERON:0005178", - "GO:0007610", - "UPHENO:0002332", - "UBERON:0002100", - "HP:5200044", - "UPHENO:0004523", + "GO:0009889", + "HP:0000008", + "UPHENO:0002448", + "UPHENO:0050121", + "UPHENO:0081119", + "UPHENO:0076730", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0074572", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "GO:0090304", - "UBERON:0000060", - "GO:0009890", + "UPHENO:0004523", + "UBERON:0013701", + "GO:0032501", + "UPHENO:0026506", + "HP:0012638", "HP:0012210", "UBERON:0008962", "UBERON:0008907", @@ -2265,217 +2315,175 @@ def autocomplete(): "UPHENO:0002595", "UBERON:0004122", "UPHENO:0079826", + "UPHENO:0068971", + "UPHENO:0008668", "HP:0000089", "UBERON:0001444", "UPHENO:0018390", "HP:0000077", "UBERON:0002199", - "UBERON:0003113", - "HP:0002778", - "UPHENO:0025708", - "HP:0000929", - "GO:0034641", - "HP:0002973", - "HP:0001172", - "UBERON:0011676", - "HP:0011446", - "UBERON:0004119", - "UPHENO:0082682", - "UBERON:0001016", - "UBERON:0004111", - "UBERON:0011137", - "UPHENO:0080377", - "GO:0005623", - "UBERON:0012141", - "NCBITaxon:33208", - "HP:0011017", - "GO:0065007", - "UPHENO:0086172", - "UBERON:0012477", - "HP:0012638", - "HP:0000356", - "UPHENO:0069110", - "UPHENO:0014240", - "HP:0001939", - "UPHENO:0050845", - "UPHENO:0087846", - "UBERON:0001555", - "UPHENO:0059829", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", + "UPHENO:0012541", + "UPHENO:0080585", + "GO:0010605", + "UBERON:0002387", + "UPHENO:0002880", + "UBERON:0012475", + "UBERON:0010000", "UPHENO:0049622", - "HP:0003220", - "UPHENO:0001001", - "HP:0002817", - "UPHENO:0075902", - "UPHENO:0015280", - "GO:0016043", - "HP:0012758", - "HP:0002011", - "UPHENO:0074575", - "GO:0008152", - "GO:0019222", + "UPHENO:0041041", + "UPHENO:0049587", + "BFO:0000015", "UPHENO:0063639", "GO:0006325", - "GO:0048731", - "GO:0031327", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0026183", - "UPHENO:0056072", - "UPHENO:0050116", - "HP:0000174", - "UPHENO:0002896", - "GO:0043933", - "HP:0000079", - "UPHENO:0026128", - "GO:0048523", - "GO:0010629", - "UPHENO:0050021", - "GO:0071824", - "GO:0031324", - "UBERON:0011584", - "UBERON:0004923", - "UPHENO:0080382", - "HP:0001000", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001690", - "UPHENO:0009396", - "UPHENO:0076752", - "UBERON:0002105", - "UBERON:0013701", - "GO:0032501", - "UPHENO:0026506", - "UBERON:0011595", - "UBERON:0004288", - "UPHENO:0002830", - "BFO:0000141", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0081783", - "UPHENO:0002903", - "UBERON:0000062", + "UBERON:0002428", + "UPHENO:0054957", + "GO:0008366", + "HP:0000752", + "HP:0009892", + "GO:0009892", + "UPHENO:0076785", + "UBERON:0001456", + "GO:0010468", + "UPHENO:0000541", + "UPHENO:0081790", "UPHENO:0081099", "UPHENO:0049586", - "UPHENO:0081790", - "UPHENO:0082129", - "HP:0001511", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0000152", - "UPHENO:0005986", - "GO:0009987", - "UBERON:0034929", - "UPHENO:0087907", - "UPHENO:0076730", - "UPHENO:0081119", - "HP:0000078", - "UBERON:0003690", - "UPHENO:0018426", + "HP:0001317", + "UBERON:0004175", + "HP:0011024", + "UBERON:0011216", + "UBERON:0006333", + "UBERON:0005178", + "GO:0007610", + "HP:0000174", + "GO:0043933", + "UPHENO:0002896", + "HP:0000951", + "RO:0002577", + "UBERON:0010703", + "UBERON:0000955", + "GO:0022010", + "UPHENO:0087563", + "UPHENO:0005016", + "HP:0001883", "UBERON:0011158", "UBERON:0000974", "UPHENO:0086628", - "UBERON:0002428", - "UPHENO:0054957", - "GO:0008366", - "HP:0000752", - "HP:0009892", - "GO:0009892", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0010468", - "UPHENO:0000541", + "UPHENO:0080187", + "UBERON:0013702", + "UBERON:0034923", + "UPHENO:0002830", + "UBERON:0011595", + "UBERON:0004288", + "HP:5200045", + "UPHENO:0002433", + "UBERON:0002355", + "UBERON:0003947", + "UBERON:0005174", + "UBERON:0015001", + "HP:0001155", + "UBERON:0004111", + "UPHENO:0080377", + "UBERON:0011137", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0052178", + "HP:0008551", + "HP:0005922", + "HP:0002795", + "UBERON:0001434", + "HP:0007360", + "UPHENO:0075878", + "GO:0048856", + "UPHENO:0072194", + "HP:0009121", + "UBERON:0000015", + "UBERON:0002091", "HP:0002032", "UPHENO:0086633", "UPHENO:0087974", "HP:0045060", + "UPHENO:0076724", + "UPHENO:0081451", + "HP:0008772", + "GO:0048519", + "UBERON:0006058", "UBERON:0010538", "UBERON:0011249", - "UBERON:0010712", - "UBERON:0002091", + "UBERON:0003975", + "UPHENO:0080099", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0021791", + "UBERON:5002389", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0001440", "UPHENO:0076727", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "HP:0000163", + "UBERON:0002103", + "UPHENO:0080126", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UBERON:0004120", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", "UBERON:0001460", "GO:0040007", "UBERON:0019221", "UBERON:0004381", "UPHENO:0011498", - "UBERON:0013765", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0010708", - "UPHENO:0026628", - "UBERON:0000019", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0021791", - "UBERON:5002389", - "GO:0048519", - "HP:0008772", - "UBERON:0006058", - "UPHENO:0076723", - "UPHENO:0055730", - "UPHENO:0002905", - "UBERON:0012475", - "UPHENO:0002880", "UPHENO:0085068", "UBERON:0004708", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "UPHENO:0087510", - "UBERON:5002544", - "UBERON:0001062", - "UBERON:0005881", - "UBERON:0010758", - "UBERON:0002193", - "UPHENO:0056237", + "UPHENO:0046571", + "HP:0002086", + "UPHENO:0060026", "UBERON:0007827", "UBERON:0002470", "UBERON:0012139", - "UPHENO:0087349", - "UBERON:0000468", - "UBERON:0002389", - "UPHENO:0085144", - "HP:0000238", - "UPHENO:0087006", - "UPHENO:0076724", - "UPHENO:0081451", - "HP:0005107", "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", - "HP:0008517", - "UBERON:0006314", + "UBERON:0005173", + "UBERON:0003463", "UPHENO:0002536", "HP:0004590", "HP:0030669", + "HP:0005107", "HP:0008678", "GO:0006996", "UBERON:0005179", "UBERON:0003828", - "GO:0060255", - "UBERON:0006075", - "UPHENO:0087501", - "GO:0006725", - "UPHENO:0076800", - "UPHENO:0076695", - "UBERON:0005173", - "UBERON:0003463", - "UBERON:0005177", - "UPHENO:0049990", - "UPHENO:0020659", - "HP:0012243", - "HP:0008518", + "UBERON:0001558", + "HP:0025031", + "UPHENO:0076735", + "UBERON:0000463", "CL:0000081", "UBERON:0000064", "GO:0031326", @@ -2487,82 +2495,55 @@ def autocomplete(): "UPHENO:0021517", "UPHENO:0081784", "UPHENO:0000543", - "UBERON:0001558", - "UPHENO:0076735", - "UBERON:0000463", + "HP:0002575", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", + "UPHENO:0020748", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", "UBERON:0004247", "UBERON:0000117", - "HP:0011793", - "HP:0002575", - "UBERON:0001005", - "UBERON:0000072", - "UPHENO:0084448", - "UBERON:0001245", - "UBERON:0012140", - "UBERON:0005473", - "UBERON:0000065", - "UBERON:0007811", - "HP:0012252", "UPHENO:0081786", "UBERON:0010913", "UBERON:0001043", "HP:0009777", "UBERON:0004921", "UPHENO:0080662", + "UBERON:0007811", + "HP:0012252", "UPHENO:0075696", "UBERON:0004908", - "HP:0005607", - "HP:0025031", - "HP:0000347", - "UBERON:0005409", - "UPHENO:0086700", - "UPHENO:0020748", - "UBERON:0003126", "HP:0000464", "UBERON:0000915", "UBERON:0005181", "UBERON:0005944", "UPHENO:0003020", - "UBERON:0004768", - "UPHENO:0081141", - "UPHENO:0069523", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0076766", - "UPHENO:0080300", - "UPHENO:0009382", - "UPHENO:0088047", + "UBERON:0005409", "UPHENO:0025945", "UBERON:0006048", "UPHENO:0021304", "HP:0001574", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "HP:0005607", + "UBERON:0001005", + "UPHENO:0056212", "HP:0000153", "UBERON:0001359", "HP:0000104", "UPHENO:0082875", "HP:0011355", - "UPHENO:0056212", - "UPHENO:0081598", - "UBERON:0000993", - "UBERON:0002102", - "UPHENO:0003811", - "UPHENO:0025211", - "UPHENO:0087548", - "UBERON:0000061", - "UBERON:0035639", - "GO:1901360", - "UPHENO:0056333", - "UBERON:0002616", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "HP:0012443", "UPHENO:0088185", - "UBERON:0002544", - "UBERON:0007779", - "GO:0021782", - "UPHENO:0087433", - "UBERON:0005358", "UPHENO:0005597", "UBERON:0005282", "UPHENO:0069391", @@ -2570,144 +2551,162 @@ def autocomplete(): "UBERON:0001270", "UBERON:0005281", "UBERON:0000154", - "UPHENO:0088168", - "UBERON:0004451", - "UPHENO:0076805", - "UBERON:0000047", - "GO:0007275", - "HP:0000924", - "UBERON:0004121", "UBERON:0000475", "UPHENO:0076702", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", "HP:0012759", "HP:0007018", "HP:0002118", "HP:0006503", "UBERON:0002104", - "UPHENO:0049367", + "UPHENO:0025211", + "UPHENO:0087548", + "GO:1901360", + "UBERON:0000061", + "UBERON:0035639", + "UPHENO:0056333", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", "HP:0000369", "HP:0000118", "UBERON:0000978", + "UPHENO:0049367", "HP:0000465", - "UPHENO:0080221", - "BFO:0000001", - "UPHENO:0002635", - "HP:0001034", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", - "UBERON:0000481", - "HP:0000957", - "HP:0011121", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0074589", "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", - "UPHENO:0062527", - "UPHENO:0086824", - "UBERON:0000161", "HP:0009380", "UPHENO:0074228", "GO:0006807", "UPHENO:0002839", - "UPHENO:0087339", - "HP:0034915", - "HP:0006265", - "UPHENO:0078606", - "HP:0002023", - "UPHENO:0025100", - "HP:0000492", - "UPHENO:0076760", - "UBERON:0001691", - "UPHENO:0086595", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", "UBERON:0034921", - "UBERON:0001004", - "HP:0000315", - "UPHENO:0002910", "HP:0032039", "HP:0000422", "UPHENO:0086932", "UPHENO:0086699", "UBERON:0001819", - "HP:0010938", - "GO:0043170", - "HP:0008050", + "UPHENO:0087472", + "UBERON:0001004", + "HP:0000315", + "HP:0000271", + "UPHENO:0002910", + "UBERON:0000970", + "UBERON:0004742", + "UPHENO:0025100", + "HP:0000492", "UPHENO:0003058", "UBERON:0000025", "UBERON:0004088", - "UBERON:0000970", - "UPHENO:0087472", + "HP:0010938", + "GO:0043170", + "HP:0008050", "UPHENO:0076761", - "HP:0000271", - "HP:0001510", "HP:0001507", + "HP:0001510", "UPHENO:0049874", - "UBERON:5001463", - "UPHENO:0021474", "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", - "UBERON:0010230", - "UPHENO:0002598", - "HP:0100886", - "HP:0011400", - "HP:0012372", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0072195", - "HP:0002814", "HP:0001776", - "HP:0005656", - "UPHENO:0081575", "UBERON:0010709", - "HP:0000925", - "UBERON:0008784", + "HP:0005656", + "UPHENO:0072195", + "HP:0002814", "UPHENO:0050008", "HP:0006496", "UPHENO:0003070", - "HP:0011458", - "HP:0002818", - "GO:0071840", - "HP:0002813", - "HP:0002921", - "HP:0000277", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", + "UPHENO:0081575", + "HP:0000925", + "UBERON:0008784", + "HP:0002692", + "UBERON:0004756", ], "has_phenotype_closure_label": [ "decreased size of the kidney", - "tissue", "Bone marrow hypocellularity", "bone marrow", - "abnormal immune system", - "Abnormality of bone marrow cell morphology", - "bone cell", "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", - "snout", "increased width of the anatomical entity in independent continuant", - "abnormal nasal bridge morphology", - "increased width of anatomical entity", + "snout", "Abnormality of globe size", "Aplasia/Hypoplasia affecting the eye", - "abnormal biological_process in central nervous system", "central nervous system myelination", "gliogenesis", "decreased size of the eyeball of camera-type eye", @@ -2715,173 +2714,178 @@ def autocomplete(): "oligodendrocyte development", "nervous system development", "glial cell differentiation", - "cellular developmental process", "abnormal myelination in independent continuant", - "abnormal central nervous system 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", - "absent anatomical entity in the renal system", - "abnormal kidney morphology", - "cavitated compound organ", - "abnormal renal system", + "cellular developmental process", "abdomen element", "Abnormality of the kidney", - "Abnormality of the upper urinary tract", - "renal system", + "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 cell morphology", + "abnormal hematopoietic system", "hematopoietic system", + "abnormal cell morphology", "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal erythrocyte morphology", "oxygen accumulating cell", "hematopoietic cell", - "abnormal hematopoietic system", - "olfactory organ", - "curvature anatomical entity", + "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", - "nose", - "flat nose tip", + "olfactory organ", + "curvature anatomical entity", "Abnormal external nose morphology", - "abnormal 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", - "external male genitalia", - "Abnormal external genitalia", "abnormal penis", "male reproductive system", - "Abnormal renal morphology", - "abnormal external genitalia", - "decreased size of the external male genitalia", - "Orofacial cleft", - "Abnormal oral cavity morphology", - "abnormal oral cavity morphology", - "abnormal midface morphology", "anatomical cavity", - "Craniofacial cleft", "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", - "root", - "abnormal cerebellum 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", - "delayed myelination", - "abnormal hindbrain morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", "abnormal metencephalon morphology", - "Eumetazoa", - "Abnormal metencephalon morphology", - "regional part of brain", - "cerebellum hypoplasia", "Abnormal midface morphology", "regional part of nervous system", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Cerebellar hypoplasia", + "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", - "Aplasia of the uterus", - "female organism", - "reproductive structure", - "aplasia or hypoplasia of uterus", "bone marrow cell", "internal female genitalia", - "Abdominal symptom", - "Abnormal reproductive system morphology", "Wide nasal bridge", "abnormal internal female genitalia morphology", + "female organism", "abnormal female reproductive system", - "female reproductive system", - "Abnormal morphology of female internal genitalia", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "abnormal uterus", - "genitourinary 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", - "Abnormality of the uterus", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "absent external ear in the head", + "female reproductive system", + "aplasia or hypoplasia of uterus", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "absent anatomical entity in the head", "absent external ear", "Anotia", - "absent anatomical entity in the head", - "Hypoplastic male external genitalia", - "anatomical structure development", - "decreased developmental process", - "decreased qualitatively developmental process", + "absent external ear in the head", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", "decreased embryo development", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal embryo development", - "Intrauterine growth retardation", "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", - "Aplasia/Hypoplasia of the radius", - "Aplasia/hypoplasia involving forearm bones", - "zeugopod", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "arm bone", - "forelimb long bone", + "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", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", + "limb long bone", + "Aplasia/hypoplasia involving forearm bones", "embryo development", "abnormal radius bone morphology", "Aplasia involving forearm bones", - "Aplasia involving bones of the extremities", - "limb long bone", "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", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "forelimb zeugopod skeleton", - "abnormal facial skeleton morphology", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Hypoplastic facial bones", + "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", @@ -2889,57 +2893,103 @@ def autocomplete(): "immune system", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "Abnormality of the genital system", - "intramembranous bone", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of skull", - "Renal hypoplasia", - "bone of lower jaw", - "mandible hypoplasia", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "abnormal mouth", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "Absent thumb", - "abnormal autopod region morphology", - "subdivision of organism along appendicular axis", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", + "Abnormal mandible morphology", + "paired limb/fin segment", "multi-limb segment region", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "appendage", - "Abnormal digit morphology", - "cellular process", - "Aplasia/Hypoplasia of fingers", - "delayed biological_process in independent continuant", - "digitopodium 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", - "Hyperactivity", + "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", - "abnormal vertebral column", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", + "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", @@ -2947,122 +2997,124 @@ def autocomplete(): "Abnormality of globe location", "Aplasia/Hypoplasia involving the central nervous system", "Short neck", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "postcranial axial skeleton", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "cervical vertebra", - "organ system subdivision", - "Abnormality of the anus", - "system", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "skeletal element", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "membrane bone", - "abnormal cervical vertebra", - "dentary", + "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", - "skeleton", - "skeletal system", - "cervical vertebra endochondral element", - "decreased length of neck", "Abnormality of the eye", "abnormal pes morphology", - "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "segment of manus", - "protein-containing material entity", - "dorsum", - "cervical region", - "Abnormality of the vertebral column", - "Macule", - "decreased length of anatomical entity in independent continuant", - "abnormal size of anatomical entity", - "abnormal bone marrow cell", - "trunk", - "abnormal shape of continuant", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "external ear", - "Aplasia/Hypoplasia of the ear", - "sensory system", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of head or neck", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "Microtia", - "absent digit", - "Abnormal cellular phenotype", - "radius endochondral element", - "abnormal behavior", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "Abnormal forearm morphology", - "vertebra", - "Abnormal skeletal morphology", - "forelimb", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "material anatomical entity", + "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", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Reduced impulse control", - "abnormal location of external ear", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "craniocervical region", + "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", - "Talipes", - "Webbed neck", "quality", - "behavior process", "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", - "manual digit 1", "regulation of metabolic process", + "manual digit 1", "autopodial extension", "abnormal face", "upper urinary tract", @@ -3071,325 +3123,271 @@ def autocomplete(): "manual digitopodium region", "Abnormal respiratory system morphology", "cervical region of vertebral column", - "pelvic region element", + "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", - "organic cyclic compound metabolic process", + "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", - "pelvic complex", - "abnormal growth", - "abnormal anatomical entity", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Abnormal axial skeleton morphology", + "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 chromatin organization", - "Chromosome breakage", - "process", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "Atypical behavior", - "cellular metabolic process", - "simple eye", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "subdivision of skeleton", - "endochondral bone", + "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", - "forelimb zeugopod bone", - "nervous system", - "negative regulation of biological process", - "biological_process", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "ensheathment of neurons", - "regulation of cellular process", - "posterior region of body", - "pes", - "aplasia or hypoplasia of external ear", - "Abnormal tracheobronchial morphology", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "abnormal nervous system", - "chromatin organization", - "Reduced attention regulation", - "abnormal shape of external ear", - "abnormal limb bone morphology", - "abnormality of nervous system physiology", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "absent anatomical entity in the limb", - "Abnormal mandible morphology", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "Micrognathia", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Depressed nasal tip", - "Abnormality of mental function", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "metabolic process", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "abnormal opening of the anatomical entity", - "dorsal region element", - "body proper", - "abnormal primary metabolic process", - "neck", + "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", - "subdivision of vertebral column", "decreased size of the mandible", + "subdivision of vertebral column", "absent manual digit", "abnormal development of anatomical entity", "Abnormal thumb morphology", "subdivision of trunk", - "abnormal limb bone", - "sense organ", - "Abnormal nervous system morphology", - "limb", - "increased size of the anatomical entity", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "negative regulation of macromolecule biosynthetic process", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "lateral structure", - "regulation of biological process", + "axon ensheathment in central nervous system", + "eye", + "compound organ", "decreased qualitatively biological_process", "anatomical entity", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "abnormal cellular process", - "acropodium region", - "abnormally increased number of brain ventricle in the independent continuant", - "Abnormal anus morphology", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "secondary palate", - "organism", - "irregular bone", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "Renal agenesis", - "abnormal respiratory system", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "cellular component organization", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", "digit", - "anterior region of body", - "aplastic anatomical entity", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "Growth abnormality", - "axial skeletal system", - "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", - "Abnormality of metabolism/homeostasis", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "main body axis", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "eyelid", - "Abnormality of the ear", - "orbital region", - "protein-DNA complex organization", - "vestibulo-auditory system", - "non-connected functional system", - "Aplasia/hypoplasia of the extremities", - "forelimb bone", - "anatomical entity hypoplasia", - "head", - "abnormal eyelid morphology", - "manus", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "ear", - "organism subdivision", + "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", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "appendage girdle complex", - "subdivision of head", - "Abnormality of brain morphology", + "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", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", "dermal skeleton", "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", + "anatomical conduit", + "abnormal limb morphology", "abdomen", "manual digit 1 plus metapodial segment", "trunk bone", "bone of appendage girdle complex", "anatomical wall", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "abnormal arm", "arm", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "dermatocranium", - "pectoral complex", - "paired limb/fin segment", - "axon ensheathment in central nervous system", - "compound organ", - "eye", - "cell differentiation", - "appendicular skeletal system", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "appendicular skeleton", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "developmental process", - "negative regulation of metabolic process", - "abdominal segment bone", - "manual digit 1 or 5", - "autopod region", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "anatomical conduit", - "abnormal limb morphology", "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", - "fused sacrum hypoplasia", - "abnormal fused sacrum morphology", + "Aplasia/Hypoplasia of the sacrum", "Global developmental delay", "biological regulation", "abdominal segment of trunk", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", + "bony pelvis", "bone element hypoplasia in independent continuant", "abnormal penis morphology", "hindlimb", - "aplasia or hypoplasia of fused sacrum", - "Aplasia/Hypoplasia of the sacrum", - "Delayed CNS myelination", - "fused sacrum", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "bony pelvis", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", "Aplasia/Hypoplasia of facial bones", "musculoskeletal system", "abnormal cellular metabolic process", "Hypoplastic sacrum", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", + "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", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "abnormality of respiratory system physiology", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal tracheal 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", @@ -3398,40 +3396,38 @@ def autocomplete(): "programmed DNA elimination", "digestive system", "subdivision of tube", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "Aplasia/Hypoplasia of the external ear", - "trunk region element", - "endoderm-derived structure", + "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", - "thoracic segment organ", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", + "respiratory tube", "abnormal nose tip morphology", "alimentary part of gastrointestinal system atresia", "respiratory tract", - "respiratory tube", "forelimb endochondral element", "primary metabolic process", "Abnormality of the skin", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "tube", - "respiratory airway", + "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", @@ -3440,142 +3436,146 @@ def autocomplete(): "delayed biological_process", "Abnormality of the cervical spine", "abnormal digestive system", - "cerebrospinal fluid", - "Abnormality of the head", - "organic substance metabolic process", - "abnormal pigmentation", + "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", - "Abnormality of the urinary system", - "abnormal anus morphology", - "Morphological central nervous system abnormality", - "organ component layer", "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", - "abnormally increased number of anatomical entity", "abnormal central nervous system morphology", "transudate", "Cafe-au-lait spot", "increased length of the anatomical entity", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", "myelination", "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal nervous system morphology", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "anatomical point", - "ventricle of nervous system", - "subdivision of organism along main body axis", - "dermal skeletal element", "Gastrointestinal atresia", "abnormal location of anatomical entity", "abnormal location of ear", "abnormal ocular adnexa", - "Decreased external ear position", "abnormal anatomical entity topology in independent continuant", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anatomical entity morphology", - "increased pigmentation", + "Decreased external ear position", "external nose", "changed biological_process rate", "increased biological_process in skin of body", "abnormal external ear", "increased biological_process", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Neurodevelopmental delay", - "abnormal skin of body", "increased size of the anatomical entity in independent continuant", "Abnormality of the integument", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "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", - "neural crest-derived structure", + "abnormal anatomical entity morphology", + "increased pigmentation", "Phenotypic abnormality", "increased pigmentation in skin of body", "abnormal hindlimb morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "abnormal anus", "abnormal response to stimulus", "abnormal closing of the anatomical entity", - "abnormal anus", "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", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "camera-type eye", "reproductive organ", "abnormal skull morphology", "anus atresia", "abnormal palpebral fissure", - "Abnormal ocular adnexa morphology", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "ocular adnexa", - "Abnormality of the face", "abnormal face morphology", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", + "ocular adnexa", + "camera-type eye", "delayed growth", - "increased anatomical entity length in independent continuant", "abnormal eyeball of camera-type eye", - "anatomical line", + "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", - "Talipes equinovarus", "Aplasia/hypoplasia of the uterus", "Hyperpigmentation of the skin", "Bilateral talipes equinovarus", - "flattened anatomical entity", - "abnormal manus", - "bone element hypoplasia in face", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", - "facial bone hypoplasia", + "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", - "aplasia or hypoplasia of mandible", - "abnormal head", - "jaw region", - "abnormal male reproductive system", - "abnormal mouth 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": None, @@ -3678,114 +3678,97 @@ def autocomplete(): "Horseshoe kidney", ], "has_phenotype_closure": [ - "UPHENO:0041226", "HP:0000085", + "UPHENO:0041465", "UPHENO:0082444", + "UPHENO:0041226", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0041465", - "HP:0003254", - "HP:0003213", - "UPHENO:0049964", - "UPHENO:0051124", "GO:0051716", "GO:0006950", - "GO:0051319", + "HP:0003213", + "UPHENO:0051124", + "HP:0003254", + "UPHENO:0049964", "GO:0007049", - "GO:0050954", - "UPHENO:0041075", - "GO:0007600", - "HP:0000598", - "GO:0007605", + "GO:0051319", "UPHENO:0050625", "HP:0000364", + "GO:0007605", "UPHENO:0005518", + "HP:0000598", + "GO:0050954", "UPHENO:0052970", "UBERON:0002105", - "NBO:0000338", - "UPHENO:0049586", - "HP:0000708", - "UPHENO:0049622", + "UPHENO:0041075", + "GO:0007600", "GO:0007610", - "HP:0000486", - "UBERON:0006800", - "BFO:0000141", + "HP:0000708", "HP:0000549", - "HP:0000496", + "HP:0000486", + "UPHENO:0049622", "NBO:0000444", + "HP:0000496", "UBERON:0010222", - "UPHENO:0079828", "UPHENO:0080585", - "GO:0050896", + "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:0080351", "UPHENO:0075159", "HP:0000081", "UPHENO:0075787", + "HP:0002664", + "HP:0011793", "HP:0001909", "HP:0004377", - "HP:0011793", - "HP:0002664", - "UBERON:0000477", - "GO:0008015", + "HP:0002597", "HP:0001892", "HP:0011029", - "HP:0002597", "UPHENO:0002678", - "GO:0003013", + "UBERON:0000477", "HP:0000978", "UPHENO:0051097", "HP:0001933", "UBERON:0007798", - "UPHENO:0084447", + "GO:0003013", + "GO:0008015", + "HP:0009943", + "HP:0011314", "HP:0009602", + "UPHENO:0087369", + "HP:0009942", "UBERON:0003221", "UBERON:0012357", - "HP:0011314", - "HP:0009943", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0087369", - "HP:0009942", "UPHENO:0021800", + "UPHENO:0084447", "GO:0022403", "UBERON:0004249", "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "GO:0010556", - "GO:0031326", - "GO:0009890", - "HP:0011276", - "UBERON:0005897", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "GO:0005623", + "UPHENO:0049873", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0010629", "GO:0065007", "UPHENO:0080581", "UPHENO:0050021", - "GO:0010629", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", "UPHENO:0000541", "UBERON:0001436", "GO:0010468", @@ -3793,151 +3776,174 @@ def autocomplete(): "GO:0010558", "GO:0031327", "GO:0006325", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", + "UPHENO:0049700", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "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", - "UPHENO:0049873", - "GO:0008152", - "HP:0000365", - "GO:0009987", + "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:0001263", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0082794", "GO:0040007", "UPHENO:0049874", + "UPHENO:0010763", "UBERON:0010543", "HP:0001507", - "UPHENO:0082794", - "UPHENO:0010763", "UPHENO:0054299", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0020041", - "HP:0000271", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", "UPHENO:0069523", - "UBERON:0000020", - "UPHENO:0087472", + "UPHENO:0080209", "GO:0033554", "UBERON:0000970", "UBERON:0001456", - "UBERON:0004088", - "HP:0000568", - "UBERON:0004456", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", "UPHENO:0087924", "HP:0100887", "HP:0000478", "UPHENO:0002910", + "UPHENO:0020041", + "HP:0000271", "HP:0011025", "HP:0000315", - "UPHENO:0080209", - "HP:0001896", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", "HP:0004312", + "HP:0001896", "UPHENO:0086002", "UPHENO:0049588", "CL:0000558", "UPHENO:0046505", + "UPHENO:0088186", "HP:0009381", - "UPHENO:0012541", "UPHENO:0002433", "CL:0000233", - "GO:0008150", - "UPHENO:0020888", + "UPHENO:0026506", "UBERON:0015061", "UBERON:0003129", - "UPHENO:0026506", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "NCBITaxon:2759", - "UPHENO:0084448", + "UBERON:0010708", "UBERON:0012139", - "UPHENO:0082761", - "CL:0000738", - "HP:0000027", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UBERON:0010363", - "HP:0002977", - "HP:0009777", - "UBERON:0010708", - "UBERON:0002204", - "UPHENO:0086700", - "UPHENO:0086019", "UBERON:0019221", "GO:0044848", "UBERON:0001460", "UBERON:0002513", "UBERON:0011138", "GO:0022414", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "HP:0045060", - "UPHENO:0086633", + "NCBITaxon:2759", "UBERON:0006717", "UPHENO:0001003", "UPHENO:0076810", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "CL:0000775", - "UPHENO:0088186", + "CL:0000225", "UBERON:0011582", "GO:0006996", "HP:0008678", "UPHENO:0085263", "UPHENO:0052178", - "CL:0000225", - "UBERON:0001440", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "GO:0003008", - "UBERON:0010538", - "HP:0001167", - "HP:0040064", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", + "UBERON:0002204", "UPHENO:0080300", "UPHENO:0009382", "UBERON:0004708", "UPHENO:0085068", "UPHENO:0021474", "UBERON:5001463", - "UBERON:0012140", - "UBERON:0005451", + "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", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", "UPHENO:0049952", "HP:0040068", "UPHENO:0002708", "UBERON:0012141", + "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", @@ -3947,19 +3953,18 @@ def autocomplete(): "GO:0034641", "HP:0000929", "HP:0010461", - "UBERON:0000153", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "HP:0012638", + "UPHENO:0053644", + "UBERON:8450002", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "UBERON:0003103", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0088321", "UPHENO:0049367", "UPHENO:0075997", "UBERON:0002371", @@ -3968,63 +3973,70 @@ def autocomplete(): "HP:0012373", "HP:0100542", "UBERON:0000916", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UPHENO:0085984", - "UBERON:0005173", - "UBERON:0005177", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", + "UPHENO:0002803", + "UBERON:0005172", + "CL:0001035", + "BFO:0000040", "UPHENO:0084766", "UBERON:0015212", - "BFO:0000040", - "BFO:0000004", - "UBERON:8450002", - "UPHENO:0053644", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", + "UPHENO:0059829", + "HP:0011991", "UBERON:0011250", "UPHENO:0086176", "UBERON:0010758", "UPHENO:0087846", - "UBERON:5006048", - "UBERON:0003133", - "UBERON:0003103", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UPHENO:0085984", "HP:0020047", "GO:0007276", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "GO:0032501", - "UBERON:0013701", + "HP:0001874", + "UPHENO:0076692", + "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", - "HP:0001874", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0063722", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0088335", - "HP:0000924", - "UBERON:0004121", + "UPHENO:0001002", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "UBERON:0008785", + "CL:0000255", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", "GO:0043170", "HP:0011961", "UPHENO:0077426", @@ -4033,12 +4045,6 @@ def autocomplete(): "UPHENO:0076724", "UPHENO:0081451", "UBERON:0002101", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", "HP:0000152", "GO:0048523", "HP:0000079", @@ -4046,266 +4052,256 @@ def autocomplete(): "UPHENO:0085330", "UPHENO:0076703", "HP:0003974", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UPHENO:0001002", - "UBERON:0000062", + "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:0005881", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:5002544", - "UPHENO:0087510", - "GO:0006281", - "BFO:0000002", - "HP:0012639", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0000467", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", + "UBERON:0008962", + "HP:0012210", + "UBERON:0001463", "HP:0001877", "UBERON:0002389", "UPHENO:0087349", "UBERON:0000468", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UBERON:0004120", - "HP:0005922", - "UBERON:0005178", - "UPHENO:0049701", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0012638", "UPHENO:0079876", "UPHENO:0053580", "UBERON:0011143", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "HP:0011991", - "UPHENO:0059829", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0087802", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0086016", + "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", - "UPHENO:0085371", - "HP:0025354", - "CL:0002242", - "UPHENO:0085405", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0080114", - "UPHENO:0005433", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0087427", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0002529", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UBERON:0003607", - "HP:0011844", - "HP:0007364", - "UPHENO:0080079", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0002219", - "UPHENO:0006910", - "UPHENO:0076805", - "UPHENO:0085189", "UBERON:0012475", "UPHENO:0002880", "HP:0001518", "HP:0100547", "HP:0032309", + "UPHENO:0087427", + "CL:0002242", + "UPHENO:0085405", "UPHENO:0078606", "HP:0006265", "UPHENO:0087123", - "UPHENO:0035025", - "UBERON:0000479", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", + "UPHENO:0087802", + "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", + "UBERON:0015001", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", + "UPHENO:0076805", + "UPHENO:0085189", "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", "HP:0000086", "CL:0000766", - "UBERON:0002091", - "UPHENO:0020584", + "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", - "UPHENO:0046624", - "UBERON:0004381", - "UPHENO:0011498", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0050108", - "HP:0100543", - "CL:0000408", - "GO:0007283", - "UPHENO:0075220", - "UPHENO:0087907", - "HP:0006501", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", + "UBERON:0001440", + "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", - "UPHENO:0086589", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", "UPHENO:0080377", "UBERON:0011137", "UBERON:0000489", "UBERON:0010323", - "UBERON:0002090", - "GO:0048232", - "UBERON:0001017", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0054970", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", "HP:0012758", "HP:0002011", "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0080362", - "BFO:0000001", - "UPHENO:0002635", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", "HP:0001626", - "UBERON:0001009", "UBERON:0000948", - "UPHENO:0005016", - "UBERON:0007100", - "NCBITaxon:6072", - "UPHENO:0076776", + "BFO:0000001", + "UPHENO:0002635", "UBERON:0000915", "UBERON:0005181", + "UPHENO:0080362", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0001009", "HP:0030680", - "UPHENO:0080221", + "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", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", "UBERON:0002102", "UPHENO:0003811", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "HP:0011121", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", "HP:0000002", "UPHENO:0076740", "HP:0000953", "UBERON:0004710", "UPHENO:0088162", - "UPHENO:0074589", "GO:0050794", "UPHENO:0085875", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001574", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", - "HP:0011028", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0003055", - "UBERON:0005156", - "UPHENO:0080126", - "UBERON:0015204", - "UPHENO:0003020", - "UBERON:0005944", - "UBERON:0000991", + "HP:0011121", "HP:0001903", "UPHENO:0004459", "UPHENO:0003116", - "UPHENO:0066972", - "HP:0000818", - "UBERON:0000990", - "HP:0008373", - "HP:0000118", + "UPHENO:0003055", "HP:0001876", + "HP:0000118", "UPHENO:0024906", "HP:0000078", - "UPHENO:0082875", + "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", @@ -4319,251 +4315,252 @@ def autocomplete(): "CL:0000232", "UBERON:0004375", "HP:0011873", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", "UPHENO:0087089", "CL:0000764", "UBERON:0001474", "CL:0000329", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000457", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", "UPHENO:0086045", "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0011584", - "UPHENO:0084987", "UPHENO:0085042", "HP:0012145", - "UPHENO:0084761", - "HP:0001872", + "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", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0086201", - "HP:0001000", - "UPHENO:0080382", - "GO:0003006", + "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", - "UPHENO:0052231", - "HP:0000028", "HP:0001627", "UPHENO:0049970", - "GO:0000003", - "HP:0000811", - "HP:0005918", - "HP:0012243", + "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", - "UBERON:0011676", "HP:0002973", + "UBERON:0011676", "HP:0000025", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0004288", "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", - "HP:0008669", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UPHENO:0079826", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", "UPHENO:0086635", "HP:0000240", "HP:0000812", "UBERON:0015021", "UBERON:0002386", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", + "UPHENO:0086198", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", "UBERON:0015063", "UPHENO:0078729", "UBERON:0000463", "UPHENO:0078452", - "UPHENO:0053298", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", + "HP:0005918", + "HP:0012243", + "UBERON:0013702", + "UPHENO:0080187", "UBERON:0000955", "UBERON:0010703", + "GO:0006725", + "UPHENO:0087501", "UBERON:0010912", "CL:0000094", "HP:0040072", - "UPHENO:0086956", - "GO:0071840", - "HP:0002813", - "HP:0002818", "UPHENO:0079872", "UPHENO:0009341", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0013702", - "UPHENO:0080187", + "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", - "UBERON:0001423", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", "UBERON:0010741", "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UPHENO:0005651", - "UPHENO:0076718", - "HP:0040070", - "UPHENO:0008668", - "UPHENO:0068971", - "UPHENO:0046411", + "UPHENO:0012541", "HP:0004325", "UPHENO:0031839", + "UPHENO:0046411", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "UPHENO:0008668", + "UPHENO:0068971", ], "has_phenotype_closure_label": [ - "shape anatomical entity", "Horseshoe kidney", + "shape anatomical entity", "3-D shape anatomical entity", "U-shaped anatomical entity", - "DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", "abnormal response to stress", + "DNA repair", + "response to stress", "abnormal cellular response to stress", "abnormal DNA repair", - "response to stress", - "cell cycle phase", + "Deficient excision of UV-induced pyrimidine dimers in DNA", "Abnormality of the cell cycle", "G2 phase", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormal ear", + "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", - "anatomical line", - "immaterial anatomical entity", - "Strabismus", - "abnormal response to stimulus", "response to stimulus", - "behavior process", - "abnormal eye movement", "eye movement", - "behavior", - "delayed biological_process", - "Short stature", + "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", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Neoplasm", "Hematological neoplasm", - "Generalized abnormality of skin", - "Internal hemorrhage", + "vasculature", "Abnormality of the vasculature", "blood circulation", - "Vascular skin abnormality", - "Abnormality of blood circulation", - "vasculature", - "abnormality of cardiovascular system physiology", - "Abnormal bleeding", "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", + "manual digit bone", "Duplication of bones involving the upper extremities", - "phalanx", "phalanx endochondral element", "manual digit phalanx endochondral element", - "abnormal phalanx morphology", - "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", + "abnormal phalanx morphology", "acropodial skeleton", - "manual digit bone", + "abnormal phalanx of manus morphology", + "Abnormality of thumb phalanx", + "phalanx", "digit 1 digitopodial skeleton", "manual digit digitopodial skeleton", "digitopodium bone", "skeleton of manual acropodium", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "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", - "Abnormality of DNA repair", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", + "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", @@ -4575,125 +4572,103 @@ def autocomplete(): "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "abnormal growth", + "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", - "decreased anatomical entity mass", - "abnormal size of eyeball of camera-type eye", + "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", - "Abnormality of the face", - "simple eye", - "sensory system", + "abnormal camera-type eye morphology", "Abnormality of the eye", "abnormal face", - "sense organ", - "eyeball of camera-type eye", - "camera-type eye", - "Microphthalmia", "orbital region", - "Abnormality of the orbital region", "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", + "abnormal size of eyeball of camera-type eye", "visual system", - "abnormally decreased number of reticulocyte", - "reticulocyte", - "multicellular organismal reproductive process", - "Non-obstructive azoospermia", - "axial skeleton plus cranial skeleton", + "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", - "system process", - "abnormal limb morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "appendicular skeletal system", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "entity", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", + "axial skeleton plus cranial skeleton", "Abnormal appendicular skeleton morphology", "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "system", - "aplasia or hypoplasia of manual digit 1", - "bone of appendage girdle complex", - "Abnormal finger phalanx morphology", - "pigmentation", + "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 limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "occurrent", + "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "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", - "paired limb/fin skeleton", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "digit plus metapodial segment", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "forelimb", - "Abnormal forebrain morphology", - "abnormal digit morphology", - "abnormal manus", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal skeletal system", - "digit 1 plus metapodial segment", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", @@ -4703,82 +4678,87 @@ def autocomplete(): "skeleton", "male gamete generation", "absent anatomical entity", - "regulation of metabolic process", - "Decreased body weight", - "autopodial extension", - "manual digit 1", - "abnormal immune system morphology", - "skeletal system", - "motile cell", - "Abnormality of limbs", - "Abnormality of limb bone morphology", "Abnormal digit morphology", - "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 cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "abnormally decreased number of myeloid cell", - "aplastic anatomical entity", - "face", - "aplasia or hypoplasia of manual digit", + "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", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "acropodium region", - "Intellectual disability", - "bone marrow", + "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", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "abnormal enucleated reticulocyte morphology", - "nucleate cell", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "sexual reproduction", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "Macule", - "renal system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "quality", "abnormal manus morphology", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", + "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", - "Aplasia/Hypoplasia of fingers", "digitopodium region", + "Aplasia/Hypoplasia of fingers", "abnormal myeloid cell morphology", "increased biological_process", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "hemolymphoid system", - "Aplasia/hypoplasia involving the skeleton", + "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", @@ -4790,18 +4770,69 @@ def autocomplete(): "Abnormal cerebral morphology", "abnormal blood circulation", "arm bone", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", + "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", - "abnormal immune system", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "abnormal renal system morphology", "abnormal forelimb morphology", "abnormal location of anatomical entity", @@ -4809,29 +4840,27 @@ def autocomplete(): "Hypermelanotic macule", "abnormal bone marrow morphology", "reproduction", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Abnormal cellular immune system morphology", - "Abnormal nervous system physiology", - "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "multicellular organism", "Thrombocytopenia", - "skeletal element", - "zeugopod", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "renal collecting system", - "Ectopic kidney", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", + "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", @@ -4839,9 +4868,9 @@ def autocomplete(): "Abnormality of neutrophils", "leukocyte", "abnormal gamete generation", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "continuant", + "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", @@ -4849,71 +4878,15 @@ def autocomplete(): "negative regulation of biosynthetic process", "material entity", "long bone", - "regional part of nervous system", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "abdominal segment element", - "abnormal reproductive system morphology", - "abnormal hematopoietic system", - "Renal agenesis", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "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", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "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", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "aplastic manual digit 1", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic cell morphology", - "viscus", - "Abnormal granulocyte morphology", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Complete duplication of phalanx of hand", - "limb bone", - "granulocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal nervous system", "paired limb/fin segment", "abnormality of camera-type eye physiology", "immune system", - "abnormally decreased number of leukocyte in the independent continuant", "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "Absent forearm bone", "Leukemia", "abnormal cell morphology", @@ -4929,6 +4902,34 @@ def autocomplete(): "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", @@ -4936,6 +4937,9 @@ def autocomplete(): "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", @@ -4945,94 +4949,83 @@ def autocomplete(): "compound organ", "zeugopodial skeleton", "limb long bone", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", "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", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "manual digit 1 plus metapodial segment", - "abdomen", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "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 nervous system", + "abnormal hematopoietic cell morphology", "biological phase", "autopod bone", "mesoderm-derived structure", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", + "abnormal manus", + "craniocervical region", + "abnormal forebrain morphology", "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", "abnormal craniocervical region morphology", "immaterial entity", "Abnormality of chromosome stability", "anatomical entity dysfunction in independent continuant", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "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", - "craniocervical region", + "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", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "kinesthetic behavior", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal forebrain morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal skull morphology", - "reproductive organ", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Decreased head circumference", + "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", @@ -5040,43 +5033,52 @@ def autocomplete(): "Abnormal axial skeleton morphology", "non-material anatomical boundary", "erythroid lineage cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", + "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", - "heart plus pericardium", - "Cryptorchidism", + "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", - "abnormal integument", - "Cafe-au-lait spot", - "abnormally decreased number of anatomical entity in the independent continuant", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Neutropenia", - "reproductive structure", "changed biological_process rate", "increased biological_process in skin of body", "absent germ cell", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Abnormality of the integument", "Neurodevelopmental delay", "abnormal skin of body", - "Abnormality of the integument", "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", - "integumental system", - "integument", - "absent radius bone in the forelimb", "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", @@ -5085,32 +5087,31 @@ def autocomplete(): "germ line cell", "abnormal pigmentation in independent continuant", "Abnormal forearm bone morphology", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "Abnormality of the head", - "heart", - "abnormal pigmentation", + "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", - "Abnormality of the genital system", + "abnormal endocrine system", + "abnormally decreased number of reticulocyte", + "Abnormality of the endocrine system", "Abnormality of reproductive system physiology", "gamete", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "glandular system", "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", - "oxygen accumulating cell", "abnormal erythrocyte morphology", + "oxygen accumulating cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", "manus bone", "radius bone", "Abnormality of the hand", @@ -5118,130 +5119,129 @@ def autocomplete(): "abnormal shape of continuant", "trunk", "abnormal bone marrow cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", "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", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", "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", - "digit 1", - "abnormal platelet morphology", + "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", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "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", - "abnormal internal genitalia", - "abnormal cell", - "disconnected anatomical group", - "male reproductive organ", - "internal genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "haploid cell", + "absent gamete", + "sperm", "abnormal gamete", "Reticulocytopenia", - "abnormal testis morphology", - "forelimb zeugopod", - "interphase", - "semen", "organism substance", - "Abnormal external genitalia", + "haploid cell", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "internal genitalia", + "abnormal internal genitalia", "platelet", "absent sperm in the independent continuant", - "male germ cell", - "abnormal granulocyte morphology", - "Azoospermia", "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", - "testis", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive 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", - "sperm", - "absent gamete", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "Abnormal testis morphology", + "abnormal granulocyte morphology", + "Azoospermia", "absent anatomical entity in the independent continuant", "abnormally localised testis", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "forelimb zeugopod skeleton", + "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", - "abnormal radius bone morphology", - "Absent radius", - "aplastic forelimb zeugopod bone", - "abnormal size of skull", - "forelimb long bone", "sensory perception of mechanical stimulus", "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", + "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", - "Short finger", "skeleton of digitopodium", "Short digit", - "anterior region of body", - "decreased length of manual digit 1", + "reticulocyte", ], "has_phenotype_count": 32, "highlight": None, @@ -5344,7 +5344,6 @@ def autocomplete(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", @@ -5361,19 +5360,21 @@ def autocomplete(): "HP:0002650", "HP:0000252", "HP:0001882", + "HP:0001510", "HP:0002863", "HP:0002119", - "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", + "HP:0001562", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -5392,7 +5393,6 @@ def autocomplete(): "HP:0001639", "HP:0001636", "HP:0001631", - "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", @@ -5452,7 +5452,6 @@ def autocomplete(): "Arteriovenous malformation", "Abnormal morphology of ulna", "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", @@ -5469,19 +5468,21 @@ def autocomplete(): "Scoliosis", "Microcephaly", "Leukopenia", + "Growth delay", "Myelodysplasia", "Ventriculomegaly", - "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", + "Oligohydramnios", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", + "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -5500,7 +5501,6 @@ def autocomplete(): "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", - "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", @@ -5551,151 +5551,151 @@ def autocomplete(): ], "has_phenotype_closure": [ "HP:0001010", + "UPHENO:0084987", "UPHENO:0085070", - "CL:0000458", "HP:0001873", - "UPHENO:0085344", + "UPHENO:0086173", + "CL:0000458", "UPHENO:0085189", - "UPHENO:0084987", "UPHENO:0086049", - "HP:0011875", "CL:0000233", "CL:0000457", - "UPHENO:0086173", + "UPHENO:0085344", + "HP:0011875", "HP:0001939", - "HP:0003220", "GO:0008152", + "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0030218", + "GO:0048871", + "UPHENO:0088162", + "UPHENO:0088170", + "CL:0000329", "HP:0010972", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", + "HP:0020047", + "CL:0000764", + "HP:0005522", "HP:0001877", "HP:0025461", "UPHENO:0084928", - "CL:0000329", - "UPHENO:0088162", - "GO:0048871", - "CL:0000764", - "GO:0048872", - "UPHENO:0088170", - "GO:0048869", + "GO:0030218", "GO:0002376", "GO:0009987", "GO:0042592", - "HP:0005522", - "HP:0020047", + "GO:0048869", "CL:0000232", + "GO:0048872", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0002818", "UBERON:0015001", "UPHENO:0080187", - "HP:0002818", - "UPHENO:0075198", "HP:0012745", + "UPHENO:0075198", "HP:0000010", "UPHENO:0002263", "UPHENO:0053644", "HP:0000028", - "UPHENO:0002806", - "UBERON:0000056", - "UBERON:0006555", "UBERON:0036295", + "UBERON:0006555", + "UPHENO:0002806", "HP:0025633", - "UPHENO:0002442", + "UBERON:0000056", "UPHENO:0086132", - "HP:0000083", + "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", + "HP:0000083", "HP:0000135", "HP:5201015", - "UPHENO:0081423", "UPHENO:0034110", "UPHENO:0063513", + "UPHENO:0081423", "HP:0000268", "UPHENO:0001208", - "UBERON:0013766", "UPHENO:0072402", "UBERON:0001084", - "UBERON:1000021", - "UPHENO:0087928", "UPHENO:0087058", - "HP:0000324", + "UBERON:0013766", + "UPHENO:0087928", + "UBERON:1000021", "UPHENO:0084734", "HP:0001999", + "HP:0000324", + "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0041084", - "UPHENO:0041083", "UPHENO:0076704", - "UBERON:0004768", - "UPHENO:0069249", + "UPHENO:0041083", "UPHENO:0081786", - "HP:0009116", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0003278", - "UBERON:0001684", + "UBERON:0004768", + "HP:0004322", + "HP:0030791", + "HP:0000277", + "UPHENO:0083646", + "UPHENO:0081314", "UPHENO:0084457", "HP:0000286", "HP:0009118", "UPHENO:0088116", - "UBERON:0001710", - "UPHENO:0083646", - "UPHENO:0081314", - "HP:0004322", - "HP:0030791", "CL:0000081", "UBERON:0012360", - "HP:0011873", - "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0069249", + "UBERON:0001708", + "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", "UPHENO:0081141", + "HP:0009116", "HP:0000347", - "UPHENO:0080087", + "UBERON:0001710", "HP:0009122", - "HP:0000277", - "GO:0050954", - "HP:0000365", + "HP:0011873", + "UPHENO:0081788", "UPHENO:0005518", + "HP:0000365", + "GO:0050954", "UPHENO:0052970", - "HP:0000486", "HP:0000549", - "GO:0050953", + "HP:0000486", + "UPHENO:0052164", "UPHENO:0050236", + "GO:0050953", "GO:0034101", "UPHENO:0050622", - "UPHENO:0052164", - "UPHENO:0085881", "HP:0000520", + "UPHENO:0085881", "HP:0000568", "UPHENO:0075219", "HP:0100887", - "HP:0007670", + "UPHENO:0066972", + "UPHENO:0080581", "UPHENO:0079837", "HP:0000359", "HP:0000496", + "UPHENO:0079828", + "HP:0007670", + "UPHENO:0002240", "UPHENO:0080602", "UPHENO:0003044", - "UPHENO:0066972", - "UPHENO:0080581", "HP:0011821", "HP:0012547", "HP:0031704", - "UPHENO:0079828", - "UPHENO:0002240", - "UBERON:0003975", + "UBERON:0003100", "HP:0000008", - "UPHENO:0041033", - "HP:0000130", + "UBERON:0003975", "UPHENO:0003053", - "UBERON:0003100", - "HP:0002719", - "UPHENO:0076766", + "UPHENO:0041033", "HP:0010460", "UPHENO:0005170", "UBERON:0000993", "UBERON:0013515", + "HP:0000130", + "HP:0002719", + "UPHENO:0076766", "UBERON:0012358", "GO:0002262", "UBERON:0003620", @@ -5704,326 +5704,332 @@ def autocomplete(): "UBERON:0015025", "HP:0001172", "UBERON:0015024", - "UPHENO:0076724", "UPHENO:0021800", + "UPHENO:0076724", "UBERON:5102389", - "NBO:0000403", - "NBO:0000001", - "NBO:0000389", - "GO:0050905", - "NBO:0000338", - "UPHENO:0041151", - "UPHENO:0078622", + "GO:0007610", "HP:0000708", "HP:0001347", - "UPHENO:0049622", - "GO:0007610", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0083263", + "UPHENO:0049622", "UBERON:0004742", "NBO:0000388", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050613", + "HP:0100022", "UPHENO:0080585", + "UPHENO:0050613", + "NBO:0000403", + "NBO:0000001", "GO:0050896", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0050620", + "GO:0060004", "UPHENO:0050079", - "UPHENO:0050606", - "HP:0100022", + "GO:0050905", + "NBO:0000338", "UPHENO:0080393", + "HP:0001537", "UPHENO:0076794", "HP:0001551", - "HP:0001537", + "UBERON:0000474", + "HP:0010866", + "UPHENO:0086122", "UBERON:0003697", - "HP:0004299", - "UPHENO:0002712", - "HP:0003549", "HP:0004298", "UBERON:0007118", - "UPHENO:0086122", - "UBERON:0000474", - "HP:0010866", - "UBERON:0000173", - "HP:0001562", - "HP:0001560", - "UBERON:0000323", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0086128", - "UPHENO:0015329", + "HP:0003549", + "HP:0004299", + "UPHENO:0002712", + "UPHENO:0019890", "UPHENO:0069254", "UBERON:0002085", "UPHENO:0086857", - "UPHENO:0019890", - "GO:0007600", - "HP:0001671", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0084715", + "HP:0001714", "UPHENO:0019886", - "UBERON:0002094", - "UBERON:0003037", - "HP:0031654", + "HP:0001641", "HP:0011563", - "UPHENO:0042775", - "UBERON:0002099", - "UPHENO:0084482", + "UBERON:0010688", + "UPHENO:0086855", "HP:0000218", "UBERON:0002146", - "HP:0001714", - "UPHENO:0086864", + "GO:0007600", + "HP:0001671", + "UBERON:0003037", + "UBERON:0002094", + "HP:0011025", "UPHENO:0086863", "HP:0001707", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0084715", "UPHENO:0084489", "HP:0001636", - "HP:0001641", - "HP:0011025", - "UBERON:0010688", - "UPHENO:0086855", "HP:0011545", - "UPHENO:0024906", - "UPHENO:0077800", - "HP:0001637", - "UBERON:0018260", - "UBERON:0005983", - "UBERON:0000383", + "HP:0002623", + "UPHENO:0086854", + "UPHENO:0042775", + "UBERON:0002099", + "UPHENO:0086864", + "HP:0031654", + "UPHENO:0084482", "UPHENO:0076781", + "UBERON:0000383", + "UBERON:0005983", "HP:0001638", - "UBERON:0003513", - "HP:0001643", - "UBERON:0011695", + "UPHENO:0024906", + "UBERON:0018260", + "HP:0001637", + "UPHENO:0077800", + "UBERON:0004716", "UBERON:0003834", "UBERON:0005985", "UBERON:0018674", - "UPHENO:0087018", + "HP:0001643", "UPHENO:0087309", - "UBERON:0004716", + "UBERON:0011695", + "UBERON:0003513", "UPHENO:0015290", + "UPHENO:0087018", "UBERON:0006876", "UBERON:0002201", "UBERON:0003498", + "UBERON:0010191", + "UPHENO:0076809", "HP:0002692", "UBERON:0003519", - "UPHENO:0076809", - "UBERON:0010191", "HP:0001679", "UPHENO:0082454", + "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0041369", - "UPHENO:0078347", "UPHENO:0078246", + "UPHENO:0078347", "UBERON:0003457", "UBERON:0011300", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0008200", - "UBERON:0002020", - "UBERON:0000956", - "UBERON:0000203", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0084465", "HP:0002007", "HP:0430000", + "UPHENO:0086595", + "HP:0002538", "UPHENO:0076732", "UBERON:0007914", - "UBERON:0004756", - "UBERON:0001869", + "HP:0002683", + "UPHENO:0002700", "UPHENO:0055092", "UPHENO:0005994", + "UBERON:0008200", + "UBERON:0003528", + "UBERON:0000209", "UBERON:0004339", "UBERON:0010364", "UBERON:0011158", - "HP:0002683", - "UBERON:0003528", - "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0004756", + "UBERON:0001869", "HP:0000290", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0086595", - "HP:0002538", - "UPHENO:0084465", - "UBERON:0005401", "UBERON:0016529", - "UPHENO:0002700", + "UBERON:0005401", + "UBERON:0002410", + "UBERON:0000045", + "UPHENO:0087601", "HP:0001763", "UPHENO:0086978", "UPHENO:0087933", - "HP:0410015", - "UBERON:0002005", - "UBERON:0001808", - "UBERON:0003338", "UPHENO:0085068", "HP:0025028", - "UBERON:0000011", - "UPHENO:0087601", "UBERON:0001809", + "UBERON:0003338", "HP:0410014", - "HP:0012331", - "UPHENO:0087602", + "UPHENO:0002941", + "HP:0410015", + "UPHENO:0087121", + "UBERON:0002005", + "UBERON:0001808", + "HP:0002251", + "UPHENO:0020258", + "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", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UBERON:0002240", + "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", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0051077", + "HP:0000001", + "UPHENO:0087950", "UPHENO:0075148", "UBERON:0004249", "GO:0035295", - "UPHENO:0076744", - "HP:0040069", - "UBERON:0000464", - "HP:0011277", - "UPHENO:0063599", - "UPHENO:0076707", - "UPHENO:0087232", "UPHENO:0084729", "UBERON:0016880", - "UBERON:0005409", - "UPHENO:0086797", - "HP:0002242", + "UBERON:0000047", + "GO:0016331", + "HP:0000202", + "UPHENO:0052778", + "UPHENO:0055730", + "GO:0021915", + "UBERON:5101463", + "GO:0007399", + "GO:0060429", + "UPHENO:0077885", + "BFO:0000003", + "UBERON:0000003", "UPHENO:0076780", "UPHENO:0077854", "HP:0004323", - "UBERON:0034713", - "UPHENO:0005642", - "UPHENO:0019888", - "HP:0100627", - "UPHENO:0085876", - "UBERON:0001785", - "UBERON:0005162", - "UPHENO:0088186", - "HP:0045010", - "UBERON:0000010", + "UPHENO:0086797", + "HP:0002242", + "UBERON:0001043", + "HP:0001713", + "UBERON:0035554", + "UPHENO:0041410", "UBERON:0001530", "UPHENO:0076722", "UBERON:0001424", "HP:0002650", - "HP:0009484", + "UBERON:0000010", "UPHENO:0041146", - "UBERON:0000047", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0035133", - "NCBITaxon:6072", - "UPHENO:0076776", - "UPHENO:0088050", - "UPHENO:0087186", - "UPHENO:0081435", - "HP:0001760", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0045010", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0085876", + "UBERON:0001785", + "HP:0009484", + "UBERON:0034713", + "UPHENO:0005642", + "UPHENO:0019888", + "HP:0100627", "UPHENO:0004508", "BFO:0000020", "UBERON:0012354", - "HP:0012243", - "NCBITaxon:33154", - "UBERON:0011892", - "GO:0005623", - "UBERON:0006311", - "UPHENO:0021670", - "UPHENO:0079826", - "UPHENO:0072814", - "HP:0000553", - "HP:0008062", - "UPHENO:0081313", - "HP:0000483", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:5102544", - "HP:0040070", - "UPHENO:0076718", - "HP:0012443", - "UBERON:0001032", - "UBERON:0002616", - "UBERON:0002101", "UBERON:0003466", "HP:0000047", "UBERON:0000483", "BFO:0000141", - "UPHENO:0041664", - "UPHENO:0086817", - "HP:0100867", + "UBERON:0002514", + "HP:0011844", + "UBERON:0001434", + "HP:0002795", "UBERON:0004572", "UBERON:0004708", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0076718", + "HP:0040071", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0009792", + "UBERON:0004375", + "UPHENO:0021561", + "HP:0040070", + "UBERON:0008001", + "UPHENO:0031199", + "UBERON:0002204", + "UBERON:0001333", + "GO:0003008", + "UBERON:0004582", + "UPHENO:0086956", + "UBERON:0003607", + "UBERON:0015003", + "UBERON:0010712", "UBERON:0012475", + "UBERON:0004535", + "UPHENO:0002880", + "UBERON:0003914", "UPHENO:0020868", "HP:0002973", "HP:0000175", "UPHENO:0003098", "UBERON:0011676", "HP:0000025", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "UBERON:0002101", + "HP:0002817", + "UPHENO:0085118", + "UBERON:0010358", + "UBERON:0001062", + "UBERON:0000981", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + "UBERON:0005423", + "HP:0004207", "UPHENO:0076740", - "UBERON:0008001", - "UPHENO:0031199", - "UBERON:0002204", - "UBERON:0001333", - "UBERON:0003607", - "UPHENO:0002880", - "UBERON:0004535", - "UPHENO:0077877", - "HP:0000340", - "UPHENO:0002751", - "UBERON:0004766", - "HP:0007700", - "UPHENO:0088185", - "UBERON:0010712", - "GO:0003008", - "UBERON:0004582", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0040071", - "UPHENO:0021561", - "UBERON:0015003", - "UBERON:0001434", - "HP:0002795", - "UPHENO:0082356", - "UBERON:0001766", - "HP:0040064", "HP:0045005", "GO:0002009", "UPHENO:0087501", - "UPHENO:0080079", - "HP:0007364", - "UBERON:0002514", - "HP:0011844", - "UPHENO:0086956", - "UBERON:0000981", - "UBERON:0011584", - "UBERON:0004923", - "UBERON:0000026", - "UBERON:0005423", - "HP:0004207", - "UPHENO:0076703", - "UBERON:0005337", - "HP:0000582", "UBERON:0008962", "UPHENO:0011498", "UBERON:0000955", "UBERON:0002428", "HP:0000639", "UBERON:0003128", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "HP:0002817", - "UPHENO:0019766", - "HP:0000953", - "UPHENO:0018390", + "HP:0100867", + "HP:0040064", + "UPHENO:0076703", + "UBERON:0005337", + "HP:0000582", + "HP:0025015", + "UBERON:0000970", + "HP:0006495", "PATO:0000001", "UBERON:0003625", "HP:0002597", "UBERON:0002049", "UBERON:0001016", "UBERON:0002107", - "HP:0025015", - "UBERON:0000970", - "HP:0006495", - "UBERON:0007272", - "UBERON:0004537", - "UBERON:0000064", + "HP:0001710", + "UPHENO:0087363", + "UPHENO:0076776", + "UBERON:0035133", + "NCBITaxon:6072", "HP:0032101", "HP:0001511", "UPHENO:0080362", @@ -6031,21 +6037,25 @@ def autocomplete(): "UPHENO:0076729", "UPHENO:0063527", "UBERON:0004145", + "UBERON:0007272", + "UBERON:0004537", + "UBERON:0000064", + "UPHENO:0019766", + "HP:0000953", + "UPHENO:0018390", "UBERON:0008811", - "HP:0001629", - "UBERON:0004120", - "GO:0007605", - "UBERON:0010363", - "UPHENO:0087548", - "UBERON:0004151", - "UBERON:0035639", - "UPHENO:0003058", "UBERON:0001332", "UBERON:0010719", "UPHENO:0086792", "GO:0007275", "UPHENO:0078288", "UBERON:0000989", + "GO:0007605", + "UBERON:0010363", + "UPHENO:0087548", + "UBERON:0004151", + "UBERON:0035639", + "UPHENO:0003058", "GO:0001841", "UBERON:0002349", "UPHENO:0080662", @@ -6053,29 +6063,42 @@ def autocomplete(): "GO:0048646", "UPHENO:0046753", "UPHENO:0087907", + "HP:0001629", + "UBERON:0004120", "HP:0100543", "UBERON:0001075", "UPHENO:0050108", + "HP:0012759", + "HP:0002118", "HP:0009602", "HP:0012638", "HP:0001780", "HP:0006101", - "HP:0012759", - "HP:0002118", - "UBERON:0011107", - "GO:0050879", - "UPHENO:0076702", - "UBERON:0000475", + "HP:0006824", + "UPHENO:0002708", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0007779", + "UBERON:0012151", + "HP:0100026", + "GO:0040007", + "HP:0002921", + "HP:0002813", + "UPHENO:0003405", + "UBERON:0010418", + "UBERON:0005358", + "UPHENO:0087433", "UPHENO:0088123", "UPHENO:0079833", "UBERON:0004086", "UBERON:0000153", "UPHENO:0019898", "UPHENO:0075933", - "HP:0006824", - "UPHENO:0002708", - "HP:0002011", - "UPHENO:0081700", + "HP:0000238", + "GO:0050879", + "UPHENO:0076702", + "UBERON:0000475", + "UBERON:0011107", "HP:0000036", "UBERON:0005281", "UPHENO:0085874", @@ -6088,80 +6111,49 @@ def autocomplete(): "UPHENO:0005597", "UPHENO:0033635", "UBERON:0004771", - "UBERON:0012151", - "HP:0100026", - "GO:0040007", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "UPHENO:0080202", - "UBERON:0000995", - "UBERON:0010428", - "UBERON:0005358", - "UPHENO:0087433", - "UBERON:0007779", "UPHENO:0004523", "HP:0009115", - "UBERON:0010418", - "HP:0000238", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", "UPHENO:0056212", "UBERON:0002081", "UPHENO:0086610", - "UPHENO:0031193", - "HP:0002863", - "UBERON:0001021", - "UPHENO:0031170", "UBERON:0002471", "UPHENO:0087089", "HP:0012848", "UPHENO:0041098", "GO:0032502", "UPHENO:0002832", - "UBERON:0001460", - "HP:0032251", - "HP:0000152", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "UPHENO:0087472", - "UBERON:0001130", - "HP:0010161", - "GO:0007601", - "UBERON:0000465", - "UPHENO:0002598", - "UBERON:0001968", - "HP:0410043", - "UPHENO:0081709", - "UPHENO:0053298", - "UBERON:0000165", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", - "UBERON:0011137", - "HP:0012639", - "BFO:0000002", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "HP:0011218", "UPHENO:0002219", "HP:0000072", "UPHENO:0006910", - "HP:0000202", - "UPHENO:0052778", - "GO:0016331", - "UBERON:0001870", - "UBERON:0004175", - "UBERON:0011216", - "HP:0011024", - "UPHENO:0056237", - "HP:0012758", - "UBERON:0002193", - "UPHENO:0087846", - "BFO:0000004", + "GO:0035239", + "UBERON:0002091", + "UPHENO:0041591", + "UBERON:0003947", + "CL:0000019", + "UBERON:0002082", + "UPHENO:0084815", + "HP:0003026", + "UPHENO:0087665", "UBERON:0011249", "UPHENO:0005998", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0056333", - "UBERON:0003133", + "UBERON:0000062", + "HP:0005344", + "UBERON:0011582", + "HP:0010301", + "UPHENO:0031129", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "UPHENO:0031193", + "HP:0002863", "HP:0025354", "HP:0001646", "UPHENO:0050625", @@ -6169,6 +6161,9 @@ def autocomplete(): "UBERON:0001137", "HP:0004378", "UPHENO:0001002", + "UBERON:0003135", + "UPHENO:0002332", + "UBERON:0015030", "UBERON:0019264", "HP:0033353", "UPHENO:0020584", @@ -6176,60 +6171,62 @@ def autocomplete(): "UPHENO:0081566", "UPHENO:0014240", "HP:0000356", - "HP:0000153", - "HP:0100491", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0087531", - "UPHENO:0086198", - "HP:0000539", - "UBERON:0003135", - "UBERON:0011138", - "UBERON:0004571", - "UBERON:0000065", - "GO:0022414", + "UBERON:0001130", + "HP:0010161", + "GO:0007601", + "UBERON:0000465", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0021823", + "UPHENO:0085194", + "UBERON:0000991", + "HP:0000707", + "HP:0000795", + "UBERON:0000990", + "BFO:0000001", + "UPHENO:0002635", + "HP:0030311", + "UPHENO:0002371", + "BFO:0000004", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0056333", + "UBERON:0003133", + "GO:0048729", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "HP:0002414", + "UPHENO:0082129", + "HP:0003330", + "UPHENO:0001005", "UBERON:0003509", "UBERON:0015021", "HP:0001667", "HP:0000027", - "UBERON:0001049", - "HP:0034261", - "UPHENO:0020641", - "UPHENO:0076692", - "HP:0011961", + "UPHENO:0019477", + "UBERON:0011138", + "UBERON:0004571", + "UBERON:0000065", + "GO:0022414", + "HP:0045058", "UPHENO:0086005", "UPHENO:0087510", "GO:0009653", "UBERON:0000964", - "HP:0045058", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0001005", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0050881", - "HP:0008669", - "HP:0000505", - "UBERON:0006058", - "UBERON:0015203", - "UPHENO:0087022", - "UBERON:0001768", - "UBERON:0000991", - "NCBITaxon:131567", - "UBERON:0001981", - "UPHENO:0002406", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0005433", - "UBERON:0000990", - "UPHENO:0001003", - "UPHENO:0002332", - "UBERON:0015030", - "UBERON:0008784", - "UPHENO:0049970", - "HP:0001627", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0011137", + "HP:0012639", + "BFO:0000002", + "HP:0000481", + "UPHENO:0015280", + "HP:0001560", + "UPHENO:0075902", + "UBERON:0001007", + "UPHENO:0072194", + "UPHENO:0079876", "HP:0010468", "UPHENO:0076727", "UBERON:0003608", @@ -6238,152 +6235,82 @@ def autocomplete(): "UPHENO:0076739", "UPHENO:0005986", "CL:0002242", + "HP:0006501", + "HP:0001642", + "UPHENO:0005116", + "UBERON:0005181", "UBERON:0005291", "UPHENO:0081755", "UBERON:0002103", "UBERON:0003462", "NBO:0000411", "HP:0000163", - "HP:0008055", - "UPHENO:0041462", "UPHENO:0086201", - "HP:0000759", - "UPHENO:0076735", - "UPHENO:0078081", - "UBERON:0002495", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015063", "UPHENO:0080352", "HP:0025031", - "GO:0009888", - "HP:0000925", - "UPHENO:0075997", - "GO:0048598", - "UPHENO:0003055", - "GO:0008150", - "HP:0007565", - "UPHENO:0086700", - "UBERON:0003126", - "UBERON:0001009", - "UPHENO:0002830", - "CL:0000015", - "UBERON:0015228", - "UBERON:0002513", - "HP:0004362", - "GO:0032504", - "HP:0000078", - "UBERON:0000062", - "HP:0003468", - "UPHENO:0020950", - "UPHENO:0081424", - "UBERON:0000075", - "UPHENO:0087894", - "UPHENO:0002901", - "UPHENO:0021823", - "UPHENO:0085194", - "UPHENO:0081598", - "UBERON:0011595", - "UPHENO:0081608", - "UBERON:0001423", - "UBERON:0004176", - "UPHENO:0020748", - "UPHENO:0081584", - "UPHENO:0002595", - "HP:0012041", - "UBERON:0010313", - "HP:0000315", - "UBERON:0001004", - "HP:0000481", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001249", - "UBERON:0000479", - "UBERON:0001007", - "UPHENO:0072194", - "UPHENO:0079876", - "NCBITaxon:33208", - "UBERON:0011374", - "GO:0001843", - "UPHENO:0079839", - "UPHENO:0021672", - "HP:0012130", - "UBERON:0002405", - "NCBITaxon:2759", - "UPHENO:0076800", - "UBERON:0002386", - "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0003947", - "CL:0000019", - "UPHENO:0041591", - "UBERON:0002082", - "UPHENO:0084815", - "HP:0003026", - "UPHENO:0076957", - "UPHENO:0005651", - "UBERON:0005178", - "UBERON:0001436", - "UPHENO:0049701", + "UPHENO:0086621", + "HP:0010461", "UBERON:0000020", - "UPHENO:0080165", - "UPHENO:0087547", - "UBERON:0001638", - "CL:0000413", - "UPHENO:0041395", - "UBERON:0000922", - "UBERON:0007811", - "UPHENO:0084816", - "HP:0012252", - "UBERON:0000057", - "UPHENO:0088338", - "UPHENO:0077872", - "UBERON:0010409", - "UBERON:0002104", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "HP:0006501", - "HP:0001642", - "UBERON:0005181", - "UPHENO:0005116", - "UPHENO:0087665", - "HP:0000707", - "HP:0000795", - "HP:0011389", - "GO:0007276", - "UBERON:0004710", - "HP:0005773", - "UPHENO:0026028", - "UBERON:0001062", - "UPHENO:0085118", - "UBERON:0010358", - "UPHENO:0015303", - "UBERON:0010314", - "HP:0100691", - "GO:0003006", - "GO:0048609", - "UPHENO:0078267", + "HP:0000078", + "HP:0032251", + "UBERON:0001460", + "GO:0050881", + "HP:0008669", + "HP:0000505", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "UBERON:0001021", + "UPHENO:0031170", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0011159", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0086091", + "UPHENO:0002406", + "UPHENO:0082875", + "HP:0011355", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0012874", + "UBERON:0004529", + "UPHENO:0002598", + "UPHENO:0078729", + "UBERON:0002495", + "UBERON:0000463", + "UBERON:0015063", "UBERON:0010707", "UPHENO:0049985", + "UPHENO:0002595", + "UPHENO:0002992", + "HP:0007874", + "HP:0012041", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0087531", + "UPHENO:0086198", + "HP:0000539", + "HP:0000153", + "HP:0100491", + "UBERON:0001049", + "HP:0034261", + "UPHENO:0020641", + "UPHENO:0076692", + "HP:0011961", + "UBERON:0034923", "UBERON:0004054", "HP:0100736", "UPHENO:0087577", "UPHENO:0084834", - "UBERON:0034923", - "UPHENO:0020967", - "UBERON:0000473", - "UBERON:0000477", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0050101", - "UPHENO:0008523", - "UBERON:0010703", - "HP:0002823", + "UBERON:0001004", "UBERON:0002080", "UPHENO:0078452", "UBERON:0011779", @@ -6393,71 +6320,146 @@ def autocomplete(): "HP:0003022", "UPHENO:0026506", "GO:0032501", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0002075", - "UBERON:0012150", - "UBERON:0001486", - "CL:0000300", - "UPHENO:0020998", - "UBERON:0010538", - "UBERON:0005445", - "UPHENO:0046540", - "HP:0001626", - "GO:0000003", - "UPHENO:0087006", - "HP:0002119", - "GO:0048232", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005156", + "HP:0410043", + "UBERON:0000479", + "HP:0001249", + "UBERON:0001968", "HP:0001751", "HP:0000035", "UBERON:0001709", "UBERON:0016525", "UPHENO:0087973", "UPHENO:0075878", - "UPHENO:0077885", - "BFO:0000003", - "GO:0060429", - "UBERON:0000003", + "UPHENO:0033572", + "HP:0002246", "PR:000050567", - "HP:0000593", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0011159", - "UPHENO:0079872", + "UPHENO:0075684", + "HP:0030680", + "UPHENO:0002448", + "UPHENO:0056237", + "HP:0012758", + "UBERON:0002193", + "UPHENO:0087846", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0001870", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "HP:0000315", + "UBERON:0010313", + "UPHENO:0001003", + "HP:0000759", + "UPHENO:0076735", + "UPHENO:0078081", + "UBERON:0016879", + "UPHENO:0005433", + "UBERON:0005156", + "GO:0048232", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0010763", + "UBERON:0001009", + "UPHENO:0002830", + "CL:0000015", + "UBERON:0015228", + "UPHENO:0081598", + "UPHENO:0081608", + "UBERON:0011595", + "HP:0004362", + "UBERON:0002513", + "GO:0032504", + "UBERON:0001638", + "CL:0000413", + "UPHENO:0080165", + "UPHENO:0087547", + "NBO:0000416", + "HP:0001871", + "BFO:0000040", + "HP:0000152", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0041037", + "UPHENO:0078267", + "GO:0003006", + "GO:0048609", + "UPHENO:0081424", + "UBERON:0000075", + "UPHENO:0087894", + "UPHENO:0002901", + "HP:0011389", + "GO:0007276", + "UBERON:0004710", + "HP:0005773", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0088050", + "UBERON:0008784", + "UPHENO:0049970", + "HP:0001627", + "UBERON:0003126", + "UPHENO:0081584", + "UPHENO:0020748", + "UPHENO:0086700", + "UBERON:0002050", + "UBERON:0010703", + "HP:0002823", + "HP:0003468", + "UPHENO:0020950", + "UPHENO:0020967", + "UBERON:0000473", + "HP:0000234", + "UPHENO:0085873", + "UBERON:0002075", "UBERON:0002544", + "UPHENO:0087585", "UPHENO:0076695", "UBERON:0000060", - "UPHENO:0087585", - "UBERON:0016548", - "UPHENO:0088171", - "GO:0019953", - "UPHENO:0086091", - "HP:0001872", - "UBERON:0002100", - "UPHENO:0076675", - "HP:0012874", - "UBERON:0004529", - "HP:0005344", - "UBERON:0011582", - "UPHENO:0082467", - "UPHENO:0052178", - "HP:0010301", - "UPHENO:0031129", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0002635", - "HP:0030311", + "UBERON:0012150", + "UBERON:0001486", + "CL:0000300", + "UPHENO:0020998", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "HP:0001626", + "GO:0000003", + "UPHENO:0087006", + "HP:0002119", + "UBERON:0001436", + "UPHENO:0049701", + "UPHENO:0005651", + "UBERON:0005178", + "UPHENO:0026028", + "UPHENO:0015303", + "UBERON:0010314", + "HP:0100691", "UPHENO:0075208", "HP:0000811", "HP:0004328", - "UBERON:0016879", - "BFO:0000040", - "NBO:0000416", - "HP:0001871", + "UPHENO:0041395", + "UBERON:0000922", + "UBERON:0007811", + "UPHENO:0084816", + "HP:0012252", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0000057", + "UPHENO:0088338", + "UBERON:0011215", + "GO:0048856", + "HP:0006503", + "UPHENO:0076800", + "UBERON:0002386", + "HP:0002778", + "HP:0000812", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0084763", + "UBERON:0001691", + "UPHENO:0075220", "UBERON:0002105", "UPHENO:0081792", "UBERON:0022303", @@ -6468,8 +6470,14 @@ def autocomplete(): "UBERON:0011250", "UBERON:0001690", "UBERON:0015410", - "UPHENO:0002678", - "UPHENO:0051003", + "HP:0011842", + "UBERON:0001440", + "UPHENO:0075696", + "UBERON:0006598", + "UBERON:0004908", + "HP:0012243", + "HP:0005607", + "UBERON:0007798", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", @@ -6478,10 +6486,25 @@ def autocomplete(): "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", @@ -6490,237 +6513,155 @@ def autocomplete(): "UPHENO:0002378", "UPHENO:0076765", "HP:0002086", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", "HP:0000478", - "UBERON:0000481", - "HP:0000957", + "UPHENO:0041079", + "UBERON:0019231", + "HP:0031703", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", "HP:0011314", "UBERON:0001819", "UBERON:0003657", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "HP:0010461", - "UPHENO:0086621", - "RO:0002577", - "HP:0000951", "HP:0000364", "GO:0009790", "UPHENO:0081574", "UPHENO:0086159", "UPHENO:0076730", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0005607", - "UBERON:0007798", - "HP:0002664", + "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", - "HP:0011793", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "UPHENO:0071334", - "HP:0000032", "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", - "UBERON:0015212", - "UPHENO:0087478", - "UBERON:0001558", - "GO:0048731", - "UBERON:0001043", - "HP:0001713", - "UBERON:0035554", - "UPHENO:0041410", - "UPHENO:0071309", - "UPHENO:0002725", - "HP:0012718", - "CL:0000039", - "UBERON:0013765", - "OBI:0100026", - "UPHENO:0086633", - "UBERON:0004119", - "UPHENO:0080209", + "GO:0072175", + "HP:0002060", + "GO:0007283", + "UPHENO:0082449", "UPHENO:0087802", - "UPHENO:0075684", - "HP:0030680", - "UPHENO:0002448", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", + "UBERON:0010708", + "GO:0050890", + "UBERON:0000073", + "UBERON:0000019", + "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:0012373", - "UBERON:0002091", - "GO:0035239", - "HP:0000813", - "HP:0100542", - "UBERON:0000045", + "HP:0040004", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "UPHENO:0087924", + "UBERON:0001981", + "NCBITaxon:131567", "UPHENO:0002910", - "UBERON:0001272", - "GO:0007283", - "UPHENO:0082449", - "HP:0031703", - "UPHENO:0041079", - "UBERON:0019231", - "UBERON:0010708", - "GO:0050890", - "UBERON:0000019", - "UBERON:0000073", - "GO:0050882", - "UBERON:0013522", - "HP:0008438", - "UPHENO:0076798", - "UBERON:0010222", - "UPHENO:0076805", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0035148", - "HP:0000453", - "GO:0048729", - "UBERON:0016491", - "UBERON:0000033", - "UBERON:0006052", - "UPHENO:0033572", - "HP:0002246", - "HP:0001710", - "UPHENO:0087363", - "UBERON:0004375", - "GO:0009792", - "UBERON:5101463", - "GO:0007399", - "GO:0021915", - "HP:0002060", - "GO:0072175", - "UPHENO:0055730", - "UBERON:0005897", - "UBERON:0005174", - "UBERON:0010741", - "UPHENO:0041037", - "HP:0009121", - "HP:0005918", - "UBERON:0034944", - "UBERON:0011164", - "UPHENO:0075655", - "HP:0007874", - "UPHENO:0002992", - "UBERON:0002050", - "UBERON:0003914", - "UBERON:0003920", - "UBERON:0001801", - "UBERON:0010371", - "UPHENO:0015282", - "HP:0000366", - "UPHENO:0087307", - "UPHENO:0050034", - "HP:0003312", - "HP:0000119", - "GO:0043009", - "UBERON:0000061", - "UPHENO:0076803", - "GO:0001838", - "UBERON:0006717", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0002941", - "UPHENO:0019477", - "UPHENO:0076783", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", "UPHENO:0056072", "HP:0001549", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UPHENO:0020809", - "UBERON:0002108", "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:0077889", - "UBERON:0000161", - "UPHENO:0086824", "UPHENO:0074228", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", "UPHENO:0021304", "HP:0010293", - "UBERON:0013702", - "HP:0002023", - "UBERON:0002355", - "UPHENO:0087509", - "HP:0006265", + "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", - "UPHENO:0033559", - "UPHENO:0082794", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "HP:0000174", - "UBERON:0003978", - "HP:0001159", - "UBERON:0005725", - "UPHENO:0086858", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005623", - "UPHENO:0087612", - "UBERON:0004288", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UBERON:0002389", - "HP:0001654", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0010795", "UPHENO:0002839", "UPHENO:0086614", "UBERON:0000915", @@ -6729,163 +6670,194 @@ def autocomplete(): "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", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", "UPHENO:0015327", "UBERON:0019221", + "UBERON:0002389", + "HP:0001654", + "HP:0030669", + "UBERON:0000117", + "UBERON:0034921", + "HP:0032039", + "UBERON:0010912", + "UPHENO:0086144", "HP:0000492", "UPHENO:0080382", "HP:0200006", "UBERON:0001474", "UPHENO:0063722", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0021791", + "UBERON:0000179", "UPHENO:0003085", "GO:0030154", "UBERON:0004573", "UBERON:0015052", - "HP:0032039", - "HP:0030669", - "UBERON:0010912", - "UPHENO:0086144", - "UPHENO:0021791", - "UBERON:0000179", "UBERON:0000014", "UPHENO:0086680", "UPHENO:0076761", + "UBERON:0000965", + "UBERON:0005389", + "UBERON:0000477", + "HP:0000517", + "UPHENO:0086633", + "UBERON:0004119", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0088132", "HP:0000518", "HP:0001924", "UPHENO:0018424", - "UBERON:0000965", "UPHENO:0087578", - "UBERON:0005389", "HP:0000508", "GO:0048468", "UPHENO:0087214", "GO:0060562", "UPHENO:0041644", "UPHENO:0041667", - "UPHENO:0086699", + "UPHENO:0021517", "UBERON:0010913", + "UPHENO:0086699", "UBERON:0005726", "UPHENO:0086628", - "UPHENO:0021517", "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", - "UBERON:0002268", - "UPHENO:0085330", - "UBERON:0003129", - "UPHENO:0002642", - "UBERON:0010740", - "UBERON:0000004", - "UPHENO:0063595", - "HP:0000929", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", - "HP:0000415", - "HP:0100547", - "HP:0000144", - "UPHENO:0075852", "HP:0000080", + "UPHENO:0075852", "UBERON:0001008", - "UBERON:0012241", - "UPHENO:0002790", "UBERON:5101466", "HP:0032076", + "UBERON:0012241", + "UPHENO:0002790", + "HP:0000079", + "UBERON:8450002", + "HP:0010936", "UBERON:0001556", "UBERON:0000947", "HP:0001574", - "HP:0010936", - "UBERON:8450002", - "HP:0000079", + "HP:0200005", + "UPHENO:0065599", "HP:0010438", "HP:0000118", "UPHENO:0005995", "UPHENO:0020068", "UBERON:0007830", - "HP:0200005", - "UPHENO:0065599", - "HP:0000252", - "HP:0003272", + "HP:0007364", + "UPHENO:0080079", + "HP:0012130", + "UBERON:0002405", + "NCBITaxon:2759", + "UPHENO:0079839", + "UPHENO:0021672", + "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:0080200", "HP:0100886", "UPHENO:0020888", - "UBERON:0001893", - "UPHENO:0087518", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0004348", - "HP:0002715", - "UPHENO:0086045", - "UBERON:0001449", - "UBERON:0000178", - "HP:0011893", - "HP:0010987", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", + "HP:0000252", + "HP:0003272", "UPHENO:0088321", "UPHENO:0004459", "UPHENO:0003020", "UPHENO:0004536", "UPHENO:0003116", - "UBERON:0002390", + "HP:0004377", + "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", - "CL:0000255", - "CL:0000219", - "UPHENO:0002948", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", + "HP:0010987", + "HP:0011893", + "UBERON:0002390", "UPHENO:0085410", - "UPHENO:0001440", "UPHENO:0000541", "HP:0002031", "HP:0001373", "UBERON:0012476", "UPHENO:0000543", + "UPHENO:0001440", + "HP:0002624", + "UBERON:0002530", "UBERON:0002423", "UBERON:0002365", "UBERON:0002330", - "HP:0002012", - "UBERON:0015204", - "UPHENO:0080126", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000818", - "UPHENO:0084767", - "UBERON:0000916", "UBERON:0002417", "NBO:0000417", "HP:0000924", @@ -6894,26 +6866,38 @@ def autocomplete(): "UBERON:0002368", "CL:0000408", "UBERON:0005173", - "HP:0002624", - "UBERON:0002530", + "UBERON:0000916", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "HP:0002012", + "UBERON:0004092", "UPHENO:0002844", "UPHENO:0075995", - "UBERON:0004092", "UBERON:0000466", - "UBERON:0008785", - "UBERON:0000015", "UPHENO:0052675", "HP:0000316", + "UBERON:0008785", + "UBERON:0000015", "UPHENO:0042834", "UPHENO:0072195", "HP:0002814", "UBERON:0006800", "UPHENO:0049367", + "HP:0001197", + "UPHENO:0075949", + "UBERON:0000173", + "HP:0001562", + "NBO:0000313", + "HP:0002827", "UPHENO:0052231", "UPHENO:0081594", - "NCBITaxon:1", "UPHENO:0021474", "UPHENO:0087597", + "NCBITaxon:1", "UBERON:0002114", "UPHENO:0076748", "UBERON:0012152", @@ -6921,53 +6905,53 @@ def autocomplete(): "UBERON:0010696", "NBO:0000444", "UPHENO:0081344", - "UBERON:0000063", - "HP:0008056", - "UBERON:0007273", "HP:0002270", "UBERON:0015022", "UPHENO:0086866", "UBERON:0001445", - "HP:0011297", - "UBERON:0004248", "GO:0043473", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", "UBERON:0012142", "UBERON:0010758", "UBERON:0001890", "UPHENO:0081091", + "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", - "UPHENO:0087369", - "UPHENO:0082444", - "HP:0001639", - "UPHENO:0002896", - "UPHENO:0076806", + "UBERON:0010709", "HP:0040072", "UBERON:0004053", "UBERON:0001441", "UBERON:0015023", - "UPHENO:0081575", "UBERON:0001711", "UBERON:0003221", + "UPHENO:0087369", + "UPHENO:0081575", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", + "UPHENO:0033603", + "UBERON:0001466", "HP:0100760", - "UBERON:0010709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UBERON:0001769", - "UBERON:5002544", - "UBERON:0000154", - "HP:0031653", - "UBERON:0004122", - "HP:0009826", - "UPHENO:0033616", - "HP:0001384", "CL:0000763", "UPHENO:0049586", "UBERON:0010742", @@ -6975,228 +6959,244 @@ def autocomplete(): "HP:0040068", "UBERON:0002470", "UBERON:0012139", - "HP:0001824", - "UBERON:0004709", - "UPHENO:0033603", - "UBERON:0001466", - "UBERON:0000978", - "UPHENO:0087123", - "HP:0000077", - "UBERON:0002199", "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:0034768", - "UPHENO:0081570", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", - "UBERON:0002553", - "HP:0031816", - "UPHENO:0075843", - "HP:0000172", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0002553", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0004089", "UPHENO:0088088", + "UBERON:0034768", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UPHENO:0081570", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0080221", - "HP:0001034", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "HP:0000309", - "UPHENO:0082682", + "UPHENO:0021670", + "HP:0000553", + "UPHENO:0041664", + "UPHENO:0086817", + "UBERON:0000063", + "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", + "HP:0000593", "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:0008053", - "UPHENO:0022529", - "UPHENO:0054957", - "UPHENO:0084511", + "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:0080601", - "UPHENO:0086172", - "UPHENO:0074589", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0049940", - "UPHENO:0084761", "UBERON:0002384", "UBERON:0012141", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0084766", - "UPHENO:0080201", "UBERON:0003101", + "UPHENO:0080201", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0085371", + "UPHENO:0076723", "HP:0045060", + "CL:0000151", + "HP:0001510", + "HP:0001167", "HP:0008373", "HP:0005927", - "UPHENO:0085371", - "UPHENO:0076723", + "UPHENO:0084766", "UPHENO:0084653", "UBERON:0005451", "HP:0005922", "UPHENO:0082671", "UPHENO:0078179", + "UPHENO:0082835", "HP:0011849", "HP:0010469", "UBERON:0008202", "UPHENO:0082834", "HP:0004209", "UPHENO:0087203", - "UPHENO:0082835", "UBERON:0002412", "GO:0001503", - "HP:0011446", - "HP:0030084", + "HP:0009179", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", "HP:0000377", "HP:0004097", + "HP:0011446", + "HP:0030084", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UPHENO:0080369", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0076736", - "HP:0009179", "UBERON:5003625", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0081790", - "HP:0200007", - "HP:0009821", + "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:0001001", - "UPHENO:0087892", - "UPHENO:0060026", - "HP:0001367", + "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", - "NBO:0000313", - "HP:0002827", - "UBERON:0000982", - "UBERON:0005913", - "UBERON:0001271", + "UBERON:0003463", + "UPHENO:0060026", + "HP:0001367", "UBERON:0003828", "UPHENO:0075945", - "UBERON:0003463", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0001464", + "UPHENO:0001001", + "UPHENO:0087892", "UBERON:0008114", "UBERON:0007828", "UBERON:0003840", - "UPHENO:0087974", - "UBERON:0004770", - "HP:0002644", - "UBERON:5002389", - "UPHENO:0087558", "HP:0000271", "UBERON:0005893", + "UBERON:5002389", + "UPHENO:0087558", "UBERON:0001712", "UBERON:0001950", "UBERON:0003826", - "UBERON:0016526", - "UPHENO:0010795", - "UBERON:0001805", - "HP:0002251", - "UBERON:0004121", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0020258", - "UPHENO:0087121", - "UBERON:0002410", + "HP:0012331", ], "has_phenotype_closure_label": [ - "decreased biological_process in multicellular organism", "decreased qualitatively pigmentation in independent continuant", - "Hypopigmentation of the skin", - "decreased qualitatively biological_process 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 platelet", "abnormally decreased number of myeloid cell", - "abnormal blood cell", + "abnormally decreased number of platelet", "abnormal platelet", "anucleate cell", "secretory cell", + "abnormal blood cell", "obsolete cell", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "decreased size of the multicellular organism", "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", - "cellular developmental process", - "abnormal erythroid lineage cell morphology", "erythroid lineage cell", - "Sideroblastic anemia", - "Abnormal myeloid cell morphology", + "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", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", "homeostasis of number of cells", - "oxygen accumulating cell", - "Anemia of inadequate production", - "radius bone", + "cellular developmental process", "Abnormal morphology of the radius", - "aplasia or hypoplasia of radius bone", "abnormal radius bone morphology", + "aplasia or hypoplasia of radius bone", + "radius bone", "Neurodevelopmental delay", - "abnormal size of palpebral fissure", "decreased length of palpebral fissure", "Abnormal size of the palpebral fissures", - "Abnormality of immune system physiology", + "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", @@ -7210,178 +7210,167 @@ def autocomplete(): "abnormally decreased functionality of the gonad", "Cleft palate", "Craniofacial cleft", - "increased height of the anatomical entity", "increased height of anatomical entity in independent continuant", + "increased height of the anatomical entity", "High palate", - "Increased head circumference", "increased size of the head", + "Increased head circumference", + "skin of head", "increased length of the epicanthal fold", - "upper eyelid", - "zone of skin", "Epicanthus", - "skin of head", "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", - "abnormal facial skeleton morphology", - "Hypoplastic facial bones", + "mandible hypoplasia", + "bone element hypoplasia in face", + "decreased size of the mandible", + "bone of lower jaw", + "lower jaw region", "facial skeleton", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "bone of lower jaw", - "mandible hypoplasia", - "abnormal mandible morphology", "Abnormal mandible morphology", - "lower jaw region", "facial bone hypoplasia", - "decreased size of the mandible", - "bone element hypoplasia in face", + "anatomical entity hypoplasia in face", + "abnormal mandible morphology", + "Hypoplastic facial bones", + "abnormal facial skeleton morphology", "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", "abnormal sensory perception of sound", - "Hearing abnormality", "sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", "Abnormal conjugate eye movement", "Strabismus", - "sensory perception of light stimulus", - "abnormal sensory perception of light stimulus", "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", - "Abnormality of globe size", - "Abnormality of eye movement", "cranial nerve related reflex", - "Abnormal vestibulo-ocular reflex", "Abnormal vestibular function", + "Abnormality of eye movement", "abnormality of ear physiology", + "eye movement", "abnormal eye movement", "abnormal physiologic nystagmus", - "eye movement", "abnormal vestibulo-ocular reflex", - "shape uterus", - "abnormal uterus", - "female organism", + "Abnormal vestibulo-ocular reflex", "internal female genitalia", "abnormal internal female genitalia morphology", - "Abnormality of the female genitalia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "female organism", + "abnormal uterus", "abnormal female reproductive system", - "oviduct", "bicornuate anatomical entity", - "uterus", + "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", + "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", - "manual digit 1 digitopodial skeleton", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "manual digit 1", "abnormal female reproductive system morphology", "digit 1 digitopodial skeleton", "skeleton of manual acropodium", "skeleton of manual digitopodium", - "Bicornuate uterus", - "abnormal behavior", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", "body part movement", "neuromuscular process", "voluntary musculoskeletal movement", "kinesthetic behavior", - "increased qualitatively response to stimulus", - "abnormal voluntary musculoskeletal movement", - "Hyperreflexia", - "reflex", + "multicellular organismal movement", "Abnormality of movement", + "abnormal voluntary musculoskeletal movement", "Recurrent urinary tract infections", "involuntary movement behavior", - "multicellular organismal movement", + "Bicornuate uterus", + "abnormal behavior", + "Hyperreflexia", + "increased qualitatively response to stimulus", + "reflex", "abnormal response to external stimulus", "decreased embryo development", "abnormal embryo development", - "Abnormal umbilicus morphology", - "Hernia", - "Hernia of the abdominal wall", + "herniated abdominal wall", "Abnormality of connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", "Abnormality of the abdominal wall", + "Hernia", + "herniated anatomical entity", + "Hernia of the abdominal wall", + "Abnormal umbilicus morphology", "umbilicus", "connective tissue", - "herniated anatomical entity", - "herniated abdominal wall", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "abnormal amniotic fluid", - "Abnormality of prenatal development or birth", - "Renal insufficiency", - "late embryo", - "Oligohydramnios", - "amniotic fluid", + "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", - "abnormal cardiac atrium morphology", - "abnormal interatrial 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", - "interventricular septum", "abnormal hematopoietic cell morphology", "Abnormal connection of the cardiac segments", - "abnormally increased volume of anatomical entity", "Ventricular hypertrophy", "abnormal pulmonary valve morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "cardiac septum", + "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", - "abnormal cardiac septum morphology", - "hypertrophic cardiac ventricle", "hypertrophic heart right ventricle", + "heart layer", "Abnormal myocardium morphology", "layer of muscle tissue", "abnormal myocardium morphology", - "heart layer", "abnormal abdominal wall", "embryonic cardiovascular system", "heart vasculature", "response to stimulus", "ductus arteriosus", - "abnormal coronary vessel morphology", "abnormal number of anatomical enitites of type myeloid cell", "thoracic segment blood vessel", "coronary vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", + "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", "abnormal incomplete closing of the ductus arteriosus", @@ -7390,187 +7379,175 @@ def autocomplete(): "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", - "aorta", "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", - "shape longitudinal arch of pes", "Pes planus", "flat anatomical entity", - "abnormally fused anatomical entity and pedal digit", "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", - "neurocranium bone", "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", - "neurocranium", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal head bone morphology", - "abnormal shape of frontal cortex", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", "abnormal vault of skull", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", + "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", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", "vertebral column", - "vertebra", + "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 neural tube 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", - "tube formation", - "neural tube", - "presumptive structure", "Abnormality of the inner ear", "abnormal vertebral column morphology", - "face", - "aplasia or hypoplasia of manual digit", - "Abnormality of the vasculature", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "Vertebral arch anomaly", + "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 systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal common carotid artery plus branches morphology", - "jaw region", - "artery", - "abnormal anatomical entity 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", - "Abnormality of the orbital region", - "roof of mouth", "paralysed cranial nerve", - "Abnormal cranial nerve physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal neocortex morphology", - "decreased biological_process", - "Eukaryota", - "Eumetazoa", - "Aplasia/Hypoplasia affecting the uvea", - "anterior uvea", - "vestibulo-auditory system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "head bone", - "shape digit", - "multi-tissue structure", - "bodily fluid", - "abnormal peripheral nervous system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "appendage girdle complex", - "subdivision of head", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "Abnormal morphology of ulna", - "Aplasia/Hypoplasia of the iris", - "mouth", - "spinal cord", - "appendicular skeleton", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "abnormally formed anatomical entity", - "absent sperm", + "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", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "Abnormality of limbs", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "appendage girdle complex", + "subdivision of head", "ulna endochondral element", "abnormal shape of cornea", "abnormal forebrain morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "neural tube formation", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "Anal atresia", - "postcranial axial skeletal system", - "Clubbing of toes", - "Abnormal uvea 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", - "zeugopod", - "skeletal element", + "Abnormal forebrain morphology", "paired limb/fin", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "bone element", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal digestive system morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", "septum", "Abnormality of limb bone morphology", - "Abnormal forearm bone morphology", - "root", - "Abnormal forebrain morphology", "developing anatomical structure", "skeleton of limb", "forelimb zeugopod skeleton", @@ -7578,51 +7555,75 @@ def autocomplete(): "subdivision of oviduct", "limb bone", "pectoral appendage skeleton", - "Abnormal blood vessel morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", + "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 vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", "abnormal cardiovascular system", "Abnormal reproductive system morphology", "abnormal blood vessel morphology", "abnormal parasympathetic nervous system morphology", "abnormal embryo morphology", "Abnormal venous morphology", - "Aplasia/Hypoplasia affecting the eye", "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", - "Abnormality of the forehead", - "intromittent organ", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", "organism", "secondary palate", - "penis", - "Orofacial cleft", - "digestive system element", "autopod bone", "Neurodevelopmental abnormality", "manual digit phalanx endochondral element", @@ -7632,30 +7633,11 @@ def autocomplete(): "abnormal cardiovascular system morphology", "Abnormality of mental function", "nervous system process", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "abnormality of internal male genitalia physiology", - "decreased length of forelimb zeugopod bone", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", + "skeleton of digitopodium", "Abnormal preputium morphology", - "Neural tube defect", - "organ system subdivision", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", "forelimb bone", "Abnormal uvula morphology", - "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", "ventricular system of central nervous system", "Abnormal shape of the frontal region", "central nervous system", @@ -7666,6 +7648,14 @@ def autocomplete(): "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", @@ -7673,53 +7663,56 @@ def autocomplete(): "abnormal heart layer morphology", "Abnormal frontal bone morphology", "Abnormality of lower limb joint", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", + "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", - "cerebrospinal fluid", "abnormal nervous system", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "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", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal voluntary movement behavior", - "tissue", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", + "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", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "embryo", - "Absent testis", - "exocrine system", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", "phenotype by ontology source", "Abnormality of the male genitalia", "Abnormality of blood and blood-forming tissues", @@ -7729,150 +7722,57 @@ def autocomplete(): "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", - "anatomical system", - "upper digestive tract", - "dorsum", - "cranial nerve", - "testis", - "reproductive structure", - "abnormal ulna morphology", - "gonad", - "Decreased anatomical entity mass density", - "ganglion", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "iris", - "absent gamete", - "naris", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "internal male genitalia", - "digestive system", - "curved anatomical entity", - "decreased length of long bone", - "material entity", - "increased reflex", - "long bone", + "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", - "system process", - "male gamete", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "entire sense organ system", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "organ", - "pedal digit plus metapodial segment", - "occurrent", - "abnormal male reproductive organ morphology", - "pedal digit phalanx endochondral element", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "sensory system", - "absent sperm in the independent continuant", - "pelvic region element", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "reproduction", - "vessel", - "lateral structure", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "All", - "Abnormal bone structure", - "male reproductive organ", - "abnormal blood cell morphology", - "abnormal cell", - "disconnected anatomical group", - "upper limb segment", - "biological_process", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "delayed biological_process", - "systemic artery", - "organism substance", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal leukocyte morphology", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "neuron projection bundle", - "Abnormal spinal cord morphology", - "external male genitalia", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "independent continuant", - "anatomical line between pupils", - "abnormal number of anatomical enitites of type anatomical entity", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "hepatobiliary system", - "subdivision of skeletal system", - "Abnormal external genitalia", "pulmonary valve", "cellular organisms", "vertebral element", @@ -7880,54 +7780,144 @@ def autocomplete(): "bone of free limb or fin", "abnormal pedal digit morphology", "abnormal ear", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "abnormal gamete generation", - "Abnormality of the curvature of the cornea", + "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", - "limb", - "respiratory system", - "hip joint", + "abnormal peripheral nervous system morphology", + "bodily fluid", + "multi-tissue structure", "abnormal ear morphology", "abnormal number of anatomical enitites of type sperm", - "Abnormality of the cardiovascular system", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "dorsal region element", - "abnormal opening of the anatomical entity", + "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", - "multicellular anatomical structure", - "hematopoietic system", "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", - "internal genitalia", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal tracheobronchial tree morphology", "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Abnormal ear morphology", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "abnormal internal genitalia", - "ocular surface region", + "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", @@ -7938,80 +7928,24 @@ def autocomplete(): "anus atresia", "abnormal skull morphology", "Short long bone", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "neural tube development", - "external genitalia", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal limb bone morphology", - "tunica fibrosa of eyeball", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "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", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormal esophagus morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "process", + "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", - "Abnormality of the nose", - "developmental process involved in reproduction", "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", "aplasia or hypoplasia of anatomical entity", "limb long bone", "compound organ", "eye", - "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 anterior uvea morphology", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "cerebral cortex", - "tracheobronchial tree", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the peripheral nervous system", - "trunk region element", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", + "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", @@ -8019,53 +7953,129 @@ def autocomplete(): "Short palpebral fissure", "Abnormal skeletal morphology", "increased pigmentation", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal bone element mass density", - "main body axis", - "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", - "external soft tissue zone", - "digit plus metapodial segment", - "head", + "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", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal heart morphology", - "appendage girdle region", - "anatomical structure morphogenesis", - "abnormal limb bone", - "abnormal spinal cord morphology", - "Hypogonadism", - "arm bone", - "urethral opening", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "sense organ", + "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", - "abnormality of camera-type eye physiology", - "organism subdivision", "subdivision of digestive tract", "Abnormal pinna morphology", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "respiratory airway", - "abnormal secondary palate 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", @@ -8077,46 +8087,80 @@ def autocomplete(): "anterior chamber of eyeball", "abnormal development of anatomical entity", "increased biological_process", - "abnormal postcranial axial skeleton morphology", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "embryo development", - "brain gray matter", - "Abnormal tracheobronchial morphology", + "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", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", - "Short stature", - "Abnormality of the vertebral column", - "abnormal digestive system", + "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 morphology of the great vessels", - "pectoral complex", - "flat longitudinal arch of pes", + "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", @@ -8132,192 +8176,121 @@ def autocomplete(): "Aplasia/Hypoplasia of the testes", "left cardiac chamber", "Slanting of the palpebral fissure", - "Hip dislocation", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal long bone morphology", - "digitopodium bone", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "lower respiratory tract", - "visual system", - "abnormal camera-type eye morphology", + "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", "orbital region", - "multicellular organism development", - "Ventriculomegaly", - "Abnormal anterior eye segment morphology", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal bony vertebral centrum morphology", "abnormal alimentary part of gastrointestinal system", "Abnormal carotid artery morphology", "Astigmatism", - "circulatory organ", - "uvea", - "shape cornea", - "paired limb/fin segment", "pelvic girdle region", - "simple eye", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", "abnormal posterior nasal aperture morphology", "curvature anatomical entity", + "abnormal camera-type eye morphology", "abnormal orbital region", - "morphogenesis of an epithelium", - "epithelial tube morphogenesis", - "abnormal palpebral fissure", - "abnormal tube formation", - "circulatory system", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "multicellular organismal-level homeostasis", - "anterior segment of eyeball", - "chordate embryonic development", - "skeleton of digitopodium", - "embryonic epithelial tube formation", - "cranium", - "dermatocranium", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "neural tube closure", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "manus", - "abnormal nose morphology", - "embryonic tissue", - "ileum", - "Ventricular septal defect", - "small intestine", - "Abnormal jaw morphology", - "irregular bone", - "Meckel diverticulum", - "trunk bone", - "Azoospermia", - "Abnormal small intestine morphology", - "skeleton of lower jaw", - "abnormal small intestine", + "abnormal bony vertebral centrum morphology", + "simple eye", "anus", "Abnormal skull morphology", - "Abnormal anus morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "abnormal anus", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", "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", - "Weight loss", - "Decreased body weight", - "autopodial extension", "growth", "cardiac valve", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", + "Decreased body weight", + "autopodial extension", "abnormal forelimb zeugopod bone", "valve", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", "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", "gamete", "upper jaw region", - "Abnormal eyelid morphology", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "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", - "palpebral fissure", "Abnormal ocular adnexa morphology", - "Upslanted palpebral fissure", - "manual digit plus metapodial segment", - "Abnormal bone ossification", + "Abnormal eyelid morphology", "female reproductive organ", "ocular adnexa", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", - "opaque anatomical entity", + "palpebral fissure", + "abnormal lens of camera-type eye morphology", + "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "Cataract", - "abnormal lens of camera-type eye morphology", - "Atrial septal defect", - "drooping anatomical entity", + "opaque anatomical entity", "clavate digit", "shape eyelid", + "Atrial septal defect", + "drooping anatomical entity", "Ptosis", "Abnormal cornea morphology", "gland", - "abnormal artery morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal penis morphology", - "abnormal cranium morphology", "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", + "cranial skeletal system", + "nose", + "endocrine gland", + "sperm", + "internal naris", "Neoplasm by anatomical site", "olfactory system", "Abnormality of the nervous system", @@ -8326,81 +8299,66 @@ def autocomplete(): "bony vertebral centrum", "abnormal olfactory system morphology", "abnormal nose", - "sperm", - "internal naris", - "olfactory organ", - "cranial skeletal system", - "nose", - "endocrine gland", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", "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", - "excretory system", - "abnormal urethra", - "renal system", "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", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", - "Scoliosis", "Abnormal curvature of the vertebral column", - "tube closure", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", + "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", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Abnormal pulmonary valve morphology", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "telencephalon", - "Decreased head circumference", + "Eumetazoa", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", "abnormality of renal system physiology", "abnormal esophagus morphology", "abnormal size of anatomical entity", - "Leukopenia", - "abnormal hematopoietic system", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal number of anatomical enitites of type hematopoietic cell", "digit 1 plus metapodial segment", "synovial joint", "Abnormality of the anus", @@ -8409,26 +8367,32 @@ def autocomplete(): "abnormally decreased number of cell", "Functional abnormality of the inner ear", "pedal digit", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", + "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", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "Myelodysplasia", + "haemolymphatic fluid", + "abnormal hematopoietic system", + "delayed growth", "abnormal immune system morphology", "Hematological neoplasm", "Reduced bone mineral density", - "abnormal size of brain ventricle", - "nerve", - "Frontal bossing", - "zone of organ", - "increased size of the brain ventricle", + "Myelodysplasia", "Abnormality of vision", "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", @@ -8437,43 +8401,63 @@ def autocomplete(): "pedal digit bone", "cardiac atrium", "Abnormality of the integument", - "delayed growth", + "abnormal size of brain ventricle", + "zone of organ", + "increased size of the brain ventricle", + "liver", + "abnormal endocrine system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", "Abnormality of the endocrine system", "forelimb", "skeleton of pelvic complex", - "abnormal endocrine system", "abdominal segment of trunk", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "glandular system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", - "Decreased fertility", + "Abnormality of the liver", "behavior", "abdomen element", - "Abnormality of the liver", - "liver", + "glandular system", "abnormal hypothalamus-pituitary axis", - "increased anatomical entity length in independent continuant", - "Hypertelorism", + "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", + "Hypertelorism", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", "immaterial anatomical entity", "abnormal anatomical entity, curved", "anatomical line", - "non-material anatomical boundary", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", + "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", - "duodenum", - "Abnormality of the lower limb", + "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", @@ -8482,73 +8466,104 @@ def autocomplete(): "skeleton of pes", "abnormal incomplete closing of the interventricular septum", "Abnormal toe morphology", - "pes", - "abnormal phalanx morphology", - "Choanal atresia", - "acropodial skeleton", - "digitopodium region", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", "Duodenal stenosis", "Abnormal foot morphology", "Hypermelanotic macule", - "digit", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "abnormal digit morphology", - "shape forehead", - "posterior region of body", - "individual digit of digitopodial skeleton", - "phalanx endochondral element", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal digit", "leg", "abnormally decreased number of anatomical entity in the blood", "phalanx of pes", + "abnormal long bone morphology", + "digitopodium bone", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", "phalanx", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal autopod region morphology", - "nervous system cell part layer", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", "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", + "digitopodium region", "genitourinary system", "Limb undergrowth", - "Abnormality of the kidney", "abnormal kidney morphology", "skull", "femur", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormality of the kidney", "Decreased fertility in males", - "primary circulatory organ", - "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", + "prominent anatomical entity", + "abnormal roof of mouth morphology", "anatomical projection", + "abnormal midface morphology", + "mouth", + "Aplasia/Hypoplasia of the iris", + "Abnormal oral cavity morphology", "Abnormal aortic valve morphology", "midface", "abnormal soft palate morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", "Abnormal soft palate morphology", "shape palpebral fissure", "abnormal palatine uvula morphology", "anatomical cavity", - "abnormal midface morphology", - "palatine uvula", - "Abnormal erythrocyte morphology", - "soft palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal asymmetry of face", - "abnormal integument", + "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", + "Abnormal hip joint morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "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", "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", @@ -8559,78 +8574,66 @@ def autocomplete(): "abnormal cell morphology", "anatomical collection", "Macule", + "abnormal cornea, curved", + "pigmentation", "eyeball of camera-type eye", "abnormal upper urinary tract", "abnormal skin of body", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", "Abnormality of skin morphology", - "integument", "abnormality of kidney physiology", "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "increased biological_process in skin of body", - "abnormal cornea, curved", - "pigmentation", - "increased pigmentation in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal manus", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the hand", "skeleton of manus", + "Aplasia/Hypoplasia of fingers", "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "Aplasia/Hypoplasia of fingers", - "abnormal manus", "decreased pigmentation in skin of body", "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/hypoplasia involving the skeleton", - "abnormal manus morphology", "vascular system", "abnormal anterior segment of eyeball morphology", "aplasia or hypoplasia of skeleton", + "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", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", "appendage", "abnormally fused digit and digit", "Clinodactyly of the 5th finger", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", "biogenic amine secreting cell", "ossification", "Abnormality of bone mineral density", - "manual digit 5", "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", "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", - "deviation of digit towards the middle", - "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 manual digit", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "manual digit 5", "hypertrophic multicellular anatomical structure", "dermal skeletal element", "decreased length of anatomical entity in independent continuant", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "forelimb zeugopod bone hypoplasia", + "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", @@ -8638,2714 +8641,2711 @@ def autocomplete(): "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", "increased height of the secondary palate", "Tetralogy of Fallot", "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "articulation", - "skeletal joint dislocation", - "articular system", - "peripheral nervous system", - "abnormal hip joint morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", + "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", - "skin of body", + "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", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "abnormal hindlimb stylopod morphology", - "Abnormality of femur 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", - "stylopod", - "upper leg bone", + "Abnormality of femur morphology", "Abnormality of enteric ganglion morphology", - "Unusual infection", - "abnormal enteric ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "enteric ganglion", + "abnormal intestine morphology", "abnormal face morphology", "axial skeletal system", - "abnormal intestine morphology", "autonomic ganglion", - "parasympathetic nervous system", - "Abnormality of the autonomic nervous system", - "autonomic nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", + "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 vascular system morphology", - "cortex of cerebral lobe", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "abnormal roof of mouth morphology", - "prominent anatomical entity", + "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: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", "OMIM:613951"], "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:0000028", + "HP:0000957", + "HP:0000252", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0002860", + "HP:0001045", ], "has_phenotype_label": [ - "Chromosome breakage", "Hypoplasia of the radius", "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", - "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", + "Cafe-au-lait spot", + "Microcephaly", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Squamous cell carcinoma", + "Vitiligo", ], "has_phenotype_closure": [ - "NCBITaxon:33154", - "HP:0002242", - "UPHENO:0002714", - "UPHENO:0087006", - "NCBITaxon:2759", - "UBERON:5001463", - "UPHENO:0009382", - "UBERON:0008837", - "UPHENO:0002905", - "HP:0000077", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "UBERON:0019221", - "UPHENO:0081466", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0001015", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UPHENO:0008523", - "UPHENO:0006910", - "UBERON:0005451", - "UBERON:0001442", - "HP:0000001", - "UPHENO:0018390", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002101", - "UPHENO:0075195", - "UPHENO:0086132", - "HP:0006501", - "UBERON:0008785", - "GO:0010558", - "UPHENO:0002786", - "UBERON:0004710", - "UPHENO:0075893", - "UPHENO:0050108", - "HP:0000107", - "UBERON:0004708", - "UBERON:0000061", - "GO:1901360", + "HP:0002860", + "HP:0008069", + "HP:0000086", + "UBERON:0005156", "GO:0032504", - "UPHENO:0075159", - "HP:0040070", - "HP:0033127", - "UBERON:0001630", - "HP:0011425", - "UBERON:0012140", - "UBERON:0010363", - "GO:0044237", - "UBERON:0001474", + "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", - "UBERON:0002100", + "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", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UBERON:0013765", - "UBERON:0012139", - "UPHENO:0012541", - "UBERON:0002204", - "UPHENO:0020041", + "UBERON:0000019", + "UPHENO:0080382", + "HP:0001000", + "UBERON:0000020", + "UBERON:0002386", + "HP:0001877", + "HP:0012733", "UBERON:0003460", - "UPHENO:0001002", - "HP:0009601", - "UBERON:0003607", - "UBERON:0001423", - "HP:0009826", - "UBERON:0002529", + "UPHENO:0080087", "UBERON:0006717", "UPHENO:0001003", - "UPHENO:0076727", - "UPHENO:0084763", - "UPHENO:0020584", - "UBERON:0002091", - "UBERON:0010000", - "UPHENO:0020950", - "UPHENO:0002880", - "UBERON:0012475", - "HP:0009824", - "UPHENO:0088186", - "HP:0009815", - "HP:0006503", - "UBERON:0010758", - "UPHENO:0079872", - "GO:0019953", - "HP:0045060", - "UPHENO:0086633", - "UBERON:0005172", - "UPHENO:0002803", - "UBERON:0011584", - "UBERON:0000026", - "UBERON:0000075", - "UPHENO:0080352", + "HP:0100547", + "HP:0002011", "UBERON:0015061", + "UBERON:0003129", "UPHENO:0002833", + "UPHENO:0078606", + "HP:0006265", + "GO:0071704", + "UBERON:0011159", + "HP:0000153", "HP:0011842", "UPHENO:0075696", - "HP:0000027", - "UPHENO:0069294", - "UPHENO:0080126", - "UBERON:0001440", - "HP:0001167", - "HP:0040064", - "UBERON:0002513", - "GO:0031323", - "GO:0022414", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081091", - "UPHENO:0002378", - "UPHENO:0076710", + "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", - "UPHENO:0049990", - "UPHENO:0050121", - "HP:0011314", - "UPHENO:0012274", - "UBERON:0002113", - "PATO:0000001", - "GO:0005623", + "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", - "UPHENO:0049700", - "HP:0005927", - "UBERON:0003101", - "BFO:0000002", - "GO:0006996", - "UPHENO:0052778", - "HP:0011927", - "HP:0009821", - "UBERON:0005881", - "UBERON:0001062", - "UBERON:0010314", - "CL:0000000", - "HP:0002664", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0046540", - "UBERON:0000477", - "GO:0090304", - "UBERON:0012141", - "UPHENO:0087510", + "HP:0033127", + "HP:0007400", + "UBERON:0006048", "UBERON:5002544", - "HP:0003220", - "HP:0000118", - "UPHENO:0001005", + "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", + 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"UPHENO:0050021", - "GO:0071824", - "UBERON:0006058", - "GO:0048519", - "UPHENO:0085874", - "GO:0031324", - "UPHENO:0001001", - "HP:0002817", - "GO:0031327", - "HP:0002984", - "UBERON:0000062", - "UBERON:0001460", - "GO:0040007", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0017716", - "GO:0019222", - "UPHENO:0076783", - "GO:0043933", - "UPHENO:0002896", - "RO:0002577", - "HP:0010461", - "UBERON:5002389", - "BFO:0000003", - "PR:000050567", - "GO:0010556", - "UBERON:0007272", - "UPHENO:0088142", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0087802", + "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", + 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"UPHENO:0081433", - "UPHENO:0002442", - "UBERON:0002389", - "UPHENO:0046538", - "UPHENO:0087349", - "UBERON:0000468", - "HP:0005922", - "UPHENO:0026183", - "UPHENO:0084771", - "UBERON:0005178", - "UPHENO:0049701", - "UPHENO:0081313", - "GO:0048232", - "UPHENO:0086172", - "UBERON:0000059", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "GO:0006725", - "UPHENO:0087501", + "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", - "UPHENO:0052178", "HP:0040072", "UBERON:0010912", - "UPHENO:0026028", - "UPHENO:0063565", - "UPHENO:0080362", - "UPHENO:0086128", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:0003103", - "UBERON:0001009", - "UBERON:0000948", + 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"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:0084841", - "UBERON:0000383", - "UBERON:0006048", - "UBERON:0007271", - "HP:0009127", - "UBERON:0007269", - "UBERON:0004480", - "UBERON:0004481", - "HP:0001245", - "HP:0004378", - "UPHENO:0046505", - "UPHENO:0086644", + "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", - "HP:0011805", - "UPHENO:0086682", + "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", + 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"UPHENO:0084834", - "UBERON:0004054", - "UBERON:0008962", + "UBERON:0010323", + "UBERON:0000489", + "GO:0031052", + "UBERON:8450002", + "HP:0000085", "UBERON:0001463", + "UBERON:0008962", + "UBERON:0008907", "HP:0012210", - "UPHENO:0076779", - "UBERON:0010538", - "UPHENO:0001478", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "UBERON:0000079", - "UPHENO:0086201", - "UPHENO:0085873", - "CL:0000586", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0010944", - "HP:0001510", - "UPHENO:0086023", - "UPHENO:0080369", - "CL:0000408", - "GO:0007283", - "UBERON:0000481", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "CL:0000015", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0000991", - "HP:0011024", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", - "UPHENO:0080377", - "HP:0000032", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "UBERON:0000473", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "UPHENO:0046411", - "UPHENO:0046707", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009623", - "UBERON:0012361", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009484", - "UPHENO:0084829", - "UPHENO:0080351", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0003466", - "UPHENO:0069254", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", - "HP:0001507", - "UPHENO:0049874", - "UPHENO:0000543", - "UBERON:0013522", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "HP:0002589", - "UPHENO:0063629", - "HP:0011100", - "HP:0012732", - "NCBITaxon:1", - "UPHENO:0084124", - "UPHENO:0087346", - "HP:0009777", - "UBERON:0004921", - "UBERON:0000160", - "HP:0002034", - "UPHENO:0002725", - "HP:0012718", - "HP:0025023", + "GO:0006996", + "HP:0000079", + "GO:0048523", + "GO:0009889", + "HP:0003220", + "UPHENO:0050113", ], "has_phenotype_closure_label": [ - "rectum atresia", - "abnormal rectum", - "Abnormal intestine morphology", - "lower digestive tract", - "intestine", - "rectum", - "internal anal region", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "subdivision of tube", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Metazoa", - "Rectal atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Chronic kidney disease", - "Abnormal renal physiology", - "Renal insufficiency", - "Abnormality of the urinary system physiology", - "Intestinal atresia", - "non-functional kidney", - "growth", - "decreased height of the anatomical entity", - "digestive system element", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "Renal cyst", - "deviation of manual digit", - "intestine atresia", - "Proximal placement of thumb", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "Short finger", - "developmental process", - "reproductive process", - "abnormally localised testis", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "developmental process involved in reproduction", - "abnormally localised anatomical entity", - "abnormal reproductive system", - "absent gamete", - "sperm", - "male organism", - "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", + "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", - "internal male genitalia", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type sperm", "Azoospermia", - "Abnormality of the male genitalia", + "male gamete generation", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", "male germ cell", - "abnormality of multicellular organism height", "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "organism substance", + "Abnormal testis morphology", "semen", - "abnormal male reproductive system", - "male reproductive system", "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "decreased developmental process", - "reproductive organ", - "spermatogenesis", - "gamete generation", + "Abnormality of reproductive system physiology", "absent anatomical entity in the semen", - "abnormal gamete", - "abnormal number of anatomical enitites of type cell", + "Abnormal external genitalia", + "reproductive process", + "abnormally localised anatomical entity in independent continuant", + "abnormal internal genitalia", "external genitalia", "internal genitalia", "gonad", - "Abnormality of the genital system", - "abnormal internal genitalia", + "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", - "Abnormality of reproductive system physiology", "gamete", - "obsolete multicellular organism reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "changed biological_process rate", - "absent germ cell", - "abnormal renal system morphology", - "Abnormality of prenatal development or birth", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "kidney", + "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", - "abnormal genitourinary system", - "increased size of the renal pelvis", - "late embryo", - "abnormal renal system", - "Abnormal renal morphology", - "embryo", - "renal pelvis", - "Abnormality of the kidney", - "renal pelvis/ureter", - "disconnected anatomical group", - "abdominal segment of trunk", - "abdomen", - "decreased length of digit", - "anatomical cluster", - "Abnormality of the upper urinary tract", - "renal system", - "Abnormal fetal genitourinary system morphology", - "organ part", - "increased size of the anatomical entity in independent continuant", - "Abnormal fetal morphology", - "Abnormal renal pelvis morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "abnormal renal pelvis", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "abnormal closing of the anatomical entity", - "abnormal digestive system", - "deviation of manual digit 1", - "digestive tract", + "developmental process involved in reproduction", "multicellular organismal reproductive process", - "anatomical conduit", - "anus", - "abnormal digestive system morphology", - "Neoplasm by anatomical site", - "digestive system", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "musculature of upper limb", - "haploid cell", - "appendage musculature", - "musculature of body", - "Abnormality of the musculature of the upper limbs", - "cavitated compound organ", - "abnormal musculature of upper limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature of the hand", - "germ line cell", - "thenar eminence hypoplasia", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "abnormal musculature of limb", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "musculature of manus", - "abnormal musculature", - "abnormal heart morphology", - "Cryptorchidism", - "heart plus pericardium", - "Abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Fetal ultrasound soft marker", - "excretory system", - "circulatory system", - "body proper", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "limb endochondral element", - "subdivision of digestive tract", - "delayed biological_process", - "Short forearm", - "increased size of the anatomical entity", - "abnormal limb bone", - "limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal appendicular skeleton morphology", - "endochondral element", - "pectoral appendage", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "abnormal long bone morphology", - "forelimb zeugopod bone hypoplasia", - "anatomical entity hypoplasia in independent continuant", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "Abnormality of the musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "abnormal testis morphology", - "forelimb zeugopod", - "male reproductive organ", - "cellular component organization or biogenesis", - "multicellular anatomical structure", - "forelimb endochondral element", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "musculature of limb", - "negative regulation of biosynthetic process", - "decreased length of forelimb zeugopod bone", - "orifice", + "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", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "musculature of pectoral complex", - "thoracic cavity element", - "multicellular organism", - "absent anatomical entity in the multicellular organism", + "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", - "cellular organisms", - "Abnormality of the musculature", - "thoracic segment of trunk", - "abnormal digit", - "programmed DNA elimination", - "digit", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", "metabolic process", - "multi-limb segment region", - "abnormal cellular 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 upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "Abnormal internal genitalia", - "regulation of cellular process", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "abnormal growth", - "independent continuant", - "abnormal intestine morphology", - "aplastic manual digit 1", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "anal region", - "paired limb/fin skeleton", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "Small thenar eminence", + "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", - "organelle organization", - "Abnormal anus morphology", - "protein-DNA complex organization", - "arm", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal manus", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", - "regulation of macromolecule metabolic process", - "acropodium region", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "Deviation of finger", - "negative regulation of metabolic process", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Aplasia/hypoplasia involving bones of the upper limbs", - "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", + "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", - "Abnormal forearm bone morphology", - "Abnormality of the skeletal system", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "continuant", - "Abnormality of limbs", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "material entity", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "upper limb segment", - "appendicular skeleton", - "subdivision of organism along main body axis", - "abnormal biological_process", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "Abnormal long bone morphology", - "skeleton of limb", - "muscle structure", - "material anatomical entity", - "external male genitalia", - "chromatin organization", - "pectoral appendage musculature", - "abnormal metabolic process", - "abnormal forelimb zeugopod morphology", - "cellular metabolic process", - "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", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal chromatin organization", - "Chromosome breakage", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "bone element", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", + "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", - "decreased qualitatively reproductive process", - "genitourinary system", - "forelimb skeleton", - "Abnormal cellular physiology", - "organic substance metabolic process", - "obsolete nitrogen compound metabolic process", - "abnormal upper urinary tract", - "musculoskeletal system", - "delayed growth", - "abnormal cardiovascular system", - "skeletal system", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased length of long bone", - "primary metabolic process", - "skeletal element", - "zeugopod", - "autopodial extension", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "process", - "nucleic acid metabolic process", - "aplasia or hypoplasia of skeleton", - "forelimb", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal limb bone morphology", - "radius endochondral element", - "Abnormality of digestive system morphology", - "thenar eminence", - "manus", "abnormal limb", - "compound organ", - "zeugopodial skeleton", - "obsolete cell", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal radius bone morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of the anus", - "organ system subdivision", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", + "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", - "palmar/plantar part of autopod", - "external soft tissue zone", - "Abnormality of limb bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "occurrent", - "organ", - "heart", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "radius bone", - "deviation of anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "Aplasia/hypoplasia involving forearm bones", - "forelimb long bone", - "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "Abnormality of cardiovascular system morphology", + "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", - "abnormal bone of pectoral complex morphology", - "limb", - "cell", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Upper limb undergrowth", - "limb skeleton subdivision", - "trunk region element", - "pectoral complex", - "Opisthokonta", - "paired limb/fin segment", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal skeletal system", - "forelimb zeugopod bone", + "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", - "Aplasia/Hypoplasia of the radius", + "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", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "anatomical system", - "digit 1", - "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", - "skeleton of manus", - "cardiovascular system", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "agenesis of anatomical entity", - "Abnormality of the hand", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "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", - "cellular process", - "Abnormal digit morphology", - "absent anatomical entity", - "Short thumb", - "abnormal manual digit 1 morphology", - "digit 1 plus metapodial segment", - "abnormal digit 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 male reproductive organ morphology", - "autopodial skeleton", - "Finger aplasia", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "pectoral appendage skeleton", - "abnormal manus morphology", - "primary circulatory organ", - "digit 1 or 5", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "main body axis", - ], - "has_phenotype_count": 15, - "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:0002860", - "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:0001045", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", + "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", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", + "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", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", - ], - "has_phenotype_closure": [ - "HP:0000086", - "GO:0022414", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0049367", - "UPHENO:0002598", - "UBERON:0004054", - "UBERON:0000473", - "UBERON:0001968", - "HP:0000078", - "UPHENO:0078452", - "GO:0048232", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0049701", - "GO:0032504", - "UPHENO:0086198", - "HP:0000035", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "UBERON:0004176", - "GO:0007283", - "GO:0007276", - "UPHENO:0087547", - "CL:0000408", - "UBERON:0003101", - "UPHENO:0050101", - "UPHENO:0002378", - "UPHENO:0049985", - "UPHENO:0085194", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "HP:0012243", - "HP:0000811", - "GO:0000003", - "UBERON:0005156", - "UPHENO:0003055", - "UPHENO:0049970", - "CL:0000586", - "UPHENO:0085873", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0087802", - "GO:0050954", - "HP:0000598", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005433", - "UPHENO:0052178", - "UPHENO:0050625", - "UPHENO:0005518", - "UPHENO:0052970", - "UBERON:0002105", - "HP:0012874", - "UPHENO:0002332", - "UPHENO:0081424", - "UPHENO:0081423", - "UPHENO:0080351", - "UPHENO:0075159", - "GO:0010556", - "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0065007", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "GO:0009892", - "GO:0090304", - "GO:0006996", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", - "GO:0010558", - "GO:0006325", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", - "GO:0050789", - "GO:0044238", - "UBERON:0011138", - "UBERON:0002513", - "GO:0048523", - "HP:0000079", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0002536", - "HP:0006501", - "HP:0000152", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0054970", - "UBERON:0001016", - "UPHENO:0020888", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0008523", - "UPHENO:0087518", - "GO:0043473", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0082682", - "NCBITaxon:1", - "HP:0001034", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "NCBITaxon:2759", - "UBERON:5001463", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "HP:0008069", - "UBERON:0019221", - "UBERON:0000467", - "UPHENO:0053588", - "UPHENO:0002240", - "UBERON:0004765", - "UBERON:0004053", - "UPHENO:0086005", - "UPHENO:0026183", - "HP:0000234", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0006910", - "HP:0031704", - "GO:0006807", - "UBERON:0005451", - "UPHENO:0080377", - "UBERON:0011137", - "UBERON:0004111", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0012141", - "UBERON:0002416", - "UBERON:0012128", - "HP:0011297", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "UBERON:0000465", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", - "UPHENO:0021517", - "HP:0000001", - "UPHENO:0087950", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "BFO:0000004", - "UPHENO:0075195", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0080126", - "HP:0000957", - "UBERON:0000481", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "UBERON:0003113", - "HP:0001574", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000075", - "HP:0009815", - "HP:0009601", - "UBERON:0003607", - "HP:0045060", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0081313", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0087973", - "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "UBERON:0006717", - "UPHENO:0001003", - "UBERON:0008785", - "HP:0009821", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0013765", - "UPHENO:0080382", - "HP:0001000", - "HP:0002817", - "UPHENO:0001001", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0010740", - "UPHENO:0088170", - "UPHENO:0081792", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "UBERON:0010708", - "UBERON:0000019", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "UBERON:0002386", - "UPHENO:0087472", - "UBERON:0000020", - "UBERON:0011249", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000365", - "GO:0009987", - "UPHENO:0081204", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "UBERON:0007272", - "UPHENO:0031839", - "UBERON:0000991", - "UBERON:0005944", - "UBERON:0034925", - "UPHENO:0004459", - "HP:0001903", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", - "UBERON:0001442", - "UPHENO:0074584", - "BFO:0000040", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0081790", - "HP:0100547", - "UPHENO:0084763", - "UBERON:0000062", - "UPHENO:0076703", - "UPHENO:0086589", - "UPHENO:0076791", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - "UPHENO:0084457", - "GO:0043933", - "UPHENO:0002896", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000153", - "UPHENO:0049873", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0085874", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0003811", - "UBERON:0002102", - "BFO:0000002", - "HP:0012639", - "UPHENO:0086633", - "UBERON:0011156", - "UBERON:0012140", - "HP:0000025", - "HP:0001172", - "UBERON:0011676", - "HP:0002973", - "CL:0001035", - "UPHENO:0002803", - "UBERON:0005172", - "UBERON:0012139", - "UPHENO:0012541", - "UPHENO:0003085", - "HP:0000153", - "HP:0007400", - "HP:0033127", - "HP:0000812", - "HP:0000240", - "UPHENO:0086635", - "HP:0040072", - "UBERON:0010912", - "CL:0000225", - "UBERON:0011582", - "UPHENO:0046707", - "UPHENO:0074575", - "HP:0002011", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0002833", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0002113", - "HP:0011314", - "HP:0005773", - "HP:0000366", - "UPHENO:0001002", - "HP:0012733", - "UPHENO:0080087", - "UBERON:0003460", - "UBERON:0000026", - "UPHENO:0021561", - "UBERON:0003606", - "UBERON:0002405", - "BFO:0000001", - "UPHENO:0002635", - "HP:0000080", - "UBERON:0010712", - "UPHENO:0046540", - "UPHENO:0074589", - "UPHENO:0076727", - "UBERON:0001423", - "UBERON:0004456", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001460", - "GO:0040007", - "HP:0009826", - "UBERON:0002529", - "UBERON:0002091", - "UPHENO:0081314", - "UPHENO:0020584", - "UPHENO:0080187", - "UBERON:0013702", - "GO:0003008", - "UBERON:0010538", - "HP:0009824", - "HP:0000252", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "UBERON:0010000", - "UPHENO:0054577", - "UBERON:0002390", - "UPHENO:0082444", - "UBERON:0002204", - "UBERON:0002495", - "UBERON:0003278", - "UPHENO:0002751", - "UPHENO:0079872", - "UBERON:0010363", - "HP:0002977", - "UPHENO:0088166", - "GO:0044237", - "UBERON:0001440", - "UBERON:0004121", - "HP:0000924", - "BFO:0000141", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UPHENO:0087006", - "UPHENO:0085144", - "GO:0007600", - "UPHENO:0041075", - "HP:0001045", - "HP:0040070", - "UPHENO:0081755", - "UPHENO:0075198", - "UBERON:0002471", - "HP:0011961", - "GO:0043170", - "HP:0010938", - "HP:0008050", - "CL:0000151", - "UPHENO:0069254", - "UBERON:0003466", - "UPHENO:0046505", - "UPHENO:0041465", - "UBERON:0002090", - "UPHENO:0083646", - "UBERON:0001017", - "UBERON:0000047", - "HP:0025461", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0004742", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "HP:0002664", - "HP:0006265", - "UPHENO:0078606", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0081788", - "HP:0011793", - "UPHENO:0086023", - "HP:0001510", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001456", - "HP:0005105", - "HP:0001507", - "UPHENO:0049874", - "UPHENO:0000543", - "HP:0012745", - "HP:0000492", - "UPHENO:0075220", - "UPHENO:0086595", - "UBERON:0034921", - "UBERON:0011584", - "UPHENO:0084987", - "HP:0006503", - "UBERON:0002104", - "UBERON:0003462", - "HP:0000315", - "UPHENO:0085189", - "UPHENO:0046753", - "UBERON:0003103", - "UPHENO:0080200", - "HP:0200007", - "HP:0000125", - "UPHENO:0002910", - "HP:0032039", - "HP:0030669", - "UBERON:0000161", - "UPHENO:0084761", - "HP:0001872", - "UBERON:0001819", - "UPHENO:0034770", - "UBERON:0034923", - "UPHENO:0076761", - "HP:0010461", - "UPHENO:0054567", - "HP:0045025", - "UPHENO:0041821", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "UBERON:0001690", - "UPHENO:0086173", - "UPHENO:0077426", - "UPHENO:0085984", - "HP:0002715", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "HP:0031816", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UBERON:0019231", - "UBERON:0010364", - "UBERON:0013522", - "UBERON:0001710", - "HP:0020047", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0000479", - "UPHENO:0079876", - "UBERON:0001007", - "CL:0000000", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UBERON:0000079", - "HP:0001871", - "HP:0012145", - "UPHENO:0075997", - "UBERON:0002371", - "CL:0000458", - "UPHENO:0087089", - "CL:0000764", - "UPHENO:0085070", - "HP:0025354", - "CL:0000255", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0011159", - "GO:0071704", - "CL:0002242", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0063722", - "HP:0001881", - "GO:0016043", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0032502", - "UPHENO:0002832", - "HP:0032251", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "GO:0071840", - "HP:0002818", - "HP:0002813", - "HP:0000277", - "UPHENO:0046411", - "HP:0009122", - "HP:0000347", - "HP:0025031", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0004088", - "UBERON:0000025", - "UBERON:0012360", - "UBERON:0011158", - "UBERON:0010313", - "CL:0000015", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0011595", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UPHENO:0076803", - "UPHENO:0081091", - "UPHENO:0080165", - "HP:0009118", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UBERON:0003135", - "HP:0009116", - "UBERON:0003457", - "UPHENO:0081786", - "UPHENO:0076692", - "UPHENO:0069249", - "HP:0034261", - "GO:0050877", - "HP:0011927", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "GO:0031326", - "UPHENO:0065599", - "UBERON:0000466", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UPHENO:0084727", - "UPHENO:0076805", - "UPHENO:0088168", - "UPHENO:0084715", - "UPHENO:0087430", - "UBERON:0002268", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0002470", - "UBERON:0007827", - "CL:0000300", - "HP:0012130", - "UBERON:0001008", - "UPHENO:0041629", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "HP:0000085", - "UBERON:8450002", - "UBERON:0005173", - "UPHENO:0041226", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0008962", - "UBERON:0001463", - "UBERON:0008907", - "HP:0012210", - "UPHENO:0087427", - "UPHENO:0050113", - "GO:0008152", - ], - "has_phenotype_closure_label": [ - "Pelvic kidney", - "Ectopic kidney", - "reproductive process", - "Abnormal testis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male gamete generation", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "decreased developmental process", - "absent gamete", - "sperm", - "reproductive structure", - "decreased qualitatively developmental process", - "decreased spermatogenesis", - "external male genitalia", - "testis", - "Abnormal reproductive system morphology", - "Azoospermia", - "male germ cell", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "organism substance", - "semen", - "reproduction", - "abnormal testis morphology", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "abnormal location of anatomical entity", - "spermatogenesis", - "absent anatomical entity in the semen", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "abnormal gamete", - "Abnormality of reproductive system physiology", - "haploid cell", - "reproductive system", - "Cryptorchidism", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "abnormal internal genitalia", - "germ cell", - "gamete", - "abnormality of reproductive system physiology", - "absent germ cell", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal developmental process", - "sensory perception", - "decreased sensory perception of sound", - "abnormal sensory perception", - "Hearing abnormality", - "abnormality of anatomical entity physiology", - "ear", - "multicellular organismal process", - "sensory perception of sound", - "system process", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "cellular process", - "abnormal DNA metabolic process", - "Abnormality of head or neck", - "craniocervical region", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "regional part of nervous system", - "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", - "main body axis", - "abnormal kidney morphology", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "axial skeleton plus cranial skeleton", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "sensory system", - "abnormal nervous system", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "pigmentation", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormality of skin pigmentation", - "skeleton of limb", - "neural crest-derived structure", - "aplasia or hypoplasia of skull", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal integument", - "biological_process", - "obsolete multicellular organism reproduction", - "cellular organisms", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal myeloid cell morphology", - "abnormal manus morphology", - "Neoplasm", - "digit", - "Hyperpigmentation of the skin", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "gamete generation", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal immune system morphology", - "Absent thumb", - "abnormal autopod region morphology", - "agenesis of anatomical entity", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "skeleton of manus", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", - "organism", - "Neoplasm of the skin", - "anatomical system", - "segment of autopod", - "organic cyclic compound metabolic process", - "aplastic manual digit 1", - "dentary", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal size of anatomical entity", - "material anatomical entity", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "facial skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "multi-limb segment region", - "endochondral element", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "skeletal element", - "zeugopod", - "body proper", - "central nervous system", - "Abnormality of limb bone", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased size of the anatomical entity", - "limb", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "trunk region element", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "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", - "quality", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "primary metabolic process", - "Abnormality of the skin", - "forelimb endochondral element", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "abnormal craniocervical region morphology", - "continuant", - "lateral structure", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "compound organ", - "eye", - "skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "forelimb zeugopod", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "appendage", - "root", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "subdivision of organism along appendicular axis", - "skull", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "absent manual digit", - "abnormal radius bone morphology", - "organ system subdivision", - "decreased length of palpebral fissure", - "abnormal blood cell", - "erythrocyte", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "system", - "bone marrow cell", - "appendicular skeletal system", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "Aplasia/hypoplasia involving the skeleton", - "decreased qualitatively biological_process", - "anatomical entity", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "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", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "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", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "organism subdivision", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "skeletal system", - "motile cell", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", + "Abnormality of the genitourinary system", + "blood cell", + "head bone", "subdivision of head", "appendage girdle complex", "macromolecule metabolic process", - "manual digit 1", - "regulation of metabolic process", - "autopodial extension", - "abnormal face", + "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:0013248", + "category": "biolink:Disease", + "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 RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "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", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0040012", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "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", + "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", + "GO:0010558", + "UPHENO:0002786", + "UBERON:0000062", + "HP:0006496", + "HP:0009778", + "HP:0005927", + "UPHENO:0049700", + "UBERON:0003101", + "UPHENO:0088186", + "HP:0009815", + "UBERON:0004708", + "UBERON:0006717", + "UPHENO:0001003", + "HP:0006503", + "UPHENO:0076724", + "UPHENO:0081451", + "HP:0000027", + "UPHENO:0069294", + "UPHENO:0080126", + "UPHENO:0081204", + "UBERON:0002102", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0011582", + "UPHENO:0052178", + "UPHENO:0076727", + "UPHENO:0084763", + "HP:0001167", + "HP:0040064", + "UPHENO:0020041", + "UBERON:0002204", + "UBERON:0001434", + "UPHENO:0081341", + "UPHENO:0046540", + "UBERON:0000477", + "GO:0090304", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0075893", + "UBERON:0004710", + "HP:0009824", + "UBERON:0010363", + "GO:0044237", + "UBERON:0001474", + "GO:0006259", + "UBERON:0002100", + "UPHENO:0082875", + "UPHENO:0084766", + "GO:0046483", + "UBERON:0015212", + "UPHENO:0086956", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "UBERON:0003460", + "UPHENO:0001002", + "HP:0009601", + "UBERON:0003607", + "UBERON:0001423", + "UPHENO:0068971", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "HP:0045060", + "UPHENO:0086633", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "UPHENO:0020584", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0000075", + "UPHENO:0080352", + "UBERON:0010000", + "UPHENO:0020950", + "UBERON:0010708", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0081091", + "UPHENO:0002378", + "UPHENO:0076710", + "HP:0002242", + "UPHENO:0079872", + "GO:0019953", + "BFO:0000002", + "UPHENO:0002536", + "UPHENO:0076692", + "UBERON:0011249", + "PATO:0000001", + "UPHENO:0063565", + "UPHENO:0026028", + "UBERON:0000475", + "UPHENO:0053644", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "UPHENO:0080325", + "UPHENO:0002642", + "GO:0009890", + "HP:0011842", + "UPHENO:0075696", + "HP:0033127", + "UBERON:0001630", + "HP:0011425", + "GO:0006139", + "HP:0002664", + "UPHENO:0076723", + "NCBITaxon:131567", + "UPHENO:0049748", + "GO:0009987", + "UBERON:0010703", + "GO:0044238", + "HP:0002817", + "UPHENO:0001001", + "UPHENO:0087547", + "HP:0011297", + "GO:0071704", + "GO:0009889", + "HP:0030680", + "GO:0048232", + "UPHENO:0050113", + "GO:0060255", + "GO:0034641", + "UBERON:0002529", + "HP:0009826", + "UBERON:0003135", + "GO:0031323", + "UBERON:0002513", + "GO:0022414", + "UPHENO:0084761", + "UPHENO:0002649", + "UPHENO:0031839", + "CL:0000000", + "GO:0031324", + "UPHENO:0087510", + "UBERON:5002544", + "HP:0003220", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0012541", + "GO:0031052", + "UBERON:0000489", + "HP:0000079", + "GO:0048523", + "UBERON:0010741", + "HP:0002023", + "HP:0006265", + "UPHENO:0078606", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0080099", + "GO:0006996", + "UBERON:0005881", + "UBERON:0001062", + "UBERON:0010314", + "HP:0011961", + "GO:0043170", + "UBERON:0003133", + "UBERON:5006048", + "GO:0005623", + "UPHENO:0076703", + "UBERON:0002386", + "UBERON:0015021", + "UPHENO:0086635", + "HP:0000812", + "UBERON:0000061", + "GO:1901360", + "GO:0032504", + "BFO:0000004", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0000465", + "GO:0008152", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0019231", + "GO:0071824", + "BFO:0000001", + "UPHENO:0002371", + "GO:0065007", + "HP:0003026", + "CL:0000019", + "HP:0006501", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0013765", + "HP:0000118", + "UBERON:0006058", + "UPHENO:0085874", + "GO:0048519", + "HP:0011314", + "UPHENO:0075195", + "UPHENO:0086132", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0002708", + "HP:0040068", + "GO:0050789", + "GO:0032501", + "UBERON:0013701", + "UPHENO:0050116", + "UPHENO:0050021", + "UPHENO:0001005", + "GO:0008150", + "UBERON:0006866", + "BFO:0000040", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0017716", + "GO:0019222", + "UPHENO:0076783", + "UBERON:0000153", + "UPHENO:0049873", + "UPHENO:0002647", + "GO:0010629", + "HP:0001626", + "HP:0040012", + "UBERON:0010707", + "UBERON:0004120", + "HP:0025354", + "UPHENO:0050121", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", + "CL:0000300", + "HP:0000083", + "UPHENO:0005597", + "UBERON:0002428", + "UPHENO:0012274", + "UBERON:0002113", + "UPHENO:0049990", + "RO:0002577", + "HP:0010461", + "UBERON:5002389", + "BFO:0000003", + "PR:000050567", + "GO:0010556", + "UBERON:0007272", + "UPHENO:0088142", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0087802", + "UBERON:0010912", + "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", + "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", + "UBERON:0011676", + "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", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "UPHENO:0086198", + "UPHENO:0049367", + "UPHENO:0085873", + "UBERON:0000473", + "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", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0025023", + "HP:0002034", + ], + "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", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "growth", + "decreased size of the multicellular organism", + "Renal cyst", + "intestine atresia", + "Proximal placement of thumb", + "deviation of manual digit", + "Short digit", "Eumetazoa", - "negative regulation of cellular metabolic process", "Eukaryota", "decreased length of manual digit", - "abnormal central nervous system morphology", + "decreased length of manual digit 1", + "Short finger", + "Abnormality of the genital system", "abnormal reproductive system", - "abnormal kidney", - "abnormal forebrain morphology", - "abnormal nervous system morphology", - "abnormal cell morphology", - "telencephalon", - "forebrain", - "blood cell", - "head bone", - "Abnormality of the genitourinary system", - "cranial skeletal system", - "postcranial axial skeleton", - "Decreased head circumference", - "pectoral complex", - "dermatocranium", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "mesoderm-derived structure", - "Squamous cell carcinoma", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", + "internal male genitalia", + "testis", + "abnormally localised testis", + "Azoospermia", + "Abnormality of the male genitalia", + "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", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "multi organ part structure", - "hemolymphoid system", + "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", - "Abnormality of the orbital region", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "orbital region", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal size of palpebral fissure", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "abnormal bone of pectoral complex morphology", + "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", + "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", + "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", + "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", + "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", + "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", - "ocular adnexa", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Abnormality of the face", + "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 ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "abnormal hematopoietic system", - "Abnormality of the immune system", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "skin of body", + "Abnormal thumb morphology", "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "root", + "appendage", + "Abnormal internal genitalia", + "regulation of cellular process", + "abnormal growth", + "independent continuant", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "abnormal intestine morphology", + "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", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", + "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", + "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", - "Aplasia/hypoplasia affecting bones of the axial skeleton", + "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 qualitatively biological_process", + "abnormal cellular component organization", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "pectoral appendage", + "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", + "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", + "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", - "bone element hypoplasia in face", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "subdivision of tube", - "aplasia or hypoplasia of mandible", + "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", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal digit", - "lower jaw region", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", + "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", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "abnormal male reproductive system", - "abnormal mouth morphology", - "mouth", - "abnormal mandible morphology", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "Abnormality of body height", - "tube", - "Abnormality of the genital system", - "intramembranous bone", + "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", - "bone of craniocervical region", - "anatomical entity hypoplasia in face", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", + "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", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", + "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", "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "Short finger", - "Short digit", - "anterior region of body", - "decreased length of manual digit 1", - "Abnormal nasal tip morphology", - "aplastic anatomical entity", - "Bulbous nose", - "Abnormal external nose morphology", - "entire sense organ system", - "abnormal external nose morphology", - "nose", - "immaterial anatomical entity", - "Abnormality of the nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "anatomical point", - "olfactory organ", - "abnormal erythrocyte morphology", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "anatomical system", + "anal region", + "paired limb/fin skeleton", + "compound organ", + "obsolete cell", + "zeugopodial skeleton", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal gamete generation", "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "excretory system", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "Abnormality of the kidney", - "Horseshoe kidney", - "developmental process", - "negative regulation of metabolic process", + "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", - "shape kidney", - "abnormal renal system", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", + "manual digit 1 plus metapodial segment", + "cardiovascular system", "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal chromatin organization", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "cellular component organization", + "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", + "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", ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "highlight": None, "score": None, }, @@ -11377,11 +11377,10 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0001942", "HP:0003648", "HP:0001324", - "HP:0003155", + "HP:0002749", "HP:0002148", "HP:0000124", "HP:0003109", @@ -11389,17 +11388,17 @@ def autocomplete(): "HP:0002748", "HP:0034359", "HP:0003076", + "HP:0003155", "HP:0003355", "HP:0004322", "HP:0003126", "HP:0000083", ], "has_phenotype_label": [ - "Osteomalacia", "Metabolic acidosis", "Lacticaciduria", "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", + "Osteomalacia", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", @@ -11407,219 +11406,178 @@ def autocomplete(): "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": [ - "UPHENO:0068565", "CHEBI:37622", - "CHEBI:15841", - "CHEBI:32988", - "CHEBI:16541", "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:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - "UPHENO:0000541", "UPHENO:0075159", - "UPHENO:0068169", + "UPHENO:0051670", "CHEBI:35605", - "UPHENO:0068495", - "CHEBI:33575", + "CHEBI:36587", + "UPHENO:0068538", + "UPHENO:0068040", + "UPHENO:0068169", + "HP:0003355", "CHEBI:24651", + "CHEBI:33575", + "UPHENO:0068495", "UPHENO:0046286", - "HP:0003355", - "CHEBI:36587", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068091", "HP:0031980", - "UPHENO:0051670", "CHEBI:33709", - "UPHENO:0068040", - "CHEBI:33608", - "UPHENO:0068144", - "UPHENO:0068538", + "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", "UPHENO:0080658", "UPHENO:0000543", "HP:0003076", "HP:0000002", "HP:0033354", "UPHENO:0068054", + "CHEBI:33285", + "CHEBI:50860", "CHEBI:36962", "CHEBI:25806", - "CHEBI:17234", - "CHEBI:35381", "CHEBI:18133", - "HP:0034359", - "UPHENO:0051191", - "CHEBI:33917", - "HP:0011038", - "GO:0003008", - "GO:0003014", - "UPHENO:0051280", - "HP:0011036", - "CHEBI:33504", - "CHEBI:33694", - "UPHENO:0077821", - "CHEBI:36357", - "PR:000018263", - "CHEBI:33675", - "HP:0004379", - "HP:0000079", - "CHEBI:35352", - "HP:0100529", - "UPHENO:0068971", - "CHEBI:33695", + "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", - "CHEBI:50860", - "HP:0012379", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", - "PR:000064867", - "UPHENO:0046362", - "UPHENO:0081777", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", + "HP:0000118", + "UBERON:0001434", + "UBERON:0002204", + "HP:0011849", + "UPHENO:0048707", + "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", + "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", - "GO:0070293", - "UBERON:0004111", - "UPHENO:0068511", - "BFO:0000002", - "CHEBI:60004", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0082542", - "HP:0000119", - "UPHENO:0002964", - "UBERON:0001088", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0000179", - "UPHENO:0046284", - "HP:0012072", - "HP:0032943", - "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0080555", - "UPHENO:0024906", - "HP:0001939", "UPHENO:0001002", "CHEBI:60242", - "BFO:0000003", - "CHEBI:59999", - "PR:000050567", - "UPHENO:0082835", - "CHEBI:64709", - "UPHENO:0079536", - "UBERON:0003914", - "HP:0001942", - "UBERON:0011216", - "UBERON:0001434", - "UBERON:0005090", - "UBERON:0000468", - "UPHENO:0034253", - "HP:0000093", - "GO:0055062", - "UBERON:0002417", - "CHEBI:22314", - "GO:0008152", "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "CHEBI:15693", - "UPHENO:0081544", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "HP:0000083", - "HP:0011804", - "GO:0032501", - "GO:0050801", - "UBERON:0001015", - "CHEBI:37247", - "UPHENO:0051640", - "UPHENO:0081546", - "CHEBI:51143", - "HP:0004360", - "UPHENO:0034391", - "HP:0000118", - "UPHENO:0068094", - "UBERON:0000178", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011849", - "UPHENO:0048707", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UPHENO:0002320", - "UPHENO:0084653", - "UPHENO:0001001", - "UBERON:0000062", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0001474", - "UPHENO:0082875", - "UBERON:0002100", - "CHEBI:28358", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "UBERON:0002204", - "UPHENO:0082539", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082538", - "UBERON:0000489", - "BFO:0000001", - "CHEBI:24833", - "UBERON:0001008", - "UPHENO:0082834", - "BFO:0000040", - "HP:0004349", - "GO:0042592", + "GO:0008152", + "UPHENO:0046284", "HP:0004348", - "HP:0002749", - "CHEBI:23906", - "HP:0003011", - "HP:0012337", - "UBERON:0006314", + "HP:0012072", "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0068089", - "BFO:0000015", + "UBERON:0006314", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0068511", + "BFO:0000002", + "HP:0001942", + "CHEBI:33238", + "UPHENO:0049628", "UBERON:0000174", "HP:0000924", - "HP:0003330", - "UPHENO:0078554", - "UPHENO:0002332", - "CHEBI:33259", - "HP:0011277", - "UPHENO:0046283", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33285", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", "UPHENO:0001003", "HP:0003155", "UPHENO:0080556", @@ -11627,493 +11585,535 @@ def autocomplete(): "UBERON:0000467", "UBERON:0004765", "UPHENO:0081550", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "HP:0003110", - "CHEBI:36359", + "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", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", "UBERON:0001062", "CHEBI:72695", "UPHENO:0068064", - "CHEBI:26079", - "CHEBI:33839", - "UPHENO:0082943", - "UPHENO:0075666", - "UPHENO:0002411", - "UBERON:0004120", - "HP:0002148", - "CHEBI:33304", - "HP:0010930", - "UBERON:0013702", - "UPHENO:0050080", - "GO:0098771", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", + "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", - "CHEBI:26082", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", + "UBERON:0004120", + "CHEBI:17234", "GO:0048878", - "UPHENO:0051937", - "UBERON:0002193", - "UPHENO:0051960", - "CHEBI:24870", - "UBERON:0000064", - "CHEBI:33241", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "HP:0001510", - "HP:0003109", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0051739", - "UPHENO:0079824", - "UPHENO:0051900", - "UPHENO:0049628", - "CHEBI:33238", - "UPHENO:0052008", "HP:0040156", "UBERON:0000463", "CHEBI:26020", - "UPHENO:0034217", + "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", - "PR:000003968", - "UBERON:0000479", - "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012211", + "UBERON:0004122", + "HP:0010935", "UBERON:0015212", - "CHEBI:78616", - "HP:0000077", + "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", - "UPHENO:0049709", "HP:0004322", "CHEBI:26216", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0004122", - "HP:0010935", - "UBERON:0005172", - "HP:0003126", - "HP:0002748", - "UPHENO:0002832", - "UPHENO:0002803", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UPHENO:0002816", - "UBERON:0011143", - "UBERON:0004819", + "UPHENO:0049709", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", "HP:0012599", - "CHEBI:33296", + "UPHENO:0051898", "PR:000000001", "UPHENO:0034199", - "UPHENO:0051898", - "UPHENO:0081547", - "CHEBI:25414", - "UPHENO:0068058", - "CHEBI:33674", - "UPHENO:0051930", - "CHEBI:33559", - "CHEBI:25213", - "CHEBI:26217", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0081544", + "CHEBI:15693", "UPHENO:0051645", + "CHEBI:33296", "HP:0010929", - "UPHENO:0051958", + "UPHENO:0034438", + "CHEBI:26217", "UPHENO:0052116", "CHEBI:24835", - "CHEBI:36586", - "CHEBI:33521", - "CHEBI:36914", - "UPHENO:0034438", - "UBERON:0006555", - "GO:0055080", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", "UBERON:0000061", "CHEBI:36916", "UPHENO:0079822", - "HP:0003648", + "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", - "carboxamide", + "peptide", "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", "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", - "peptide", - "growth", - "Growth delay", "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", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "increased level of carboxylic acid in independent continuant", "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", - "increased level of amino acid in urine", + "Organic aciduria", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of organic acid in urine", "hydroxides", "organic molecule", - "carbonyl compound", + "abnormal urine amino acid level", + "increased level of amino acid in urine", "abnormal size of anatomical entity", "abnormal amino acid level", - "Organic aciduria", - "abnormal urine amino acid level", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", + "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 urine metabolite level", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "oxygen molecular entity", - "organooxygen compound", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", "abnormal independent continuant glucose level", - "aldohexose", - "increased level of organic molecular entity in independent continuant", - "glucose", - "aldose", - "hexose", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", - "monosaccharide", - "abnormal renal system process", - "renal absorption", - "abnormal renal absorption", - "abnormal independent continuant amino acid level", - "renal system process", + "increased level of monosaccharide in urine", "organic molecular entity", - "protein-containing molecular entity", - "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", + "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", - "abnormality of muscle organ physiology", - "increased level of protein", - "increased level of glucose in urine", - "body proper", - "decreased muscle organ strength", + "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", - "abdominal segment of trunk", - "musculature of body", - "monoatomic cation", - "Abnormality of the upper urinary tract", - "chemical substance", - "abnormal independent continuant potassium atom level", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "increased level of rac-lactic acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "organic oxo compound", - "excreta", - "abnormal acid bodily fluid level", - "monoatomic monocation", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "increased level of rac-lactic acid in independent continuant", - "skeletal element", - "cavitated compound organ", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "chemical entity", - "increased independent continuant acid level", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased bodily fluid acid level", - "abnormal blood monoatomic ion level", - "decreased level of potassium atom in blood", - "Metabolic acidosis", - "homeostatic process", - "protein", - "phenotype by ontology source", - "decreased level of chemical entity in blood", + "abnormal renal absorption", + "skeletal system", + "abnormal size of multicellular organism", + "bone element", "decreased size of the multicellular organism", "Decreased bone element mass density", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "Phenotypic abnormality", - "Hyperphosphaturia", + "increased level of monosaccharide in independent continuant", "abnormal anatomical entity mass density", "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "Abnormal bone structure", - "anatomical system", - "potassium(1+)", - "All", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "abnormal size of multicellular organism", - "bone element", - "Abnormal renal tubular resorption", - "anatomical entity", - "multicellular anatomical structure", - "heteroorganic entity", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", "abnormal bone element mass density", "decreased role independent continuant level", - "Muscle weakness", + "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", - "abnormal musculature", + "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", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "genitourinary system", - "atom", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "carbon group molecular entity", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "Abnormal circulating enzyme concentration or activity", - "organism subdivision", + "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", - "material entity", - "organic amino compound", - "Acidosis", - "increased level of chemical entity", - "inorganic cation", - "Glycosuria", - "information biomacromolecule", - "abdominal segment element", - "Abnormal bone ossification", - "decreased size of the anatomical entity", - "blood", - "racemate", + "anatomical system", + "Abnormal bone structure", + "potassium(1+)", + "abnormal blood chemical entity level", "phosphate ion homeostasis", - "inorganic ion", - "abnormal genitourinary system", + "racemate", "Aminoaciduria", "organ system subdivision", - "primary amide", - "elemental molecular entity", - "nitrogen molecular entity", - "renal system", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "Abnormality of the genitourinary system", - "Reduced bone mineral density", - "inorganic ion homeostasis", - "Impaired renal tubular reabsorption of phosphate", - "multicellular organism", - "hematopoietic system", - "abnormal monoatomic cation homeostasis", - "alkaline phosphatase, tissue-nonspecific isozyme", - "nephron epithelium", - "polyatomic entity", + "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", - "Abnormal enzyme concentration or activity", - "p-block molecular entity", - "biomacromolecule", - "Abnormality of urine homeostasis", - "upper urinary tract", - "occurrent", - "organ", - "skeletal system", - "Abnormality of the urinary system physiology", - "abnormal blood chemical entity level", - "macromolecule", - "material anatomical entity", - "muscle structure", + "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", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "organism substance", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "main group molecular entity", + "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", - "chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal chemical homeostasis", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "haemolymphatic fluid", - "ion", - "abnormal homeostatic process", - "multicellular organismal process", - "abnormal blood phosphate level", - "Hypophosphatemia", - "monoatomic ion", + "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", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", + "trunk", "molecular entity", "Abnormality of blood and blood-forming tissues", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "trunk", + "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", - "excretory system", - "abnormal independent continuant monoatomic ion level", + "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", - "phosphorus oxoacids and derivatives", + "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", - "abdomen", - "Renal tubular dysfunction", - "abnormal kidney", - "trunk region element", - "Abnormality of the kidney", "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", - "excretory tube", - "kidney", - "oxoacid derivative", - "increased level of phosphate in urine", + "carbohydrates and carbohydrate derivatives", "mesoderm-derived structure", "Abnormal urinary electrolyte concentration", - "musculature", - "decreased role blood level", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "s-block molecular entity", - "s-block element atom", + "aldohexose", + "oxoacid derivative", + "increased level of phosphate in urine", "Abnormal blood cation concentration", "organonitrogen compound", "abnormal independent continuant potassium(1+) level", - "abnormal blood 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", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "elemental potassium", "Hypokalemia", - "Abnormal blood monovalent inorganic cation concentration", "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", - "decreased level of chemical entity", "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": None, @@ -12168,153 +12168,122 @@ def autocomplete(): "Short stature", ], "has_phenotype_closure": [ + "HP:0000002", "GO:0040007", + "UPHENO:0049874", "UPHENO:0081424", "UPHENO:0000543", - "UPHENO:0049874", + "HP:0001510", "HP:0001507", "UPHENO:0012541", - "HP:0000002", - "HP:0001510", - "HP:0001877", - "CL:0000329", - "HP:0012130", "UPHENO:0088162", + "CL:0000329", "CL:0000764", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", + "HP:0001877", + "HP:0012130", + "GO:0005623", + "UPHENO:0049990", + "UPHENO:0050121", "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", + "UPHENO:0050021", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", "GO:0010468", "GO:0010558", "GO:0031327", "GO:0006325", + "UPHENO:0049748", + "GO:0031049", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "GO:0071840", "GO:0050794", "GO:0019222", "GO:0048519", "GO:0006139", "GO:1901360", "GO:0043170", - "GO:0046483", - "UPHENO:0050845", - "HP:0003220", - "GO:0071840", + "GO:0046483", "UPHENO:0078606", "UPHENO:0050113", + "HP:0003220", "GO:0031052", - "CHEBI:24431", - "UPHENO:0051680", - "HP:0006254", - "UBERON:0010323", - "UPHENO:0086045", - "HP:0000234", - "UPHENO:0088338", - "UPHENO:0087089", - "UPHENO:0087123", - "HP:0000252", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0000541", - "HP:0001874", + "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:0088170", + "GO:0044238", + "UPHENO:0001001", + "UBERON:0034923", "GO:0010605", "GO:0009892", "UPHENO:0080079", "NCBITaxon:2759", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000152", - "UBERON:0000475", - "HP:0000240", + "HP:0004322", + "UBERON:0003129", "UBERON:0001434", - "UPHENO:0076805", - "HP:0025461", - "HP:0002060", - "CL:0000988", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "HP:0010987", - "UPHENO:0081435", - "HP:0000924", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0022529", - "UPHENO:0049587", - "UPHENO:0002844", - "UPHENO:0001002", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", + "HP:0033127", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0000234", + "UPHENO:0088338", "UBERON:0011676", "UBERON:0000061", - "UPHENO:0001003", - "GO:0050789", - "UBERON:0013701", - "HP:0001881", - "UPHENO:0085344", - "UPHENO:0063722", - "HP:0001872", - "HP:0032180", "UPHENO:0075159", "HP:0100547", - "GO:0071704", - "CL:0000219", - "UBERON:0011137", - "BFO:0000020", - "HP:0011991", - "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", - "CHEBI:33256", - "UBERON:0000062", "UPHENO:0086019", "UPHENO:0011498", "UPHENO:0077822", "UBERON:0011216", - "UPHENO:0076703", - "UBERON:0002193", - "CL:0001035", - "UPHENO:0085354", - "PR:000018263", - "UPHENO:0076799", - "UBERON:0000481", + "HP:0009121", + "CHEBI:15841", "UPHENO:0020584", "UPHENO:0087518", "OBI:0100026", "CL:0000766", - "UPHENO:0084928", - "UPHENO:0088318", - "HP:0000001", - "HP:0011875", - "HP:0430071", - "UPHENO:0085042", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "HP:0012443", - "HP:0032251", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", + "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:0076703", + "UPHENO:0085354", + "PR:000018263", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UBERON:0004120", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0007811", + "CL:0000255", + "CL:0000738", "UPHENO:0049700", "HP:0001911", - "UPHENO:0085405", - "UPHENO:0002764", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", "GO:0006807", "UPHENO:0006910", "CL:0002242", @@ -12323,229 +12292,261 @@ def autocomplete(): "UPHENO:0085076", "BFO:0000003", "UPHENO:0085356", - "PATO:0000001", - "UBERON:0034923", - "HP:0040012", - "UPHENO:0086005", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0085118", - "HP:0002715", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "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", - "UPHENO:0004523", - "UPHENO:0086176", + "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", "GO:0065007", - "HP:0010974", "UPHENO:0085070", - "CHEBI:36963", + "HP:0010974", + "HP:0012443", + "UPHENO:0088318", + "UPHENO:0084928", "HP:0000118", "UBERON:0000033", "UBERON:0000178", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0001875", - "UPHENO:0077426", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "UPHENO:0085984", - "CHEBI:51143", - "CL:0000255", - "UPHENO:0085189", - "UPHENO:0051612", - "CL:0000738", - "CL:0000763", - "CL:0000458", - "UPHENO:0088170", - "GO:0044238", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", - "CHEBI:37622", - "HP:0004322", - "UBERON:0003129", - "UPHENO:0086016", - "CL:0000000", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0004120", - "CL:0000094", + "UPHENO:0063722", + "HP:0001872", + "HP:0032180", + "UPHENO:0086176", + "UPHENO:0004523", + "UPHENO:0002764", + "UPHENO:0085405", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0001003", + "UPHENO:0080200", + "UBERON:0001890", "UPHENO:0046362", + "CL:0000094", "HP:0007364", - "UBERON:0000468", - "HP:0032309", - "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", + "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", "NCBITaxon:33208", "UPHENO:0076692", "UPHENO:0002536", - "UBERON:0010314", - "UBERON:0001062", - "UPHENO:0088321", - "CL:0000775", - "UBERON:0000075", - "UBERON:0010912", - "CL:0000225", - "UBERON:0010000", + "UPHENO:0085984", + "CHEBI:51143", + "HP:0001875", + "UPHENO:0077426", "UBERON:0002390", - "CHEBI:15841", + "UBERON:0010000", + "HP:0000252", + "UPHENO:0081566", + "HP:0006254", "GO:0031326", "UBERON:0002090", "CHEBI:23367", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "HP:0000152", + "UPHENO:0087907", + "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", - "UBERON:0002204", - "GO:0044237", - "HP:0002977", - "NCBITaxon:131567", - "NCBITaxon:33154", - "GO:0006725", - "UBERON:0001893", - "UPHENO:0080200", - "UBERON:0001890", - "HP:0033127", - "UPHENO:0076702", + "HP:0000240", + "UBERON:0000475", "HP:0001903", - "UBERON:0005944", "UPHENO:0088176", + "UBERON:0005944", "UBERON:0034925", "BFO:0000040", "HP:0033405", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "UBERON:0007811", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0086173", + "CL:0000775", + "UBERON:0000075", + "UPHENO:0051680", + "CL:0000225", + "UBERON:0010912", + "UBERON:0000062", "UPHENO:0086049", "HP:0011017", "PR:000000001", - "UPHENO:0084987", - "UPHENO:0048707", + "UPHENO:0086173", + "CL:0000151", "CL:0000232", "HP:0011873", - "CL:0000151", "UPHENO:0085302", - "UBERON:0004288", - "UPHENO:0085144", + "UPHENO:0084987", + "UPHENO:0048707", "HP:0020047", "CL:0002092", - "CHEBI:33579", "UPHENO:0051668", + "CHEBI:33579", "UPHENO:0087355", "UPHENO:0049873", "UBERON:0000153", "HP:0005561", + "UPHENO:0085195", "UPHENO:0087339", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0005528", - "UBERON:0002371", "GO:0006259", "UBERON:0001474", - "UPHENO:0085195", + "UBERON:0002371", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0005528", + "UPHENO:0035025", + "UBERON:0000479", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "UBERON:0002616", + "UPHENO:0048751", "UBERON:0001016", "CHEBI:36357", "UPHENO:0077821", "UBERON:0000463", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:16670", - "HP:0004364", "HP:0010876", "UPHENO:0085330", "GO:0008152", - "UBERON:0002616", - "UPHENO:0048751", "UPHENO:0046284", - "CHEBI:50860", - "CHEBI:16541", - "UPHENO:0068971", - "CHEBI:33695", - "UBERON:0001017", - "UPHENO:0081547", + "CHEBI:33694", "CHEBI:25806", + "CHEBI:50860", + "UPHENO:0051801", "CL:0000081", "CHEBI:35352", "UPHENO:0085068", "CHEBI:32988", "GO:0009987", "CHEBI:33285", + "BFO:0000015", + "CHEBI:33675", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", "UPHENO:0051763", + "UBERON:0001017", + "UPHENO:0081547", "UPHENO:0020888", "UPHENO:0077813", "GO:0008150", - "CHEBI:33675", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", - "BFO:0000015", - "CHEBI:33694", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0051801", + "HP:0004364", ], "has_phenotype_closure_label": [ - "delayed biological_process", - "Short stature", + "Abnormality of body height", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", "decreased height of the anatomical entity", + "Short stature", + "delayed biological_process", + "delayed growth", "Growth delay", "decreased size of the multicellular organism", - "Abnormality of body height", "abnormality of anatomical entity height", - "delayed growth", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", "abnormal erythrocyte morphology", - "abnormal primary metabolic process", + "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", - "regulation of cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", "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", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", "abnormal cellular component organization", "abnormal cellular metabolic process", - "obsolete cell", - "abnormal 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", "regulation of cellular process", @@ -12557,162 +12558,165 @@ def autocomplete(): "organelle organization", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "abnormal telencephalon morphology", - "anatomical entity", - "cellular organisms", - "polyatomic entity", - "Abnormality of head or neck", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "regional part of brain", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", + "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", "Abnormal leukocyte morphology", "Morphological central nervous system abnormality", "cell", "neutrophil", - "anterior region of body", - "multi-tissue structure", + "abnormal postcranial axial skeleton morphology", + "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", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "Chromosome breakage", - "abnormal chromatin organization", - "mesoderm-derived structure", - "macromolecule", - "anatomical system", - "main body axis", + "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", "immune system", "myeloid cell", "organonitrogen compound", "root", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", + "mesoderm-derived structure", + "macromolecule", + "organism", + "anatomical system", + "abnormal hematopoietic cell morphology", "Abnormal neutrophil count", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal bone marrow morphology", - "quality", + "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", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", + "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 cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", + "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", - "abnormal skull morphology", - "increased level of protein", - "abnormally decreased number of leukocyte in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "central nervous system", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "material anatomical entity", - "abnormal platelet morphology", - "Abnormal platelet count", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "nucleate cell", - "postcranial axial skeletal system", - "abnormal phenotype by ontology source", - "hematopoietic cell", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "abnormal immune system morphology", - "nitrogen molecular entity", - "chromatin organization", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", + "Decreased head circumference", + "abnormal granulocyte morphology", "abnormal brain morphology", "Abnormal cellular immune system morphology", - "amino acid chain", "tissue", + "amino acid chain", "abnormal axial skeleton plus cranial skeleton morphology", "organic molecular entity", - "primary amide", - "eukaryotic cell", - "skull", - "abnormal head", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "information biomacromolecule", - "multicellular organism", "hematopoietic system", - "abnormally decreased number of neutrophil", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal granulocyte morphology", + "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", - "regulation of macromolecule biosynthetic process", - "Abnormal circulating metabolite concentration", - "abnormally decreased number of granulocyte", + "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", - "Abnormal nervous system morphology", - "abnormally decreased number of cell", - "oxygen molecular entity", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "organic amino compound", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "material entity", - "abnormal alpha-fetoprotein level", + "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", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", + "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", @@ -12721,90 +12725,112 @@ def autocomplete(): "abnormal number of anatomical enitites of type cell", "abnormally decreased number of anatomical entity", "Elevated circulating alpha-fetoprotein concentration", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "abnormal size of multicellular organism", - "bone element", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal granulocyte morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "protein-containing molecular entity", - "skeleton", - "bone marrow", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal immune system", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of the head", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "erythrocyte", - "abnormal blood cell", - "organ system subdivision", - "abnormal size of skull", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "organism subdivision", - "decreased size of the anatomical entity", - "blood", - "subdivision of skeleton", + "skull", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "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", - "postcranial axial skeleton", - "abnormal skeletal system", + "Abnormality of head or neck", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "abnormal bone marrow morphology", + "skeleton", + "bone marrow", + "cellular organisms", + "polyatomic entity", "Metazoa", - "axial skeleton plus cranial skeleton", "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", - "abnormal craniocervical region", - "organism", - "Decreased head circumference", + "subdivision of skeleton", + "abnormal telencephalon morphology", + "central nervous system", + "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 platelet", - "cellular metabolic process", - "biogenic amine secreting cell", "abnormal blood chemical entity level", + "abnormal platelet", "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "bone cell", + "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", - "Bone marrow hypocellularity", - "skeletal element", "negative regulation of cellular metabolic process", "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", + "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", + "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", - "peptide", + "abnormal independent continuant alpha-fetoprotein level", + "abnormal independent continuant protein level", + "head", + "amide", + "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", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "abnormal role independent continuant level", - "abnormal independent continuant protein level", - "chalcogen molecular entity", + "p-block molecular entity", + "biomacromolecule", + "heteroorganic entity", + "Abnormal platelet morphology", + "alpha-fetoprotein", "entity", "subdivision of skeletal system", "Abnormal circulating protein concentration", @@ -12813,1181 +12839,1420 @@ def autocomplete(): "abnormal protein level", "metabolic process", "bodily fluid", - "organism substance", - "organ", - "occurrent", - "increased level of alpha-fetoprotein", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "organic substance metabolic process", - "Abnormal cellular physiology", - "increased level of chemical entity", - "head", - "amide", - "platelet", - "organooxygen compound", - "abnormal independent continuant alpha-fetoprotein level", - "p-block molecular entity", - "biomacromolecule", - "Abnormal platelet morphology", - "heteroorganic entity", - "alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", "abnormal blood nitrogen molecular entity level", "Abnormal circulating organic amino compound concentration", - "abnormal multicellular organism chemical entity level", - "main group molecular entity", - "negative regulation of cellular biosynthetic process", + "peptide", + "cellular component organization or biogenesis", ], "has_phenotype_count": 8, "highlight": None, "score": None, }, { - "id": "MONDO:0014986", + "id": "MONDO:0012565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", + "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 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 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": [ - "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", + "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", 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kidney", - "Bone marrow hypocellularity", "Microphthalmia", - "Chiari type I malformation", - "Anemia", + "Small for gestational age", + "Aplastic anemia", "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus", + "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": [ - "HP:0001574", - "HP:0011121", - "UBERON:0002416", - "UPHENO:0002635", - "UBERON:0005174", - "HP:0002144", - "UBERON:0002240", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "GO:0006996", - "HP:0001939", - "HP:0003221", - "UPHENO:0049990", - 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"UPHENO:0076692", - "UBERON:0000019", - "UBERON:0010708", - "GO:0050890", - "UPHENO:0084761", - "UPHENO:0047419", - "UPHENO:0011498", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0004523", - "UPHENO:0056237", - "UBERON:0010758", "UPHENO:0026506", - "GO:0032501", - "UPHENO:0004459", + "UPHENO:0082794", + "UBERON:0007811", + "UBERON:5002389", + "UPHENO:0086049", + "HP:0009815", + "UPHENO:0033572", + "GO:0010556", + "UBERON:0007272", + "UBERON:0010740", + "UPHENO:0081792", "UBERON:0002428", - "BFO:0000004", - "HP:0000001", - "UBERON:0001442", - "UPHENO:0080209", - "UBERON:0004923", - "UBERON:0012354", - "UBERON:0000020", - "HP:0040072", - "UPHENO:0080099", - "UBERON:0003129", - "UBERON:0015061", - "HP:0001249", - "UPHENO:0002833", - "UPHENO:0076703", - "BFO:0000040", - "UBERON:0002544", - "GO:0006259", - "UPHENO:0076720", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0005358", - "GO:0044237", - "HP:0002977", - "UBERON:0010363", + "UPHENO:0004459", + "HP:0011314", "UBERON:0006058", - "NCBITaxon:131567", - "UPHENO:0076723", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0086635", - "HP:0033127", - "UBERON:0002471", - "HP:0040070", - "HP:0100547", - "UPHENO:0002880", + "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", - "BFO:0000141", - "UPHENO:0002830", - "HP:0001903", - "UBERON:0005944", - "UBERON:0034925", - "UBERON:0004708", - "UPHENO:0086932", - "UBERON:5002544", - "UBERON:0000465", - "UBERON:0001130", - "UBERON:0005881", - "HP:0003330", - "HP:0040012", - "UPHENO:0071344", - "UBERON:0000467", - "UPHENO:0081466", - "UBERON:0004765", - "UPHENO:0085144", - "UBERON:0004288", - "GO:0010558", - "UBERON:0008785", - "UBERON:0012139", - "UPHENO:0084448", - "UBERON:0004710", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UBERON:5001463", - "HP:0000163", - "UPHENO:0002433", - "UBERON:0003947", - "NCBITaxon:2759", - "UBERON:0002389", - "UBERON:0001895", - "UPHENO:0002826", - "UBERON:0010740", - "UBERON:0004121", - "UBERON:0015203", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0011355", - "UBERON:0001359", - "UPHENO:0087006", - "UPHENO:0088047", - "UBERON:0000064", - "UPHENO:0056212", - "UPHENO:0078606", + "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", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UPHENO:0035147", - "UBERON:0005282", - "HP:0000929", - "UBERON:0000073", - "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "GO:0016043", + "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", - "UPHENO:0076805", - "GO:0031323", - "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "UPHENO:0047299", - "UBERON:0004086", - "UPHENO:0076702", - "HP:0031938", - "UBERON:0000463", - "UBERON:0000161", - "HP:0025031", - "UBERON:0002104", - "HP:0002118", - "UPHENO:0081451", - "UPHENO:0087349", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0086956", - "UPHENO:0079872", + "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", - "BFO:0000020", - "UBERON:0001555", - "UBERON:0006048", - "UPHENO:0087510", - "UPHENO:0080114", - "UBERON:0015001", + "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", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UBERON:0010741", - "UBERON:0003466", - "UPHENO:0076718", - "HP:0000925", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", + "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", - "UPHENO:0022529", - "HP:0009121", - "HP:0011793", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0025033", - "UBERON:0001245", - "HP:0006483", - "UBERON:0010912", + "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": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "skin of body", + "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", - "Nevus", - "Abnormal spinal cord morphology", - "spinal cord", - "Abnormal conus terminalis morphology", + "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", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "abnormal organelle organization", - "programmed DNA elimination", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal cellular process", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormally formed anatomical entity", - "segmental subdivision of nervous system", - "hindbrain", - "Abnormal metencephalon morphology", - "Cerebellar malformation", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", + "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", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "decreased size of the anatomical entity in the independent continuant", - "orbital region", - "Abnormality of the orbital region", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "Anemia", + "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", - "Abnormality of blood and blood-forming tissues", - "abnormal cell", - "immune system", - "disconnected anatomical group", - "abnormal immune system", - "non-connected functional system", - "Abnormal cellular phenotype", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", + "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", - "abnormal renal system morphology", - "abnormal anatomical entity topology in independent continuant", - "abnormal genitourinary system", - "abnormally localised anatomical entity", + "Neoplasm of the central nervous system", + "Abnormal cardiac ventricle morphology", + "Neoplasm of the nervous system", "Ectopic kidney", - "abnormal renal system", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormally localised anatomical entity in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abdomen", - "Abnormality of the upper urinary tract", - "abnormal bone marrow morphology", + "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 erythrocyte morphology", - "Abnormal number of permanent teeth", + "abnormal bone marrow morphology", + "Abnormal anus morphology", + "abnormally localised anatomical entity in independent continuant", "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormality of the face", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "anatomical cavity", - "abnormally decreased number of calcareous tooth", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "secondary dentition", - "abnormal mouth morphology", - "calcareous tooth", - "dentition", - "subdivision of tube", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "Abnormal number of teeth", - "myeloid cell", - "aplastic secondary dentition", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "subdivision of digestive tract", - "delayed biological_process", - "Growth delay", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", "Abnormal localization of kidney", + "aplasia or hypoplasia of manual digit", + "cardiac chamber", "face", + "abnormal orbital region", + "axial skeletal system", "Growth abnormality", - "delayed growth", - "abnormal size of anatomical entity", - "Decreased head circumference", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal forebrain morphology", - "Eukaryota", - "Eumetazoa", - "abnormal skull morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "abnormal telencephalon morphology", - "dorsal region element", - "Abnormality of skull size", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "body proper", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", - "multi-tissue structure", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "aplasia or hypoplasia of anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "Aplasia/hypoplasia involving bones of the upper limbs", - "bone marrow cell", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "limb endochondral element", - "genitourinary system", - "forelimb skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "Abnormal finger morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal appendicular skeleton morphology", - "multi-limb segment region", - "endochondral element", - "digit", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "head", - "Abnormality of limb bone", - "Neurodevelopmental delay", - "pectoral appendage", - "absent anatomical entity", - "brain ventricle", - "aplastic manual digit 1", - "abnormal growth", - "independent continuant", - "organic cyclic compound metabolic process", - "segment of autopod", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "skeletal system", - "root", - "appendage", - "tube", - "abnormal manual digit 1 morphology", - "organ subunit", - "Cognitive impairment", - "anatomical space", - "paired limb/fin", - "digestive system", - "upper limb segment", - "appendicular skeleton", - "abnormal anatomical entity morphology in the manus", - "manual digitopodium region", - "abnormal forelimb morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "abnormal dentition", - "Abnormal nervous system physiology", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "cerebrospinal fluid", - "Abnormal cell morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormality of the eye", - "abnormal upper urinary tract", - "mouth", - "musculoskeletal system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of mental function", + "Pelvic kidney", + "abnormal pigmentation", + "heart", + "Abnormality of the head", "organic substance metabolic process", + "3-D shape anatomical entity in independent continuant", "Abnormal cellular physiology", - "Pelvic kidney", - "abnormality of nervous system physiology", - "skeleton of manus", - "lateral structure", - "digestive tract", - "process", - "hematopoietic system", - "multicellular organism", - "absent anatomical entity in the multicellular organism", - "agenesis of anatomical entity", - "abnormal face", - "autopodial extension", - "Bone marrow hypocellularity", - "skeletal element", - "zeugopod", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of the hand", - "Abnormal appendicular skeleton morphology", - "Delayed ability to walk", - "material entity", - "abnormal cerebellum morphology", - "skeleton", - "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 limb bone morphology", - "cellular process", - "Abnormal digit morphology", - "decreased size of the anatomical entity", - "cognition", - "ventricular system of brain", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "organism", - "autopod region", - "biological_process", - "Finger aplasia", - "entire sense organ system", - "continuant", - "manual digit 1 plus metapodial segment", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "forelimb zeugopod", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "digit plus metapodial segment", - "skeleton of limb", - "material anatomical entity", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "radius endochondral element", - "regulation of cellular biosynthetic process", + "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", - "Intellectual disability", - "abnormal digestive system morphology", - "bone marrow", - "acropodium region", - "Aplasia/hypoplasia of the extremities", - "forelimb", - "Abnormal skeletal morphology", - "aplasia or hypoplasia of manual digit", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "cavitated compound organ", + "Abnormal leukocyte count", + "abnormal hematopoietic cell morphology", "digit 1", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "postcranial axial skeleton", - "bone of free limb or fin", - "abnormal autopod region morphology", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "autopodial skeleton", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual 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 anus morphology", - "organism subdivision", - "occurrent", - "organ", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "trunk region element", - "pectoral complex", - "eye", - "Opisthokonta", - "paired limb/fin segment", - "appendicular skeletal system", - "skeleton of pectoral complex", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "abnormal manual digit morphology in the independent continuant", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "Microphthalmia", - "abnormal skeletal system", - "macromolecule metabolic process", - "appendage girdle complex", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "mesoderm-derived structure", - "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", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", - "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "Chiari malformation", - "anatomical conduit", - "Abnormality of the head", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "craniocervical region", - "abnormal long bone morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", + "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", - "abnormal anatomical entity morphology", - "arm bone", - "ventricle of nervous system", - "axial skeletal system", - "Radial dysplasia", - "Abnormal long bone morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "obsolete cell", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "dysgenesis of the anatomical entity", - "subdivision of head", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "trunk", - "Abnormality of the vertebral column", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal bone structure", - "abnormal vertebral column", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", + "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", - "Abnormality of the digestive system", - "anus", "protein-DNA complex organization", - "Abnormal anus morphology", + "negative regulation of macromolecule metabolic process", "DNA metabolic process", - "orifice", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "immaterial anatomical entity", - "anus atresia", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Chiari type I malformation", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Metazoa", + "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": 18, + "has_phenotype_count": 25, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py index ce89ea3b1..4c068982d 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", @@ -130,114 +130,97 @@ def autocomplete_response(): ], "has_phenotype_count": 34, "has_phenotype_closure": [ - "HP:0003254", - "HP:0003213", - "UPHENO:0049964", - "UPHENO:0051124", "GO:0051716", "GO:0006950", - "GO:0051319", + "HP:0003213", + "UPHENO:0051124", + "HP:0003254", + "UPHENO:0049964", "GO:0007049", - "GO:0050954", - "HP:0000598", - "GO:0007605", + "GO:0051319", "UPHENO:0050625", "HP:0000364", + "GO:0007605", "UPHENO:0005518", + "HP:0000598", + "GO:0050954", "UPHENO:0052970", "UBERON:0002105", - "NBO:0000338", - "UPHENO:0049586", - "HP:0000708", - "UPHENO:0049622", "GO:0007610", - "HP:0000486", - "UBERON:0006800", - "BFO:0000141", + "HP:0000708", "HP:0000549", - "HP:0000496", + "HP:0000486", + "UPHENO:0049622", "NBO:0000444", + "HP:0000496", "UBERON:0010222", - "UPHENO:0079828", "UPHENO:0080585", - "GO:0050896", + "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:0080351", "UPHENO:0075159", - "UPHENO:0041226", - "HP:0000085", - "UPHENO:0082444", "GO:0007600", "UPHENO:0041075", + "HP:0000085", + "UPHENO:0041465", + "UPHENO:0082444", + "UPHENO:0041226", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0041465", "HP:0000081", "UPHENO:0075787", + "HP:0002664", + "HP:0011793", "HP:0001909", "HP:0004377", - "HP:0011793", - "HP:0002664", - "UBERON:0000477", - "GO:0008015", + "HP:0002597", "HP:0001892", "HP:0011029", - "HP:0002597", "UPHENO:0002678", - "GO:0003013", + "UBERON:0000477", "HP:0000978", "UPHENO:0051097", "HP:0001933", "UBERON:0007798", - "UPHENO:0084447", + "GO:0003013", + "GO:0008015", + "HP:0009943", + "HP:0011314", "HP:0009602", + "UPHENO:0087369", + "HP:0009942", "UBERON:0003221", "UBERON:0012357", - "HP:0011314", - "HP:0009943", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0087369", - "HP:0009942", "UPHENO:0021800", + "UPHENO:0084447", "GO:0022403", "UBERON:0004249", "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "GO:0010556", - "GO:0031326", - "GO:0009890", - "HP:0011276", - "UBERON:0005897", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "GO:0005623", + "UPHENO:0049873", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0010629", "GO:0065007", "UPHENO:0080581", "UPHENO:0050021", - "GO:0010629", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", "UPHENO:0000541", "UBERON:0001436", "GO:0010468", @@ -245,150 +228,173 @@ def autocomplete_response(): "GO:0010558", "GO:0031327", "GO:0006325", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", + "UPHENO:0049700", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "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", - "UPHENO:0049873", - "GO:0008152", - "HP:0000365", - "GO:0009987", + "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", + "UPHENO:0082794", "GO:0040007", "UPHENO:0049874", + "UPHENO:0010763", "UBERON:0010543", "HP:0001507", - "UPHENO:0082794", - "UPHENO:0010763", "UPHENO:0054299", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0020041", - "HP:0000271", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", "UPHENO:0069523", - "UBERON:0000020", - "UPHENO:0087472", + "UPHENO:0080209", "GO:0033554", "UBERON:0000970", "UBERON:0001456", - "UBERON:0004088", - "HP:0000568", - "UBERON:0004456", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", "UPHENO:0087924", "HP:0100887", "HP:0000478", "UPHENO:0002910", + "UPHENO:0020041", + "HP:0000271", "HP:0011025", "HP:0000315", - "UPHENO:0080209", - "HP:0001896", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", "HP:0004312", + "HP:0001896", "UPHENO:0086002", "UPHENO:0049588", "CL:0000558", "UPHENO:0046505", + "UPHENO:0088186", "HP:0009381", - "UPHENO:0012541", "UPHENO:0002433", "CL:0000233", - "GO:0008150", - "UPHENO:0020888", + "UPHENO:0026506", "UBERON:0015061", "UBERON:0003129", - "UPHENO:0026506", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "NCBITaxon:2759", - "UPHENO:0084448", + "UBERON:0010708", "UBERON:0012139", - "UPHENO:0082761", - "CL:0000738", - "HP:0000027", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UBERON:0010363", - "HP:0002977", - "HP:0009777", - "UBERON:0010708", - "UBERON:0002204", - "UPHENO:0086700", - "UPHENO:0086019", "UBERON:0019221", "GO:0044848", "UBERON:0001460", "UBERON:0002513", "UBERON:0011138", "GO:0022414", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "HP:0045060", - "UPHENO:0086633", + "NCBITaxon:2759", "UBERON:0006717", "UPHENO:0001003", "UPHENO:0076810", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "CL:0000775", - "UPHENO:0088186", + "CL:0000225", "UBERON:0011582", "GO:0006996", "HP:0008678", "UPHENO:0085263", "UPHENO:0052178", - "CL:0000225", - "UBERON:0001440", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "GO:0003008", - "UBERON:0010538", - "HP:0001167", - "HP:0040064", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", + "UBERON:0002204", "UPHENO:0080300", "UPHENO:0009382", "UBERON:0004708", "UPHENO:0085068", "UPHENO:0021474", "UBERON:5001463", - "UBERON:0012140", - "UBERON:0005451", + "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", - "UPHENO:0049952", - "HP:0040068", - "UPHENO:0002708", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0000153", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", "UBERON:0012141", + "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", @@ -398,19 +404,18 @@ def autocomplete_response(): "GO:0034641", "HP:0000929", "HP:0010461", - "UBERON:0000153", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "HP:0012638", + "UPHENO:0053644", + "UBERON:8450002", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "UBERON:0003103", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0088321", "UPHENO:0049367", "UPHENO:0075997", "UBERON:0002371", @@ -419,63 +424,70 @@ def autocomplete_response(): "HP:0012373", "HP:0100542", "UBERON:0000916", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UPHENO:0085984", - "UBERON:0005173", - "UBERON:0005177", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", + "UPHENO:0002803", + "UBERON:0005172", + "CL:0001035", + "BFO:0000040", "UPHENO:0084766", "UBERON:0015212", - "BFO:0000040", - "BFO:0000004", - "UBERON:8450002", - "UPHENO:0053644", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", + "UPHENO:0059829", + "HP:0011991", "UBERON:0011250", "UPHENO:0086176", "UBERON:0010758", "UPHENO:0087846", - "UBERON:5006048", - "UBERON:0003133", - "UBERON:0003103", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UPHENO:0085984", "HP:0020047", "GO:0007276", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "GO:0032501", - "UBERON:0013701", + "HP:0001874", + "UPHENO:0076692", + "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", - "HP:0001874", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0063722", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0088335", - "HP:0000924", - "UBERON:0004121", + "UPHENO:0001002", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "UBERON:0008785", + "CL:0000255", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", "GO:0043170", "HP:0011961", "UPHENO:0077426", @@ -484,12 +496,6 @@ def autocomplete_response(): "UPHENO:0076724", "UPHENO:0081451", "UBERON:0002101", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", "HP:0000152", "GO:0048523", "HP:0000079", @@ -497,277 +503,267 @@ def autocomplete_response(): "UPHENO:0085330", "UPHENO:0076703", "HP:0003974", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UPHENO:0001002", - "UBERON:0000062", + "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:0005881", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:5002544", - "UPHENO:0087510", - "GO:0006281", - "BFO:0000002", - "HP:0012639", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0000467", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", + "UBERON:0008962", + "HP:0012210", + "UBERON:0001463", "HP:0001877", "UBERON:0002389", "UPHENO:0087349", "UBERON:0000468", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UBERON:0004120", - "HP:0005922", - "UBERON:0005178", - "UPHENO:0049701", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0012638", "UPHENO:0079876", "UPHENO:0053580", "UBERON:0011143", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "HP:0011991", - "UPHENO:0059829", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0087802", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0086016", + "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", - "UPHENO:0085371", - "HP:0025354", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0000144", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0087427", "CL:0002242", "UPHENO:0085405", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UPHENO:0087427", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0002529", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UBERON:0003607", - "HP:0011844", - "HP:0007364", - "UPHENO:0080079", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UPHENO:0049748", - "HP:0000707", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0087802", + "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", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", "UPHENO:0076805", "UPHENO:0085189", - "UBERON:0012475", - "UPHENO:0002880", - "HP:0000144", - "HP:0001518", - "HP:0100547", - "HP:0032309", - "UPHENO:0078606", - "HP:0006265", - "UPHENO:0087123", - "UPHENO:0035025", - "UBERON:0000479", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", "HP:0000086", "CL:0000766", - "UBERON:0002091", - "UPHENO:0020584", + "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", - "UPHENO:0046624", - "UBERON:0004381", - "UPHENO:0011498", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0050108", - "HP:0100543", - "CL:0000408", - "GO:0007283", - "UPHENO:0075220", - "UPHENO:0087907", - "HP:0006501", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", + "UBERON:0001440", + "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", - "UPHENO:0086589", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", "UPHENO:0080377", "UBERON:0011137", "UBERON:0000489", "UBERON:0010323", - "UBERON:0002090", - "GO:0048232", - "UBERON:0001017", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0054970", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", "HP:0002011", "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0080362", - "BFO:0000001", - "UPHENO:0002635", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", "HP:0001626", - "UBERON:0001009", "UBERON:0000948", - "UPHENO:0005016", - "UBERON:0007100", - "NCBITaxon:6072", - "UPHENO:0076776", + "BFO:0000001", + "UPHENO:0002635", "UBERON:0000915", "UBERON:0005181", + "UPHENO:0080362", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0001009", "HP:0030680", - "UPHENO:0080221", + "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", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", "UBERON:0002102", "UPHENO:0003811", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "HP:0011121", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", "HP:0000002", "UPHENO:0076740", "HP:0000953", "HP:0000789", "UBERON:0004710", "UPHENO:0088162", - "UPHENO:0074589", "GO:0050794", "UPHENO:0085875", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001574", - "HP:0003251", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", + "HP:0011121", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0003055", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "HP:0000078", "HP:0011028", "UBERON:0010712", "HP:0000080", - "UPHENO:0003055", - "UBERON:0005156", - "UPHENO:0080126", - "UBERON:0015204", + "UPHENO:0066972", + "UBERON:0000990", "UPHENO:0003020", "UBERON:0005944", "UBERON:0000991", - "HP:0001903", - "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0066972", - "HP:0000818", - "UBERON:0000990", "HP:0008373", - "HP:0000118", - "HP:0001876", - "UPHENO:0024906", - "HP:0000078", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0000818", + "UBERON:0005156", "CL:0000232", "UBERON:0004375", "HP:0011873", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", "UPHENO:0087089", "CL:0000764", "UBERON:0001474", "CL:0000329", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", "UPHENO:0082875", "HP:0011355", "HP:0000104", @@ -779,6 +775,8 @@ def autocomplete_response(): "UPHENO:0025211", "HP:0025461", "UPHENO:0009399", + "UBERON:0013702", + "UPHENO:0080187", "UBERON:0015021", "UBERON:0002386", "UPHENO:0086635", @@ -786,41 +784,43 @@ def autocomplete_response(): "HP:0000812", "UBERON:0000955", "UBERON:0010703", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0085356", + "GO:0019953", "UBERON:0010912", "CL:0000094", "HP:0040072", - "UPHENO:0086956", - "UPHENO:0085356", - "GO:0019953", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UBERON:0004176", "UPHENO:0079872", "UPHENO:0009341", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0013702", - "UPHENO:0080187", + "UBERON:0001423", + "UPHENO:0086956", + "HP:0040070", "UBERON:0002405", "UPHENO:0021561", "UBERON:0003606", - "UBERON:0002104", - "HP:0006503", "UPHENO:0041821", "HP:0009825", "UPHENO:0002332", "HP:0012874", + "UBERON:0002104", + "HP:0006503", "HP:0009142", "UBERON:0004535", "UPHENO:0002751", "UBERON:0002495", - "UBERON:0001423", + "GO:0071840", + "HP:0002813", + "HP:0002818", "HP:0001249", "UBERON:0001968", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", "UBERON:0010741", "UPHENO:0081755", "UBERON:0002471", @@ -828,198 +828,195 @@ def autocomplete_response(): "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "HP:0040070", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000457", "UPHENO:0086045", "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0011584", - "UPHENO:0084987", "UPHENO:0085042", "HP:0012145", - "UPHENO:0084761", - "HP:0001872", + "UPHENO:0087355", + "CL:0000457", + "UPHENO:0087339", "CL:0000458", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", "UPHENO:0026028", "UPHENO:0084928", "UPHENO:0085302", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0086201", - "HP:0001000", - "UPHENO:0080382", - "HP:0003953", - "GO:0048609", - "GO:0003006", + "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", - "UPHENO:0052231", - "HP:0000028", "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", - "HP:0000811", - "HP:0005918", - "HP:0012243", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", "HP:0001172", - "UBERON:0011676", "HP:0002973", + "UBERON:0011676", "HP:0000025", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0004288", "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", - "HP:0008669", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", "UPHENO:0086198", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", "HP:0012041", "UPHENO:0079826", "UBERON:0004122", "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", "UBERON:0015063", "UPHENO:0078729", "UBERON:0000463", "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0008668", - "UPHENO:0068971", - "UPHENO:0046411", + "HP:0005918", + "HP:0012243", + "UPHENO:0012541", "HP:0004325", "UPHENO:0031839", + "UPHENO:0046411", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "UPHENO:0008668", + "UPHENO:0068971", ], "has_phenotype_closure_label": [ "Decreased fertility in males", "Decreased fertility", - "DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", "abnormal response to stress", + "DNA repair", + "response to stress", "abnormal cellular response to stress", "abnormal DNA repair", - "response to stress", - "cell cycle phase", + "Deficient excision of UV-induced pyrimidine dimers in DNA", "Abnormality of the cell cycle", "G2 phase", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormal ear", + "cell cycle phase", "abnormal sensory perception", "Hearing abnormality", + "decreased sensory perception of sound", "ear", + "abnormal ear", "sensory perception of sound", - "body part movement", + "decreased qualitatively sensory perception of mechanical stimulus", "anatomical line", + "body part movement", "immaterial anatomical entity", - "Strabismus", - "abnormal response to stimulus", + "behavior", "response to stimulus", - "behavior process", - "abnormal eye movement", "eye movement", - "behavior", - "delayed biological_process", - "Short stature", + "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", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Horseshoe kidney", + "shape anatomical entity", "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "shape anatomical entity", - "Horseshoe kidney", "3-D shape anatomical entity", "U-shaped anatomical entity", "Neoplasm", "Hematological neoplasm", - "Generalized abnormality of skin", - "Internal hemorrhage", + "vasculature", "Abnormality of the vasculature", "blood circulation", - "Vascular skin abnormality", - "Abnormality of blood circulation", - "vasculature", - "abnormality of cardiovascular system physiology", - "Abnormal bleeding", "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", + "manual digit bone", "Duplication of bones involving the upper extremities", - "phalanx", "phalanx endochondral element", "manual digit phalanx endochondral element", - "abnormal phalanx morphology", - "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", + "abnormal phalanx morphology", "acropodial skeleton", - "manual digit bone", + "abnormal phalanx of manus morphology", + "Abnormality of thumb phalanx", + "phalanx", "digit 1 digitopodial skeleton", "manual digit digitopodial skeleton", "digitopodium bone", "skeleton of manual acropodium", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "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", - "Abnormality of DNA repair", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", + "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", @@ -1031,126 +1028,104 @@ def autocomplete_response(): "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "cellular component organization or biogenesis", + "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", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "abnormal growth", + "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", - "decreased anatomical entity mass", - "abnormal size of eyeball of camera-type eye", + "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", - "Abnormality of the face", - "simple eye", - "sensory system", + "abnormal camera-type eye morphology", "Abnormality of the eye", "abnormal face", - "sense organ", - "eyeball of camera-type eye", - "camera-type eye", - "Microphthalmia", "orbital region", - "Abnormality of the orbital region", "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", + "abnormal size of eyeball of camera-type eye", "visual system", - "abnormally decreased number of reticulocyte", - "reticulocyte", - "multicellular organismal reproductive process", - "Non-obstructive azoospermia", - "axial skeleton plus cranial skeleton", + "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", - "system process", - "Male infertility", - "abnormal limb morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "appendicular skeletal system", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "entity", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", + "axial skeleton plus cranial skeleton", "Abnormal appendicular skeleton morphology", "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "system", - "aplasia or hypoplasia of manual digit 1", - "bone of appendage girdle complex", - "Abnormal finger phalanx morphology", - "pigmentation", + "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 limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "occurrent", + "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", + "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "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", - "paired limb/fin skeleton", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "digit plus metapodial segment", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "forelimb", - "Abnormal forebrain morphology", - "abnormal digit morphology", - "abnormal manus", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal skeletal system", - "digit 1 plus metapodial segment", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", @@ -1160,82 +1135,87 @@ def autocomplete_response(): "skeleton", "male gamete generation", "absent anatomical entity", - "regulation of metabolic process", - "Decreased body weight", - "autopodial extension", - "manual digit 1", - "abnormal immune system morphology", - "skeletal system", - "motile cell", - "Abnormality of limbs", - "Abnormality of limb bone morphology", "Abnormal digit morphology", - "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 cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "abnormally decreased number of myeloid cell", - "aplastic anatomical entity", - "face", - "aplasia or hypoplasia of manual digit", + "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", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "acropodium region", - "Intellectual disability", - "bone marrow", + "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", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "abnormal enucleated reticulocyte morphology", - "nucleate cell", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "sexual reproduction", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "Macule", - "renal system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "quality", "abnormal manus morphology", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", + "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", - "Aplasia/Hypoplasia of fingers", "digitopodium region", + "Aplasia/Hypoplasia of fingers", "abnormal myeloid cell morphology", "increased biological_process", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "hemolymphoid system", - "Aplasia/hypoplasia involving the skeleton", + "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", @@ -1247,18 +1227,68 @@ def autocomplete_response(): "Abnormal cerebral morphology", "abnormal blood circulation", "arm bone", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "abnormal immune system", + "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", + "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 leukocyte morphology", - "anatomical line between pupils", - "independent continuant", + "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", @@ -1266,29 +1296,27 @@ def autocomplete_response(): "Hypermelanotic macule", "abnormal bone marrow morphology", "reproduction", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Abnormal cellular immune system morphology", - "Abnormal nervous system physiology", - "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "multicellular organism", "Thrombocytopenia", - "skeletal element", - "zeugopod", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "renal collecting system", - "Ectopic kidney", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", + "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", @@ -1296,9 +1324,9 @@ def autocomplete_response(): "Abnormality of neutrophils", "leukocyte", "abnormal gamete generation", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "continuant", + "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", @@ -1306,70 +1334,15 @@ def autocomplete_response(): "negative regulation of biosynthetic process", "material entity", "long bone", - "regional part of nervous system", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "abdominal segment element", - "abnormal reproductive system morphology", - "abnormal hematopoietic system", - "Renal agenesis", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "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", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "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", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "aplastic manual digit 1", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic cell morphology", - "viscus", - "Abnormal granulocyte morphology", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Complete duplication of phalanx of hand", - "limb bone", - "granulocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal nervous system", "paired limb/fin segment", "abnormality of camera-type eye physiology", "immune system", - "abnormally decreased number of leukocyte in the independent continuant", "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "Absent forearm bone", "Leukemia", "abnormal cell morphology", @@ -1385,6 +1358,34 @@ def autocomplete_response(): "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", @@ -1392,6 +1393,9 @@ def autocomplete_response(): "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", @@ -1401,95 +1405,84 @@ def autocomplete_response(): "compound organ", "zeugopodial skeleton", "limb long bone", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", "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", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "manual digit 1 plus metapodial segment", - "abdomen", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "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 nervous system", + "abnormal hematopoietic cell morphology", "biological phase", "autopod bone", "mesoderm-derived structure", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", + "abnormal manus", + "craniocervical region", + "abnormal forebrain morphology", "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", "abnormal craniocervical region morphology", "immaterial entity", "Abnormality of chromosome stability", "anatomical entity dysfunction in independent continuant", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "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", - "craniocervical region", + "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", - "decreased size of the multicellular organism", - "Abnormality of skull size", + "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", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "kinesthetic behavior", - "Eumetazoa", - "Infertility", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal forebrain morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal skull morphology", - "reproductive organ", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Decreased head circumference", + "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", @@ -1497,42 +1490,51 @@ def autocomplete_response(): "Abnormal axial skeleton morphology", "non-material anatomical boundary", "erythroid lineage cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", + "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", - "heart plus pericardium", - "Cryptorchidism", + "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", - "abnormal integument", - "Cafe-au-lait spot", - "abnormally decreased number of anatomical entity in the independent continuant", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Neutropenia", - "reproductive structure", "changed biological_process rate", "increased biological_process in skin of body", "absent germ cell", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal skin of body", "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", - "integumental system", - "integument", - "absent radius bone in the forelimb", "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", @@ -1541,28 +1543,27 @@ def autocomplete_response(): "germ line cell", "abnormal pigmentation in independent continuant", "Abnormal forearm bone morphology", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "Abnormality of the head", - "heart", - "abnormal pigmentation", + "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", - "Abnormality of the genital system", + "abnormal endocrine system", + "abnormally decreased number of reticulocyte", + "Abnormality of the endocrine system", "Abnormality of reproductive system physiology", "gamete", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "glandular system", "male gamete", "abnormally decreased functionality of the gonad", - "oxygen accumulating cell", + "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", @@ -1570,134 +1571,133 @@ def autocomplete_response(): "abnormal shape of continuant", "trunk", "abnormal bone marrow cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", "absent kidney", "subdivision of skeletal system", "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "forelimb zeugopod skeleton", - "forelimb zeugopod", - "abnormal testis morphology", "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", - "abnormal radius bone morphology", - "Absent radius", - "aplastic forelimb zeugopod bone", - "abnormal size of skull", - "forelimb long bone", "sensory perception of mechanical stimulus", "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", + "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", "anucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", "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", - "digit 1", - "abnormal platelet morphology", + "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", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", "germ cell", - "abnormal internal genitalia", - "abnormal cell", - "disconnected anatomical group", - "male reproductive organ", - "internal genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "haploid cell", + "absent gamete", + "sperm", "abnormal gamete", "Reticulocytopenia", - "interphase", - "semen", "organism substance", - "Abnormal external genitalia", + "haploid cell", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "internal genitalia", + "abnormal internal genitalia", "platelet", "absent sperm in the independent continuant", - "male germ cell", - "abnormal granulocyte morphology", - "Azoospermia", "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", - "testis", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive 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", - "sperm", - "absent gamete", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "Abnormal testis morphology", + "abnormal granulocyte morphology", + "Azoospermia", "absent anatomical entity in the independent continuant", "abnormally localised testis", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", + "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", + "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", - "Short finger", "skeleton of digitopodium", "Short digit", - "anterior region of body", - "decreased length of manual digit 1", + "reticulocyte", ], }, { @@ -1722,10 +1722,10 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0007018", "HP:0040012", - "HP:0008551", + "HP:0007018", "HP:0000470", + "HP:0008551", "HP:0009777", "HP:0004590", "HP:0002575", @@ -1760,10 +1760,10 @@ def autocomplete_response(): "HP:0000089", ], "has_phenotype_label": [ - "Attention deficit hyperactivity disorder", "Chromosome breakage", - "Microtia", + "Attention deficit hyperactivity disorder", "Short neck", + "Microtia", "Absent thumb", "Hypoplastic sacrum", "Tracheoesophageal fistula", @@ -1800,187 +1800,201 @@ def autocomplete_response(): "has_phenotype_count": 36, "has_phenotype_closure": [ "UPHENO:0081210", - "UPHENO:0085195", - "UPHENO:0087123", - "HP:0012145", - "HP:0005528", "UBERON:0000479", + "HP:0005528", + "HP:0002715", "HP:0005561", + "UPHENO:0085195", "UPHENO:0087355", - "HP:0002715", - "UBERON:0008340", - "UPHENO:0006161", - "UPHENO:0087278", + "UPHENO:0087123", + "HP:0012145", "UPHENO:0006147", + "UPHENO:0087278", "UPHENO:0081800", + "UBERON:0008340", "HP:0000431", + "UPHENO:0006161", "HP:0000568", - "HP:0008056", "HP:0100887", + "HP:0008056", + "UPHENO:0000552", + "UPHENO:0050372", "GO:0048709", + "GO:0048869", + "HP:0012448", "GO:0007399", "GO:0032291", "GO:0022008", "GO:0010001", - "HP:0012448", - "GO:0048869", - "UPHENO:0000552", - "UPHENO:0050372", - "UPHENO:0076779", - "UPHENO:0087427", - "GO:0030154", - "UBERON:0002113", - "UBERON:0011143", "UBERON:0000916", "UPHENO:0083952", "UBERON:8450002", - "HP:0000122", "UPHENO:0026980", "UPHENO:0008593", - "GO:0014003", - "HP:0001877", - "HP:0012130", - "UBERON:0002390", - "UPHENO:0004459", - "HP:0001903", + "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", - "UPHENO:0082467", - "UPHENO:0041458", - "UPHENO:0041203", - "UBERON:0000004", - "UBERON:0002268", - "UPHENO:0087430", + "HP:0012130", + "HP:0001903", + "UPHENO:0004459", "HP:0000366", "UPHENO:0082454", - "UPHENO:0081585", - "UPHENO:0082356", + "UPHENO:0041203", "UPHENO:0041080", "UPHENO:0075219", "HP:0005105", + "UPHENO:0087430", + "UPHENO:0041458", + "UBERON:0002268", + "UPHENO:0081585", + "UPHENO:0082356", + "UBERON:0000004", + "UPHENO:0082467", "HP:0000436", - "UPHENO:0080209", - "UPHENO:0068843", - "UBERON:0004053", - "UBERON:0008811", "HP:0010935", "UPHENO:0002907", "HP:0003241", - "HP:0000032", + "UBERON:0003101", + "UBERON:0004053", + "UBERON:0008811", "HP:0008736", + "UBERON:0000989", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", "UBERON:0001008", "UPHENO:0081320", "UPHENO:0002948", "UPHENO:0087643", - "UBERON:0000989", - "UBERON:0003101", - "UPHENO:0050406", - "HP:0000811", - "HP:0010461", "HP:0000054", + "HP:0000032", + "UPHENO:0087802", "HP:0001871", "UBERON:0000079", - "UPHENO:0087802", - "UPHENO:0075655", + "UPHENO:0080209", + "UPHENO:0068843", + "HP:0000175", + "HP:0000202", "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0002553", "UBERON:0001716", - "HP:0000202", + "UBERON:0000464", "UBERON:0001709", - "UBERON:0002553", - "UPHENO:0076786", + "UPHENO:0075655", "UPHENO:0033635", - "UBERON:0000464", - "HP:0000175", - "UPHENO:0020013", + "HP:0011283", "NCBITaxon:6072", - "NCBITaxon:2759", - "UPHENO:0081601", + "UPHENO:0076720", + "UPHENO:0080089", + "NCBITaxon:131567", + "UPHENO:0020013", + "UBERON:0004732", "UBERON:0002028", "UBERON:0002037", "UBERON:0001895", "NCBITaxon:33154", - "NCBITaxon:131567", - "UPHENO:0080089", - "HP:0002977", + "UPHENO:0081601", "GO:0007417", "UBERON:0004176", "UBERON:0004733", - "UBERON:0004732", - "UPHENO:0076720", "NCBITaxon:1", - "HP:0011283", + "HP:0002977", "UBERON:0000063", "UBERON:0000073", + "NCBITaxon:2759", "HP:0011968", "UPHENO:0063603", "HP:0002589", "HP:0003221", "HP:0001263", - "UPHENO:0002642", + "UBERON:0005156", "HP:0000151", - "UPHENO:0020950", - "UBERON:0000990", + "UBERON:0003100", + "UPHENO:0003053", + "UPHENO:0002642", "UPHENO:0025875", "UBERON:0003134", "UBERON:0000995", - "UPHENO:0087547", - "HP:0000130", - "UPHENO:0003053", - "UBERON:0003100", + "UBERON:0000990", + "UPHENO:0003055", "HP:0010460", + "UPHENO:0020950", "UPHENO:0005170", - "UBERON:0005156", - "UPHENO:0003055", + "HP:0000130", + "UPHENO:0087547", "UPHENO:0009305", + "UPHENO:0005642", "UPHENO:0002832", "UPHENO:0041098", "UBERON:0013515", "GO:0032502", - "UPHENO:0052778", "CL:0001035", "UPHENO:0050034", + "UPHENO:0052778", "UBERON:0012128", "GO:0009790", - "UPHENO:0005433", - "UPHENO:0080393", - "UPHENO:0005642", "UPHENO:0068984", "UPHENO:0050108", - "HP:0040070", - "UPHENO:0076718", - "HP:0006501", + "UPHENO:0005433", + "UPHENO:0080393", "UBERON:0003466", "UBERON:0002471", "UBERON:0010741", + "HP:0000119", + "UPHENO:0081511", + "HP:0003974", "HP:0003953", - "UPHENO:0026023", - "UBERON:0003607", - "UBERON:0001423", + "UPHENO:0076718", "HP:0009825", "UBERON:0002405", "UBERON:0003606", - "HP:0003974", - "UPHENO:0062515", - "UPHENO:0087585", - "UPHENO:0079872", - "UPHENO:0009341", - "HP:0000119", - "UPHENO:0081511", + "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:0002386", + "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", - "UBERON:0003457", - "UBERON:0003135", - "HP:0009116", "GO:0042063", "HP:0000036", "UBERON:0011156", @@ -1990,161 +2004,175 @@ def autocomplete_response(): "UBERON:0003278", "UBERON:0003462", "UBERON:0001684", - "UPHENO:0061854", - "UPHENO:0084457", - "HP:0009118", - "HP:0011821", - "HP:0031816", - "UPHENO:0088116", - "UBERON:0000165", - "UBERON:0002514", - "UBERON:0007842", - "HP:0002692", - "UBERON:0004756", - "UBERON:0010313", - "UBERON:0003129", - "UBERON:0004742", - "UPHENO:0083646", - "UPHENO:0081314", - "UBERON:0000489", - "UBERON:0010323", - "HP:0030791", - "UBERON:0007375", - "UBERON:0012360", - "HP:0000163", - "UBERON:0002103", - "HP:0000309", - "UBERON:0004375", + "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", - "UPHENO:0080126", - "UBERON:0004765", + "UBERON:0013765", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0003074", + "UBERON:0005451", + "UBERON:0007272", "UBERON:0000467", - "UPHENO:0060026", - "UPHENO:0088162", - "UBERON:0004710", - "HP:0002031", + "UBERON:0004765", + "UBERON:0002101", "HP:0001167", - "UBERON:0004120", - "UPHENO:0008523", - "UPHENO:0006910", - "UBERON:0015021", - "UBERON:0001708", - "UPHENO:0003074", - "UBERON:0005451", - "UBERON:0000026", - "UBERON:0007272", - "HP:0009601", - "HP:0009121", - "UBERON:0000015", - "HP:0000812", - "UPHENO:0086635", - "UBERON:0007196", + "HP:0000377", + "UPHENO:0076803", + "UBERON:0015212", + "UPHENO:0087478", + "HP:0000078", + "UBERON:0003690", + "UPHENO:0018426", + "HP:0040064", + "UPHENO:0080111", + "UBERON:0002097", + "HP:0000598", + "UPHENO:0041226", + "UPHENO:0082129", + "UBERON:0000020", + "HP:0011842", + "UPHENO:0069196", + "UPHENO:0076760", + "UPHENO:0086595", + "UBERON:0001691", + "UPHENO:0084763", + "UPHENO:0018414", + "UPHENO:0080114", + "HP:0000234", + "UBERON:0000062", + "HP:0040072", + "UBERON:0010912", + "UBERON:0008001", + "HP:0011282", + "UBERON:0002204", + "UBERON:0003458", + "CL:0000988", + "UBERON:0002413", + "UBERON:0003103", + "UPHENO:0020584", + "UBERON:0005434", + "UBERON:0002529", + "UBERON:0006077", + "UPHENO:0002443", + "HP:0025033", + "UBERON:0015007", + "HP:0000316", "UBERON:0010363", + "UPHENO:0002813", + "GO:0044237", "CL:0000329", "UBERON:0001474", "HP:0001321", "GO:0006259", "UPHENO:0087806", "HP:0000708", - "GO:0044237", - "UPHENO:0002813", - "HP:0011282", - "UBERON:0002204", - "UBERON:0008001", - "UBERON:0001440", - "HP:0025668", - "UPHENO:0076739", "UPHENO:0087950", "HP:0000001", "UBERON:0006072", "HP:0008684", "UPHENO:0081788", - "UBERON:0002101", "UBERON:0002412", "UPHENO:0002828", - "UBERON:0003458", "UBERON:0002090", "UPHENO:0084761", "UBERON:0034925", "UBERON:0011138", - "UBERON:0002513", "UPHENO:0084012", "GO:0048468", "GO:0031323", - "UBERON:0006077", - "UPHENO:0002443", - "HP:0025033", - "CL:0000988", - "UBERON:0002413", - "UBERON:0003103", - "UBERON:0005434", - "UBERON:0002529", - "UBERON:0011582", + "UBERON:0002513", + "UBERON:0015203", + "UPHENO:0080325", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000812", + "UPHENO:0086635", + "UBERON:0007196", + "HP:0025668", + "UPHENO:0076739", + "GO:0042552", + "UPHENO:0049700", + "HP:0005927", + "BFO:0000002", + "HP:0000736", + "HP:0012639", + "UBERON:0006800", + "UPHENO:0069249", + "UPHENO:0076692", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0002844", + "UBERON:0010364", + "UBERON:0019231", + "UBERON:0007914", + "UPHENO:0087924", "GO:0050896", - "HP:0040072", - "UBERON:0010912", - "UBERON:0015007", - "HP:0000316", - "HP:0011842", + "UBERON:0011582", + "UPHENO:0081095", + "UBERON:0010314", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0084928", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0080079", + "HP:0011844", + "UBERON:0004709", + "UBERON:0011584", + "UBERON:0004923", + "UPHENO:0080382", + "HP:0001000", + "GO:0010556", + "PR:000050567", + "UBERON:0001711", + "GO:0009890", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0002903", + "UPHENO:0081783", + "UBERON:0002100", + "HP:5200044", + "GO:0031049", + "UBERON:0002075", + "GO:0090304", + "UBERON:0000060", + "UPHENO:0002332", "CL:0000764", "UPHENO:0087089", "UPHENO:0003085", - "GO:0022010", - "UPHENO:0087563", - "UPHENO:0005016", - "HP:0001883", - "HP:0000470", - "UPHENO:0086589", - "UPHENO:0076791", - "HP:0200006", - "UBERON:0000033", - "UBERON:0015001", - "HP:0001155", - "HP:0002086", - "UPHENO:0046571", - "HP:0000377", - "UPHENO:0076803", - "UBERON:0015203", - "UPHENO:0080325", - "UPHENO:0075195", - "UBERON:0000020", - "HP:0002795", - "UBERON:0001434", - "HP:0007360", - "UPHENO:0075878", - "GO:0048856", - "UPHENO:0072194", - "UPHENO:0080187", - "UBERON:0013702", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0084763", - "UPHENO:0018414", - "UBERON:0034923", - "HP:0040064", - "UPHENO:0080111", - "UBERON:0002097", - "HP:0000598", - "UPHENO:0041226", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UPHENO:0087478", - "UPHENO:0080165", - "UPHENO:0081091", - "UPHENO:0069196", - "HP:0000951", - "RO:0002577", - "UBERON:0010703", - "UBERON:0000955", - "UPHENO:0020584", - "UPHENO:0080114", - "HP:0000234", + "HP:0000437", + "GO:0006139", + "HP:0002664", + "UPHENO:0076723", + "UPHENO:0055730", + "UBERON:0034929", + "UPHENO:0087907", + "GO:0009987", "HP:0025032", "UPHENO:0026984", "HP:0031703", @@ -2155,116 +2183,138 @@ def autocomplete_response(): "HP:0011297", "UBERON:0011159", "GO:0071704", + "UPHENO:0050113", + "UPHENO:0025708", + "HP:0000929", + "GO:0034641", + "UPHENO:0031839", + "UPHENO:0001003", + "UBERON:0006717", + "BFO:0000003", + "UPHENO:0080171", "CL:0000000", - "UPHENO:0002803", "UBERON:0005172", + "UPHENO:0002803", "UPHENO:0002934", "UPHENO:0004536", - "PR:000050567", - "GO:0010556", - "UBERON:0001711", - "BFO:0000003", - "UPHENO:0080171", - "UPHENO:0076703", - "HP:0000582", - "HP:0002664", - "HP:0000437", - "GO:0006139", - "UPHENO:0031839", + "UBERON:0003113", + "HP:0002778", + "GO:0031324", + "UPHENO:0087510", + "UBERON:5002544", + "UBERON:0001130", + "UBERON:0000465", + "HP:0003220", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", "UPHENO:0084007", "GO:0031052", + "PATO:0000001", + "UPHENO:0080110", "HP:0000357", "UPHENO:0018424", - "UBERON:0003975", - "UPHENO:0080099", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "UPHENO:0005986", "UBERON:0004456", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0075902", + "UPHENO:0015280", + "GO:0016043", + "HP:0012758", + "HP:0002011", + "UPHENO:0074575", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", "GO:0050789", - "HP:0011844", - "UPHENO:0080079", - "UBERON:0004709", - "UBERON:0005174", - "HP:5200045", - "UPHENO:0002433", - "UBERON:0002355", - "UBERON:0003947", - "UBERON:0000465", - "UBERON:0001130", - "UBERON:0010000", - "UPHENO:0012541", - "UPHENO:0080585", - "GO:0010605", - "UBERON:0002387", + "GO:0005623", + "HP:0011446", + "UBERON:0004119", + "UPHENO:0082682", + "UBERON:0001016", + "HP:0000582", + "UPHENO:0076703", + "GO:0046483", + "UPHENO:0084766", "BFO:0000004", "UBERON:0008785", - "UPHENO:0050121", + "GO:0008152", + "UPHENO:0087501", + "UPHENO:0076800", + "GO:0006725", + "GO:0071824", + "UBERON:0010313", + "GO:0065007", + "GO:0048731", + "GO:0031327", + "UPHENO:0075195", + "HP:0000152", + "HP:0000356", + "UPHENO:0069110", + "UPHENO:0014240", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0081566", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0059829", + "UBERON:0001690", + "UPHENO:0009396", + "UPHENO:0076752", + "UBERON:0002105", + "UPHENO:0050116", + "UPHENO:0050021", + "UBERON:0012477", + "UPHENO:0001005", + "GO:0010558", + "NBO:0000313", "UBERON:0006983", "GO:0008150", "UBERON:0002371", "UPHENO:0075997", - "UPHENO:0081095", - "UBERON:0010314", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0002844", - "UBERON:0010364", - "UBERON:0019231", - "UBERON:0001137", + "BFO:0000040", + "UBERON:0001442", + "UPHENO:0074584", + "UPHENO:0086589", + "HP:0000470", + "UPHENO:0076791", + "HP:0200006", + "GO:0019222", + "UBERON:0004086", + "UBERON:0000153", + "HP:0008771", + "UPHENO:0049873", + "GO:0010629", + "UBERON:0000033", "UPHENO:0001002", - "UBERON:0007914", - "UPHENO:0087924", - "UPHENO:0050113", - "GO:0009889", - "HP:0000008", - "UPHENO:0002448", + "UBERON:0001137", "GO:0050794", "UBERON:0000474", "HP:0025354", - "GO:0010558", - "NBO:0000313", - "UPHENO:0001005", - "HP:0008771", - "UPHENO:0049873", - "UBERON:0004086", - "UBERON:0000153", - "UPHENO:0069249", - "UPHENO:0076692", - "UPHENO:0081435", - "HP:0001760", - "UPHENO:0041041", - "UPHENO:0049587", - "BFO:0000015", - "HP:0000736", - "BFO:0000002", - "HP:0012639", - "UBERON:0006800", - "UPHENO:0080110", - "PATO:0000001", - "UPHENO:0084928", - "UPHENO:0063565", - "UPHENO:0026028", - "GO:0042552", - "UPHENO:0049700", - "HP:0005927", - "UPHENO:0052178", - "HP:0008551", - "HP:0005922", - "HP:0001317", - "UBERON:0004175", - "HP:0011024", - "UBERON:0011216", - "UBERON:0006333", - "UBERON:0005178", - "GO:0007610", - "UPHENO:0002332", - "UBERON:0002100", - "HP:5200044", - "UPHENO:0004523", + "GO:0009889", + "HP:0000008", + "UPHENO:0002448", + "UPHENO:0050121", + "UPHENO:0081119", + "UPHENO:0076730", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0074572", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "GO:0090304", - "UBERON:0000060", - "GO:0009890", + "UPHENO:0004523", + "UBERON:0013701", + "GO:0032501", + "UPHENO:0026506", + "HP:0012638", "HP:0012210", "UBERON:0008962", "UBERON:0008907", @@ -2272,217 +2322,175 @@ def autocomplete_response(): "UPHENO:0002595", "UBERON:0004122", "UPHENO:0079826", + "UPHENO:0068971", + "UPHENO:0008668", "HP:0000089", "UBERON:0001444", "UPHENO:0018390", "HP:0000077", "UBERON:0002199", - "UBERON:0003113", - "HP:0002778", - "UPHENO:0025708", - "HP:0000929", - "GO:0034641", - "HP:0002973", - "HP:0001172", - "UBERON:0011676", - "HP:0011446", - "UBERON:0004119", - "UPHENO:0082682", - "UBERON:0001016", - "UBERON:0004111", - "UBERON:0011137", - "UPHENO:0080377", - "GO:0005623", - "UBERON:0012141", - "NCBITaxon:33208", - "HP:0011017", - "GO:0065007", - "UPHENO:0086172", - "UBERON:0012477", - "HP:0012638", - "HP:0000356", - "UPHENO:0069110", - "UPHENO:0014240", - "HP:0001939", - "UPHENO:0050845", - "UPHENO:0087846", - "UBERON:0001555", - "UPHENO:0059829", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", + "UPHENO:0012541", + "UPHENO:0080585", + "GO:0010605", + "UBERON:0002387", + "UPHENO:0002880", + "UBERON:0012475", + "UBERON:0010000", "UPHENO:0049622", - "HP:0003220", - "UPHENO:0001001", - "HP:0002817", - "UPHENO:0075902", - "UPHENO:0015280", - "GO:0016043", - "HP:0012758", - "HP:0002011", - "UPHENO:0074575", - "GO:0008152", - "GO:0019222", + "UPHENO:0041041", + "UPHENO:0049587", + "BFO:0000015", "UPHENO:0063639", "GO:0006325", - "GO:0048731", - "GO:0031327", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0026183", - "UPHENO:0056072", - "UPHENO:0050116", - "HP:0000174", - "UPHENO:0002896", - "GO:0043933", - "HP:0000079", - "UPHENO:0026128", - "GO:0048523", - "GO:0010629", - "UPHENO:0050021", - "GO:0071824", - "GO:0031324", - "UBERON:0011584", - "UBERON:0004923", - "UPHENO:0080382", - "HP:0001000", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001690", - "UPHENO:0009396", - "UPHENO:0076752", - "UBERON:0002105", - "UBERON:0013701", - "GO:0032501", - "UPHENO:0026506", - "UBERON:0011595", - "UBERON:0004288", - "UPHENO:0002830", - "BFO:0000141", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0081783", - "UPHENO:0002903", - "UBERON:0000062", + "UBERON:0002428", + "UPHENO:0054957", + "GO:0008366", + "HP:0000752", + "HP:0009892", + "GO:0009892", + "UPHENO:0076785", + "UBERON:0001456", + "GO:0010468", + "UPHENO:0000541", + "UPHENO:0081790", "UPHENO:0081099", "UPHENO:0049586", - "UPHENO:0081790", - "UPHENO:0082129", - "HP:0001511", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0000152", - "UPHENO:0005986", - "GO:0009987", - "UBERON:0034929", - "UPHENO:0087907", - "UPHENO:0076730", - "UPHENO:0081119", - "HP:0000078", - "UBERON:0003690", - "UPHENO:0018426", + "HP:0001317", + "UBERON:0004175", + "HP:0011024", + "UBERON:0011216", + "UBERON:0006333", + "UBERON:0005178", + "GO:0007610", + "HP:0000174", + "GO:0043933", + "UPHENO:0002896", + "HP:0000951", + "RO:0002577", + "UBERON:0010703", + "UBERON:0000955", + "GO:0022010", + "UPHENO:0087563", + "UPHENO:0005016", + "HP:0001883", "UBERON:0011158", "UBERON:0000974", "UPHENO:0086628", - "UBERON:0002428", - "UPHENO:0054957", - "GO:0008366", - "HP:0000752", - "HP:0009892", - "GO:0009892", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0010468", - "UPHENO:0000541", + "UPHENO:0080187", + "UBERON:0013702", + "UBERON:0034923", + "UPHENO:0002830", + "UBERON:0011595", + "UBERON:0004288", + "HP:5200045", + "UPHENO:0002433", + "UBERON:0002355", + "UBERON:0003947", + "UBERON:0005174", + "UBERON:0015001", + "HP:0001155", + "UBERON:0004111", + "UPHENO:0080377", + "UBERON:0011137", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0052178", + "HP:0008551", + "HP:0005922", + "HP:0002795", + "UBERON:0001434", + "HP:0007360", + "UPHENO:0075878", + "GO:0048856", + "UPHENO:0072194", + "HP:0009121", + "UBERON:0000015", + "UBERON:0002091", "HP:0002032", "UPHENO:0086633", "UPHENO:0087974", "HP:0045060", + "UPHENO:0076724", + "UPHENO:0081451", + "HP:0008772", + "GO:0048519", + "UBERON:0006058", "UBERON:0010538", "UBERON:0011249", - "UBERON:0010712", - "UBERON:0002091", + "UBERON:0003975", + "UPHENO:0080099", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0021791", + "UBERON:5002389", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0001440", "UPHENO:0076727", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "HP:0000163", + "UBERON:0002103", + "UPHENO:0080126", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UBERON:0004120", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", "UBERON:0001460", "GO:0040007", "UBERON:0019221", "UBERON:0004381", "UPHENO:0011498", - "UBERON:0013765", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0010708", - "UPHENO:0026628", - "UBERON:0000019", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0021791", - "UBERON:5002389", - "GO:0048519", - "HP:0008772", - "UBERON:0006058", - "UPHENO:0076723", - "UPHENO:0055730", - "UPHENO:0002905", - "UBERON:0012475", - "UPHENO:0002880", "UPHENO:0085068", "UBERON:0004708", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "UPHENO:0087510", - "UBERON:5002544", - "UBERON:0001062", - "UBERON:0005881", - "UBERON:0010758", - "UBERON:0002193", - "UPHENO:0056237", + "UPHENO:0046571", + "HP:0002086", + "UPHENO:0060026", "UBERON:0007827", "UBERON:0002470", "UBERON:0012139", - "UPHENO:0087349", - "UBERON:0000468", - "UBERON:0002389", - "UPHENO:0085144", - "HP:0000238", - "UPHENO:0087006", - "UPHENO:0076724", - "UPHENO:0081451", - "HP:0005107", "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", - "HP:0008517", - "UBERON:0006314", + "UBERON:0005173", + "UBERON:0003463", "UPHENO:0002536", "HP:0004590", "HP:0030669", + "HP:0005107", "HP:0008678", "GO:0006996", "UBERON:0005179", "UBERON:0003828", - "GO:0060255", - "UBERON:0006075", - "UPHENO:0087501", - "GO:0006725", - "UPHENO:0076800", - "UPHENO:0076695", - "UBERON:0005173", - "UBERON:0003463", - "UBERON:0005177", - "UPHENO:0049990", - "UPHENO:0020659", - "HP:0012243", - "HP:0008518", + "UBERON:0001558", + "HP:0025031", + "UPHENO:0076735", + "UBERON:0000463", "CL:0000081", "UBERON:0000064", "GO:0031326", @@ -2494,82 +2502,55 @@ def autocomplete_response(): "UPHENO:0021517", "UPHENO:0081784", "UPHENO:0000543", - "UBERON:0001558", - "UPHENO:0076735", - "UBERON:0000463", + "HP:0002575", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", + "UPHENO:0020748", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", "UBERON:0004247", "UBERON:0000117", - "HP:0011793", - "HP:0002575", - "UBERON:0001005", - "UBERON:0000072", - "UPHENO:0084448", - "UBERON:0001245", - "UBERON:0012140", - "UBERON:0005473", - "UBERON:0000065", - "UBERON:0007811", - "HP:0012252", "UPHENO:0081786", "UBERON:0010913", "UBERON:0001043", "HP:0009777", "UBERON:0004921", "UPHENO:0080662", + "UBERON:0007811", + "HP:0012252", "UPHENO:0075696", "UBERON:0004908", - "HP:0005607", - "HP:0025031", - "HP:0000347", - "UBERON:0005409", - "UPHENO:0086700", - "UPHENO:0020748", - "UBERON:0003126", "HP:0000464", "UBERON:0000915", "UBERON:0005181", "UBERON:0005944", "UPHENO:0003020", - "UBERON:0004768", - "UPHENO:0081141", - "UPHENO:0069523", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0076766", - "UPHENO:0080300", - "UPHENO:0009382", - "UPHENO:0088047", + "UBERON:0005409", "UPHENO:0025945", "UBERON:0006048", "UPHENO:0021304", "HP:0001574", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "HP:0005607", + "UBERON:0001005", + "UPHENO:0056212", "HP:0000153", "UBERON:0001359", "HP:0000104", "UPHENO:0082875", "HP:0011355", - "UPHENO:0056212", - "UPHENO:0081598", - "UBERON:0000993", - "UBERON:0002102", - "UPHENO:0003811", - "UPHENO:0025211", - "UPHENO:0087548", - "UBERON:0000061", - "UBERON:0035639", - "GO:1901360", - "UPHENO:0056333", - "UBERON:0002616", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "HP:0012443", "UPHENO:0088185", - "UBERON:0002544", - "UBERON:0007779", - "GO:0021782", - "UPHENO:0087433", - "UBERON:0005358", "UPHENO:0005597", "UBERON:0005282", "UPHENO:0069391", @@ -2577,144 +2558,162 @@ def autocomplete_response(): "UBERON:0001270", "UBERON:0005281", "UBERON:0000154", - "UPHENO:0088168", - "UBERON:0004451", - "UPHENO:0076805", - "UBERON:0000047", - "GO:0007275", - "HP:0000924", - "UBERON:0004121", "UBERON:0000475", "UPHENO:0076702", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", "HP:0012759", "HP:0007018", "HP:0002118", "HP:0006503", "UBERON:0002104", - "UPHENO:0049367", + "UPHENO:0025211", + "UPHENO:0087548", + "GO:1901360", + "UBERON:0000061", + "UBERON:0035639", + "UPHENO:0056333", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", "HP:0000369", "HP:0000118", "UBERON:0000978", + "UPHENO:0049367", "HP:0000465", - "UPHENO:0080221", - "BFO:0000001", - "UPHENO:0002635", - "HP:0001034", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", - "UBERON:0000481", - "HP:0000957", - "HP:0011121", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0074589", "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", - "UPHENO:0062527", - "UPHENO:0086824", - "UBERON:0000161", "HP:0009380", "UPHENO:0074228", "GO:0006807", "UPHENO:0002839", - "UPHENO:0087339", - "HP:0034915", - "HP:0006265", - "UPHENO:0078606", - "HP:0002023", - "UPHENO:0025100", - "HP:0000492", - "UPHENO:0076760", - "UBERON:0001691", - "UPHENO:0086595", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", "UBERON:0034921", - "UBERON:0001004", - "HP:0000315", - "UPHENO:0002910", "HP:0032039", "HP:0000422", "UPHENO:0086932", "UPHENO:0086699", "UBERON:0001819", - "HP:0010938", - "GO:0043170", - "HP:0008050", + "UPHENO:0087472", + "UBERON:0001004", + "HP:0000315", + "HP:0000271", + "UPHENO:0002910", + "UBERON:0000970", + "UBERON:0004742", + "UPHENO:0025100", + "HP:0000492", "UPHENO:0003058", "UBERON:0000025", "UBERON:0004088", - "UBERON:0000970", - "UPHENO:0087472", + "HP:0010938", + "GO:0043170", + "HP:0008050", "UPHENO:0076761", - "HP:0000271", - "HP:0001510", "HP:0001507", + "HP:0001510", "UPHENO:0049874", - "UBERON:5001463", - "UPHENO:0021474", "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", - "UBERON:0010230", - "UPHENO:0002598", - "HP:0100886", - "HP:0011400", - "HP:0012372", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0072195", - "HP:0002814", "HP:0001776", - "HP:0005656", - "UPHENO:0081575", "UBERON:0010709", - "HP:0000925", - "UBERON:0008784", + "HP:0005656", + "UPHENO:0072195", + "HP:0002814", "UPHENO:0050008", "HP:0006496", "UPHENO:0003070", - "HP:0011458", - "HP:0002818", - "GO:0071840", - "HP:0002813", - "HP:0002921", - "HP:0000277", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", + "UPHENO:0081575", + "HP:0000925", + "UBERON:0008784", + "HP:0002692", + "UBERON:0004756", ], "has_phenotype_closure_label": [ "decreased size of the kidney", - "tissue", "Bone marrow hypocellularity", "bone marrow", - "abnormal immune system", - "Abnormality of bone marrow cell morphology", - "bone cell", "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", - "snout", "increased width of the anatomical entity in independent continuant", - "abnormal nasal bridge morphology", - "increased width of anatomical entity", + "snout", "Abnormality of globe size", "Aplasia/Hypoplasia affecting the eye", - "abnormal biological_process in central nervous system", "central nervous system myelination", "gliogenesis", "decreased size of the eyeball of camera-type eye", @@ -2722,173 +2721,178 @@ def autocomplete_response(): "oligodendrocyte development", "nervous system development", "glial cell differentiation", - "cellular developmental process", "abnormal myelination in independent continuant", - "abnormal central nervous system 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", - "absent anatomical entity in the renal system", - "abnormal kidney morphology", - "cavitated compound organ", - "abnormal renal system", + "cellular developmental process", "abdomen element", "Abnormality of the kidney", - "Abnormality of the upper urinary tract", - "renal system", + "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 cell morphology", + "abnormal hematopoietic system", "hematopoietic system", + "abnormal cell morphology", "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal erythrocyte morphology", "oxygen accumulating cell", "hematopoietic cell", - "abnormal hematopoietic system", - "olfactory organ", - "curvature anatomical entity", + "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", - "nose", - "flat nose tip", + "olfactory organ", + "curvature anatomical entity", "Abnormal external nose morphology", - "abnormal 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", - "external male genitalia", - "Abnormal external genitalia", "abnormal penis", "male reproductive system", - "Abnormal renal morphology", - "abnormal external genitalia", - "decreased size of the external male genitalia", - "Orofacial cleft", - "Abnormal oral cavity morphology", - "abnormal oral cavity morphology", - "abnormal midface morphology", "anatomical cavity", - "Craniofacial cleft", "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", - "root", - "abnormal cerebellum 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", - "delayed myelination", - "abnormal hindbrain morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", "abnormal metencephalon morphology", - "Eumetazoa", - "Abnormal metencephalon morphology", - "regional part of brain", - "cerebellum hypoplasia", "Abnormal midface morphology", "regional part of nervous system", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Cerebellar hypoplasia", + "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", - "Aplasia of the uterus", - "female organism", - "reproductive structure", - "aplasia or hypoplasia of uterus", "bone marrow cell", "internal female genitalia", - "Abdominal symptom", - "Abnormal reproductive system morphology", "Wide nasal bridge", "abnormal internal female genitalia morphology", + "female organism", "abnormal female reproductive system", - "female reproductive system", - "Abnormal morphology of female internal genitalia", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "abnormal uterus", - "genitourinary 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", - "Abnormality of the uterus", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "absent external ear in the head", + "female reproductive system", + "aplasia or hypoplasia of uterus", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "absent anatomical entity in the head", "absent external ear", "Anotia", - "absent anatomical entity in the head", - "Hypoplastic male external genitalia", - "anatomical structure development", - "decreased developmental process", - "decreased qualitatively developmental process", + "absent external ear in the head", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", "decreased embryo development", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal embryo development", - "Intrauterine growth retardation", "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", - "Aplasia/Hypoplasia of the radius", - "Aplasia/hypoplasia involving forearm bones", - "zeugopod", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "arm bone", - "forelimb long bone", + "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", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", + "limb long bone", + "Aplasia/hypoplasia involving forearm bones", "embryo development", "abnormal radius bone morphology", "Aplasia involving forearm bones", - "Aplasia involving bones of the extremities", - "limb long bone", "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", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "forelimb zeugopod skeleton", - "abnormal facial skeleton morphology", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Hypoplastic facial bones", + "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", @@ -2896,57 +2900,103 @@ def autocomplete_response(): "immune system", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "Abnormality of the genital system", - "intramembranous bone", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of skull", - "Renal hypoplasia", - "bone of lower jaw", - "mandible hypoplasia", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "abnormal mouth", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "Absent thumb", - "abnormal autopod region morphology", - "subdivision of organism along appendicular axis", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", + "Abnormal mandible morphology", + "paired limb/fin segment", "multi-limb segment region", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "appendage", - "Abnormal digit morphology", - "cellular process", - "Aplasia/Hypoplasia of fingers", - "delayed biological_process in independent continuant", - "digitopodium 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", - "Hyperactivity", + "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", - "abnormal vertebral column", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", + "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", @@ -2954,122 +3004,124 @@ def autocomplete_response(): "Abnormality of globe location", "Aplasia/Hypoplasia involving the central nervous system", "Short neck", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "postcranial axial skeleton", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "cervical vertebra", - "organ system subdivision", - "Abnormality of the anus", - "system", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "skeletal element", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "membrane bone", - "abnormal cervical vertebra", - "dentary", + "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", - "skeleton", - "skeletal system", - "cervical vertebra endochondral element", - "decreased length of neck", "Abnormality of the eye", "abnormal pes morphology", - "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "segment of manus", - "protein-containing material entity", - "dorsum", - "cervical region", - "Abnormality of the vertebral column", - "Macule", - "decreased length of anatomical entity in independent continuant", - "abnormal size of anatomical entity", - "abnormal bone marrow cell", - "trunk", - "abnormal shape of continuant", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "external ear", - "Aplasia/Hypoplasia of the ear", - "sensory system", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of head or neck", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "Microtia", - "absent digit", - "Abnormal cellular phenotype", - "radius endochondral element", - "abnormal behavior", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "Abnormal forearm morphology", - "vertebra", - "Abnormal skeletal morphology", - "forelimb", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "material anatomical entity", + "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", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Reduced impulse control", - "abnormal location of external ear", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "craniocervical region", + "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", - "Talipes", - "Webbed neck", "quality", - "behavior process", "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", - "manual digit 1", "regulation of metabolic process", + "manual digit 1", "autopodial extension", "abnormal face", "upper urinary tract", @@ -3078,325 +3130,271 @@ def autocomplete_response(): "manual digitopodium region", "Abnormal respiratory system morphology", "cervical region of vertebral column", - "pelvic region element", + "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", - "organic cyclic compound metabolic process", + "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", - "pelvic complex", - "abnormal growth", - "abnormal anatomical entity", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Abnormal axial skeleton morphology", + "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 chromatin organization", - "Chromosome breakage", - "process", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "Atypical behavior", - "cellular metabolic process", - "simple eye", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "subdivision of skeleton", - "endochondral bone", + "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", - "forelimb zeugopod bone", - "nervous system", - "negative regulation of biological process", - "biological_process", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "ensheathment of neurons", - "regulation of cellular process", - "posterior region of body", - "pes", - "aplasia or hypoplasia of external ear", - "Abnormal tracheobronchial morphology", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "abnormal nervous system", - "chromatin organization", - "Reduced attention regulation", - "abnormal shape of external ear", - "abnormal limb bone morphology", - "abnormality of nervous system physiology", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "absent anatomical entity in the limb", - "Abnormal mandible morphology", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "Micrognathia", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Depressed nasal tip", - "Abnormality of mental function", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "metabolic process", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "abnormal opening of the anatomical entity", - "dorsal region element", - "body proper", - "abnormal primary metabolic process", - "neck", + "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", - "subdivision of vertebral column", "decreased size of the mandible", + "subdivision of vertebral column", "absent manual digit", "abnormal development of anatomical entity", "Abnormal thumb morphology", "subdivision of trunk", - "abnormal limb bone", - "sense organ", - "Abnormal nervous system morphology", - "limb", - "increased size of the anatomical entity", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "negative regulation of macromolecule biosynthetic process", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "lateral structure", - "regulation of biological process", + "axon ensheathment in central nervous system", + "eye", + "compound organ", "decreased qualitatively biological_process", "anatomical entity", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "abnormal cellular process", - "acropodium region", - "abnormally increased number of brain ventricle in the independent continuant", - "Abnormal anus morphology", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "secondary palate", - "organism", - "irregular bone", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "Renal agenesis", - "abnormal respiratory system", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "cellular component organization", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", "digit", - "anterior region of body", - "aplastic anatomical entity", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "Growth abnormality", - "axial skeletal system", - "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", - "Abnormality of metabolism/homeostasis", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "main body axis", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "eyelid", - "Abnormality of the ear", - "orbital region", - "protein-DNA complex organization", - "vestibulo-auditory system", - "non-connected functional system", - "Aplasia/hypoplasia of the extremities", - "forelimb bone", - "anatomical entity hypoplasia", - "head", - "abnormal eyelid morphology", - "manus", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "ear", - "organism subdivision", + "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", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "appendage girdle complex", - "subdivision of head", - "Abnormality of brain morphology", + "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", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", "dermal skeleton", "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", + "anatomical conduit", + "abnormal limb morphology", "abdomen", "manual digit 1 plus metapodial segment", "trunk bone", "bone of appendage girdle complex", "anatomical wall", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "abnormal arm", "arm", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "dermatocranium", - "pectoral complex", - "paired limb/fin segment", - "axon ensheathment in central nervous system", - "compound organ", - "eye", - "cell differentiation", - "appendicular skeletal system", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "appendicular skeleton", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "developmental process", - "negative regulation of metabolic process", - "abdominal segment bone", - "manual digit 1 or 5", - "autopod region", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "anatomical conduit", - "abnormal limb morphology", "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", - "fused sacrum hypoplasia", - "abnormal fused sacrum morphology", + "Aplasia/Hypoplasia of the sacrum", "Global developmental delay", "biological regulation", "abdominal segment of trunk", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", + "bony pelvis", "bone element hypoplasia in independent continuant", "abnormal penis morphology", "hindlimb", - "aplasia or hypoplasia of fused sacrum", - "Aplasia/Hypoplasia of the sacrum", - "Delayed CNS myelination", - "fused sacrum", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "bony pelvis", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", "Aplasia/Hypoplasia of facial bones", "musculoskeletal system", "abnormal cellular metabolic process", "Hypoplastic sacrum", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", + "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", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "abnormality of respiratory system physiology", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal tracheal 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", @@ -3405,40 +3403,38 @@ def autocomplete_response(): "programmed DNA elimination", "digestive system", "subdivision of tube", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "Aplasia/Hypoplasia of the external ear", - "trunk region element", - "endoderm-derived structure", + "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", - "thoracic segment organ", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", + "respiratory tube", "abnormal nose tip morphology", "alimentary part of gastrointestinal system atresia", "respiratory tract", - "respiratory tube", "forelimb endochondral element", "primary metabolic process", "Abnormality of the skin", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "tube", - "respiratory airway", + "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", @@ -3447,142 +3443,146 @@ def autocomplete_response(): "delayed biological_process", "Abnormality of the cervical spine", "abnormal digestive system", - "cerebrospinal fluid", - "Abnormality of the head", - "organic substance metabolic process", - "abnormal pigmentation", + "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", - "Abnormality of the urinary system", - "abnormal anus morphology", - "Morphological central nervous system abnormality", - "organ component layer", "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", - "abnormally increased number of anatomical entity", "abnormal central nervous system morphology", "transudate", "Cafe-au-lait spot", "increased length of the anatomical entity", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", "myelination", "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal nervous system morphology", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "anatomical point", - "ventricle of nervous system", - "subdivision of organism along main body axis", - "dermal skeletal element", "Gastrointestinal atresia", "abnormal location of anatomical entity", "abnormal location of ear", "abnormal ocular adnexa", - "Decreased external ear position", "abnormal anatomical entity topology in independent continuant", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anatomical entity morphology", - "increased pigmentation", + "Decreased external ear position", "external nose", "changed biological_process rate", "increased biological_process in skin of body", "abnormal external ear", "increased biological_process", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Neurodevelopmental delay", - "abnormal skin of body", "increased size of the anatomical entity in independent continuant", "Abnormality of the integument", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "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", - "neural crest-derived structure", + "abnormal anatomical entity morphology", + "increased pigmentation", "Phenotypic abnormality", "increased pigmentation in skin of body", "abnormal hindlimb morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "abnormal anus", "abnormal response to stimulus", "abnormal closing of the anatomical entity", - "abnormal anus", "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", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "camera-type eye", "reproductive organ", "abnormal skull morphology", "anus atresia", "abnormal palpebral fissure", - "Abnormal ocular adnexa morphology", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "ocular adnexa", - "Abnormality of the face", "abnormal face morphology", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", + "ocular adnexa", + "camera-type eye", "delayed growth", - "increased anatomical entity length in independent continuant", "abnormal eyeball of camera-type eye", - "anatomical line", + "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", - "Talipes equinovarus", "Aplasia/hypoplasia of the uterus", "Hyperpigmentation of the skin", "Bilateral talipes equinovarus", - "flattened anatomical entity", - "abnormal manus", - "bone element hypoplasia in face", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", - "facial bone hypoplasia", + "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", - "aplasia or hypoplasia of mandible", - "abnormal head", - "jaw region", - "abnormal male reproductive system", - "abnormal mouth morphology", + "pectoral complex", + "dermatocranium", + "abnormal jaw skeleton morphology", + "facial bone hypoplasia", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", ], }, { @@ -3676,114 +3676,97 @@ def autocomplete_response(): ], "has_phenotype_count": 32, "has_phenotype_closure": [ - "UPHENO:0041226", "HP:0000085", + "UPHENO:0041465", "UPHENO:0082444", + "UPHENO:0041226", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0041465", - "HP:0003254", - "HP:0003213", - "UPHENO:0049964", - "UPHENO:0051124", "GO:0051716", "GO:0006950", - "GO:0051319", + "HP:0003213", + "UPHENO:0051124", + "HP:0003254", + "UPHENO:0049964", "GO:0007049", - "GO:0050954", - "UPHENO:0041075", - "GO:0007600", - "HP:0000598", - "GO:0007605", + "GO:0051319", "UPHENO:0050625", "HP:0000364", + "GO:0007605", "UPHENO:0005518", + "HP:0000598", + "GO:0050954", "UPHENO:0052970", "UBERON:0002105", - "NBO:0000338", - "UPHENO:0049586", - "HP:0000708", - "UPHENO:0049622", + "UPHENO:0041075", + "GO:0007600", "GO:0007610", - "HP:0000486", - "UBERON:0006800", - "BFO:0000141", + "HP:0000708", "HP:0000549", - "HP:0000496", + "HP:0000486", + "UPHENO:0049622", "NBO:0000444", + "HP:0000496", "UBERON:0010222", - "UPHENO:0079828", "UPHENO:0080585", - "GO:0050896", + "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:0080351", "UPHENO:0075159", "HP:0000081", "UPHENO:0075787", + "HP:0002664", + "HP:0011793", "HP:0001909", "HP:0004377", - "HP:0011793", - "HP:0002664", - "UBERON:0000477", - "GO:0008015", + "HP:0002597", "HP:0001892", "HP:0011029", - "HP:0002597", "UPHENO:0002678", - "GO:0003013", + "UBERON:0000477", "HP:0000978", "UPHENO:0051097", "HP:0001933", "UBERON:0007798", - "UPHENO:0084447", + "GO:0003013", + "GO:0008015", + "HP:0009943", + "HP:0011314", "HP:0009602", + "UPHENO:0087369", + "HP:0009942", "UBERON:0003221", "UBERON:0012357", - "HP:0011314", - "HP:0009943", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0087369", - "HP:0009942", "UPHENO:0021800", + "UPHENO:0084447", "GO:0022403", "UBERON:0004249", "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "GO:0010556", - "GO:0031326", - "GO:0009890", - "HP:0011276", - "UBERON:0005897", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "GO:0005623", + "UPHENO:0049873", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0010629", "GO:0065007", "UPHENO:0080581", "UPHENO:0050021", - "GO:0010629", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", "UPHENO:0000541", "UBERON:0001436", "GO:0010468", @@ -3791,151 +3774,174 @@ def autocomplete_response(): "GO:0010558", "GO:0031327", "GO:0006325", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", + "UPHENO:0049700", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "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", - "UPHENO:0049873", - "GO:0008152", - "HP:0000365", - "GO:0009987", + "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:0001263", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0082794", "GO:0040007", "UPHENO:0049874", + "UPHENO:0010763", "UBERON:0010543", "HP:0001507", - "UPHENO:0082794", - "UPHENO:0010763", "UPHENO:0054299", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0020041", - "HP:0000271", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", "UPHENO:0069523", - "UBERON:0000020", - "UPHENO:0087472", + "UPHENO:0080209", "GO:0033554", "UBERON:0000970", "UBERON:0001456", - "UBERON:0004088", - "HP:0000568", - "UBERON:0004456", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", "UPHENO:0087924", "HP:0100887", "HP:0000478", "UPHENO:0002910", + "UPHENO:0020041", + "HP:0000271", "HP:0011025", "HP:0000315", - "UPHENO:0080209", - "HP:0001896", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", "HP:0004312", + "HP:0001896", "UPHENO:0086002", "UPHENO:0049588", "CL:0000558", "UPHENO:0046505", + "UPHENO:0088186", "HP:0009381", - "UPHENO:0012541", "UPHENO:0002433", "CL:0000233", - "GO:0008150", - "UPHENO:0020888", + "UPHENO:0026506", "UBERON:0015061", "UBERON:0003129", - "UPHENO:0026506", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "NCBITaxon:2759", - "UPHENO:0084448", + "UBERON:0010708", "UBERON:0012139", - "UPHENO:0082761", - "CL:0000738", - "HP:0000027", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UBERON:0010363", - "HP:0002977", - "HP:0009777", - "UBERON:0010708", - "UBERON:0002204", - "UPHENO:0086700", - "UPHENO:0086019", "UBERON:0019221", "GO:0044848", "UBERON:0001460", "UBERON:0002513", "UBERON:0011138", "GO:0022414", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "HP:0045060", - "UPHENO:0086633", + "NCBITaxon:2759", "UBERON:0006717", "UPHENO:0001003", "UPHENO:0076810", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "CL:0000775", - "UPHENO:0088186", + "CL:0000225", "UBERON:0011582", "GO:0006996", "HP:0008678", "UPHENO:0085263", "UPHENO:0052178", - "CL:0000225", - "UBERON:0001440", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "GO:0003008", - "UBERON:0010538", - "HP:0001167", - "HP:0040064", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", + "UBERON:0002204", "UPHENO:0080300", "UPHENO:0009382", "UBERON:0004708", "UPHENO:0085068", "UPHENO:0021474", "UBERON:5001463", - "UBERON:0012140", - "UBERON:0005451", + "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", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", "UPHENO:0049952", "HP:0040068", "UPHENO:0002708", "UBERON:0012141", + "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", @@ -3945,19 +3951,18 @@ def autocomplete_response(): "GO:0034641", "HP:0000929", "HP:0010461", - "UBERON:0000153", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "HP:0012638", + "UPHENO:0053644", + "UBERON:8450002", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "UBERON:0003103", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0088321", "UPHENO:0049367", "UPHENO:0075997", "UBERON:0002371", @@ -3966,63 +3971,70 @@ def autocomplete_response(): "HP:0012373", "HP:0100542", "UBERON:0000916", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UPHENO:0085984", - "UBERON:0005173", - "UBERON:0005177", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", + "UPHENO:0002803", + "UBERON:0005172", + "CL:0001035", + "BFO:0000040", "UPHENO:0084766", "UBERON:0015212", - "BFO:0000040", - "BFO:0000004", - "UBERON:8450002", - "UPHENO:0053644", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", + "UPHENO:0059829", + "HP:0011991", "UBERON:0011250", "UPHENO:0086176", "UBERON:0010758", "UPHENO:0087846", - "UBERON:5006048", - "UBERON:0003133", - "UBERON:0003103", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UPHENO:0085984", "HP:0020047", "GO:0007276", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "GO:0032501", - "UBERON:0013701", + "HP:0001874", + "UPHENO:0076692", + "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", - "HP:0001874", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0063722", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0088335", - "HP:0000924", - "UBERON:0004121", + "UPHENO:0001002", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "UBERON:0008785", + "CL:0000255", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", "GO:0043170", "HP:0011961", "UPHENO:0077426", @@ -4031,12 +4043,6 @@ def autocomplete_response(): "UPHENO:0076724", "UPHENO:0081451", "UBERON:0002101", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", "HP:0000152", "GO:0048523", "HP:0000079", @@ -4044,266 +4050,256 @@ def autocomplete_response(): "UPHENO:0085330", "UPHENO:0076703", "HP:0003974", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UPHENO:0001002", - "UBERON:0000062", + "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:0005881", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:5002544", - "UPHENO:0087510", - "GO:0006281", - "BFO:0000002", - "HP:0012639", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0000467", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", + "UBERON:0008962", + "HP:0012210", + "UBERON:0001463", "HP:0001877", "UBERON:0002389", "UPHENO:0087349", "UBERON:0000468", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UBERON:0004120", - "HP:0005922", - "UBERON:0005178", - "UPHENO:0049701", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0012638", "UPHENO:0079876", "UPHENO:0053580", "UBERON:0011143", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "HP:0011991", - "UPHENO:0059829", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0087802", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0086016", + "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", - "UPHENO:0085371", - "HP:0025354", - "CL:0002242", - "UPHENO:0085405", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0080114", - "UPHENO:0005433", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0087427", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0002529", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UBERON:0003607", - "HP:0011844", - "HP:0007364", - "UPHENO:0080079", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0002219", - "UPHENO:0006910", - "UPHENO:0076805", - "UPHENO:0085189", "UBERON:0012475", "UPHENO:0002880", "HP:0001518", "HP:0100547", "HP:0032309", + "UPHENO:0087427", + "CL:0002242", + "UPHENO:0085405", "UPHENO:0078606", "HP:0006265", "UPHENO:0087123", - "UPHENO:0035025", - "UBERON:0000479", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", + "UPHENO:0087802", + "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", + "UBERON:0015001", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", + "UPHENO:0076805", + "UPHENO:0085189", "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", "HP:0000086", "CL:0000766", - "UBERON:0002091", - "UPHENO:0020584", + "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", - "UPHENO:0046624", - "UBERON:0004381", - "UPHENO:0011498", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0050108", - "HP:0100543", - "CL:0000408", - "GO:0007283", - "UPHENO:0075220", - "UPHENO:0087907", - "HP:0006501", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", + "UBERON:0001440", + "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", - "UPHENO:0086589", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", "UPHENO:0080377", "UBERON:0011137", "UBERON:0000489", "UBERON:0010323", - "UBERON:0002090", - "GO:0048232", - "UBERON:0001017", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0054970", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", "HP:0012758", "HP:0002011", "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0080362", - "BFO:0000001", - "UPHENO:0002635", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", "HP:0001626", - "UBERON:0001009", "UBERON:0000948", - "UPHENO:0005016", - "UBERON:0007100", - "NCBITaxon:6072", - "UPHENO:0076776", + "BFO:0000001", + "UPHENO:0002635", "UBERON:0000915", "UBERON:0005181", + "UPHENO:0080362", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0001009", "HP:0030680", - "UPHENO:0080221", + "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", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", "UBERON:0002102", "UPHENO:0003811", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "HP:0011121", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", "HP:0000002", "UPHENO:0076740", "HP:0000953", "UBERON:0004710", "UPHENO:0088162", - "UPHENO:0074589", "GO:0050794", "UPHENO:0085875", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001574", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", - "HP:0011028", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0003055", - "UBERON:0005156", - "UPHENO:0080126", - "UBERON:0015204", - "UPHENO:0003020", - "UBERON:0005944", - "UBERON:0000991", + "HP:0011121", "HP:0001903", "UPHENO:0004459", "UPHENO:0003116", - "UPHENO:0066972", - "HP:0000818", - "UBERON:0000990", - "HP:0008373", - "HP:0000118", + "UPHENO:0003055", "HP:0001876", + "HP:0000118", "UPHENO:0024906", "HP:0000078", - "UPHENO:0082875", + "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", @@ -4317,251 +4313,252 @@ def autocomplete_response(): "CL:0000232", "UBERON:0004375", "HP:0011873", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", "UPHENO:0087089", "CL:0000764", "UBERON:0001474", "CL:0000329", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000457", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", "UPHENO:0086045", "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0011584", - "UPHENO:0084987", "UPHENO:0085042", "HP:0012145", - "UPHENO:0084761", - "HP:0001872", + "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", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0086201", - "HP:0001000", - "UPHENO:0080382", - "GO:0003006", + "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", - "UPHENO:0052231", - "HP:0000028", "HP:0001627", "UPHENO:0049970", - "GO:0000003", - "HP:0000811", - "HP:0005918", - "HP:0012243", + "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", - "UBERON:0011676", "HP:0002973", + "UBERON:0011676", "HP:0000025", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0004288", "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", - "HP:0008669", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UPHENO:0079826", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", "UPHENO:0086635", "HP:0000240", "HP:0000812", "UBERON:0015021", "UBERON:0002386", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", + "UPHENO:0086198", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", "UBERON:0015063", "UPHENO:0078729", "UBERON:0000463", "UPHENO:0078452", - "UPHENO:0053298", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", + "HP:0005918", + "HP:0012243", + "UBERON:0013702", + "UPHENO:0080187", "UBERON:0000955", "UBERON:0010703", + "GO:0006725", + "UPHENO:0087501", "UBERON:0010912", "CL:0000094", "HP:0040072", - "UPHENO:0086956", - "GO:0071840", - "HP:0002813", - "HP:0002818", "UPHENO:0079872", "UPHENO:0009341", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0013702", - "UPHENO:0080187", + "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", - "UBERON:0001423", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", "UBERON:0010741", "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UPHENO:0005651", - "UPHENO:0076718", - "HP:0040070", - "UPHENO:0008668", - "UPHENO:0068971", - "UPHENO:0046411", + "UPHENO:0012541", "HP:0004325", "UPHENO:0031839", + "UPHENO:0046411", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "UPHENO:0008668", + "UPHENO:0068971", ], "has_phenotype_closure_label": [ - "shape anatomical entity", "Horseshoe kidney", + "shape anatomical entity", "3-D shape anatomical entity", "U-shaped anatomical entity", - "DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", "abnormal response to stress", + "DNA repair", + "response to stress", "abnormal cellular response to stress", "abnormal DNA repair", - "response to stress", - "cell cycle phase", + "Deficient excision of UV-induced pyrimidine dimers in DNA", "Abnormality of the cell cycle", "G2 phase", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormal ear", + "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", - "anatomical line", - "immaterial anatomical entity", - "Strabismus", - "abnormal response to stimulus", "response to stimulus", - "behavior process", - "abnormal eye movement", "eye movement", - "behavior", - "delayed biological_process", - "Short stature", + "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", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Neoplasm", "Hematological neoplasm", - "Generalized abnormality of skin", - "Internal hemorrhage", + "vasculature", "Abnormality of the vasculature", "blood circulation", - "Vascular skin abnormality", - "Abnormality of blood circulation", - "vasculature", - "abnormality of cardiovascular system physiology", - "Abnormal bleeding", "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", + "manual digit bone", "Duplication of bones involving the upper extremities", - "phalanx", "phalanx endochondral element", "manual digit phalanx endochondral element", - "abnormal phalanx morphology", - "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", + "abnormal phalanx morphology", "acropodial skeleton", - "manual digit bone", + "abnormal phalanx of manus morphology", + "Abnormality of thumb phalanx", + "phalanx", "digit 1 digitopodial skeleton", "manual digit digitopodial skeleton", "digitopodium bone", "skeleton of manual acropodium", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "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", - "Abnormality of DNA repair", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", + "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", @@ -4573,125 +4570,103 @@ def autocomplete_response(): "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "abnormal growth", + "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", - "decreased anatomical entity mass", - "abnormal size of eyeball of camera-type eye", + "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", - "Abnormality of the face", - "simple eye", - "sensory system", + "abnormal camera-type eye morphology", "Abnormality of the eye", "abnormal face", - "sense organ", - "eyeball of camera-type eye", - "camera-type eye", - "Microphthalmia", "orbital region", - "Abnormality of the orbital region", "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", + "abnormal size of eyeball of camera-type eye", "visual system", - "abnormally decreased number of reticulocyte", - "reticulocyte", - "multicellular organismal reproductive process", - "Non-obstructive azoospermia", - "axial skeleton plus cranial skeleton", + "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", - "system process", - "abnormal limb morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "appendicular skeletal system", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "entity", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", + "axial skeleton plus cranial skeleton", "Abnormal appendicular skeleton morphology", "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "system", - "aplasia or hypoplasia of manual digit 1", - "bone of appendage girdle complex", - "Abnormal finger phalanx morphology", - "pigmentation", + "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 limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "occurrent", + "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "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", - "paired limb/fin skeleton", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "digit plus metapodial segment", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "forelimb", - "Abnormal forebrain morphology", - "abnormal digit morphology", - "abnormal manus", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal skeletal system", - "digit 1 plus metapodial segment", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", @@ -4701,82 +4676,87 @@ def autocomplete_response(): "skeleton", "male gamete generation", "absent anatomical entity", - "regulation of metabolic process", - "Decreased body weight", - "autopodial extension", - "manual digit 1", - "abnormal immune system morphology", - "skeletal system", - "motile cell", - "Abnormality of limbs", - "Abnormality of limb bone morphology", "Abnormal digit morphology", - "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 cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "abnormally decreased number of myeloid cell", - "aplastic anatomical entity", - "face", - "aplasia or hypoplasia of manual digit", + "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", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "acropodium region", - "Intellectual disability", - "bone marrow", + "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", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "abnormal enucleated reticulocyte morphology", - "nucleate cell", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "sexual reproduction", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "Macule", - "renal system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "quality", "abnormal manus morphology", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", + "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", - "Aplasia/Hypoplasia of fingers", "digitopodium region", + "Aplasia/Hypoplasia of fingers", "abnormal myeloid cell morphology", "increased biological_process", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "hemolymphoid system", - "Aplasia/hypoplasia involving the skeleton", + "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", @@ -4788,18 +4768,69 @@ def autocomplete_response(): "Abnormal cerebral morphology", "abnormal blood circulation", "arm bone", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", + "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", - "abnormal immune system", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "abnormal renal system morphology", "abnormal forelimb morphology", "abnormal location of anatomical entity", @@ -4807,29 +4838,27 @@ def autocomplete_response(): "Hypermelanotic macule", "abnormal bone marrow morphology", "reproduction", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Abnormal cellular immune system morphology", - "Abnormal nervous system physiology", - "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "multicellular organism", "Thrombocytopenia", - "skeletal element", - "zeugopod", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "renal collecting system", - "Ectopic kidney", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", + "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", @@ -4837,9 +4866,9 @@ def autocomplete_response(): "Abnormality of neutrophils", "leukocyte", "abnormal gamete generation", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "continuant", + "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", @@ -4847,71 +4876,15 @@ def autocomplete_response(): "negative regulation of biosynthetic process", "material entity", "long bone", - "regional part of nervous system", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "abdominal segment element", - "abnormal reproductive system morphology", - "abnormal hematopoietic system", - "Renal agenesis", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "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", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "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", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "aplastic manual digit 1", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic cell morphology", - "viscus", - "Abnormal granulocyte morphology", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Complete duplication of phalanx of hand", - "limb bone", - "granulocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal nervous system", "paired limb/fin segment", "abnormality of camera-type eye physiology", "immune system", - "abnormally decreased number of leukocyte in the independent continuant", "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "Absent forearm bone", "Leukemia", "abnormal cell morphology", @@ -4927,6 +4900,34 @@ def autocomplete_response(): "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", @@ -4934,6 +4935,9 @@ def autocomplete_response(): "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", @@ -4943,94 +4947,83 @@ def autocomplete_response(): "compound organ", "zeugopodial skeleton", "limb long bone", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", "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", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "manual digit 1 plus metapodial segment", - "abdomen", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "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 nervous system", + "abnormal hematopoietic cell morphology", "biological phase", "autopod bone", "mesoderm-derived structure", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", + "abnormal manus", + "craniocervical region", + "abnormal forebrain morphology", "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", "abnormal craniocervical region morphology", "immaterial entity", "Abnormality of chromosome stability", "anatomical entity dysfunction in independent continuant", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "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", - "craniocervical region", + "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", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "kinesthetic behavior", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal forebrain morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal skull morphology", - "reproductive organ", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Decreased head circumference", + "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", @@ -5038,43 +5031,52 @@ def autocomplete_response(): "Abnormal axial skeleton morphology", "non-material anatomical boundary", "erythroid lineage cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", + "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", - "heart plus pericardium", - "Cryptorchidism", + "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", - "abnormal integument", - "Cafe-au-lait spot", - "abnormally decreased number of anatomical entity in the independent continuant", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Neutropenia", - "reproductive structure", "changed biological_process rate", "increased biological_process in skin of body", "absent germ cell", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Abnormality of the integument", "Neurodevelopmental delay", "abnormal skin of body", - "Abnormality of the integument", "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", - "integumental system", - "integument", - "absent radius bone in the forelimb", "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", @@ -5083,32 +5085,31 @@ def autocomplete_response(): "germ line cell", "abnormal pigmentation in independent continuant", "Abnormal forearm bone morphology", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "Abnormality of the head", - "heart", - "abnormal pigmentation", + "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", - "Abnormality of the genital system", + "abnormal endocrine system", + "abnormally decreased number of reticulocyte", + "Abnormality of the endocrine system", "Abnormality of reproductive system physiology", "gamete", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "glandular system", "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", - "oxygen accumulating cell", "abnormal erythrocyte morphology", + "oxygen accumulating cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", "manus bone", "radius bone", "Abnormality of the hand", @@ -5116,130 +5117,129 @@ def autocomplete_response(): "abnormal shape of continuant", "trunk", "abnormal bone marrow cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", "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", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", "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", - "digit 1", - "abnormal platelet morphology", + "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", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "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", - "abnormal internal genitalia", - "abnormal cell", - "disconnected anatomical group", - "male reproductive organ", - "internal genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "haploid cell", + "absent gamete", + "sperm", "abnormal gamete", "Reticulocytopenia", - "abnormal testis morphology", - "forelimb zeugopod", - "interphase", - "semen", "organism substance", - "Abnormal external genitalia", + "haploid cell", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "internal genitalia", + "abnormal internal genitalia", "platelet", "absent sperm in the independent continuant", - "male germ cell", - "abnormal granulocyte morphology", - "Azoospermia", "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", - "testis", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive 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", - "sperm", - "absent gamete", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "Abnormal testis morphology", + "abnormal granulocyte morphology", + "Azoospermia", "absent anatomical entity in the independent continuant", "abnormally localised testis", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "forelimb zeugopod skeleton", + "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", - "abnormal radius bone morphology", - "Absent radius", - "aplastic forelimb zeugopod bone", - "abnormal size of skull", - "forelimb long bone", "sensory perception of mechanical stimulus", "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", + "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", - "Short finger", "skeleton of digitopodium", "Short digit", - "anterior region of body", - "decreased length of manual digit 1", + "reticulocyte", ], }, { @@ -5319,7 +5319,6 @@ def autocomplete_response(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", @@ -5336,19 +5335,21 @@ def autocomplete_response(): "HP:0002650", "HP:0000252", "HP:0001882", + "HP:0001510", "HP:0002863", "HP:0002119", - "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", + "HP:0001562", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -5367,7 +5368,6 @@ def autocomplete_response(): "HP:0001639", "HP:0001636", "HP:0001631", - "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", @@ -5427,7 +5427,6 @@ def autocomplete_response(): "Arteriovenous malformation", "Abnormal morphology of ulna", "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", @@ -5444,19 +5443,21 @@ def autocomplete_response(): "Scoliosis", "Microcephaly", "Leukopenia", + "Growth delay", "Myelodysplasia", "Ventriculomegaly", - "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", + "Oligohydramnios", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", + "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -5475,7 +5476,6 @@ def autocomplete_response(): "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", - "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", @@ -5527,151 +5527,151 @@ def autocomplete_response(): "has_phenotype_count": 106, "has_phenotype_closure": [ "HP:0001010", + "UPHENO:0084987", "UPHENO:0085070", - "CL:0000458", "HP:0001873", - "UPHENO:0085344", + "UPHENO:0086173", + "CL:0000458", "UPHENO:0085189", - "UPHENO:0084987", "UPHENO:0086049", - "HP:0011875", "CL:0000233", "CL:0000457", - "UPHENO:0086173", + "UPHENO:0085344", + "HP:0011875", "HP:0001939", - "HP:0003220", "GO:0008152", + "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0030218", + "GO:0048871", + "UPHENO:0088162", + "UPHENO:0088170", + "CL:0000329", "HP:0010972", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", + "HP:0020047", + "CL:0000764", + "HP:0005522", "HP:0001877", "HP:0025461", "UPHENO:0084928", - "CL:0000329", - "UPHENO:0088162", - "GO:0048871", - "CL:0000764", - "GO:0048872", - "UPHENO:0088170", - "GO:0048869", + "GO:0030218", "GO:0002376", "GO:0009987", "GO:0042592", - "HP:0005522", - "HP:0020047", + "GO:0048869", "CL:0000232", + "GO:0048872", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0002818", "UBERON:0015001", "UPHENO:0080187", - "HP:0002818", - "UPHENO:0075198", "HP:0012745", + "UPHENO:0075198", "HP:0000010", "UPHENO:0002263", "UPHENO:0053644", "HP:0000028", - "UPHENO:0002806", - "UBERON:0000056", - "UBERON:0006555", "UBERON:0036295", + "UBERON:0006555", + "UPHENO:0002806", "HP:0025633", - "UPHENO:0002442", + "UBERON:0000056", "UPHENO:0086132", - "HP:0000083", + "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", + "HP:0000083", "HP:0000135", "HP:5201015", - "UPHENO:0081423", "UPHENO:0034110", "UPHENO:0063513", + "UPHENO:0081423", "HP:0000268", "UPHENO:0001208", - "UBERON:0013766", "UPHENO:0072402", "UBERON:0001084", - "UBERON:1000021", - "UPHENO:0087928", "UPHENO:0087058", - "HP:0000324", + "UBERON:0013766", + "UPHENO:0087928", + "UBERON:1000021", "UPHENO:0084734", "HP:0001999", + "HP:0000324", + "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0041084", - "UPHENO:0041083", "UPHENO:0076704", - "UBERON:0004768", - "UPHENO:0069249", + "UPHENO:0041083", "UPHENO:0081786", - "HP:0009116", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0003278", - "UBERON:0001684", + "UBERON:0004768", + "HP:0004322", + "HP:0030791", + "HP:0000277", + "UPHENO:0083646", + "UPHENO:0081314", "UPHENO:0084457", "HP:0000286", "HP:0009118", "UPHENO:0088116", - "UBERON:0001710", - "UPHENO:0083646", - "UPHENO:0081314", - "HP:0004322", - "HP:0030791", "CL:0000081", "UBERON:0012360", - "HP:0011873", - "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0069249", + "UBERON:0001708", + "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", "UPHENO:0081141", + "HP:0009116", "HP:0000347", - "UPHENO:0080087", + "UBERON:0001710", "HP:0009122", - "HP:0000277", - "GO:0050954", - "HP:0000365", + "HP:0011873", + "UPHENO:0081788", "UPHENO:0005518", + "HP:0000365", + "GO:0050954", "UPHENO:0052970", - "HP:0000486", "HP:0000549", - "GO:0050953", + "HP:0000486", + "UPHENO:0052164", "UPHENO:0050236", + "GO:0050953", "GO:0034101", "UPHENO:0050622", - "UPHENO:0052164", - "UPHENO:0085881", "HP:0000520", + "UPHENO:0085881", "HP:0000568", "UPHENO:0075219", "HP:0100887", - "HP:0007670", + "UPHENO:0066972", + "UPHENO:0080581", "UPHENO:0079837", "HP:0000359", "HP:0000496", + "UPHENO:0079828", + "HP:0007670", + "UPHENO:0002240", "UPHENO:0080602", "UPHENO:0003044", - "UPHENO:0066972", - "UPHENO:0080581", "HP:0011821", "HP:0012547", "HP:0031704", - "UPHENO:0079828", - "UPHENO:0002240", - "UBERON:0003975", + "UBERON:0003100", "HP:0000008", - "UPHENO:0041033", - "HP:0000130", + "UBERON:0003975", "UPHENO:0003053", - "UBERON:0003100", - "HP:0002719", - "UPHENO:0076766", + "UPHENO:0041033", "HP:0010460", "UPHENO:0005170", "UBERON:0000993", "UBERON:0013515", + "HP:0000130", + "HP:0002719", + "UPHENO:0076766", "UBERON:0012358", "GO:0002262", "UBERON:0003620", @@ -5680,326 +5680,332 @@ def autocomplete_response(): "UBERON:0015025", "HP:0001172", "UBERON:0015024", - "UPHENO:0076724", "UPHENO:0021800", + "UPHENO:0076724", "UBERON:5102389", - "NBO:0000403", - "NBO:0000001", - "NBO:0000389", - "GO:0050905", - "NBO:0000338", - "UPHENO:0041151", - "UPHENO:0078622", + "GO:0007610", "HP:0000708", "HP:0001347", - "UPHENO:0049622", - "GO:0007610", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0083263", + "UPHENO:0049622", "UBERON:0004742", "NBO:0000388", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050613", + "HP:0100022", "UPHENO:0080585", + "UPHENO:0050613", + "NBO:0000403", + "NBO:0000001", "GO:0050896", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0050620", + "GO:0060004", "UPHENO:0050079", - "UPHENO:0050606", - "HP:0100022", + "GO:0050905", + "NBO:0000338", "UPHENO:0080393", + "HP:0001537", "UPHENO:0076794", "HP:0001551", - "HP:0001537", + "UBERON:0000474", + "HP:0010866", + "UPHENO:0086122", "UBERON:0003697", - "HP:0004299", - "UPHENO:0002712", - "HP:0003549", "HP:0004298", "UBERON:0007118", - "UPHENO:0086122", - "UBERON:0000474", - "HP:0010866", - "UBERON:0000173", - "HP:0001562", - "HP:0001560", - "UBERON:0000323", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0086128", - "UPHENO:0015329", + "HP:0003549", + "HP:0004299", + "UPHENO:0002712", + "UPHENO:0019890", "UPHENO:0069254", "UBERON:0002085", "UPHENO:0086857", - "UPHENO:0019890", - "GO:0007600", - "HP:0001671", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0084715", + "HP:0001714", "UPHENO:0019886", - "UBERON:0002094", - "UBERON:0003037", - "HP:0031654", + "HP:0001641", "HP:0011563", - "UPHENO:0042775", - "UBERON:0002099", - "UPHENO:0084482", + "UBERON:0010688", + "UPHENO:0086855", "HP:0000218", "UBERON:0002146", - "HP:0001714", - "UPHENO:0086864", + "GO:0007600", + "HP:0001671", + "UBERON:0003037", + "UBERON:0002094", + "HP:0011025", "UPHENO:0086863", "HP:0001707", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0084715", "UPHENO:0084489", "HP:0001636", - "HP:0001641", - "HP:0011025", - "UBERON:0010688", - "UPHENO:0086855", "HP:0011545", - "UPHENO:0024906", - "UPHENO:0077800", - "HP:0001637", - "UBERON:0018260", - "UBERON:0005983", - "UBERON:0000383", + "HP:0002623", + "UPHENO:0086854", + "UPHENO:0042775", + "UBERON:0002099", + "UPHENO:0086864", + "HP:0031654", + "UPHENO:0084482", "UPHENO:0076781", + "UBERON:0000383", + "UBERON:0005983", "HP:0001638", - "UBERON:0003513", - "HP:0001643", - "UBERON:0011695", + "UPHENO:0024906", + "UBERON:0018260", + "HP:0001637", + "UPHENO:0077800", + "UBERON:0004716", "UBERON:0003834", "UBERON:0005985", "UBERON:0018674", - "UPHENO:0087018", + "HP:0001643", "UPHENO:0087309", - "UBERON:0004716", + "UBERON:0011695", + "UBERON:0003513", "UPHENO:0015290", + "UPHENO:0087018", "UBERON:0006876", "UBERON:0002201", "UBERON:0003498", + "UBERON:0010191", + "UPHENO:0076809", "HP:0002692", "UBERON:0003519", - "UPHENO:0076809", - "UBERON:0010191", "HP:0001679", "UPHENO:0082454", + "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0041369", - "UPHENO:0078347", "UPHENO:0078246", + "UPHENO:0078347", "UBERON:0003457", "UBERON:0011300", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0008200", - "UBERON:0002020", - "UBERON:0000956", - "UBERON:0000203", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0084465", "HP:0002007", "HP:0430000", + "UPHENO:0086595", + "HP:0002538", "UPHENO:0076732", "UBERON:0007914", - "UBERON:0004756", - "UBERON:0001869", + "HP:0002683", + "UPHENO:0002700", "UPHENO:0055092", "UPHENO:0005994", + "UBERON:0008200", + "UBERON:0003528", + "UBERON:0000209", "UBERON:0004339", "UBERON:0010364", "UBERON:0011158", - "HP:0002683", - "UBERON:0003528", - "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0004756", + "UBERON:0001869", "HP:0000290", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0086595", - "HP:0002538", - "UPHENO:0084465", - "UBERON:0005401", "UBERON:0016529", - "UPHENO:0002700", + "UBERON:0005401", + "UBERON:0002410", + "UBERON:0000045", + "UPHENO:0087601", "HP:0001763", "UPHENO:0086978", "UPHENO:0087933", - "HP:0410015", - "UBERON:0002005", - "UBERON:0001808", - "UBERON:0003338", "UPHENO:0085068", "HP:0025028", - "UBERON:0000011", - "UPHENO:0087601", "UBERON:0001809", + "UBERON:0003338", "HP:0410014", - "HP:0012331", - "UPHENO:0087602", + "UPHENO:0002941", + "HP:0410015", + "UPHENO:0087121", + "UBERON:0002005", + "UBERON:0001808", + "HP:0002251", + "UPHENO:0020258", + "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", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UBERON:0002240", + "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", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0051077", + "HP:0000001", + "UPHENO:0087950", "UPHENO:0075148", "UBERON:0004249", "GO:0035295", - "UPHENO:0076744", - "HP:0040069", - "UBERON:0000464", - "HP:0011277", - "UPHENO:0063599", - "UPHENO:0076707", - "UPHENO:0087232", "UPHENO:0084729", "UBERON:0016880", - "UBERON:0005409", - "UPHENO:0086797", - "HP:0002242", + "UBERON:0000047", + "GO:0016331", + "HP:0000202", + "UPHENO:0052778", + "UPHENO:0055730", + "GO:0021915", + "UBERON:5101463", + "GO:0007399", + "GO:0060429", + "UPHENO:0077885", + "BFO:0000003", + "UBERON:0000003", "UPHENO:0076780", "UPHENO:0077854", "HP:0004323", - "UBERON:0034713", - "UPHENO:0005642", - "UPHENO:0019888", - "HP:0100627", - "UPHENO:0085876", - "UBERON:0001785", - "UBERON:0005162", - "UPHENO:0088186", - "HP:0045010", - "UBERON:0000010", + "UPHENO:0086797", + "HP:0002242", + "UBERON:0001043", + "HP:0001713", + "UBERON:0035554", + "UPHENO:0041410", "UBERON:0001530", "UPHENO:0076722", "UBERON:0001424", "HP:0002650", - "HP:0009484", + "UBERON:0000010", "UPHENO:0041146", - "UBERON:0000047", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0035133", - "NCBITaxon:6072", - "UPHENO:0076776", - "UPHENO:0088050", - "UPHENO:0087186", - "UPHENO:0081435", - "HP:0001760", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0045010", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0085876", + "UBERON:0001785", + "HP:0009484", + "UBERON:0034713", + "UPHENO:0005642", + "UPHENO:0019888", + "HP:0100627", "UPHENO:0004508", "BFO:0000020", "UBERON:0012354", - "HP:0012243", - "NCBITaxon:33154", - "UBERON:0011892", - "GO:0005623", - "UBERON:0006311", - "UPHENO:0021670", - "UPHENO:0079826", - "UPHENO:0072814", - "HP:0000553", - "HP:0008062", - "UPHENO:0081313", - "HP:0000483", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:5102544", - "HP:0040070", - "UPHENO:0076718", - "HP:0012443", - "UBERON:0001032", - "UBERON:0002616", - "UBERON:0002101", "UBERON:0003466", "HP:0000047", "UBERON:0000483", "BFO:0000141", - "UPHENO:0041664", - "UPHENO:0086817", - "HP:0100867", + "UBERON:0002514", + "HP:0011844", + "UBERON:0001434", + "HP:0002795", "UBERON:0004572", "UBERON:0004708", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0076718", + "HP:0040071", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0009792", + "UBERON:0004375", + "UPHENO:0021561", + "HP:0040070", + "UBERON:0008001", + "UPHENO:0031199", + "UBERON:0002204", + "UBERON:0001333", + "GO:0003008", + "UBERON:0004582", + "UPHENO:0086956", + "UBERON:0003607", + "UBERON:0015003", + "UBERON:0010712", "UBERON:0012475", + "UBERON:0004535", + "UPHENO:0002880", + "UBERON:0003914", "UPHENO:0020868", "HP:0002973", "HP:0000175", "UPHENO:0003098", "UBERON:0011676", "HP:0000025", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "UBERON:0002101", + "HP:0002817", + "UPHENO:0085118", + "UBERON:0010358", + "UBERON:0001062", + "UBERON:0000981", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + "UBERON:0005423", + "HP:0004207", "UPHENO:0076740", - "UBERON:0008001", - "UPHENO:0031199", - "UBERON:0002204", - "UBERON:0001333", - "UBERON:0003607", - "UPHENO:0002880", - "UBERON:0004535", - "UPHENO:0077877", - "HP:0000340", - "UPHENO:0002751", - "UBERON:0004766", - "HP:0007700", - "UPHENO:0088185", - "UBERON:0010712", - "GO:0003008", - "UBERON:0004582", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0040071", - "UPHENO:0021561", - "UBERON:0015003", - "UBERON:0001434", - "HP:0002795", - "UPHENO:0082356", - "UBERON:0001766", - "HP:0040064", "HP:0045005", "GO:0002009", "UPHENO:0087501", - "UPHENO:0080079", - "HP:0007364", - "UBERON:0002514", - "HP:0011844", - "UPHENO:0086956", - "UBERON:0000981", - "UBERON:0011584", - "UBERON:0004923", - "UBERON:0000026", - "UBERON:0005423", - "HP:0004207", - "UPHENO:0076703", - "UBERON:0005337", - "HP:0000582", "UBERON:0008962", "UPHENO:0011498", "UBERON:0000955", "UBERON:0002428", "HP:0000639", "UBERON:0003128", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "HP:0002817", - "UPHENO:0019766", - "HP:0000953", - "UPHENO:0018390", + "HP:0100867", + "HP:0040064", + "UPHENO:0076703", + "UBERON:0005337", + "HP:0000582", + "HP:0025015", + "UBERON:0000970", + "HP:0006495", "PATO:0000001", "UBERON:0003625", "HP:0002597", "UBERON:0002049", "UBERON:0001016", "UBERON:0002107", - "HP:0025015", - "UBERON:0000970", - "HP:0006495", - "UBERON:0007272", - "UBERON:0004537", - "UBERON:0000064", + "HP:0001710", + "UPHENO:0087363", + "UPHENO:0076776", + "UBERON:0035133", + "NCBITaxon:6072", "HP:0032101", "HP:0001511", "UPHENO:0080362", @@ -6007,21 +6013,25 @@ def autocomplete_response(): "UPHENO:0076729", "UPHENO:0063527", "UBERON:0004145", + "UBERON:0007272", + "UBERON:0004537", + "UBERON:0000064", + "UPHENO:0019766", + "HP:0000953", + "UPHENO:0018390", "UBERON:0008811", - "HP:0001629", - "UBERON:0004120", - "GO:0007605", - "UBERON:0010363", - "UPHENO:0087548", - "UBERON:0004151", - "UBERON:0035639", - "UPHENO:0003058", "UBERON:0001332", "UBERON:0010719", "UPHENO:0086792", "GO:0007275", "UPHENO:0078288", "UBERON:0000989", + "GO:0007605", + "UBERON:0010363", + "UPHENO:0087548", + "UBERON:0004151", + "UBERON:0035639", + "UPHENO:0003058", "GO:0001841", "UBERON:0002349", "UPHENO:0080662", @@ -6029,29 +6039,42 @@ def autocomplete_response(): "GO:0048646", "UPHENO:0046753", "UPHENO:0087907", + "HP:0001629", + "UBERON:0004120", "HP:0100543", "UBERON:0001075", "UPHENO:0050108", + "HP:0012759", + "HP:0002118", "HP:0009602", "HP:0012638", "HP:0001780", "HP:0006101", - "HP:0012759", - "HP:0002118", - "UBERON:0011107", - "GO:0050879", - "UPHENO:0076702", - "UBERON:0000475", + "HP:0006824", + "UPHENO:0002708", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0007779", + "UBERON:0012151", + "HP:0100026", + "GO:0040007", + "HP:0002921", + "HP:0002813", + "UPHENO:0003405", + "UBERON:0010418", + "UBERON:0005358", + "UPHENO:0087433", "UPHENO:0088123", "UPHENO:0079833", "UBERON:0004086", "UBERON:0000153", "UPHENO:0019898", "UPHENO:0075933", - "HP:0006824", - "UPHENO:0002708", - "HP:0002011", - "UPHENO:0081700", + "HP:0000238", + "GO:0050879", + "UPHENO:0076702", + "UBERON:0000475", + "UBERON:0011107", "HP:0000036", "UBERON:0005281", "UPHENO:0085874", @@ -6064,80 +6087,49 @@ def autocomplete_response(): "UPHENO:0005597", "UPHENO:0033635", "UBERON:0004771", - "UBERON:0012151", - "HP:0100026", - "GO:0040007", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "UPHENO:0080202", - "UBERON:0000995", - "UBERON:0010428", - "UBERON:0005358", - "UPHENO:0087433", - "UBERON:0007779", "UPHENO:0004523", "HP:0009115", - "UBERON:0010418", - "HP:0000238", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", "UPHENO:0056212", "UBERON:0002081", "UPHENO:0086610", - "UPHENO:0031193", - "HP:0002863", - "UBERON:0001021", - "UPHENO:0031170", "UBERON:0002471", "UPHENO:0087089", "HP:0012848", "UPHENO:0041098", "GO:0032502", "UPHENO:0002832", - "UBERON:0001460", - "HP:0032251", - "HP:0000152", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "UPHENO:0087472", - "UBERON:0001130", - "HP:0010161", - "GO:0007601", - "UBERON:0000465", - "UPHENO:0002598", - "UBERON:0001968", - "HP:0410043", - "UPHENO:0081709", - "UPHENO:0053298", - "UBERON:0000165", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", - "UBERON:0011137", - "HP:0012639", - "BFO:0000002", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "HP:0011218", "UPHENO:0002219", "HP:0000072", "UPHENO:0006910", - "HP:0000202", - "UPHENO:0052778", - "GO:0016331", - "UBERON:0001870", - "UBERON:0004175", - "UBERON:0011216", - "HP:0011024", - "UPHENO:0056237", - "HP:0012758", - "UBERON:0002193", - "UPHENO:0087846", - "BFO:0000004", + "GO:0035239", + "UBERON:0002091", + "UPHENO:0041591", + "UBERON:0003947", + "CL:0000019", + "UBERON:0002082", + "UPHENO:0084815", + "HP:0003026", + "UPHENO:0087665", "UBERON:0011249", "UPHENO:0005998", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0056333", - "UBERON:0003133", + "UBERON:0000062", + "HP:0005344", + "UBERON:0011582", + "HP:0010301", + "UPHENO:0031129", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "UPHENO:0031193", + "HP:0002863", "HP:0025354", "HP:0001646", "UPHENO:0050625", @@ -6145,6 +6137,9 @@ def autocomplete_response(): "UBERON:0001137", "HP:0004378", "UPHENO:0001002", + "UBERON:0003135", + "UPHENO:0002332", + "UBERON:0015030", "UBERON:0019264", "HP:0033353", "UPHENO:0020584", @@ -6152,60 +6147,62 @@ def autocomplete_response(): "UPHENO:0081566", "UPHENO:0014240", "HP:0000356", - "HP:0000153", - "HP:0100491", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0087531", - "UPHENO:0086198", - "HP:0000539", - "UBERON:0003135", - "UBERON:0011138", - "UBERON:0004571", - "UBERON:0000065", - "GO:0022414", + "UBERON:0001130", + "HP:0010161", + "GO:0007601", + "UBERON:0000465", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0021823", + "UPHENO:0085194", + "UBERON:0000991", + "HP:0000707", + "HP:0000795", + "UBERON:0000990", + "BFO:0000001", + "UPHENO:0002635", + "HP:0030311", + "UPHENO:0002371", + "BFO:0000004", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0056333", + "UBERON:0003133", + "GO:0048729", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "HP:0002414", + "UPHENO:0082129", + "HP:0003330", + "UPHENO:0001005", "UBERON:0003509", "UBERON:0015021", "HP:0001667", "HP:0000027", - "UBERON:0001049", - "HP:0034261", - "UPHENO:0020641", - "UPHENO:0076692", - "HP:0011961", + "UPHENO:0019477", + "UBERON:0011138", + "UBERON:0004571", + "UBERON:0000065", + "GO:0022414", + "HP:0045058", "UPHENO:0086005", "UPHENO:0087510", "GO:0009653", "UBERON:0000964", - "HP:0045058", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0001005", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0050881", - "HP:0008669", - "HP:0000505", - "UBERON:0006058", - "UBERON:0015203", - "UPHENO:0087022", - "UBERON:0001768", - "UBERON:0000991", - "NCBITaxon:131567", - "UBERON:0001981", - "UPHENO:0002406", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0005433", - "UBERON:0000990", - "UPHENO:0001003", - "UPHENO:0002332", - "UBERON:0015030", - "UBERON:0008784", - "UPHENO:0049970", - "HP:0001627", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0011137", + "HP:0012639", + "BFO:0000002", + "HP:0000481", + "UPHENO:0015280", + "HP:0001560", + "UPHENO:0075902", + "UBERON:0001007", + "UPHENO:0072194", + "UPHENO:0079876", "HP:0010468", "UPHENO:0076727", "UBERON:0003608", @@ -6214,152 +6211,82 @@ def autocomplete_response(): "UPHENO:0076739", "UPHENO:0005986", "CL:0002242", + "HP:0006501", + "HP:0001642", + "UPHENO:0005116", + "UBERON:0005181", "UBERON:0005291", "UPHENO:0081755", "UBERON:0002103", "UBERON:0003462", "NBO:0000411", "HP:0000163", - "HP:0008055", - "UPHENO:0041462", "UPHENO:0086201", - "HP:0000759", - "UPHENO:0076735", - "UPHENO:0078081", - "UBERON:0002495", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015063", "UPHENO:0080352", "HP:0025031", - "GO:0009888", - "HP:0000925", - "UPHENO:0075997", - "GO:0048598", - "UPHENO:0003055", - "GO:0008150", - "HP:0007565", - "UPHENO:0086700", - "UBERON:0003126", - "UBERON:0001009", - "UPHENO:0002830", - "CL:0000015", - "UBERON:0015228", - "UBERON:0002513", - "HP:0004362", - "GO:0032504", - "HP:0000078", - "UBERON:0000062", - "HP:0003468", - "UPHENO:0020950", - "UPHENO:0081424", - "UBERON:0000075", - "UPHENO:0087894", - "UPHENO:0002901", - "UPHENO:0021823", - "UPHENO:0085194", - "UPHENO:0081598", - "UBERON:0011595", - "UPHENO:0081608", - "UBERON:0001423", - "UBERON:0004176", - "UPHENO:0020748", - "UPHENO:0081584", - "UPHENO:0002595", - "HP:0012041", - "UBERON:0010313", - "HP:0000315", - "UBERON:0001004", - "HP:0000481", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001249", - "UBERON:0000479", - "UBERON:0001007", - "UPHENO:0072194", - "UPHENO:0079876", - "NCBITaxon:33208", - "UBERON:0011374", - "GO:0001843", - "UPHENO:0079839", - "UPHENO:0021672", - "HP:0012130", - "UBERON:0002405", - "NCBITaxon:2759", - "UPHENO:0076800", - "UBERON:0002386", - "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0003947", - "CL:0000019", - "UPHENO:0041591", - "UBERON:0002082", - "UPHENO:0084815", - "HP:0003026", - "UPHENO:0076957", - "UPHENO:0005651", - "UBERON:0005178", - "UBERON:0001436", - "UPHENO:0049701", + "UPHENO:0086621", + "HP:0010461", "UBERON:0000020", - "UPHENO:0080165", - "UPHENO:0087547", - "UBERON:0001638", - "CL:0000413", - "UPHENO:0041395", - "UBERON:0000922", - "UBERON:0007811", - "UPHENO:0084816", - "HP:0012252", - "UBERON:0000057", - "UPHENO:0088338", - "UPHENO:0077872", - "UBERON:0010409", - "UBERON:0002104", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "HP:0006501", - "HP:0001642", - "UBERON:0005181", - "UPHENO:0005116", - "UPHENO:0087665", - "HP:0000707", - "HP:0000795", - "HP:0011389", - "GO:0007276", - "UBERON:0004710", - "HP:0005773", - "UPHENO:0026028", - "UBERON:0001062", - "UPHENO:0085118", - "UBERON:0010358", - "UPHENO:0015303", - "UBERON:0010314", - "HP:0100691", - "GO:0003006", - "GO:0048609", - "UPHENO:0078267", + "HP:0000078", + "HP:0032251", + "UBERON:0001460", + "GO:0050881", + "HP:0008669", + "HP:0000505", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "UBERON:0001021", + "UPHENO:0031170", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0011159", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0086091", + "UPHENO:0002406", + "UPHENO:0082875", + "HP:0011355", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0012874", + "UBERON:0004529", + "UPHENO:0002598", + "UPHENO:0078729", + "UBERON:0002495", + "UBERON:0000463", + "UBERON:0015063", "UBERON:0010707", "UPHENO:0049985", + "UPHENO:0002595", + "UPHENO:0002992", + "HP:0007874", + "HP:0012041", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0087531", + "UPHENO:0086198", + "HP:0000539", + "HP:0000153", + "HP:0100491", + "UBERON:0001049", + "HP:0034261", + "UPHENO:0020641", + "UPHENO:0076692", + "HP:0011961", + "UBERON:0034923", "UBERON:0004054", "HP:0100736", "UPHENO:0087577", "UPHENO:0084834", - "UBERON:0034923", - "UPHENO:0020967", - "UBERON:0000473", - "UBERON:0000477", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0050101", - "UPHENO:0008523", - "UBERON:0010703", - "HP:0002823", + "UBERON:0001004", "UBERON:0002080", "UPHENO:0078452", "UBERON:0011779", @@ -6369,71 +6296,146 @@ def autocomplete_response(): "HP:0003022", "UPHENO:0026506", "GO:0032501", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0002075", - "UBERON:0012150", - "UBERON:0001486", - "CL:0000300", - "UPHENO:0020998", - "UBERON:0010538", - "UBERON:0005445", - "UPHENO:0046540", - "HP:0001626", - "GO:0000003", - "UPHENO:0087006", - "HP:0002119", - "GO:0048232", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005156", + "HP:0410043", + "UBERON:0000479", + "HP:0001249", + "UBERON:0001968", "HP:0001751", "HP:0000035", "UBERON:0001709", "UBERON:0016525", "UPHENO:0087973", "UPHENO:0075878", - "UPHENO:0077885", - "BFO:0000003", - "GO:0060429", - "UBERON:0000003", + "UPHENO:0033572", + "HP:0002246", "PR:000050567", - "HP:0000593", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0011159", - "UPHENO:0079872", + "UPHENO:0075684", + "HP:0030680", + "UPHENO:0002448", + "UPHENO:0056237", + "HP:0012758", + "UBERON:0002193", + "UPHENO:0087846", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0001870", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "HP:0000315", + "UBERON:0010313", + "UPHENO:0001003", + "HP:0000759", + "UPHENO:0076735", + "UPHENO:0078081", + "UBERON:0016879", + "UPHENO:0005433", + "UBERON:0005156", + "GO:0048232", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0010763", + "UBERON:0001009", + "UPHENO:0002830", + "CL:0000015", + "UBERON:0015228", + "UPHENO:0081598", + "UPHENO:0081608", + "UBERON:0011595", + "HP:0004362", + "UBERON:0002513", + "GO:0032504", + "UBERON:0001638", + "CL:0000413", + "UPHENO:0080165", + "UPHENO:0087547", + "NBO:0000416", + "HP:0001871", + "BFO:0000040", + "HP:0000152", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0041037", + "UPHENO:0078267", + "GO:0003006", + "GO:0048609", + "UPHENO:0081424", + "UBERON:0000075", + "UPHENO:0087894", + "UPHENO:0002901", + "HP:0011389", + "GO:0007276", + "UBERON:0004710", + "HP:0005773", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0088050", + "UBERON:0008784", + "UPHENO:0049970", + "HP:0001627", + "UBERON:0003126", + "UPHENO:0081584", + "UPHENO:0020748", + "UPHENO:0086700", + "UBERON:0002050", + "UBERON:0010703", + "HP:0002823", + "HP:0003468", + "UPHENO:0020950", + "UPHENO:0020967", + "UBERON:0000473", + "HP:0000234", + "UPHENO:0085873", + "UBERON:0002075", "UBERON:0002544", + "UPHENO:0087585", "UPHENO:0076695", "UBERON:0000060", - "UPHENO:0087585", - "UBERON:0016548", - "UPHENO:0088171", - "GO:0019953", - "UPHENO:0086091", - "HP:0001872", - "UBERON:0002100", - "UPHENO:0076675", - "HP:0012874", - "UBERON:0004529", - "HP:0005344", - "UBERON:0011582", - "UPHENO:0082467", - "UPHENO:0052178", - "HP:0010301", - "UPHENO:0031129", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0002635", - "HP:0030311", + "UBERON:0012150", + "UBERON:0001486", + "CL:0000300", + "UPHENO:0020998", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "HP:0001626", + "GO:0000003", + "UPHENO:0087006", + "HP:0002119", + "UBERON:0001436", + "UPHENO:0049701", + "UPHENO:0005651", + "UBERON:0005178", + "UPHENO:0026028", + "UPHENO:0015303", + "UBERON:0010314", + "HP:0100691", "UPHENO:0075208", "HP:0000811", "HP:0004328", - "UBERON:0016879", - "BFO:0000040", - "NBO:0000416", - "HP:0001871", + "UPHENO:0041395", + "UBERON:0000922", + "UBERON:0007811", + "UPHENO:0084816", + "HP:0012252", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0000057", + "UPHENO:0088338", + "UBERON:0011215", + "GO:0048856", + "HP:0006503", + "UPHENO:0076800", + "UBERON:0002386", + "HP:0002778", + "HP:0000812", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0084763", + "UBERON:0001691", + "UPHENO:0075220", "UBERON:0002105", "UPHENO:0081792", "UBERON:0022303", @@ -6444,8 +6446,14 @@ def autocomplete_response(): "UBERON:0011250", "UBERON:0001690", "UBERON:0015410", - "UPHENO:0002678", - "UPHENO:0051003", + "HP:0011842", + "UBERON:0001440", + "UPHENO:0075696", + "UBERON:0006598", + "UBERON:0004908", + "HP:0012243", + "HP:0005607", + "UBERON:0007798", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", @@ -6454,10 +6462,25 @@ def autocomplete_response(): "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", @@ -6466,237 +6489,155 @@ def autocomplete_response(): "UPHENO:0002378", "UPHENO:0076765", "HP:0002086", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", "HP:0000478", - "UBERON:0000481", - "HP:0000957", + "UPHENO:0041079", + "UBERON:0019231", + "HP:0031703", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", "HP:0011314", "UBERON:0001819", "UBERON:0003657", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "HP:0010461", - "UPHENO:0086621", - "RO:0002577", - "HP:0000951", "HP:0000364", "GO:0009790", "UPHENO:0081574", "UPHENO:0086159", "UPHENO:0076730", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0005607", - "UBERON:0007798", - "HP:0002664", + "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", - "HP:0011793", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "UPHENO:0071334", - "HP:0000032", "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", - "UBERON:0015212", - "UPHENO:0087478", - "UBERON:0001558", - "GO:0048731", - "UBERON:0001043", - "HP:0001713", - "UBERON:0035554", - "UPHENO:0041410", - "UPHENO:0071309", - "UPHENO:0002725", - "HP:0012718", - "CL:0000039", - "UBERON:0013765", - "OBI:0100026", - "UPHENO:0086633", - "UBERON:0004119", - "UPHENO:0080209", + "GO:0072175", + "HP:0002060", + "GO:0007283", + "UPHENO:0082449", "UPHENO:0087802", - "UPHENO:0075684", - "HP:0030680", - "UPHENO:0002448", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", + "UBERON:0010708", + "GO:0050890", + "UBERON:0000073", + "UBERON:0000019", + "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:0012373", - "UBERON:0002091", - "GO:0035239", - "HP:0000813", - "HP:0100542", - "UBERON:0000045", + "HP:0040004", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "UPHENO:0087924", + "UBERON:0001981", + "NCBITaxon:131567", "UPHENO:0002910", - "UBERON:0001272", - "GO:0007283", - "UPHENO:0082449", - "HP:0031703", - "UPHENO:0041079", - "UBERON:0019231", - "UBERON:0010708", - "GO:0050890", - "UBERON:0000019", - "UBERON:0000073", - "GO:0050882", - "UBERON:0013522", - "HP:0008438", - "UPHENO:0076798", - "UBERON:0010222", - "UPHENO:0076805", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0035148", - "HP:0000453", - "GO:0048729", - "UBERON:0016491", - "UBERON:0000033", - "UBERON:0006052", - "UPHENO:0033572", - "HP:0002246", - "HP:0001710", - "UPHENO:0087363", - "UBERON:0004375", - "GO:0009792", - "UBERON:5101463", - "GO:0007399", - "GO:0021915", - "HP:0002060", - "GO:0072175", - "UPHENO:0055730", - "UBERON:0005897", - "UBERON:0005174", - "UBERON:0010741", - "UPHENO:0041037", - "HP:0009121", - "HP:0005918", - "UBERON:0034944", - "UBERON:0011164", - "UPHENO:0075655", - "HP:0007874", - "UPHENO:0002992", - "UBERON:0002050", - "UBERON:0003914", - "UBERON:0003920", - "UBERON:0001801", - "UBERON:0010371", - "UPHENO:0015282", - "HP:0000366", - "UPHENO:0087307", - "UPHENO:0050034", - "HP:0003312", - "HP:0000119", - "GO:0043009", - "UBERON:0000061", - "UPHENO:0076803", - "GO:0001838", - "UBERON:0006717", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0002941", - "UPHENO:0019477", - "UPHENO:0076783", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", "UPHENO:0056072", "HP:0001549", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UPHENO:0020809", - "UBERON:0002108", "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:0077889", - "UBERON:0000161", - "UPHENO:0086824", "UPHENO:0074228", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", "UPHENO:0021304", "HP:0010293", - "UBERON:0013702", - "HP:0002023", - "UBERON:0002355", - "UPHENO:0087509", - "HP:0006265", + "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", - "UPHENO:0033559", - "UPHENO:0082794", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "HP:0000174", - "UBERON:0003978", - "HP:0001159", - "UBERON:0005725", - "UPHENO:0086858", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005623", - "UPHENO:0087612", - "UBERON:0004288", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UBERON:0002389", - "HP:0001654", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0010795", "UPHENO:0002839", "UPHENO:0086614", "UBERON:0000915", @@ -6705,163 +6646,194 @@ def autocomplete_response(): "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", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", "UPHENO:0015327", "UBERON:0019221", + "UBERON:0002389", + "HP:0001654", + "HP:0030669", + "UBERON:0000117", + "UBERON:0034921", + "HP:0032039", + "UBERON:0010912", + "UPHENO:0086144", "HP:0000492", "UPHENO:0080382", "HP:0200006", "UBERON:0001474", "UPHENO:0063722", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0021791", + "UBERON:0000179", "UPHENO:0003085", "GO:0030154", "UBERON:0004573", "UBERON:0015052", - "HP:0032039", - "HP:0030669", - "UBERON:0010912", - "UPHENO:0086144", - "UPHENO:0021791", - "UBERON:0000179", "UBERON:0000014", "UPHENO:0086680", "UPHENO:0076761", + "UBERON:0000965", + "UBERON:0005389", + "UBERON:0000477", + "HP:0000517", + "UPHENO:0086633", + "UBERON:0004119", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0088132", "HP:0000518", "HP:0001924", "UPHENO:0018424", - "UBERON:0000965", "UPHENO:0087578", - "UBERON:0005389", "HP:0000508", "GO:0048468", "UPHENO:0087214", "GO:0060562", "UPHENO:0041644", "UPHENO:0041667", - "UPHENO:0086699", + "UPHENO:0021517", "UBERON:0010913", + "UPHENO:0086699", "UBERON:0005726", "UPHENO:0086628", - "UPHENO:0021517", "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", - "UBERON:0002268", - "UPHENO:0085330", - "UBERON:0003129", - "UPHENO:0002642", - "UBERON:0010740", - "UBERON:0000004", - "UPHENO:0063595", - "HP:0000929", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", - "HP:0000415", - "HP:0100547", - "HP:0000144", - "UPHENO:0075852", "HP:0000080", + "UPHENO:0075852", "UBERON:0001008", - "UBERON:0012241", - "UPHENO:0002790", "UBERON:5101466", "HP:0032076", + "UBERON:0012241", + "UPHENO:0002790", + "HP:0000079", + "UBERON:8450002", + "HP:0010936", "UBERON:0001556", "UBERON:0000947", "HP:0001574", - "HP:0010936", - "UBERON:8450002", - "HP:0000079", + "HP:0200005", + "UPHENO:0065599", "HP:0010438", "HP:0000118", "UPHENO:0005995", "UPHENO:0020068", "UBERON:0007830", - "HP:0200005", - "UPHENO:0065599", - "HP:0000252", - "HP:0003272", + "HP:0007364", + "UPHENO:0080079", + "HP:0012130", + "UBERON:0002405", + "NCBITaxon:2759", + "UPHENO:0079839", + "UPHENO:0021672", + "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:0080200", "HP:0100886", "UPHENO:0020888", - "UBERON:0001893", - "UPHENO:0087518", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0004348", - "HP:0002715", - "UPHENO:0086045", - "UBERON:0001449", - "UBERON:0000178", - "HP:0011893", - "HP:0010987", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", + "HP:0000252", + "HP:0003272", "UPHENO:0088321", "UPHENO:0004459", "UPHENO:0003020", "UPHENO:0004536", "UPHENO:0003116", - "UBERON:0002390", + "HP:0004377", + "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", - "CL:0000255", - "CL:0000219", - "UPHENO:0002948", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", + "HP:0010987", + "HP:0011893", + "UBERON:0002390", "UPHENO:0085410", - "UPHENO:0001440", "UPHENO:0000541", "HP:0002031", "HP:0001373", "UBERON:0012476", "UPHENO:0000543", + "UPHENO:0001440", + "HP:0002624", + "UBERON:0002530", "UBERON:0002423", "UBERON:0002365", "UBERON:0002330", - "HP:0002012", - "UBERON:0015204", - "UPHENO:0080126", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000818", - "UPHENO:0084767", - "UBERON:0000916", "UBERON:0002417", "NBO:0000417", "HP:0000924", @@ -6870,26 +6842,38 @@ def autocomplete_response(): "UBERON:0002368", "CL:0000408", "UBERON:0005173", - "HP:0002624", - "UBERON:0002530", + "UBERON:0000916", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "HP:0002012", + "UBERON:0004092", "UPHENO:0002844", "UPHENO:0075995", - "UBERON:0004092", "UBERON:0000466", - "UBERON:0008785", - "UBERON:0000015", "UPHENO:0052675", "HP:0000316", + "UBERON:0008785", + "UBERON:0000015", "UPHENO:0042834", "UPHENO:0072195", "HP:0002814", "UBERON:0006800", "UPHENO:0049367", + "HP:0001197", + "UPHENO:0075949", + "UBERON:0000173", + "HP:0001562", + "NBO:0000313", + "HP:0002827", "UPHENO:0052231", "UPHENO:0081594", - "NCBITaxon:1", "UPHENO:0021474", "UPHENO:0087597", + "NCBITaxon:1", "UBERON:0002114", "UPHENO:0076748", "UBERON:0012152", @@ -6897,53 +6881,53 @@ def autocomplete_response(): "UBERON:0010696", "NBO:0000444", "UPHENO:0081344", - "UBERON:0000063", - "HP:0008056", - "UBERON:0007273", "HP:0002270", "UBERON:0015022", "UPHENO:0086866", "UBERON:0001445", - "HP:0011297", - "UBERON:0004248", "GO:0043473", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", "UBERON:0012142", "UBERON:0010758", "UBERON:0001890", "UPHENO:0081091", + "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", - "UPHENO:0087369", - "UPHENO:0082444", - "HP:0001639", - "UPHENO:0002896", - "UPHENO:0076806", + "UBERON:0010709", "HP:0040072", "UBERON:0004053", "UBERON:0001441", "UBERON:0015023", - "UPHENO:0081575", "UBERON:0001711", "UBERON:0003221", + "UPHENO:0087369", + "UPHENO:0081575", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", + "UPHENO:0033603", + "UBERON:0001466", "HP:0100760", - "UBERON:0010709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UBERON:0001769", - "UBERON:5002544", - "UBERON:0000154", - "HP:0031653", - "UBERON:0004122", - "HP:0009826", - "UPHENO:0033616", - "HP:0001384", "CL:0000763", "UPHENO:0049586", "UBERON:0010742", @@ -6951,228 +6935,244 @@ def autocomplete_response(): "HP:0040068", "UBERON:0002470", "UBERON:0012139", - "HP:0001824", - "UBERON:0004709", - "UPHENO:0033603", - "UBERON:0001466", - "UBERON:0000978", - "UPHENO:0087123", - "HP:0000077", - "UBERON:0002199", "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:0034768", - "UPHENO:0081570", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", - "UBERON:0002553", - "HP:0031816", - "UPHENO:0075843", - "HP:0000172", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0002553", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0004089", "UPHENO:0088088", + "UBERON:0034768", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UPHENO:0081570", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0080221", - "HP:0001034", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "HP:0000309", - "UPHENO:0082682", + "UPHENO:0021670", + "HP:0000553", + "UPHENO:0041664", + "UPHENO:0086817", + "UBERON:0000063", + "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", + "HP:0000593", "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:0008053", - "UPHENO:0022529", - "UPHENO:0054957", - "UPHENO:0084511", + "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:0080601", - "UPHENO:0086172", - "UPHENO:0074589", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0049940", - "UPHENO:0084761", "UBERON:0002384", "UBERON:0012141", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0084766", - "UPHENO:0080201", "UBERON:0003101", + "UPHENO:0080201", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0085371", + "UPHENO:0076723", "HP:0045060", + "CL:0000151", + "HP:0001510", + "HP:0001167", "HP:0008373", "HP:0005927", - "UPHENO:0085371", - "UPHENO:0076723", + "UPHENO:0084766", "UPHENO:0084653", "UBERON:0005451", "HP:0005922", "UPHENO:0082671", "UPHENO:0078179", + "UPHENO:0082835", "HP:0011849", "HP:0010469", "UBERON:0008202", "UPHENO:0082834", "HP:0004209", "UPHENO:0087203", - "UPHENO:0082835", "UBERON:0002412", "GO:0001503", - "HP:0011446", - "HP:0030084", + "HP:0009179", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", "HP:0000377", "HP:0004097", + "HP:0011446", + "HP:0030084", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UPHENO:0080369", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0076736", - "HP:0009179", "UBERON:5003625", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0081790", - "HP:0200007", - "HP:0009821", + "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:0001001", - "UPHENO:0087892", - "UPHENO:0060026", - "HP:0001367", + "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", - "NBO:0000313", - "HP:0002827", - "UBERON:0000982", - "UBERON:0005913", - "UBERON:0001271", + "UBERON:0003463", + "UPHENO:0060026", + "HP:0001367", "UBERON:0003828", "UPHENO:0075945", - "UBERON:0003463", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0001464", + "UPHENO:0001001", + "UPHENO:0087892", "UBERON:0008114", "UBERON:0007828", "UBERON:0003840", - "UPHENO:0087974", - "UBERON:0004770", - "HP:0002644", - "UBERON:5002389", - "UPHENO:0087558", "HP:0000271", "UBERON:0005893", + "UBERON:5002389", + "UPHENO:0087558", "UBERON:0001712", "UBERON:0001950", "UBERON:0003826", - "UBERON:0016526", - "UPHENO:0010795", - "UBERON:0001805", - "HP:0002251", - "UBERON:0004121", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0020258", - "UPHENO:0087121", - "UBERON:0002410", + "HP:0012331", ], "has_phenotype_closure_label": [ - "decreased biological_process in multicellular organism", "decreased qualitatively pigmentation in independent continuant", - "Hypopigmentation of the skin", - "decreased qualitatively biological_process 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 platelet", "abnormally decreased number of myeloid cell", - "abnormal blood cell", + "abnormally decreased number of platelet", "abnormal platelet", "anucleate cell", "secretory cell", + "abnormal blood cell", "obsolete cell", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "decreased size of the multicellular organism", "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", - "cellular developmental process", - "abnormal erythroid lineage cell morphology", "erythroid lineage cell", - "Sideroblastic anemia", - "Abnormal myeloid cell morphology", + "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", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", "homeostasis of number of cells", - "oxygen accumulating cell", - "Anemia of inadequate production", - "radius bone", + "cellular developmental process", "Abnormal morphology of the radius", - "aplasia or hypoplasia of radius bone", "abnormal radius bone morphology", + "aplasia or hypoplasia of radius bone", + "radius bone", "Neurodevelopmental delay", - "abnormal size of palpebral fissure", "decreased length of palpebral fissure", "Abnormal size of the palpebral fissures", - "Abnormality of immune system physiology", + "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", @@ -7186,178 +7186,167 @@ def autocomplete_response(): "abnormally decreased functionality of the gonad", "Cleft palate", "Craniofacial cleft", - "increased height of the anatomical entity", "increased height of anatomical entity in independent continuant", + "increased height of the anatomical entity", "High palate", - "Increased head circumference", "increased size of the head", + "Increased head circumference", + "skin of head", "increased length of the epicanthal fold", - "upper eyelid", - "zone of skin", "Epicanthus", - "skin of head", "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", - "abnormal facial skeleton morphology", - "Hypoplastic facial bones", + "mandible hypoplasia", + "bone element hypoplasia in face", + "decreased size of the mandible", + "bone of lower jaw", + "lower jaw region", "facial skeleton", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "bone of lower jaw", - "mandible hypoplasia", - "abnormal mandible morphology", "Abnormal mandible morphology", - "lower jaw region", "facial bone hypoplasia", - "decreased size of the mandible", - "bone element hypoplasia in face", + "anatomical entity hypoplasia in face", + "abnormal mandible morphology", + "Hypoplastic facial bones", + "abnormal facial skeleton morphology", "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", "abnormal sensory perception of sound", - "Hearing abnormality", "sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", "Abnormal conjugate eye movement", "Strabismus", - "sensory perception of light stimulus", - "abnormal sensory perception of light stimulus", "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", - "Abnormality of globe size", - "Abnormality of eye movement", "cranial nerve related reflex", - "Abnormal vestibulo-ocular reflex", "Abnormal vestibular function", + "Abnormality of eye movement", "abnormality of ear physiology", + "eye movement", "abnormal eye movement", "abnormal physiologic nystagmus", - "eye movement", "abnormal vestibulo-ocular reflex", - "shape uterus", - "abnormal uterus", - "female organism", + "Abnormal vestibulo-ocular reflex", "internal female genitalia", "abnormal internal female genitalia morphology", - "Abnormality of the female genitalia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "female organism", + "abnormal uterus", "abnormal female reproductive system", - "oviduct", "bicornuate anatomical entity", - "uterus", + "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", + "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", - "manual digit 1 digitopodial skeleton", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "manual digit 1", "abnormal female reproductive system morphology", "digit 1 digitopodial skeleton", "skeleton of manual acropodium", "skeleton of manual digitopodium", - "Bicornuate uterus", - "abnormal behavior", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", "body part movement", "neuromuscular process", "voluntary musculoskeletal movement", "kinesthetic behavior", - "increased qualitatively response to stimulus", - "abnormal voluntary musculoskeletal movement", - "Hyperreflexia", - "reflex", + "multicellular organismal movement", "Abnormality of movement", + "abnormal voluntary musculoskeletal movement", "Recurrent urinary tract infections", "involuntary movement behavior", - "multicellular organismal movement", + "Bicornuate uterus", + "abnormal behavior", + "Hyperreflexia", + "increased qualitatively response to stimulus", + "reflex", "abnormal response to external stimulus", "decreased embryo development", "abnormal embryo development", - "Abnormal umbilicus morphology", - "Hernia", - "Hernia of the abdominal wall", + "herniated abdominal wall", "Abnormality of connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", "Abnormality of the abdominal wall", + "Hernia", + "herniated anatomical entity", + "Hernia of the abdominal wall", + "Abnormal umbilicus morphology", "umbilicus", "connective tissue", - "herniated anatomical entity", - "herniated abdominal wall", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "abnormal amniotic fluid", - "Abnormality of prenatal development or birth", - "Renal insufficiency", - "late embryo", - "Oligohydramnios", - "amniotic fluid", + "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", - "abnormal cardiac atrium morphology", - "abnormal interatrial 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", - "interventricular septum", "abnormal hematopoietic cell morphology", "Abnormal connection of the cardiac segments", - "abnormally increased volume of anatomical entity", "Ventricular hypertrophy", "abnormal pulmonary valve morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "cardiac septum", + "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", - "abnormal cardiac septum morphology", - "hypertrophic cardiac ventricle", "hypertrophic heart right ventricle", + "heart layer", "Abnormal myocardium morphology", "layer of muscle tissue", "abnormal myocardium morphology", - "heart layer", "abnormal abdominal wall", "embryonic cardiovascular system", "heart vasculature", "response to stimulus", "ductus arteriosus", - "abnormal coronary vessel morphology", "abnormal number of anatomical enitites of type myeloid cell", "thoracic segment blood vessel", "coronary vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", + "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", "abnormal incomplete closing of the ductus arteriosus", @@ -7366,187 +7355,175 @@ def autocomplete_response(): "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", - "aorta", "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", - "shape longitudinal arch of pes", "Pes planus", "flat anatomical entity", - "abnormally fused anatomical entity and pedal digit", "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", - "neurocranium bone", "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", - "neurocranium", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal head bone morphology", - "abnormal shape of frontal cortex", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", "abnormal vault of skull", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", + "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", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", "vertebral column", - "vertebra", + "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 neural tube 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", - "tube formation", - "neural tube", - "presumptive structure", "Abnormality of the inner ear", "abnormal vertebral column morphology", - "face", - "aplasia or hypoplasia of manual digit", - "Abnormality of the vasculature", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "Vertebral arch anomaly", + "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 systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal common carotid artery plus branches morphology", - "jaw region", - "artery", - "abnormal anatomical entity 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", - "Abnormality of the orbital region", - "roof of mouth", "paralysed cranial nerve", - "Abnormal cranial nerve physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal neocortex morphology", - "decreased biological_process", - "Eukaryota", - "Eumetazoa", - "Aplasia/Hypoplasia affecting the uvea", - "anterior uvea", - "vestibulo-auditory system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "head bone", - "shape digit", - "multi-tissue structure", - "bodily fluid", - "abnormal peripheral nervous system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "appendage girdle complex", - "subdivision of head", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "Abnormal morphology of ulna", - "Aplasia/Hypoplasia of the iris", - "mouth", - "spinal cord", - "appendicular skeleton", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "abnormally formed anatomical entity", - "absent sperm", + "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", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "Abnormality of limbs", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "appendage girdle complex", + "subdivision of head", "ulna endochondral element", "abnormal shape of cornea", "abnormal forebrain morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "neural tube formation", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "Anal atresia", - "postcranial axial skeletal system", - "Clubbing of toes", - "Abnormal uvea 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", - "zeugopod", - "skeletal element", + "Abnormal forebrain morphology", "paired limb/fin", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "bone element", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal digestive system morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", "septum", "Abnormality of limb bone morphology", - "Abnormal forearm bone morphology", - "root", - "Abnormal forebrain morphology", "developing anatomical structure", "skeleton of limb", "forelimb zeugopod skeleton", @@ -7554,51 +7531,75 @@ def autocomplete_response(): "subdivision of oviduct", "limb bone", "pectoral appendage skeleton", - "Abnormal blood vessel morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", + "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 vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", "abnormal cardiovascular system", "Abnormal reproductive system morphology", "abnormal blood vessel morphology", "abnormal parasympathetic nervous system morphology", "abnormal embryo morphology", "Abnormal venous morphology", - "Aplasia/Hypoplasia affecting the eye", "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", - "Abnormality of the forehead", - "intromittent organ", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", "organism", "secondary palate", - "penis", - "Orofacial cleft", - "digestive system element", "autopod bone", "Neurodevelopmental abnormality", "manual digit phalanx endochondral element", @@ -7608,30 +7609,11 @@ def autocomplete_response(): "abnormal cardiovascular system morphology", "Abnormality of mental function", "nervous system process", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "abnormality of internal male genitalia physiology", - "decreased length of forelimb zeugopod bone", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", + "skeleton of digitopodium", "Abnormal preputium morphology", - "Neural tube defect", - "organ system subdivision", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", "forelimb bone", "Abnormal uvula morphology", - "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", "ventricular system of central nervous system", "Abnormal shape of the frontal region", "central nervous system", @@ -7642,6 +7624,14 @@ def autocomplete_response(): "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", @@ -7649,53 +7639,56 @@ def autocomplete_response(): "abnormal heart layer morphology", "Abnormal frontal bone morphology", "Abnormality of lower limb joint", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", + "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", - "cerebrospinal fluid", "abnormal nervous system", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "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", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal voluntary movement behavior", - "tissue", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", + "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", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "embryo", - "Absent testis", - "exocrine system", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", "phenotype by ontology source", "Abnormality of the male genitalia", "Abnormality of blood and blood-forming tissues", @@ -7705,150 +7698,57 @@ def autocomplete_response(): "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", - "anatomical system", - "upper digestive tract", - "dorsum", - "cranial nerve", - "testis", - "reproductive structure", - "abnormal ulna morphology", - "gonad", - "Decreased anatomical entity mass density", - "ganglion", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "iris", - "absent gamete", - "naris", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "internal male genitalia", - "digestive system", - "curved anatomical entity", - "decreased length of long bone", - "material entity", - "increased reflex", - "long bone", + "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", - "system process", - "male gamete", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "entire sense organ system", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "organ", - "pedal digit plus metapodial segment", - "occurrent", - "abnormal male reproductive organ morphology", - "pedal digit phalanx endochondral element", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "sensory system", - "absent sperm in the independent continuant", - "pelvic region element", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "reproduction", - "vessel", - "lateral structure", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "All", - "Abnormal bone structure", - "male reproductive organ", - "abnormal blood cell morphology", - "abnormal cell", - "disconnected anatomical group", - "upper limb segment", - "biological_process", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "delayed biological_process", - "systemic artery", - "organism substance", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal leukocyte morphology", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "neuron projection bundle", - "Abnormal spinal cord morphology", - "external male genitalia", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "independent continuant", - "anatomical line between pupils", - "abnormal number of anatomical enitites of type anatomical entity", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "hepatobiliary system", - "subdivision of skeletal system", - "Abnormal external genitalia", "pulmonary valve", "cellular organisms", "vertebral element", @@ -7856,54 +7756,144 @@ def autocomplete_response(): "bone of free limb or fin", "abnormal pedal digit morphology", "abnormal ear", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "abnormal gamete generation", - "Abnormality of the curvature of the cornea", + "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", - "limb", - "respiratory system", - "hip joint", + "abnormal peripheral nervous system morphology", + "bodily fluid", + "multi-tissue structure", "abnormal ear morphology", "abnormal number of anatomical enitites of type sperm", - "Abnormality of the cardiovascular system", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "dorsal region element", - "abnormal opening of the anatomical entity", + "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", - "multicellular anatomical structure", - "hematopoietic system", "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", - "internal genitalia", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal tracheobronchial tree morphology", "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Abnormal ear morphology", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "abnormal internal genitalia", - "ocular surface region", + "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", @@ -7914,80 +7904,24 @@ def autocomplete_response(): "anus atresia", "abnormal skull morphology", "Short long bone", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "neural tube development", - "external genitalia", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal limb bone morphology", - "tunica fibrosa of eyeball", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "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", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormal esophagus morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "process", + "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", - "Abnormality of the nose", - "developmental process involved in reproduction", "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", "aplasia or hypoplasia of anatomical entity", "limb long bone", "compound organ", "eye", - "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 anterior uvea morphology", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "cerebral cortex", - "tracheobronchial tree", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the peripheral nervous system", - "trunk region element", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", + "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", @@ -7995,53 +7929,129 @@ def autocomplete_response(): "Short palpebral fissure", "Abnormal skeletal morphology", "increased pigmentation", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal bone element mass density", - "main body axis", - "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", - "external soft tissue zone", - "digit plus metapodial segment", - "head", + "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", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal heart morphology", - "appendage girdle region", - "anatomical structure morphogenesis", - "abnormal limb bone", - "abnormal spinal cord morphology", - "Hypogonadism", - "arm bone", - "urethral opening", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "sense organ", + "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", - "abnormality of camera-type eye physiology", - "organism subdivision", "subdivision of digestive tract", "Abnormal pinna morphology", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "respiratory airway", - "abnormal secondary palate 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", @@ -8053,46 +8063,80 @@ def autocomplete_response(): "anterior chamber of eyeball", "abnormal development of anatomical entity", "increased biological_process", - "abnormal postcranial axial skeleton morphology", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "embryo development", - "brain gray matter", - "Abnormal tracheobronchial morphology", + "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", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", - "thoracic segment of trunk", - "pes bone", - "abnormal bone of pelvic complex morphology", - "arm", - "Short stature", - "Abnormality of the vertebral column", - "abnormal digestive system", + "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 morphology of the great vessels", - "pectoral complex", - "flat longitudinal arch of pes", + "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", @@ -8108,192 +8152,121 @@ def autocomplete_response(): "Aplasia/Hypoplasia of the testes", "left cardiac chamber", "Slanting of the palpebral fissure", - "Hip dislocation", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal long bone morphology", - "digitopodium bone", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "lower respiratory tract", - "visual system", - "abnormal camera-type eye morphology", + "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", "orbital region", - "multicellular organism development", - "Ventriculomegaly", - "Abnormal anterior eye segment morphology", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal bony vertebral centrum morphology", "abnormal alimentary part of gastrointestinal system", "Abnormal carotid artery morphology", "Astigmatism", - "circulatory organ", - "uvea", - "shape cornea", - "paired limb/fin segment", "pelvic girdle region", - "simple eye", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", "abnormal posterior nasal aperture morphology", "curvature anatomical entity", + "abnormal camera-type eye morphology", "abnormal orbital region", - "morphogenesis of an epithelium", - "epithelial tube morphogenesis", - "abnormal palpebral fissure", - "abnormal tube formation", - "circulatory system", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "multicellular organismal-level homeostasis", - "anterior segment of eyeball", - "chordate embryonic development", - "skeleton of digitopodium", - "embryonic epithelial tube formation", - "cranium", - "dermatocranium", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "neural tube closure", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "manus", - "abnormal nose morphology", - "embryonic tissue", - "ileum", - "Ventricular septal defect", - "small intestine", - "Abnormal jaw morphology", - "irregular bone", - "Meckel diverticulum", - "trunk bone", - "Azoospermia", - "Abnormal small intestine morphology", - "skeleton of lower jaw", - "abnormal small intestine", + "abnormal bony vertebral centrum morphology", + "simple eye", "anus", "Abnormal skull morphology", - "Abnormal anus morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "abnormal anus", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", "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", - "Weight loss", - "Decreased body weight", - "autopodial extension", "growth", "cardiac valve", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", + "Decreased body weight", + "autopodial extension", "abnormal forelimb zeugopod bone", "valve", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", "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", "gamete", "upper jaw region", - "Abnormal eyelid morphology", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "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", - "palpebral fissure", "Abnormal ocular adnexa morphology", - "Upslanted palpebral fissure", - "manual digit plus metapodial segment", - "Abnormal bone ossification", + "Abnormal eyelid morphology", "female reproductive organ", "ocular adnexa", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", - "opaque anatomical entity", + "palpebral fissure", + "abnormal lens of camera-type eye morphology", + "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "Cataract", - "abnormal lens of camera-type eye morphology", - "Atrial septal defect", - "drooping anatomical entity", + "opaque anatomical entity", "clavate digit", "shape eyelid", + "Atrial septal defect", + "drooping anatomical entity", "Ptosis", "Abnormal cornea morphology", "gland", - "abnormal artery morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal penis morphology", - "abnormal cranium morphology", "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", + "cranial skeletal system", + "nose", + "endocrine gland", + "sperm", + "internal naris", "Neoplasm by anatomical site", "olfactory system", "Abnormality of the nervous system", @@ -8302,81 +8275,66 @@ def autocomplete_response(): "bony vertebral centrum", "abnormal olfactory system morphology", "abnormal nose", - "sperm", - "internal naris", - "olfactory organ", - "cranial skeletal system", - "nose", - "endocrine gland", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", "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", - "excretory system", - "abnormal urethra", - "renal system", "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", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", - "Scoliosis", "Abnormal curvature of the vertebral column", - "tube closure", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", + "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", - "Abnormal vascular morphology", - "Abnormality of skull size", - "Abnormal pulmonary valve morphology", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "telencephalon", - "Decreased head circumference", + "Eumetazoa", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", "abnormality of renal system physiology", "abnormal esophagus morphology", "abnormal size of anatomical entity", - "Leukopenia", - "abnormal hematopoietic system", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal number of anatomical enitites of type hematopoietic cell", "digit 1 plus metapodial segment", "synovial joint", "Abnormality of the anus", @@ -8385,26 +8343,32 @@ def autocomplete_response(): "abnormally decreased number of cell", "Functional abnormality of the inner ear", "pedal digit", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", + "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", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "Myelodysplasia", + "haemolymphatic fluid", + "abnormal hematopoietic system", + "delayed growth", "abnormal immune system morphology", "Hematological neoplasm", "Reduced bone mineral density", - "abnormal size of brain ventricle", - "nerve", - "Frontal bossing", - "zone of organ", - "increased size of the brain ventricle", + "Myelodysplasia", "Abnormality of vision", "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", @@ -8413,43 +8377,63 @@ def autocomplete_response(): "pedal digit bone", "cardiac atrium", "Abnormality of the integument", - "delayed growth", + "abnormal size of brain ventricle", + "zone of organ", + "increased size of the brain ventricle", + "liver", + "abnormal endocrine system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", "Abnormality of the endocrine system", "forelimb", "skeleton of pelvic complex", - "abnormal endocrine system", "abdominal segment of trunk", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "glandular system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", - "Decreased fertility", + "Abnormality of the liver", "behavior", "abdomen element", - "Abnormality of the liver", - "liver", + "glandular system", "abnormal hypothalamus-pituitary axis", - "increased anatomical entity length in independent continuant", - "Hypertelorism", + "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", + "Hypertelorism", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", "immaterial anatomical entity", "abnormal anatomical entity, curved", "anatomical line", - "non-material anatomical boundary", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", + "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", - "duodenum", - "Abnormality of the lower limb", + "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", @@ -8458,73 +8442,104 @@ def autocomplete_response(): "skeleton of pes", "abnormal incomplete closing of the interventricular septum", "Abnormal toe morphology", - "pes", - "abnormal phalanx morphology", - "Choanal atresia", - "acropodial skeleton", - "digitopodium region", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", "Duodenal stenosis", "Abnormal foot morphology", "Hypermelanotic macule", - "digit", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "abnormal digit morphology", - "shape forehead", - "posterior region of body", - "individual digit of digitopodial skeleton", - "phalanx endochondral element", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal digit", "leg", "abnormally decreased number of anatomical entity in the blood", "phalanx of pes", + "abnormal long bone morphology", + "digitopodium bone", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", "phalanx", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal autopod region morphology", - "nervous system cell part layer", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", "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", + "digitopodium region", "genitourinary system", "Limb undergrowth", - "Abnormality of the kidney", "abnormal kidney morphology", "skull", "femur", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormality of the kidney", "Decreased fertility in males", - "primary circulatory organ", - "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", + "prominent anatomical entity", + "abnormal roof of mouth morphology", "anatomical projection", + "abnormal midface morphology", + "mouth", + "Aplasia/Hypoplasia of the iris", + "Abnormal oral cavity morphology", "Abnormal aortic valve morphology", "midface", "abnormal soft palate morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", "Abnormal soft palate morphology", "shape palpebral fissure", "abnormal palatine uvula morphology", "anatomical cavity", - "abnormal midface morphology", - "palatine uvula", - "Abnormal erythrocyte morphology", - "soft palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal asymmetry of face", - "abnormal integument", + "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", + "Abnormal hip joint morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "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", "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", @@ -8535,78 +8550,66 @@ def autocomplete_response(): "abnormal cell morphology", "anatomical collection", "Macule", + "abnormal cornea, curved", + "pigmentation", "eyeball of camera-type eye", "abnormal upper urinary tract", "abnormal skin of body", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", "Abnormality of skin morphology", - "integument", "abnormality of kidney physiology", "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "increased biological_process in skin of body", - "abnormal cornea, curved", - "pigmentation", - "increased pigmentation in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal manus", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the hand", "skeleton of manus", + "Aplasia/Hypoplasia of fingers", "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "Aplasia/Hypoplasia of fingers", - "abnormal manus", "decreased pigmentation in skin of body", "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/hypoplasia involving the skeleton", - "abnormal manus morphology", "vascular system", "abnormal anterior segment of eyeball morphology", "aplasia or hypoplasia of skeleton", + "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", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", "appendage", "abnormally fused digit and digit", "Clinodactyly of the 5th finger", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", "biogenic amine secreting cell", "ossification", "Abnormality of bone mineral density", - "manual digit 5", "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", "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", - "deviation of digit towards the middle", - "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 manual digit", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "manual digit 5", "hypertrophic multicellular anatomical structure", "dermal skeletal element", "decreased length of anatomical entity in independent continuant", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "forelimb zeugopod bone hypoplasia", + "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", @@ -8614,2694 +8617,2691 @@ def autocomplete_response(): "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", "increased height of the secondary palate", "Tetralogy of Fallot", "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "articulation", - "skeletal joint dislocation", - "articular system", - "peripheral nervous system", - "abnormal hip joint morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", + "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", - "skin of body", + "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", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "abnormal hindlimb stylopod morphology", - "Abnormality of femur 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", - "stylopod", - "upper leg bone", + "Abnormality of femur morphology", "Abnormality of enteric ganglion morphology", - "Unusual infection", - "abnormal enteric ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "enteric ganglion", + "abnormal intestine morphology", "abnormal face morphology", "axial skeletal system", - "abnormal intestine morphology", "autonomic ganglion", - "parasympathetic nervous system", - "Abnormality of the autonomic nervous system", - "autonomic nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", + "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 vascular system morphology", - "cortex of cerebral lobe", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "abnormal roof of mouth morphology", - "prominent anatomical entity", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", ], }, { - "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", + "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 RAD51C gene.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", "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:0000028", + "HP:0000957", + "HP:0000252", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0002860", + "HP:0001045", ], "has_phenotype_label": [ - "Chromosome breakage", "Hypoplasia of the radius", "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", - "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", + "Cafe-au-lait spot", + "Microcephaly", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Squamous cell carcinoma", + "Vitiligo", ], - "has_phenotype_count": 15, + "has_phenotype_count": 20, "has_phenotype_closure": [ - "NCBITaxon:33154", - "HP:0002242", - "UPHENO:0002714", - "UPHENO:0087006", - "NCBITaxon:2759", - "UBERON:5001463", - "UPHENO:0009382", - "UBERON:0008837", - "UPHENO:0002905", - "HP:0000077", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "UBERON:0019221", - "UPHENO:0081466", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0001015", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UPHENO:0008523", - "UPHENO:0006910", - "UBERON:0005451", - "UBERON:0001442", - "HP:0000001", - "UPHENO:0018390", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002101", - "UPHENO:0075195", - "UPHENO:0086132", - "HP:0006501", - "UBERON:0008785", - "GO:0010558", - "UPHENO:0002786", - "UBERON:0004710", - "UPHENO:0075893", - "UPHENO:0050108", - "HP:0000107", - "UBERON:0004708", - "UBERON:0000061", - "GO:1901360", + "HP:0002860", + "HP:0008069", + "HP:0000086", + "UBERON:0005156", "GO:0032504", - "UPHENO:0075159", - "HP:0040070", - "HP:0033127", - "UBERON:0001630", - "HP:0011425", - "UBERON:0012140", - "UBERON:0010363", - "GO:0044237", - "UBERON:0001474", + "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", 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"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", - "HP:0011805", - "UPHENO:0086682", + "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", - "HP:0002250", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "UPHENO:0084448", - "UBERON:0001245", - "GO:0006807", - "UPHENO:0002839", - "HP:0025031", - "UBERON:0036295", - "UBERON:0004907", - "HP:0000924", - "UBERON:0004121", - "HP:0034915", - "UPHENO:0063599", + "GO:0008150", + "UBERON:0006983", + "UBERON:0002268", "GO:0031326", "UPHENO:0065599", - "HP:0034058", - "UBERON:0000064", + "UPHENO:0084727", + "UPHENO:0087430", + "UPHENO:0084715", + "CL:0000300", + "HP:0012130", + "UPHENO:0041629", + "UBERON:0011143", + "UBERON:0005177", "UBERON:0001008", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "HP:0010946", - "UPHENO:0080382", - "GO:0048609", - "GO:0003006", - "UBERON:0001224", - "HP:0001197", - "UBERON:0000922", - "HP:0010945", - "UPHENO:0075949", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0084132", - "UPHENO:0076718", - "UPHENO:0005651", - "HP:0003241", - "HP:0010935", - "UPHENO:0049940", - "HP:0000119", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0000323", "UPHENO:0087427", - "HP:0034242", - "UBERON:8450002", - "UBERON:0000916", + "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", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0034923", - "UPHENO:0084834", - "UBERON:0004054", - "UBERON:0008962", + "UBERON:0010323", + "UBERON:0000489", + "GO:0031052", + "UBERON:8450002", + "HP:0000085", "UBERON:0001463", + "UBERON:0008962", + "UBERON:0008907", "HP:0012210", - "UPHENO:0076779", - "UBERON:0010538", - "UPHENO:0001478", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "UBERON:0000079", - "UPHENO:0086201", - "UPHENO:0085873", - "CL:0000586", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0010944", - "HP:0001510", - "UPHENO:0086023", - "UPHENO:0080369", - "CL:0000408", - "GO:0007283", - "UBERON:0000481", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "CL:0000015", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0000991", - "HP:0011024", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", - "UPHENO:0080377", - "HP:0000032", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "UBERON:0000473", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "UPHENO:0046411", - "UPHENO:0046707", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009623", - "UBERON:0012361", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009484", - "UPHENO:0084829", - "UPHENO:0080351", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0003466", - "UPHENO:0069254", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", - "HP:0001507", - "UPHENO:0049874", - "UPHENO:0000543", - "UBERON:0013522", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "HP:0002589", - "UPHENO:0063629", - "HP:0011100", - "HP:0012732", - "NCBITaxon:1", - "UPHENO:0084124", - "UPHENO:0087346", - "HP:0009777", - "UBERON:0004921", - "UBERON:0000160", - "HP:0002034", - "UPHENO:0002725", - "HP:0012718", - "HP:0025023", + "GO:0006996", + "HP:0000079", + "GO:0048523", + "GO:0009889", + "HP:0003220", + "UPHENO:0050113", ], "has_phenotype_closure_label": [ - "rectum atresia", - "abnormal rectum", - "Abnormal intestine morphology", - "lower digestive tract", - "intestine", - "rectum", - "internal anal region", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "subdivision of tube", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Metazoa", - "Rectal atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Chronic kidney disease", - "Abnormal renal physiology", - "Renal insufficiency", - "Abnormality of the urinary system physiology", - "Intestinal atresia", - "non-functional kidney", - "growth", - "decreased height of the anatomical entity", - "digestive system element", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "Renal cyst", - "deviation of manual digit", - "intestine atresia", - "Proximal placement of thumb", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "Short finger", - "developmental process", - "reproductive process", - "abnormally localised testis", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "developmental process involved in reproduction", - "abnormally localised anatomical entity", - "abnormal reproductive system", - "absent gamete", - "sperm", - "male organism", - "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", + "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", - "internal male genitalia", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type sperm", "Azoospermia", - "Abnormality of the male genitalia", + "male gamete generation", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", "male germ cell", - "abnormality of multicellular organism height", "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "organism substance", + "Abnormal testis morphology", "semen", - "abnormal male reproductive system", - "male reproductive system", "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "decreased developmental process", - "reproductive organ", - "spermatogenesis", - "gamete generation", + "Abnormality of reproductive system physiology", "absent anatomical entity in the semen", - "abnormal gamete", - "abnormal number of anatomical enitites of type cell", + "Abnormal external genitalia", + "reproductive process", + "abnormally localised anatomical entity in independent continuant", + "abnormal internal genitalia", "external genitalia", "internal genitalia", "gonad", - "Abnormality of the genital system", - "abnormal internal genitalia", + "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", - "Abnormality of reproductive system physiology", "gamete", - "obsolete multicellular organism reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "changed biological_process rate", - "absent germ cell", - "abnormal renal system morphology", - "Abnormality of prenatal development or birth", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "kidney", + "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", - "abnormal genitourinary system", - "increased size of the renal pelvis", - "late embryo", - "abnormal renal system", - "Abnormal renal morphology", - "embryo", - "renal pelvis", - "Abnormality of the kidney", - "renal pelvis/ureter", - "disconnected anatomical group", - "abdominal segment of trunk", - "abdomen", - "decreased length of digit", - "anatomical cluster", - "Abnormality of the upper urinary tract", - "renal system", - "Abnormal fetal genitourinary system morphology", - "organ part", - "increased size of the anatomical entity in independent continuant", - "Abnormal fetal morphology", - "Abnormal renal pelvis morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "abnormal renal pelvis", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "abnormal closing of the anatomical entity", - "abnormal digestive system", - "deviation of manual digit 1", - "digestive tract", + "developmental process involved in reproduction", "multicellular organismal reproductive process", - "anatomical conduit", - "anus", - "abnormal digestive system morphology", - "Neoplasm by anatomical site", - "digestive system", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "musculature of upper limb", - "haploid cell", - "appendage musculature", - "musculature of body", - "Abnormality of the musculature of the upper limbs", - "cavitated compound organ", - "abnormal musculature of upper limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature of the hand", - "germ line cell", - "thenar eminence hypoplasia", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "abnormal musculature of limb", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "musculature of manus", - "abnormal musculature", - "abnormal heart morphology", - "Cryptorchidism", - "heart plus pericardium", - "Abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Fetal ultrasound soft marker", - "excretory system", - "circulatory system", - "body proper", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "limb endochondral element", - "subdivision of digestive tract", - "delayed biological_process", - "Short forearm", - "increased size of the anatomical entity", - "abnormal limb bone", - "limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal appendicular skeleton morphology", - "endochondral element", - "pectoral appendage", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "abnormal long bone morphology", - "forelimb zeugopod bone hypoplasia", - "anatomical entity hypoplasia in independent continuant", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "Abnormality of the musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "abnormal testis morphology", - "forelimb zeugopod", - "male reproductive organ", - "cellular component organization or biogenesis", - "multicellular anatomical structure", - "forelimb endochondral element", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "musculature of limb", - "negative regulation of biosynthetic process", - "decreased length of forelimb zeugopod bone", - "orifice", + "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", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "musculature of pectoral complex", - "thoracic cavity element", - "multicellular organism", - "absent anatomical entity in the multicellular organism", + "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", - "cellular organisms", - "Abnormality of the musculature", - "thoracic segment of trunk", - "abnormal digit", - "programmed DNA elimination", - "digit", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", "metabolic process", - "multi-limb segment region", - "abnormal cellular 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 upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "Abnormal internal genitalia", - "regulation of cellular process", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "abnormal growth", - "independent continuant", - "abnormal intestine morphology", - "aplastic manual digit 1", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "anal region", - "paired limb/fin skeleton", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "Small thenar eminence", + "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", - "organelle organization", - "Abnormal anus morphology", - "protein-DNA complex organization", - "arm", - "abnormal kidney", + "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", - "abnormal manus", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", - "regulation of macromolecule metabolic process", - "acropodium region", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "Deviation of finger", - "negative regulation of metabolic process", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Aplasia/hypoplasia involving bones of the upper limbs", - "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", - "biological_process", - "Abnormal forearm bone morphology", - "Abnormality of the skeletal system", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "continuant", - "Abnormality of limbs", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "material entity", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "upper limb segment", - "appendicular skeleton", - "subdivision of organism along main body axis", - "abnormal biological_process", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "Abnormal long bone morphology", - "skeleton of limb", - "muscle structure", - "material anatomical entity", - "external male genitalia", - "chromatin organization", - "pectoral appendage musculature", - "abnormal metabolic process", - "abnormal forelimb zeugopod morphology", - "cellular metabolic process", - "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", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", + "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", - "absent manual digit", - "abnormal chromatin organization", - "Chromosome breakage", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "bone element", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", - "forelimb skeleton", - "Abnormal cellular physiology", - "organic substance metabolic process", - "obsolete nitrogen compound metabolic process", - "abnormal upper urinary tract", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", "musculoskeletal system", - "delayed growth", - "abnormal cardiovascular system", - "skeletal system", - "phenotype", - "nucleobase-containing compound metabolic process", "absent digit", - "decreased length of long bone", - "primary metabolic process", - "skeletal element", - "zeugopod", - "autopodial extension", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "process", - "nucleic acid metabolic process", - "aplasia or hypoplasia of skeleton", - "forelimb", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal limb bone morphology", - "radius endochondral element", - "Abnormality of digestive system morphology", - "thenar eminence", - "manus", - "abnormal limb", - "compound organ", - "zeugopodial skeleton", - "obsolete cell", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal radius bone morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of the anus", - "organ system subdivision", - "abnormal gamete generation", - "Abnormal morphology of the radius", + "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", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "palmar/plantar part of autopod", - "external soft tissue zone", - "Abnormality of limb bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "occurrent", - "organ", - "heart", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "radius bone", - "deviation of anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "Aplasia/hypoplasia involving forearm bones", - "forelimb long bone", - "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "limb", - "cell", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Upper limb undergrowth", - "limb skeleton subdivision", - "trunk region element", - "pectoral complex", - "Opisthokonta", - "paired limb/fin segment", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal skeletal system", - "forelimb zeugopod bone", + "U-shaped anatomical entity", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "Aplasia/Hypoplasia of the radius", "subdivision of skeleton", "endochondral bone", - "Aplasia/Hypoplasia of the radius", + "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", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "anatomical system", - "digit 1", - "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", - "skeleton of manus", - "cardiovascular system", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "agenesis of anatomical entity", - "Abnormality of the hand", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "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", - "cellular process", - "Abnormal digit morphology", - "absent anatomical entity", - "Short thumb", - "abnormal manual digit 1 morphology", - "digit 1 plus metapodial segment", - "abnormal digit 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 male reproductive organ morphology", - "autopodial skeleton", - "Finger aplasia", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "pectoral appendage skeleton", - "abnormal manus morphology", - "primary circulatory organ", - "digit 1 or 5", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "main body axis", - ], - }, - { - "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:0002860", - "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:0001045", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", + "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", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", + "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", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", - ], - "has_phenotype_count": 20, - "has_phenotype_closure": [ - "HP:0000086", - "GO:0022414", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0049367", - "UPHENO:0002598", - "UBERON:0004054", - "UBERON:0000473", - "UBERON:0001968", - "HP:0000078", - "UPHENO:0078452", - "GO:0048232", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0049701", - "GO:0032504", - "UPHENO:0086198", - "HP:0000035", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "UBERON:0004176", - "GO:0007283", - "GO:0007276", - "UPHENO:0087547", - "CL:0000408", - "UBERON:0003101", - "UPHENO:0050101", - "UPHENO:0002378", - "UPHENO:0049985", - "UPHENO:0085194", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "HP:0012243", - "HP:0000811", - "GO:0000003", - "UBERON:0005156", - "UPHENO:0003055", - "UPHENO:0049970", - "CL:0000586", - "UPHENO:0085873", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0087802", - "GO:0050954", - "HP:0000598", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005433", - "UPHENO:0052178", - "UPHENO:0050625", - "UPHENO:0005518", - "UPHENO:0052970", - "UBERON:0002105", - "HP:0012874", - "UPHENO:0002332", - "UPHENO:0081424", - "UPHENO:0081423", - "UPHENO:0080351", - "UPHENO:0075159", - "GO:0010556", - "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0065007", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "GO:0009892", - "GO:0090304", - "GO:0006996", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", - "GO:0010558", - "GO:0006325", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", - "GO:0050789", - "GO:0044238", - "UBERON:0011138", - "UBERON:0002513", - "GO:0048523", - "HP:0000079", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0002536", - "HP:0006501", - "HP:0000152", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0054970", - "UBERON:0001016", - "UPHENO:0020888", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0008523", - "UPHENO:0087518", - "GO:0043473", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0082682", - "NCBITaxon:1", - "HP:0001034", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "NCBITaxon:2759", - "UBERON:5001463", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "HP:0008069", - "UBERON:0019221", - "UBERON:0000467", - "UPHENO:0053588", - "UPHENO:0002240", - "UBERON:0004765", - "UBERON:0004053", - "UPHENO:0086005", - "UPHENO:0026183", - "HP:0000234", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0006910", - "HP:0031704", - "GO:0006807", - "UBERON:0005451", - "UPHENO:0080377", - "UBERON:0011137", - "UBERON:0004111", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0012141", - "UBERON:0002416", - "UBERON:0012128", - "HP:0011297", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "UBERON:0000465", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", - "UPHENO:0021517", - "HP:0000001", - "UPHENO:0087950", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "BFO:0000004", - "UPHENO:0075195", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0080126", - "HP:0000957", - "UBERON:0000481", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "UBERON:0003113", - "HP:0001574", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000075", - "HP:0009815", - "HP:0009601", - "UBERON:0003607", - "HP:0045060", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0081313", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0087973", - "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "UBERON:0006717", - "UPHENO:0001003", - "UBERON:0008785", - "HP:0009821", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0013765", - "UPHENO:0080382", - "HP:0001000", - "HP:0002817", - "UPHENO:0001001", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0010740", - "UPHENO:0088170", - "UPHENO:0081792", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "UBERON:0010708", - "UBERON:0000019", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "UBERON:0002386", - "UPHENO:0087472", - "UBERON:0000020", - "UBERON:0011249", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000365", - "GO:0009987", - "UPHENO:0081204", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "UBERON:0007272", - "UPHENO:0031839", - "UBERON:0000991", - "UBERON:0005944", - "UBERON:0034925", - "UPHENO:0004459", - "HP:0001903", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", - "UBERON:0001442", - "UPHENO:0074584", - "BFO:0000040", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0081790", - "HP:0100547", - "UPHENO:0084763", - "UBERON:0000062", - "UPHENO:0076703", - "UPHENO:0086589", - "UPHENO:0076791", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - "UPHENO:0084457", - "GO:0043933", - "UPHENO:0002896", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000153", - "UPHENO:0049873", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0085874", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0003811", - "UBERON:0002102", - "BFO:0000002", - "HP:0012639", - "UPHENO:0086633", - "UBERON:0011156", - "UBERON:0012140", - "HP:0000025", - "HP:0001172", - "UBERON:0011676", - "HP:0002973", - "CL:0001035", - "UPHENO:0002803", - "UBERON:0005172", - "UBERON:0012139", - "UPHENO:0012541", - "UPHENO:0003085", - "HP:0000153", - "HP:0007400", - "HP:0033127", - "HP:0000812", - "HP:0000240", - "UPHENO:0086635", - "HP:0040072", - "UBERON:0010912", - "CL:0000225", - "UBERON:0011582", - "UPHENO:0046707", - "UPHENO:0074575", - "HP:0002011", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0002833", - "UPHENO:0012274", - "UPHENO:0085118", - "UBERON:0002113", - "HP:0011314", - "HP:0005773", - "HP:0000366", - "UPHENO:0001002", - "HP:0012733", - "UPHENO:0080087", - "UBERON:0003460", - "UBERON:0000026", - "UPHENO:0021561", - "UBERON:0003606", - "UBERON:0002405", - "BFO:0000001", - "UPHENO:0002635", - "HP:0000080", - "UBERON:0010712", - "UPHENO:0046540", - "UPHENO:0074589", - "UPHENO:0076727", - "UBERON:0001423", - "UBERON:0004456", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001460", - "GO:0040007", - "HP:0009826", - "UBERON:0002529", - "UBERON:0002091", - "UPHENO:0081314", - "UPHENO:0020584", - "UPHENO:0080187", - "UBERON:0013702", - "GO:0003008", - "UBERON:0010538", - "HP:0009824", - "HP:0000252", - "UPHENO:0002880", - "UBERON:0012475", - "UPHENO:0085195", - "UBERON:0010000", - "UPHENO:0054577", - "UBERON:0002390", - "UPHENO:0082444", - "UBERON:0002204", - "UBERON:0002495", - "UBERON:0003278", - "UPHENO:0002751", - "UPHENO:0079872", - "UBERON:0010363", - "HP:0002977", - "UPHENO:0088166", - "GO:0044237", - "UBERON:0001440", - "UBERON:0004121", - "HP:0000924", - "BFO:0000141", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UPHENO:0087006", - "UPHENO:0085144", - "GO:0007600", - "UPHENO:0041075", - "HP:0001045", - "HP:0040070", - "UPHENO:0081755", - "UPHENO:0075198", - "UBERON:0002471", - "HP:0011961", - "GO:0043170", - "HP:0010938", - "HP:0008050", - "CL:0000151", - "UPHENO:0069254", - "UBERON:0003466", - "UPHENO:0046505", - "UPHENO:0041465", - "UBERON:0002090", - "UPHENO:0083646", - "UBERON:0001017", - "UBERON:0000047", - "HP:0025461", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0000970", - "UBERON:0004742", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0086172", - "HP:0002664", - "HP:0006265", - "UPHENO:0078606", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0081788", - "HP:0011793", - "UPHENO:0086023", - "HP:0001510", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0001456", - "HP:0005105", - "HP:0001507", - "UPHENO:0049874", - "UPHENO:0000543", - "HP:0012745", - "HP:0000492", - "UPHENO:0075220", - "UPHENO:0086595", - "UBERON:0034921", - "UBERON:0011584", - "UPHENO:0084987", - "HP:0006503", - "UBERON:0002104", - "UBERON:0003462", - "HP:0000315", - "UPHENO:0085189", - "UPHENO:0046753", - "UBERON:0003103", - "UPHENO:0080200", - "HP:0200007", - "HP:0000125", - "UPHENO:0002910", - "HP:0032039", - "HP:0030669", - "UBERON:0000161", - "UPHENO:0084761", - "HP:0001872", - "UBERON:0001819", - "UPHENO:0034770", - "UBERON:0034923", - "UPHENO:0076761", - "HP:0010461", - "UPHENO:0054567", - "HP:0045025", - "UPHENO:0041821", - "UPHENO:0020041", - "HP:0000271", - "UBERON:0001474", - "CL:0000329", - "UBERON:0001690", - "UPHENO:0086173", - "UPHENO:0077426", - "UPHENO:0085984", - "HP:0002715", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "HP:0031816", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UBERON:0019231", - "UBERON:0010364", - "UBERON:0013522", - "UBERON:0001710", - "HP:0020047", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0000479", - "UPHENO:0079876", - "UBERON:0001007", - "CL:0000000", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UBERON:0000079", - "HP:0001871", - "HP:0012145", - "UPHENO:0075997", - "UBERON:0002371", - "CL:0000458", - "UPHENO:0087089", - "CL:0000764", - "UPHENO:0085070", - "HP:0025354", - "CL:0000255", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0011159", - "GO:0071704", - "CL:0002242", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0063722", - "HP:0001881", - "GO:0016043", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0032502", - "UPHENO:0002832", - "HP:0032251", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "GO:0071840", - "HP:0002818", - "HP:0002813", - "HP:0000277", - "UPHENO:0046411", - "HP:0009122", - "HP:0000347", - "HP:0025031", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0004088", - "UBERON:0000025", - "UBERON:0012360", - "UBERON:0011158", - "UBERON:0010313", - "CL:0000015", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0011595", - "UPHENO:0053644", - "UBERON:0007842", - "UPHENO:0087924", - "UBERON:0007914", - "HP:0011821", - "UPHENO:0076803", - "UPHENO:0081091", - "UPHENO:0080165", - "HP:0009118", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UBERON:0003135", - "HP:0009116", - "UBERON:0003457", - "UPHENO:0081786", - "UPHENO:0076692", - "UPHENO:0069249", - "HP:0034261", - "GO:0050877", - "HP:0011927", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "GO:0031326", - "UPHENO:0065599", - "UBERON:0000466", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UPHENO:0084727", - "UPHENO:0076805", - "UPHENO:0088168", - "UPHENO:0084715", - "UPHENO:0087430", - "UBERON:0002268", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0002470", - "UBERON:0007827", - "CL:0000300", - "HP:0012130", - "UBERON:0001008", - "UPHENO:0041629", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "HP:0000085", - "UBERON:8450002", - "UBERON:0005173", - "UPHENO:0041226", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0008962", - "UBERON:0001463", - "UBERON:0008907", - "HP:0012210", - "UPHENO:0087427", - "UPHENO:0050113", - "GO:0008152", - ], - "has_phenotype_closure_label": [ - "Pelvic kidney", - "Ectopic kidney", - "reproductive process", - "Abnormal testis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male gamete generation", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "decreased developmental process", - "absent gamete", - "sperm", - "reproductive structure", - "decreased qualitatively developmental process", - "decreased spermatogenesis", - "external male genitalia", - "testis", - "Abnormal reproductive system morphology", - "Azoospermia", - "male germ cell", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "organism substance", - "semen", - "reproduction", - "abnormal testis morphology", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "abnormal location of anatomical entity", - "spermatogenesis", - "absent anatomical entity in the semen", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "abnormal gamete", - "Abnormality of reproductive system physiology", - "haploid cell", - "reproductive system", - "Cryptorchidism", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "abnormal internal genitalia", - "germ cell", - "gamete", - "abnormality of reproductive system physiology", - "absent germ cell", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal developmental process", - "sensory perception", - "decreased sensory perception of sound", - "abnormal sensory perception", - "Hearing abnormality", - "abnormality of anatomical entity physiology", - "ear", - "multicellular organismal process", - "sensory perception of sound", - "system process", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "cellular process", - "abnormal DNA metabolic process", - "Abnormality of head or neck", - "craniocervical region", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "regional part of nervous system", - "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", - "main body axis", - "abnormal kidney morphology", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "axial skeleton plus cranial skeleton", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "sensory system", - "abnormal nervous system", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "pigmentation", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormality of skin pigmentation", - "skeleton of limb", - "neural crest-derived structure", - "aplasia or hypoplasia of skull", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal integument", - "biological_process", - "obsolete multicellular organism reproduction", - "cellular organisms", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal myeloid cell morphology", - "abnormal manus morphology", - "Neoplasm", - "digit", - "Hyperpigmentation of the skin", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "gamete generation", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal immune system morphology", - "Absent thumb", - "abnormal autopod region morphology", - "agenesis of anatomical entity", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "skeleton of manus", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", - "organism", - "Neoplasm of the skin", - "anatomical system", - "segment of autopod", - "organic cyclic compound metabolic process", - "aplastic manual digit 1", - "dentary", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal size of anatomical entity", - "material anatomical entity", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "facial skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "multi-limb segment region", - "endochondral element", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "skeletal element", - "zeugopod", - "body proper", - "central nervous system", - "Abnormality of limb bone", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased size of the anatomical entity", - "limb", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "trunk region element", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "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", - "quality", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "primary metabolic process", - "Abnormality of the skin", - "forelimb endochondral element", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "abnormal craniocervical region morphology", - "continuant", - "lateral structure", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "compound organ", - "eye", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "forelimb zeugopod", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "appendage", - "root", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "subdivision of organism along appendicular axis", - "skull", - "limb skeleton subdivision", + "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", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "absent manual digit", - "abnormal radius bone morphology", - "organ system subdivision", - "decreased length of palpebral fissure", - "abnormal blood cell", - "erythrocyte", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "system", - "bone marrow cell", - "appendicular skeletal system", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "Aplasia/hypoplasia involving the skeleton", - "decreased qualitatively biological_process", - "anatomical entity", + "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", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "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", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "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", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "organism subdivision", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "skeletal system", - "motile cell", - "upper limb segment", - "appendicular skeleton", + "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", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", + "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", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "manual digit 1", - "regulation of metabolic process", - "autopodial extension", - "abnormal face", + "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:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "provided_by": "phenio_nodes", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "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", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0040012", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "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", + "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", + "GO:0010558", + "UPHENO:0002786", + "UBERON:0000062", + "HP:0006496", + "HP:0009778", + "HP:0005927", + "UPHENO:0049700", + "UBERON:0003101", + "UPHENO:0088186", + "HP:0009815", + "UBERON:0004708", + "UBERON:0006717", + "UPHENO:0001003", + "HP:0006503", + "UPHENO:0076724", + "UPHENO:0081451", + 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"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", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0025023", + "HP:0002034", + ], + "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", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "growth", + "decreased size of the multicellular organism", + "Renal cyst", + "intestine atresia", + "Proximal placement of thumb", + "deviation of manual digit", + "Short digit", "Eumetazoa", - "negative regulation of cellular metabolic process", "Eukaryota", "decreased length of manual digit", - "abnormal central nervous system morphology", + "decreased length of manual digit 1", + "Short finger", + "Abnormality of the genital system", "abnormal reproductive system", - "abnormal kidney", - "abnormal forebrain morphology", - "abnormal nervous system morphology", - "abnormal cell morphology", - "telencephalon", - "forebrain", - "blood cell", - "head bone", - "Abnormality of the genitourinary system", - "cranial skeletal system", - "postcranial axial skeleton", - "Decreased head circumference", - "pectoral complex", - "dermatocranium", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "mesoderm-derived structure", - "Squamous cell carcinoma", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", + "internal male genitalia", + "testis", + "abnormally localised testis", + "Azoospermia", + "Abnormality of the male genitalia", + "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", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "multi organ part structure", - "hemolymphoid system", + "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", - "Abnormality of the orbital region", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "orbital region", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal size of palpebral fissure", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "simple eye", + "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", + "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", + "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", + "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", - "biogenic amine secreting cell", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Abnormality of the face", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "abnormal hematopoietic system", - "Abnormality of the immune system", + "Abnormal forearm bone morphology", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "abnormal forelimb morphology", + "abnormal skeletal system", + "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", + "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", - "multicellular organism", - "Thrombocytopenia", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "skin of body", + "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", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "root", + "appendage", + "Abnormal internal genitalia", + "regulation of cellular process", + "abnormal growth", + "independent continuant", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "abnormal intestine morphology", + "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", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", + "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", + "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", - "Aplasia/hypoplasia affecting bones of the axial skeleton", + "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 qualitatively biological_process", + "abnormal cellular component organization", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "pectoral appendage", + "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", + "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", + "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", - "bone element hypoplasia in face", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "subdivision of tube", - "aplasia or hypoplasia of mandible", + "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", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal digit", - "lower jaw region", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", + "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", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "abnormal male reproductive system", - "abnormal mouth morphology", - "mouth", - "abnormal mandible morphology", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "Abnormality of body height", - "tube", - "Abnormality of the genital system", - "intramembranous bone", + "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", - "bone of craniocervical region", - "anatomical entity hypoplasia in face", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", + "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", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", + "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", "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "Short finger", - "Short digit", - "anterior region of body", - "decreased length of manual digit 1", - "Abnormal nasal tip morphology", - "aplastic anatomical entity", - "Bulbous nose", - "Abnormal external nose morphology", - "entire sense organ system", - "abnormal external nose morphology", - "nose", - "immaterial anatomical entity", - "Abnormality of the nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "anatomical point", - "olfactory organ", - "abnormal erythrocyte morphology", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "anatomical system", + "anal region", + "paired limb/fin skeleton", + "compound organ", + "obsolete cell", + "zeugopodial skeleton", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal gamete generation", "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "excretory system", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "Abnormality of the kidney", - "Horseshoe kidney", - "developmental process", - "negative regulation of metabolic process", + "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", - "shape kidney", - "abnormal renal system", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", + "manual digit 1 plus metapodial segment", + "cardiovascular system", "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal chromatin organization", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "cellular component organization", + "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", + "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", ], }, { @@ -11324,11 +11324,10 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0001942", "HP:0003648", "HP:0001324", - "HP:0003155", + "HP:0002749", "HP:0002148", "HP:0000124", "HP:0003109", @@ -11336,17 +11335,17 @@ def autocomplete_response(): "HP:0002748", "HP:0034359", "HP:0003076", + "HP:0003155", "HP:0003355", "HP:0004322", "HP:0003126", "HP:0000083", ], "has_phenotype_label": [ - "Osteomalacia", "Metabolic acidosis", "Lacticaciduria", "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", + "Osteomalacia", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", @@ -11354,6 +11353,7 @@ def autocomplete_response(): "Rickets", "Impaired renal tubular reabsorption of phosphate", "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", "Aminoaciduria", "Short stature", "Low-molecular-weight proteinuria", @@ -11361,213 +11361,171 @@ def autocomplete_response(): ], "has_phenotype_count": 16, "has_phenotype_closure": [ - "UPHENO:0068565", "CHEBI:37622", - "CHEBI:15841", - "CHEBI:32988", - "CHEBI:16541", "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:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - "UPHENO:0000541", "UPHENO:0075159", - "UPHENO:0068169", + "UPHENO:0051670", "CHEBI:35605", - "UPHENO:0068495", - "CHEBI:33575", + "CHEBI:36587", + "UPHENO:0068538", + "UPHENO:0068040", + "UPHENO:0068169", + "HP:0003355", "CHEBI:24651", + "CHEBI:33575", + "UPHENO:0068495", "UPHENO:0046286", - "HP:0003355", - "CHEBI:36587", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068091", "HP:0031980", - "UPHENO:0051670", "CHEBI:33709", - "UPHENO:0068040", - "CHEBI:33608", - "UPHENO:0068144", - "UPHENO:0068538", + "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", "UPHENO:0080658", "UPHENO:0000543", "HP:0003076", "HP:0000002", "HP:0033354", "UPHENO:0068054", + "CHEBI:33285", + "CHEBI:50860", "CHEBI:36962", "CHEBI:25806", - "CHEBI:17234", - "CHEBI:35381", "CHEBI:18133", - "HP:0034359", - "UPHENO:0051191", - "CHEBI:33917", - "HP:0011038", - "GO:0003008", - "GO:0003014", - "UPHENO:0051280", - "HP:0011036", - "CHEBI:33504", - "CHEBI:33694", - "UPHENO:0077821", - "CHEBI:36357", - "PR:000018263", - "CHEBI:33675", - "HP:0004379", - "HP:0000079", - "CHEBI:35352", - "HP:0100529", - "UPHENO:0068971", - "CHEBI:33695", + "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", - "CHEBI:50860", - "HP:0012379", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", - "PR:000064867", - "UPHENO:0046362", - "UPHENO:0081777", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", + "HP:0000118", + "UBERON:0001434", + "UBERON:0002204", + "HP:0011849", + "UPHENO:0048707", + "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", + "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", - "GO:0070293", - "UBERON:0004111", - "UPHENO:0068511", - "BFO:0000002", - "CHEBI:60004", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0082542", - "HP:0000119", - "UPHENO:0002964", - "UBERON:0001088", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0000179", - "UPHENO:0046284", - "HP:0012072", - "HP:0032943", - "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0080555", - "UPHENO:0024906", - "HP:0001939", "UPHENO:0001002", "CHEBI:60242", - "BFO:0000003", - "CHEBI:59999", - "PR:000050567", - "UPHENO:0082835", - "CHEBI:64709", - "UPHENO:0079536", - "UBERON:0003914", - "HP:0001942", - "UBERON:0011216", - "UBERON:0001434", - "UBERON:0005090", - "UBERON:0000468", - "UPHENO:0034253", - "HP:0000093", - "GO:0055062", - "UBERON:0002417", - "CHEBI:22314", - "GO:0008152", "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "CHEBI:15693", - "UPHENO:0081544", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "HP:0000083", - "HP:0011804", - "GO:0032501", - "GO:0050801", - "UBERON:0001015", - "CHEBI:37247", - "UPHENO:0051640", - "UPHENO:0081546", - "CHEBI:51143", - "HP:0004360", - "UPHENO:0034391", - "HP:0000118", - "UPHENO:0068094", - "UBERON:0000178", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011849", - "UPHENO:0048707", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UPHENO:0002320", - "UPHENO:0084653", - "UPHENO:0001001", - "UBERON:0000062", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0001474", - "UPHENO:0082875", - "UBERON:0002100", - "CHEBI:28358", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "UBERON:0002204", - "UPHENO:0082539", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082538", - "UBERON:0000489", - "BFO:0000001", - "CHEBI:24833", - "UBERON:0001008", - "UPHENO:0082834", - "BFO:0000040", - "HP:0004349", - "GO:0042592", + "GO:0008152", + "UPHENO:0046284", "HP:0004348", - "HP:0002749", - "CHEBI:23906", - "HP:0003011", - "HP:0012337", - "UBERON:0006314", + "HP:0012072", "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0068089", - "BFO:0000015", + "UBERON:0006314", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0068511", + "BFO:0000002", + "HP:0001942", + "CHEBI:33238", + "UPHENO:0049628", "UBERON:0000174", "HP:0000924", - "HP:0003330", - "UPHENO:0078554", - "UPHENO:0002332", - "CHEBI:33259", - "HP:0011277", - "UPHENO:0046283", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33285", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", "UPHENO:0001003", "HP:0003155", "UPHENO:0080556", @@ -11575,493 +11533,535 @@ def autocomplete_response(): "UBERON:0000467", "UBERON:0004765", "UPHENO:0081550", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "HP:0003110", - "CHEBI:36359", + "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", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", "UBERON:0001062", "CHEBI:72695", "UPHENO:0068064", - "CHEBI:26079", - "CHEBI:33839", - "UPHENO:0082943", - "UPHENO:0075666", - "UPHENO:0002411", - "UBERON:0004120", - "HP:0002148", - "CHEBI:33304", - "HP:0010930", - "UBERON:0013702", - "UPHENO:0050080", - "GO:0098771", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", + "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", - "CHEBI:26082", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", + "UBERON:0004120", + "CHEBI:17234", "GO:0048878", - "UPHENO:0051937", - "UBERON:0002193", - "UPHENO:0051960", - "CHEBI:24870", - "UBERON:0000064", - "CHEBI:33241", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "HP:0001510", - "HP:0003109", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0051739", - "UPHENO:0079824", - "UPHENO:0051900", - "UPHENO:0049628", - "CHEBI:33238", - "UPHENO:0052008", "HP:0040156", "UBERON:0000463", "CHEBI:26020", - "UPHENO:0034217", + "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", - "PR:000003968", - "UBERON:0000479", - "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012211", + "UBERON:0004122", + "HP:0010935", "UBERON:0015212", - "CHEBI:78616", - "HP:0000077", + "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", - "UPHENO:0049709", "HP:0004322", "CHEBI:26216", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0004122", - "HP:0010935", - "UBERON:0005172", - "HP:0003126", - "HP:0002748", - "UPHENO:0002832", - "UPHENO:0002803", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UPHENO:0002816", - "UBERON:0011143", - "UBERON:0004819", + "UPHENO:0049709", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", "HP:0012599", - "CHEBI:33296", + "UPHENO:0051898", "PR:000000001", "UPHENO:0034199", - "UPHENO:0051898", - "UPHENO:0081547", - "CHEBI:25414", - "UPHENO:0068058", - "CHEBI:33674", - "UPHENO:0051930", - "CHEBI:33559", - "CHEBI:25213", - "CHEBI:26217", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0081544", + "CHEBI:15693", "UPHENO:0051645", + "CHEBI:33296", "HP:0010929", - "UPHENO:0051958", + "UPHENO:0034438", + "CHEBI:26217", "UPHENO:0052116", "CHEBI:24835", - "CHEBI:36586", - "CHEBI:33521", - "CHEBI:36914", - "UPHENO:0034438", - "UBERON:0006555", - "GO:0055080", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", "UBERON:0000061", "CHEBI:36916", "UPHENO:0079822", - "HP:0003648", + "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", - "carboxamide", + "peptide", "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", "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", - "peptide", - "growth", - "Growth delay", "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", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "increased level of carboxylic acid in independent continuant", "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", - "increased level of amino acid in urine", + "Organic aciduria", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of organic acid in urine", "hydroxides", "organic molecule", - "carbonyl compound", + "abnormal urine amino acid level", + "increased level of amino acid in urine", "abnormal size of anatomical entity", "abnormal amino acid level", - "Organic aciduria", - "abnormal urine amino acid level", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", + "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 urine metabolite level", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "oxygen molecular entity", - "organooxygen compound", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", "abnormal independent continuant glucose level", - "aldohexose", - "increased level of organic molecular entity in independent continuant", - "glucose", - "aldose", - "hexose", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", - "monosaccharide", - "abnormal renal system process", - "renal absorption", - "abnormal renal absorption", - "abnormal independent continuant amino acid level", - "renal system process", + "increased level of monosaccharide in urine", "organic molecular entity", - "protein-containing molecular entity", - "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", + "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", - "abnormality of muscle organ physiology", - "increased level of protein", - "increased level of glucose in urine", - "body proper", - "decreased muscle organ strength", + "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", - "abdominal segment of trunk", - "musculature of body", - "monoatomic cation", - "Abnormality of the upper urinary tract", - "chemical substance", - "abnormal independent continuant potassium atom level", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "increased level of rac-lactic acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "organic oxo compound", - "excreta", - "abnormal acid bodily fluid level", - "monoatomic monocation", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "increased level of rac-lactic acid in independent continuant", - "skeletal element", - "cavitated compound organ", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "chemical entity", - "increased independent continuant acid level", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased bodily fluid acid level", - "abnormal blood monoatomic ion level", - "decreased level of potassium atom in blood", - "Metabolic acidosis", - "homeostatic process", - "protein", - "phenotype by ontology source", - "decreased level of chemical entity in blood", + "abnormal renal absorption", + "skeletal system", + "abnormal size of multicellular organism", + "bone element", "decreased size of the multicellular organism", "Decreased bone element mass density", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "Phenotypic abnormality", - "Hyperphosphaturia", + "increased level of monosaccharide in independent continuant", "abnormal anatomical entity mass density", "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "Abnormal bone structure", - "anatomical system", - "potassium(1+)", - "All", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "abnormal size of multicellular organism", - "bone element", - "Abnormal renal tubular resorption", - "anatomical entity", - "multicellular anatomical structure", - "heteroorganic entity", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", "abnormal bone element mass density", "decreased role independent continuant level", - "Muscle weakness", + "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", - "abnormal musculature", + "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", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "genitourinary system", - "atom", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "carbon group molecular entity", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "Abnormal circulating enzyme concentration or activity", - "organism subdivision", + "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", - "material entity", - "organic amino compound", - "Acidosis", - "increased level of chemical entity", - "inorganic cation", - "Glycosuria", - "information biomacromolecule", - "abdominal segment element", - "Abnormal bone ossification", - "decreased size of the anatomical entity", - "blood", - "racemate", + "anatomical system", + "Abnormal bone structure", + "potassium(1+)", + "abnormal blood chemical entity level", "phosphate ion homeostasis", - "inorganic ion", - "abnormal genitourinary system", + "racemate", "Aminoaciduria", "organ system subdivision", - "primary amide", - "elemental molecular entity", - "nitrogen molecular entity", - "renal system", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "Abnormality of the genitourinary system", - "Reduced bone mineral density", - "inorganic ion homeostasis", - "Impaired renal tubular reabsorption of phosphate", - "multicellular organism", - "hematopoietic system", - "abnormal monoatomic cation homeostasis", - "alkaline phosphatase, tissue-nonspecific isozyme", - "nephron epithelium", - "polyatomic entity", + "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", - "Abnormal enzyme concentration or activity", - "p-block molecular entity", - "biomacromolecule", - "Abnormality of urine homeostasis", - "upper urinary tract", - "occurrent", - "organ", - "skeletal system", - "Abnormality of the urinary system physiology", - "abnormal blood chemical entity level", - "macromolecule", - "material anatomical entity", - "muscle structure", + "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", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "organism substance", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "main group molecular entity", + "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", - "chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal chemical homeostasis", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "haemolymphatic fluid", - "ion", - "abnormal homeostatic process", - "multicellular organismal process", - "abnormal blood phosphate level", - "Hypophosphatemia", - "monoatomic ion", + "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", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", + "trunk", "molecular entity", "Abnormality of blood and blood-forming tissues", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "trunk", + "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", - "excretory system", - "abnormal independent continuant monoatomic ion level", + "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", - "phosphorus oxoacids and derivatives", + "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", - "abdomen", - "Renal tubular dysfunction", - "abnormal kidney", - "trunk region element", - "Abnormality of the kidney", "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", - "excretory tube", - "kidney", - "oxoacid derivative", - "increased level of phosphate in urine", + "carbohydrates and carbohydrate derivatives", "mesoderm-derived structure", "Abnormal urinary electrolyte concentration", - "musculature", - "decreased role blood level", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "s-block molecular entity", - "s-block element atom", + "aldohexose", + "oxoacid derivative", + "increased level of phosphate in urine", "Abnormal blood cation concentration", "organonitrogen compound", "abnormal independent continuant potassium(1+) level", - "abnormal blood 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", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "elemental potassium", "Hypokalemia", - "Abnormal blood monovalent inorganic cation concentration", "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", - "decreased level of chemical entity", "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", ], }, { @@ -12107,153 +12107,122 @@ def autocomplete_response(): ], "has_phenotype_count": 8, "has_phenotype_closure": [ + "HP:0000002", "GO:0040007", + "UPHENO:0049874", "UPHENO:0081424", "UPHENO:0000543", - "UPHENO:0049874", + "HP:0001510", "HP:0001507", "UPHENO:0012541", - "HP:0000002", - "HP:0001510", - "HP:0001877", - "CL:0000329", - "HP:0012130", "UPHENO:0088162", + "CL:0000329", "CL:0000764", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", + "HP:0001877", + "HP:0012130", + "GO:0005623", + "UPHENO:0049990", + "UPHENO:0050121", "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", + "UPHENO:0050021", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", "GO:0010468", "GO:0010558", "GO:0031327", "GO:0006325", + "UPHENO:0049748", + "GO:0031049", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "GO:0071840", "GO:0050794", "GO:0019222", "GO:0048519", "GO:0006139", "GO:1901360", "GO:0043170", - "GO:0046483", - "UPHENO:0050845", - "HP:0003220", - "GO:0071840", + "GO:0046483", "UPHENO:0078606", "UPHENO:0050113", + "HP:0003220", "GO:0031052", - "CHEBI:24431", - "UPHENO:0051680", - "HP:0006254", - "UBERON:0010323", - "UPHENO:0086045", - "HP:0000234", - "UPHENO:0088338", - "UPHENO:0087089", - "UPHENO:0087123", - "HP:0000252", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0000541", - "HP:0001874", + "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:0088170", + "GO:0044238", + "UPHENO:0001001", + "UBERON:0034923", "GO:0010605", "GO:0009892", "UPHENO:0080079", "NCBITaxon:2759", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000152", - "UBERON:0000475", - "HP:0000240", + "HP:0004322", + "UBERON:0003129", "UBERON:0001434", - "UPHENO:0076805", - "HP:0025461", - "HP:0002060", - "CL:0000988", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "HP:0010987", - "UPHENO:0081435", - "HP:0000924", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0022529", - "UPHENO:0049587", - "UPHENO:0002844", - "UPHENO:0001002", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", + "HP:0033127", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0000234", + "UPHENO:0088338", "UBERON:0011676", "UBERON:0000061", - "UPHENO:0001003", - "GO:0050789", - "UBERON:0013701", - "HP:0001881", - "UPHENO:0085344", - "UPHENO:0063722", - "HP:0001872", - "HP:0032180", "UPHENO:0075159", "HP:0100547", - "GO:0071704", - "CL:0000219", - "UBERON:0011137", - "BFO:0000020", - "HP:0011991", - "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", - "CHEBI:33256", - "UBERON:0000062", "UPHENO:0086019", "UPHENO:0011498", "UPHENO:0077822", "UBERON:0011216", - "UPHENO:0076703", - "UBERON:0002193", - "CL:0001035", - "UPHENO:0085354", - "PR:000018263", - "UPHENO:0076799", - "UBERON:0000481", + "HP:0009121", + "CHEBI:15841", "UPHENO:0020584", "UPHENO:0087518", "OBI:0100026", "CL:0000766", - "UPHENO:0084928", - "UPHENO:0088318", - "HP:0000001", - "HP:0011875", - "HP:0430071", - "UPHENO:0085042", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "HP:0012443", - "HP:0032251", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", + "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:0076703", + "UPHENO:0085354", + "PR:000018263", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UBERON:0004120", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0007811", + "CL:0000255", + "CL:0000738", "UPHENO:0049700", "HP:0001911", - "UPHENO:0085405", - "UPHENO:0002764", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", "GO:0006807", "UPHENO:0006910", "CL:0002242", @@ -12262,229 +12231,261 @@ def autocomplete_response(): "UPHENO:0085076", "BFO:0000003", "UPHENO:0085356", - "PATO:0000001", - "UBERON:0034923", - "HP:0040012", - "UPHENO:0086005", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0085118", - "HP:0002715", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "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", - "UPHENO:0004523", - "UPHENO:0086176", + "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", "GO:0065007", - "HP:0010974", "UPHENO:0085070", - "CHEBI:36963", + "HP:0010974", + "HP:0012443", + "UPHENO:0088318", + "UPHENO:0084928", "HP:0000118", "UBERON:0000033", "UBERON:0000178", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0001875", - "UPHENO:0077426", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "UPHENO:0085984", - "CHEBI:51143", - "CL:0000255", - "UPHENO:0085189", - "UPHENO:0051612", - "CL:0000738", - "CL:0000763", - "CL:0000458", - "UPHENO:0088170", - "GO:0044238", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", - "CHEBI:37622", - "HP:0004322", - "UBERON:0003129", - "UPHENO:0086016", - "CL:0000000", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0004120", - "CL:0000094", + "UPHENO:0063722", + "HP:0001872", + "HP:0032180", + "UPHENO:0086176", + "UPHENO:0004523", + "UPHENO:0002764", + "UPHENO:0085405", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0001003", + "UPHENO:0080200", + "UBERON:0001890", "UPHENO:0046362", + "CL:0000094", "HP:0007364", - "UBERON:0000468", - "HP:0032309", - "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", + "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", "NCBITaxon:33208", "UPHENO:0076692", "UPHENO:0002536", - "UBERON:0010314", - "UBERON:0001062", - "UPHENO:0088321", - "CL:0000775", - "UBERON:0000075", - "UBERON:0010912", - "CL:0000225", - "UBERON:0010000", + "UPHENO:0085984", + "CHEBI:51143", + "HP:0001875", + "UPHENO:0077426", "UBERON:0002390", - "CHEBI:15841", + "UBERON:0010000", + "HP:0000252", + "UPHENO:0081566", + "HP:0006254", "GO:0031326", "UBERON:0002090", "CHEBI:23367", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "HP:0000152", + "UPHENO:0087907", + "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", - "UBERON:0002204", - "GO:0044237", - "HP:0002977", - "NCBITaxon:131567", - "NCBITaxon:33154", - "GO:0006725", - "UBERON:0001893", - "UPHENO:0080200", - "UBERON:0001890", - "HP:0033127", - "UPHENO:0076702", + "HP:0000240", + "UBERON:0000475", "HP:0001903", - "UBERON:0005944", "UPHENO:0088176", + "UBERON:0005944", "UBERON:0034925", "BFO:0000040", "HP:0033405", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "UBERON:0007811", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0086173", + "CL:0000775", + "UBERON:0000075", + "UPHENO:0051680", + "CL:0000225", + "UBERON:0010912", + "UBERON:0000062", "UPHENO:0086049", "HP:0011017", "PR:000000001", - "UPHENO:0084987", - "UPHENO:0048707", + "UPHENO:0086173", + "CL:0000151", "CL:0000232", "HP:0011873", - "CL:0000151", "UPHENO:0085302", - "UBERON:0004288", - "UPHENO:0085144", + "UPHENO:0084987", + "UPHENO:0048707", "HP:0020047", "CL:0002092", - "CHEBI:33579", "UPHENO:0051668", + "CHEBI:33579", "UPHENO:0087355", "UPHENO:0049873", "UBERON:0000153", "HP:0005561", + "UPHENO:0085195", "UPHENO:0087339", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0005528", - "UBERON:0002371", "GO:0006259", "UBERON:0001474", - "UPHENO:0085195", + "UBERON:0002371", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0005528", + "UPHENO:0035025", + "UBERON:0000479", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "UBERON:0002616", + "UPHENO:0048751", "UBERON:0001016", "CHEBI:36357", "UPHENO:0077821", "UBERON:0000463", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:16670", - "HP:0004364", "HP:0010876", "UPHENO:0085330", "GO:0008152", - "UBERON:0002616", - "UPHENO:0048751", "UPHENO:0046284", - "CHEBI:50860", - "CHEBI:16541", - "UPHENO:0068971", - "CHEBI:33695", - "UBERON:0001017", - "UPHENO:0081547", + "CHEBI:33694", "CHEBI:25806", + "CHEBI:50860", + "UPHENO:0051801", "CL:0000081", "CHEBI:35352", "UPHENO:0085068", "CHEBI:32988", "GO:0009987", "CHEBI:33285", + "BFO:0000015", + "CHEBI:33675", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", "UPHENO:0051763", + "UBERON:0001017", + "UPHENO:0081547", "UPHENO:0020888", "UPHENO:0077813", "GO:0008150", - "CHEBI:33675", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", - "BFO:0000015", - "CHEBI:33694", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0051801", + "HP:0004364", ], "has_phenotype_closure_label": [ - "delayed biological_process", - "Short stature", + "Abnormality of body height", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", "decreased height of the anatomical entity", + "Short stature", + "delayed biological_process", + "delayed growth", "Growth delay", "decreased size of the multicellular organism", - "Abnormality of body height", "abnormality of anatomical entity height", - "delayed growth", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", "abnormal erythrocyte morphology", - "abnormal primary metabolic process", + "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", - "regulation of cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", "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", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", "abnormal cellular component organization", "abnormal cellular metabolic process", - "obsolete cell", - "abnormal 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", "regulation of cellular process", @@ -12496,162 +12497,165 @@ def autocomplete_response(): "organelle organization", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "abnormal telencephalon morphology", - "anatomical entity", - "cellular organisms", - "polyatomic entity", - "Abnormality of head or neck", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "regional part of brain", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", + "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", "Abnormal leukocyte morphology", "Morphological central nervous system abnormality", "cell", "neutrophil", - "anterior region of body", - "multi-tissue structure", + "abnormal postcranial axial skeleton morphology", + "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", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "Chromosome breakage", - "abnormal chromatin organization", - "mesoderm-derived structure", - "macromolecule", - "anatomical system", - "main body axis", + "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", "immune system", "myeloid cell", "organonitrogen compound", "root", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", + "mesoderm-derived structure", + "macromolecule", + "organism", + "anatomical system", + "abnormal hematopoietic cell morphology", "Abnormal neutrophil count", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal bone marrow morphology", - "quality", + "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", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", + "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 cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", + "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", - "abnormal skull morphology", - "increased level of protein", - "abnormally decreased number of leukocyte in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "central nervous system", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "material anatomical entity", - "abnormal platelet morphology", - "Abnormal platelet count", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "nucleate cell", - "postcranial axial skeletal system", - "abnormal phenotype by ontology source", - "hematopoietic cell", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "abnormal immune system morphology", - "nitrogen molecular entity", - "chromatin organization", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", + "Decreased head circumference", + "abnormal granulocyte morphology", "abnormal brain morphology", "Abnormal cellular immune system morphology", - "amino acid chain", "tissue", + "amino acid chain", "abnormal axial skeleton plus cranial skeleton morphology", "organic molecular entity", - "primary amide", - "eukaryotic cell", - "skull", - "abnormal head", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "information biomacromolecule", - "multicellular organism", "hematopoietic system", - "abnormally decreased number of neutrophil", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal granulocyte morphology", + "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", - "regulation of macromolecule biosynthetic process", - "Abnormal circulating metabolite concentration", - "abnormally decreased number of granulocyte", + "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", - "Abnormal nervous system morphology", - "abnormally decreased number of cell", - "oxygen molecular entity", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "organic amino compound", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "material entity", - "abnormal alpha-fetoprotein level", + "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", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", + "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", @@ -12660,90 +12664,112 @@ def autocomplete_response(): "abnormal number of anatomical enitites of type cell", "abnormally decreased number of anatomical entity", "Elevated circulating alpha-fetoprotein concentration", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "abnormal size of multicellular organism", - "bone element", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal granulocyte morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "protein-containing molecular entity", - "skeleton", - "bone marrow", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal immune system", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of the head", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "erythrocyte", - "abnormal blood cell", - "organ system subdivision", - "abnormal size of skull", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "organism subdivision", - "decreased size of the anatomical entity", - "blood", - "subdivision of skeleton", + "skull", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "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", - "postcranial axial skeleton", - "abnormal skeletal system", + "Abnormality of head or neck", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "abnormal bone marrow morphology", + "skeleton", + "bone marrow", + "cellular organisms", + "polyatomic entity", "Metazoa", - "axial skeleton plus cranial skeleton", "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", - "abnormal craniocervical region", - "organism", - "Decreased head circumference", + "subdivision of skeleton", + "abnormal telencephalon morphology", + "central nervous system", + "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 platelet", - "cellular metabolic process", - "biogenic amine secreting cell", "abnormal blood chemical entity level", + "abnormal platelet", "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "bone cell", + "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", - "Bone marrow hypocellularity", - "skeletal element", "negative regulation of cellular metabolic process", "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", + "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", + "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", - "peptide", + "abnormal independent continuant alpha-fetoprotein level", + "abnormal independent continuant protein level", + "head", + "amide", + "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", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "abnormal role independent continuant level", - "abnormal independent continuant protein level", - "chalcogen molecular entity", + "p-block molecular entity", + "biomacromolecule", + "heteroorganic entity", + "Abnormal platelet morphology", + "alpha-fetoprotein", "entity", "subdivision of skeletal system", "Abnormal circulating protein concentration", @@ -12752,1170 +12778,1409 @@ def autocomplete_response(): "abnormal protein level", "metabolic process", "bodily fluid", - "organism substance", - "organ", - "occurrent", - "increased level of alpha-fetoprotein", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "organic substance metabolic process", - "Abnormal cellular physiology", - "increased level of chemical entity", - "head", - "amide", - "platelet", - "organooxygen compound", - "abnormal independent continuant alpha-fetoprotein level", - "p-block molecular entity", - "biomacromolecule", - "Abnormal platelet morphology", - "heteroorganic entity", - "alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", "abnormal blood nitrogen molecular entity level", "Abnormal circulating organic amino compound concentration", - "abnormal multicellular organism chemical entity level", - "main group molecular entity", - "negative regulation of cellular biosynthetic process", + "peptide", + "cellular component organization or biogenesis", ], }, { - "id": "MONDO:0014986", + "id": "MONDO:0012565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], + "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 RAD51 gene.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 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", + "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:0001249", + "HP:0000470", + "HP:0002984", "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", + "HP:0002667", "HP:0000252", - "HP:0001510", - "HP:0006349", + "HP:0004808", + "HP:0002885", + "HP:0001631", + "HP:0009778", "HP:0000125", - "HP:0005528", "HP:0000568", - "HP:0007099", - "HP:0001903", + "HP:0001518", + "HP:0001915", "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764", + "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": [ - "Intellectual disability", + "Short neck", + "Hypoplasia of the radius", "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", + "Nephroblastoma", "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", + "Acute myeloid leukemia", + "Medulloblastoma", + "Atrial septal defect", + "Short thumb", "Pelvic kidney", - "Bone marrow hypocellularity", "Microphthalmia", - "Chiari type I malformation", - "Anemia", + "Small for gestational age", + "Aplastic anemia", "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus", + "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": 18, + "has_phenotype_count": 25, "has_phenotype_closure": [ - "HP:0001574", - "HP:0011121", - "UBERON:0002416", - "UPHENO:0002635", - "UBERON:0005174", - "HP:0002144", - "UBERON:0002240", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "GO:0006996", - "HP:0001939", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "UPHENO:0050845", - "HP:0003220", - "GO:0071704", - "GO:0008152", - "UPHENO:0050113", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", - "CL:0000232", - "CL:0000081", - "UPHENO:0020013", - "HP:0011282", - "UPHENO:0081601", - "UPHENO:0071309", - "HP:0007099", - "UBERON:0004732", - "UPHENO:0072814", - "HP:0001317", - "UBERON:0000063", - "HP:0002438", - "UPHENO:0069523", - "HP:0012372", - "UBERON:0004088", - "HP:0000568", - "UPHENO:0012541", - "UPHENO:0075219", - "HP:0008056", - "HP:0000478", - "HP:0000315", - "UPHENO:0068971", - "UPHENO:0021474", - "UBERON:0034923", - "UPHENO:0002948", - "HP:0025354", - "UPHENO:0087123", - "HP:0012145", - "HP:0001871", - "HP:0005528", - "CL:0000000", - "UPHENO:0087339", - "UPHENO:0087355", - "HP:0020047", - "CL:0002092", - "HP:0002715", - "UBERON:0002371", - "UPHENO:0049367", - "UPHENO:0087858", - "HP:0012210", - "UBERON:0005177", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0053580", - "UBERON:0011143", - "GO:0031052", - "UBERON:0000489", - "UBERON:0005173", - "UBERON:0002417", + "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", - "UBERON:0004122", + "HP:0025033", + "HP:0010786", + "UBERON:0008785", + "GO:0010558", + "UBERON:0011138", + "UBERON:0002513", + "GO:0031323", "HP:0010935", - "UBERON:0003103", - "UBERON:0000916", - "HP:0100542", - "UBERON:0009569", - "UPHENO:0075902", - "UPHENO:0081755", + "UBERON:0004122", + "HP:0002898", + "HP:0011793", "UBERON:0001008", - "CL:0000329", - "HP:0000271", - "HP:0000086", - "UBERON:0003672", - "HP:0011044", - "UBERON:0003913", - "CL:0000763", - "HP:0031816", - "HP:0000164", - "UBERON:0001091", - "GO:0034641", - "UPHENO:0011564", - "UBERON:0004921", - "UPHENO:0003020", - "UBERON:0002553", - "UBERON:0007774", - "GO:0065007", - "UPHENO:0081526", - "HP:0000951", - "UPHENO:0002828", - "UBERON:0000167", - "UPHENO:0076800", - "UPHENO:0002910", - "UBERON:0000466", - "UBERON:0013522", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0001507", - "UBERON:0001456", - "UPHENO:0000541", - "HP:0001510", - "UPHENO:0002764", - "NCBITaxon:6072", - "UPHENO:0075195", - "UBERON:0007811", - "UBERON:0001137", - "UBERON:0000033", - "GO:0006725", - "UBERON:0001893", - "UBERON:0000970", - "NCBITaxon:33154", - "UBERON:0001890", - "UPHENO:0080200", - "UBERON:0002616", - "UPHENO:0087472", - "UBERON:0010323", - "UPHENO:0076739", - "HP:0007364", - "HP:0000234", - "HP:0000252", - "NCBITaxon:1", - "HP:0002308", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000119", - "HP:0000152", - "UPHENO:0075220", - "HP:0000240", - "CL:0000988", - "HP:0002060", - "GO:0050789", - 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"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": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "skin of body", + "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", - "Nevus", - "Abnormal spinal cord morphology", - "spinal cord", - "Abnormal conus terminalis morphology", + "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", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "abnormal organelle organization", - "programmed DNA elimination", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal cellular process", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormally formed anatomical entity", - "segmental subdivision of nervous system", - "hindbrain", - "Abnormal metencephalon morphology", - "Cerebellar malformation", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", + "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", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "decreased size of the anatomical entity in the independent continuant", - "orbital region", - "Abnormality of the orbital region", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "Anemia", + "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", - "Abnormality of blood and blood-forming tissues", - "abnormal cell", - "immune system", - "disconnected anatomical group", - "abnormal immune system", - "non-connected functional system", - "Abnormal cellular phenotype", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", + "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", - "abnormal renal system morphology", - "abnormal anatomical entity topology in independent continuant", - "abnormal genitourinary system", - "abnormally localised anatomical entity", + "Neoplasm of the central nervous system", + "Abnormal cardiac ventricle morphology", + "Neoplasm of the nervous system", "Ectopic kidney", - "abnormal renal system", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormally localised anatomical entity in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abdomen", - "Abnormality of the upper urinary tract", - "abnormal bone marrow morphology", + "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 erythrocyte morphology", - "Abnormal number of permanent teeth", + "abnormal bone marrow morphology", + "Abnormal anus morphology", + "abnormally localised anatomical entity in independent continuant", "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormality of the face", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "anatomical cavity", - "abnormally decreased number of calcareous tooth", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "secondary dentition", - "abnormal mouth morphology", - "calcareous tooth", - "dentition", - "subdivision of tube", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "Abnormal number of teeth", - "myeloid cell", - "aplastic secondary dentition", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "subdivision of digestive tract", - "delayed biological_process", - "Growth delay", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", "Abnormal localization of kidney", + "aplasia or hypoplasia of manual digit", + "cardiac chamber", "face", + "abnormal orbital region", + "axial skeletal system", "Growth abnormality", - "delayed growth", - "abnormal size of anatomical entity", - "Decreased head circumference", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal forebrain morphology", - "Eukaryota", - "Eumetazoa", - "abnormal skull morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "abnormal telencephalon morphology", - "dorsal region element", - "Abnormality of skull size", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "body proper", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", - "multi-tissue structure", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "aplasia or hypoplasia of anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "Aplasia/hypoplasia involving bones of the upper limbs", - "bone marrow cell", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "limb endochondral element", - "genitourinary system", - "forelimb skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "Abnormal finger morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal appendicular skeleton morphology", - "multi-limb segment region", - "endochondral element", - "digit", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "head", - "Abnormality of limb bone", - "Neurodevelopmental delay", - "pectoral appendage", - "absent anatomical entity", - "brain ventricle", - "aplastic manual digit 1", - "abnormal growth", - "independent continuant", - "organic cyclic compound metabolic process", - "segment of autopod", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "skeletal system", - "root", - "appendage", - "tube", - "abnormal manual digit 1 morphology", - "organ subunit", - "Cognitive impairment", - "anatomical space", - "paired limb/fin", - "digestive system", - "upper limb segment", - "appendicular skeleton", - "abnormal anatomical entity morphology in the manus", - "manual digitopodium region", - "abnormal forelimb morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "abnormal dentition", - "Abnormal nervous system physiology", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "cerebrospinal fluid", - "Abnormal cell morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormality of the eye", - "abnormal upper urinary tract", - "mouth", - "musculoskeletal system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of mental function", + "Pelvic kidney", + "abnormal pigmentation", + "heart", + "Abnormality of the head", "organic substance metabolic process", + "3-D shape anatomical entity in independent continuant", "Abnormal cellular physiology", - "Pelvic kidney", - "abnormality of nervous system physiology", - "skeleton of manus", - "lateral structure", - "digestive tract", - "process", - "hematopoietic system", - "multicellular organism", - "absent anatomical entity in the multicellular organism", - "agenesis of anatomical entity", - "abnormal face", - "autopodial extension", - "Bone marrow hypocellularity", - "skeletal element", - "zeugopod", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of the hand", - "Abnormal appendicular skeleton morphology", - "Delayed ability to walk", - "material entity", - "abnormal cerebellum morphology", - "skeleton", - "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 limb bone morphology", - "cellular process", - "Abnormal digit morphology", - "decreased size of the anatomical entity", - "cognition", - "ventricular system of brain", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "organism", - "autopod region", - "biological_process", - "Finger aplasia", - "entire sense organ system", - "continuant", - "manual digit 1 plus metapodial segment", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "forelimb zeugopod", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "digit plus metapodial segment", - "skeleton of limb", - "material anatomical entity", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "radius endochondral element", - "regulation of cellular biosynthetic process", + "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", - "Intellectual disability", - "abnormal digestive system morphology", - "bone marrow", - "acropodium region", - "Aplasia/hypoplasia of the extremities", - "forelimb", - "Abnormal skeletal morphology", - "aplasia or hypoplasia of manual digit", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "cavitated compound organ", + "Abnormal leukocyte count", + "abnormal hematopoietic cell morphology", "digit 1", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "postcranial axial skeleton", - "bone of free limb or fin", - "abnormal autopod region morphology", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "autopodial skeleton", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual 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 anus morphology", - "organism subdivision", - "occurrent", - "organ", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "trunk region element", - "pectoral complex", - "eye", - "Opisthokonta", - "paired limb/fin segment", - "appendicular skeletal system", - "skeleton of pectoral complex", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "abnormal manual digit morphology in the independent continuant", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "Microphthalmia", - "abnormal skeletal system", - "macromolecule metabolic process", - "appendage girdle complex", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "mesoderm-derived structure", - "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", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", - "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "Chiari malformation", - "anatomical conduit", - "Abnormality of the head", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "craniocervical region", - "abnormal long bone morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", + "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", - "abnormal anatomical entity morphology", - "arm bone", - "ventricle of nervous system", - "axial skeletal system", - "Radial dysplasia", - "Abnormal long bone morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "obsolete cell", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "dysgenesis of the anatomical entity", - "subdivision of head", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "trunk", - "Abnormality of the vertebral column", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal bone structure", - "abnormal vertebral column", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", + "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", - "Abnormality of the digestive system", - "anus", "protein-DNA complex organization", - "Abnormal anus morphology", + "negative regulation of macromolecule metabolic process", "DNA metabolic process", - "orifice", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "immaterial anatomical entity", - "anus atresia", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Chiari type I malformation", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Metazoa", + "material entity", + "long bone", + "negative regulation of biosynthetic process", + "abnormal metabolic process", + "digestive system", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", ], }, ], diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py index 2d843a908..cf169e075 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": 1723, "id": "UPHENO:0002816"}, - {"label": "nervous_system", "count": 1089, "id": "UPHENO:0004523"}, - {"label": "head_neck", "count": 584, "id": "UPHENO:0002764"}, - {"label": "skeletal_system", "count": 479, "id": "UPHENO:0002964"}, - {"label": "eye", "count": 291, "id": "UPHENO:0003020"}, - {"label": "metabolism_homeostasis", "count": 223, "id": "HP:0001939"}, + {"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": "blood", "count": 180, "id": "UPHENO:0004459"}, - {"label": "connective_tissue", "count": 166, "id": "UPHENO:0002712"}, - {"label": "respiratory", "count": 155, "id": "UPHENO:0004536"}, - {"label": "neoplasm", "count": 153, "id": "HP:0002664"}, - {"label": "digestive_system", "count": 147, "id": "UPHENO:0002833"}, + {"label": "connective_tissue", "count": 172, "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": "growth", "count": 32, "id": "UPHENO:0049874"}, {"label": "ear", "count": 28, "id": "HP:0000598"}, {"label": "endocrine", "count": 25, "id": "UPHENO:0003116"}, - {"label": "immune_system", "count": 22, "id": "UPHENO:0002948"}, - {"label": "prenatal_or_birth", "count": 21, "id": "UPHENO:0075949"}, + {"label": "immune_system", "count": 23, "id": "UPHENO:0002948"}, + {"label": "prenatal_or_birth", "count": 22, "id": "UPHENO:0075949"}, {"label": "breast", "count": 1, "id": "UPHENO:0003013"}, ], } diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py index bdf326310..8e82395ad 100644 --- a/backend/tests/fixtures/histopheno_response.py +++ b/backend/tests/fixtures/histopheno_response.py @@ -5,7 +5,7 @@ def histopheno_response(): return { "responseHeader": { - "QTime": 5, + "QTime": 1, "params": { "facet.query": [ 'object_closure:"UPHENO:0002964"', @@ -40,28 +40,28 @@ def histopheno_response(): "facet": "true", }, }, - "response": {"num_found": 4446, "start": 0, "docs": []}, + "response": {"num_found": 4501, "start": 0, "docs": []}, "facet_counts": { "facet_fields": {}, "facet_queries": { - 'object_closure:"UPHENO:0002964"': 479, - 'object_closure:"UPHENO:0004523"': 1089, - 'object_closure:"UPHENO:0002764"': 584, + 'object_closure:"UPHENO:0002964"': 500, + 'object_closure:"UPHENO:0004523"': 1097, + 'object_closure:"UPHENO:0002764"': 592, 'object_closure:"UPHENO:0002635"': 47, - 'object_closure:"UPHENO:0003020"': 291, + 'object_closure:"UPHENO:0003020"': 292, 'object_closure:"UPHENO:0080362"': 181, - 'object_closure:"HP:0001939"': 223, + 'object_closure:"HP:0001939"': 225, 'object_closure:"UPHENO:0002642"': 44, - 'object_closure:"UPHENO:0002833"': 147, - 'object_closure:"HP:0002664"': 153, - 'object_closure:"UPHENO:0004459"': 180, - 'object_closure:"UPHENO:0002948"': 22, + 'object_closure:"UPHENO:0002833"': 149, + 'object_closure:"HP:0002664"': 155, + 'object_closure:"UPHENO:0004459"': 182, + 'object_closure:"UPHENO:0002948"': 23, 'object_closure:"UPHENO:0003116"': 25, - 'object_closure:"UPHENO:0002816"': 1723, - 'object_closure:"UPHENO:0004536"': 155, + 'object_closure:"UPHENO:0002816"': 1748, + 'object_closure:"UPHENO:0004536"': 158, 'object_closure:"HP:0000598"': 28, - 'object_closure:"UPHENO:0002712"': 166, - 'object_closure:"UPHENO:0075949"': 21, + 'object_closure:"UPHENO:0002712"': 172, + '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 ca08a57e7..ad3dcdcc6 100644 --- a/backend/tests/fixtures/mapping_response.py +++ b/backend/tests/fixtures/mapping_response.py @@ -5,7 +5,7 @@ def mapping_response(): return { "responseHeader": { - "QTime": 1, + "QTime": 0, "params": { "mm": "100%", "q": "*:*", @@ -19,7 +19,7 @@ def mapping_response(): }, }, "response": { - "num_found": 14, + "num_found": 8, "start": 0, "docs": [ { @@ -29,7 +29,7 @@ def mapping_response(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e118a569-aef9-4406-a56e-26c0cce23832", + "id": "3eda4910-e721-4814-b2cd-0739f2eee579", }, { "subject_id": "MONDO:0020121", @@ -38,67 +38,15 @@ def mapping_response(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c019bafb-05f0-4e88-a872-213dc1cbadf8", + "id": "fd45bbd0-9de7-4d93-b491-3b582dfb003c", }, { "subject_id": "MONDO:0020121", "subject_label": "muscular dystrophy", "predicate_id": "skos:exactMatch", - "object_id": "NCIT:C84910", - "object_label": "Muscular Dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "409672f9-0244-46db-b53e-5a941daecf79", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "Orphanet:98473", - "object_label": "Muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e03a2881-54f2-484a-927b-c90557ddf4fa", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "SCTID:73297009", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "25ff5a19-ae6b-4d3d-a57e-f8087f435cb7", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "UMLS:C0026850", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "9edb04c4-fcd6-4b0d-a2ea-b2812c3ae7d3", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "MESH:D009136", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "ca9265de-6da9-46b2-9d90-18b7fc56d874", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "DOID:9884", - "object_label": "muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "5d822e16-51fe-4ab9-a15d-2319b883d96e", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "ICD10CM:G71.0", - "object_label": "Muscular dystrophy", + "object_id": "MEDGEN:44527", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "9ed03b0f-bf8d-41be-b21e-5cd47203dc8a", + "id": "abafcd0b-fb7f-404a-8af3-98fba60c72bd", }, { "subject_id": "MONDO:0020121", @@ -107,7 +55,7 @@ def mapping_response(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c94c80d9-67cb-4c8c-9855-445c493e6b09", + "id": "7bd011ab-4a21-451d-9298-9f37ed755977", }, { "subject_id": "MONDO:0020121", @@ -116,7 +64,7 @@ def mapping_response(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "493dfdf8-e149-4287-9522-1f123af2428b", + "id": "8fde6a2a-f907-4f74-8b7c-6fcd6103ca19", }, { "subject_id": "MONDO:0020121", @@ -124,7 +72,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "SCTID:73297009", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "223f9ee1-c176-4355-bc8f-22cec80116ea", + "id": "167879bf-ba1b-445c-afe7-e2db86cbe795", }, { "subject_id": "MONDO:0020121", @@ -132,7 +80,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "UMLS:C0026850", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "d7d48a1f-1325-45d7-b9af-35f74f4e796f", + "id": "a9560c9f-0075-4117-895c-af85ef93ea46", }, { "subject_id": "MONDO:0020121", @@ -140,7 +88,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "MESH:D009136", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e10a82df-8a83-4ca4-8591-8c00c556c228", + "id": "e9965a94-a5fb-4f32-b803-dc757b045b5d", }, ], }, diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py index 4f0718765..68f0c00d8 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": 14, + "total": 8, "items": [ { "subject_id": "MONDO:0020121", @@ -15,7 +15,7 @@ def mappings(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e118a569-aef9-4406-a56e-26c0cce23832", + "id": "3eda4910-e721-4814-b2cd-0739f2eee579", }, { "subject_id": "MONDO:0020121", @@ -24,70 +24,16 @@ def mappings(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c019bafb-05f0-4e88-a872-213dc1cbadf8", + "id": "fd45bbd0-9de7-4d93-b491-3b582dfb003c", }, { "subject_id": "MONDO:0020121", "subject_label": "muscular dystrophy", "predicate_id": "skos:exactMatch", - "object_id": "NCIT:C84910", - "object_label": "Muscular Dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "409672f9-0244-46db-b53e-5a941daecf79", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "Orphanet:98473", - "object_label": "Muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e03a2881-54f2-484a-927b-c90557ddf4fa", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "SCTID:73297009", - "object_label": None, - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "25ff5a19-ae6b-4d3d-a57e-f8087f435cb7", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "UMLS:C0026850", + "object_id": "MEDGEN:44527", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "9edb04c4-fcd6-4b0d-a2ea-b2812c3ae7d3", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "MESH:D009136", - "object_label": None, - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "ca9265de-6da9-46b2-9d90-18b7fc56d874", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "DOID:9884", - "object_label": "muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "5d822e16-51fe-4ab9-a15d-2319b883d96e", - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "ICD10CM:G71.0", - "object_label": "Muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "9ed03b0f-bf8d-41be-b21e-5cd47203dc8a", + "id": "abafcd0b-fb7f-404a-8af3-98fba60c72bd", }, { "subject_id": "MONDO:0020121", @@ -96,7 +42,7 @@ def mappings(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c94c80d9-67cb-4c8c-9855-445c493e6b09", + "id": "7bd011ab-4a21-451d-9298-9f37ed755977", }, { "subject_id": "MONDO:0020121", @@ -105,7 +51,7 @@ def mappings(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "493dfdf8-e149-4287-9522-1f123af2428b", + "id": "8fde6a2a-f907-4f74-8b7c-6fcd6103ca19", }, { "subject_id": "MONDO:0020121", @@ -114,7 +60,7 @@ def mappings(): "object_id": "SCTID:73297009", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "223f9ee1-c176-4355-bc8f-22cec80116ea", + "id": "167879bf-ba1b-445c-afe7-e2db86cbe795", }, { "subject_id": "MONDO:0020121", @@ -123,7 +69,7 @@ def mappings(): "object_id": "UMLS:C0026850", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "d7d48a1f-1325-45d7-b9af-35f74f4e796f", + "id": "a9560c9f-0075-4117-895c-af85ef93ea46", }, { "subject_id": "MONDO:0020121", @@ -132,7 +78,7 @@ def mappings(): "object_id": "MESH:D009136", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e10a82df-8a83-4ca4-8591-8c00c556c228", + "id": "e9965a94-a5fb-4f32-b803-dc757b045b5d", }, ], } diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py index ce9e0e1db..967409280 100644 --- a/backend/tests/fixtures/node.py +++ b/backend/tests/fixtures/node.py @@ -44,13 +44,7 @@ def node(): "mappings": [ {"id": "DOID:9884", "url": "http://purl.obolibrary.org/obo/DOID_9884"}, {"id": "ICD10CM:G71.0", "url": "https://icd.codes/icd10cm/G71.0"}, - {"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": "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"}, @@ -79,11 +73,13 @@ def node(): "association_counts": [ { "label": "Phenotype to Disease", - "count": 3959, + "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"}, ], "node_hierarchy": { "super_classes": [ @@ -156,9 +152,9 @@ def node(): ], "sub_classes": [ { - "id": "MONDO:0010311", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, cardiac type", "full_name": None, "deprecated": None, "description": None, @@ -178,9 +174,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010675", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": None, "deprecated": None, "description": None, @@ -200,9 +196,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010676", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "muscular dystrophy, Mabry type", "full_name": None, "deprecated": None, "description": None, @@ -222,9 +218,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010677", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": None, "deprecated": None, "description": None, @@ -244,9 +240,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010678", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "Duchenne muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -266,9 +262,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010679", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "Becker muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -288,9 +284,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0016106", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "muscular dystrophy, Barnes type", "full_name": None, "deprecated": None, "description": None, @@ -310,9 +306,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0018949", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "progressive muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -332,9 +328,9 @@ def node(): "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, @@ -354,9 +350,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0023204", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "congenital muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -376,9 +372,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0100228", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": None, "deprecated": None, "description": None, @@ -398,9 +394,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0008028", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "LAMA2-related muscular dystrophy", "full_name": None, "deprecated": None, "description": None, diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py index 7463b141c..f3c87e5a0 100644 --- a/backend/tests/fixtures/object_formatted.py +++ b/backend/tests/fixtures/object_formatted.py @@ -52,32 +52,8 @@ def node_json(): "url": "https://icd.codes/icd10cm/G71.0" }, { - "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": "ICD10CM:G71.0", - "url": "https://icd.codes/icd10cm/G71.0" + "id": "MEDGEN:44527", + "url": "http://identifiers.org/medgen/44527" }, { "id": "NCIT:C84910", @@ -161,7 +137,7 @@ def node_json(): "association_counts": [ { "label": "Phenotype to Disease", - "count": 3959, + "count": 4012, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -173,6 +149,16 @@ def node_json(): "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" } ], "node_hierarchy": { @@ -246,9 +232,9 @@ def node_json(): ], "sub_classes": [ { - "id": "MONDO:0010311", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, @@ -268,9 +254,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010675", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, @@ -290,9 +276,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, @@ -312,9 +298,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, @@ -334,9 +320,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -356,9 +342,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -378,9 +364,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0016106", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "muscular dystrophy, Barnes type", "full_name": null, "deprecated": null, "description": null, @@ -400,9 +386,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "progressive muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -422,9 +408,9 @@ def node_json(): "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, @@ -444,9 +430,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0023204", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "congenital muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -466,9 +452,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0100228", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": null, "deprecated": null, "description": null, @@ -488,9 +474,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0008028", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "LAMA2-related muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -519,7 +505,7 @@ 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': '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': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'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': 3959, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 146, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}] {'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: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: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: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}, {'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}]} +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}]} """ @@ -528,7 +514,7 @@ def node_yaml(): return """ association_counts: - category: biolink:DiseaseToPhenotypicFeatureAssociation - count: 3959 + count: 4012 label: Phenotype to Disease - category: biolink:CausalGeneToDiseaseAssociation count: 126 @@ -536,6 +522,12 @@ def node_yaml(): - category: biolink:CorrelatedGeneToDiseaseAssociation count: 146 label: Correlated Gene +- category: biolink:VariantToDiseaseAssociation + count: 1 + label: Variant to Disease +- category: biolink:GenotypeToDiseaseAssociation + count: 237 + label: Disease Model category: biolink:Disease causal_gene: [] causes_disease: [] @@ -596,20 +588,8 @@ def node_yaml(): url: http://purl.obolibrary.org/obo/DOID_9884 - id: ICD10CM:G71.0 url: https://icd.codes/icd10cm/G71.0 -- 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: 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 @@ -633,11 +613,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010311 + id: MONDO:0010675 in_taxon: null in_taxon_label: null iri: null - name: Becker muscular dystrophy + name: muscular dystrophy, cardiac type namespace: null provided_by: null symbol: null @@ -653,11 +633,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010675 + id: MONDO:0010676 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, cardiac type + name: muscular dystrophy, Hemizygous lethal type namespace: null provided_by: null symbol: null @@ -673,11 +653,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010676 + id: MONDO:0010677 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Hemizygous lethal type + name: muscular dystrophy, Mabry type namespace: null provided_by: null symbol: null @@ -693,11 +673,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010677 + id: MONDO:0010678 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Mabry type + name: muscular dystrophy, progressive Pectorodorsal namespace: null provided_by: null symbol: null @@ -713,11 +693,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010678 + id: MONDO:0010679 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, progressive Pectorodorsal + name: Duchenne muscular dystrophy namespace: null provided_by: null symbol: null @@ -733,11 +713,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010679 + id: MONDO:0010311 in_taxon: null in_taxon_label: null iri: null - name: Duchenne muscular dystrophy + name: Becker muscular dystrophy namespace: null provided_by: null symbol: null @@ -753,11 +733,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0016106 + id: MONDO:0008028 in_taxon: null in_taxon_label: null iri: null - name: progressive muscular dystrophy + name: muscular dystrophy, Barnes type namespace: null provided_by: null symbol: null @@ -773,11 +753,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0018949 + id: MONDO:0016106 in_taxon: null in_taxon_label: null iri: null - name: distal myopathy + name: progressive muscular dystrophy namespace: null provided_by: null symbol: null @@ -793,11 +773,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0019950 + 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 @@ -813,11 +793,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0023204 + id: MONDO:0019950 in_taxon: null in_taxon_label: null iri: null - name: Fukuda-Miyanomae-Nakata syndrome + name: congenital muscular dystrophy namespace: null provided_by: null symbol: null @@ -833,11 +813,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0100228 + id: MONDO:0023204 in_taxon: null in_taxon_label: null iri: null - name: LAMA2-related muscular dystrophy + name: Fukuda-Miyanomae-Nakata syndrome namespace: null provided_by: null symbol: null @@ -853,11 +833,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0008028 + id: MONDO:0100228 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Barnes type + name: LAMA2-related muscular dystrophy namespace: null provided_by: null symbol: null diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py index d385a3d4c..f5634ddfb 100644 --- a/backend/tests/fixtures/search.py +++ b/backend/tests/fixtures/search.py @@ -59,7 +59,6 @@ def search(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", @@ -76,19 +75,21 @@ def search(): "HP:0002650", "HP:0000252", "HP:0001882", + "HP:0001510", "HP:0002863", "HP:0002119", - "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", + "HP:0001562", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -107,7 +108,6 @@ def search(): "HP:0001639", "HP:0001636", "HP:0001631", - "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", @@ -167,7 +167,6 @@ def search(): "Arteriovenous malformation", "Abnormal morphology of ulna", "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", @@ -184,19 +183,21 @@ def search(): "Scoliosis", "Microcephaly", "Leukopenia", + "Growth delay", "Myelodysplasia", "Ventriculomegaly", - "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", + "Oligohydramnios", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", + "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -215,7 +216,6 @@ def search(): "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", - "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", @@ -266,151 +266,151 @@ def search(): ], "has_phenotype_closure": [ "HP:0001010", + "UPHENO:0084987", "UPHENO:0085070", - "CL:0000458", "HP:0001873", - "UPHENO:0085344", + "UPHENO:0086173", + "CL:0000458", "UPHENO:0085189", - "UPHENO:0084987", "UPHENO:0086049", - "HP:0011875", "CL:0000233", "CL:0000457", - "UPHENO:0086173", + "UPHENO:0085344", + "HP:0011875", "HP:0001939", - "HP:0003220", "GO:0008152", + "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0030218", + "GO:0048871", + "UPHENO:0088162", + "UPHENO:0088170", + "CL:0000329", "HP:0010972", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", + "HP:0020047", + "CL:0000764", + "HP:0005522", "HP:0001877", "HP:0025461", "UPHENO:0084928", - "CL:0000329", - "UPHENO:0088162", - "GO:0048871", - "CL:0000764", - "GO:0048872", - "UPHENO:0088170", - "GO:0048869", + "GO:0030218", "GO:0002376", "GO:0009987", "GO:0042592", - "HP:0005522", - "HP:0020047", + "GO:0048869", "CL:0000232", + "GO:0048872", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0002818", "UBERON:0015001", "UPHENO:0080187", - "HP:0002818", - "UPHENO:0075198", "HP:0012745", + "UPHENO:0075198", "HP:0000010", "UPHENO:0002263", "UPHENO:0053644", "HP:0000028", - "UPHENO:0002806", - "UBERON:0000056", - "UBERON:0006555", "UBERON:0036295", + "UBERON:0006555", + "UPHENO:0002806", "HP:0025633", - "UPHENO:0002442", + "UBERON:0000056", "UPHENO:0086132", - "HP:0000083", + "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", + "HP:0000083", "HP:0000135", "HP:5201015", - "UPHENO:0081423", "UPHENO:0034110", "UPHENO:0063513", + "UPHENO:0081423", "HP:0000268", "UPHENO:0001208", - "UBERON:0013766", "UPHENO:0072402", "UBERON:0001084", - "UBERON:1000021", - "UPHENO:0087928", "UPHENO:0087058", - "HP:0000324", + "UBERON:0013766", + "UPHENO:0087928", + "UBERON:1000021", "UPHENO:0084734", "HP:0001999", + "HP:0000324", + "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0041084", - "UPHENO:0041083", "UPHENO:0076704", - "UBERON:0004768", - "UPHENO:0069249", + "UPHENO:0041083", "UPHENO:0081786", - "HP:0009116", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0003278", - "UBERON:0001684", + "UBERON:0004768", + "HP:0004322", + "HP:0030791", + "HP:0000277", + "UPHENO:0083646", + "UPHENO:0081314", "UPHENO:0084457", "HP:0000286", "HP:0009118", "UPHENO:0088116", - "UBERON:0001710", - "UPHENO:0083646", - "UPHENO:0081314", - "HP:0004322", - "HP:0030791", "CL:0000081", "UBERON:0012360", - "HP:0011873", - "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0069249", + "UBERON:0001708", + "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", "UPHENO:0081141", + "HP:0009116", "HP:0000347", - "UPHENO:0080087", + "UBERON:0001710", "HP:0009122", - "HP:0000277", - "GO:0050954", - "HP:0000365", + "HP:0011873", + "UPHENO:0081788", "UPHENO:0005518", + "HP:0000365", + "GO:0050954", "UPHENO:0052970", - "HP:0000486", "HP:0000549", - "GO:0050953", + "HP:0000486", + "UPHENO:0052164", "UPHENO:0050236", + "GO:0050953", "GO:0034101", "UPHENO:0050622", - "UPHENO:0052164", - "UPHENO:0085881", "HP:0000520", + "UPHENO:0085881", "HP:0000568", "UPHENO:0075219", "HP:0100887", - "HP:0007670", + "UPHENO:0066972", + "UPHENO:0080581", "UPHENO:0079837", "HP:0000359", "HP:0000496", + "UPHENO:0079828", + "HP:0007670", + "UPHENO:0002240", "UPHENO:0080602", "UPHENO:0003044", - "UPHENO:0066972", - "UPHENO:0080581", "HP:0011821", "HP:0012547", "HP:0031704", - "UPHENO:0079828", - "UPHENO:0002240", - "UBERON:0003975", + "UBERON:0003100", "HP:0000008", - "UPHENO:0041033", - "HP:0000130", + "UBERON:0003975", "UPHENO:0003053", - "UBERON:0003100", - "HP:0002719", - "UPHENO:0076766", + "UPHENO:0041033", "HP:0010460", "UPHENO:0005170", "UBERON:0000993", "UBERON:0013515", + "HP:0000130", + "HP:0002719", + "UPHENO:0076766", "UBERON:0012358", "GO:0002262", "UBERON:0003620", @@ -419,326 +419,332 @@ def search(): "UBERON:0015025", "HP:0001172", "UBERON:0015024", - "UPHENO:0076724", "UPHENO:0021800", + "UPHENO:0076724", "UBERON:5102389", - "NBO:0000403", - "NBO:0000001", - "NBO:0000389", - "GO:0050905", - "NBO:0000338", - "UPHENO:0041151", - "UPHENO:0078622", + "GO:0007610", "HP:0000708", "HP:0001347", - "UPHENO:0049622", - "GO:0007610", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0083263", + "UPHENO:0049622", "UBERON:0004742", "NBO:0000388", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050613", + "HP:0100022", "UPHENO:0080585", + "UPHENO:0050613", + "NBO:0000403", + "NBO:0000001", "GO:0050896", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0050620", + "GO:0060004", "UPHENO:0050079", - "UPHENO:0050606", - "HP:0100022", + "GO:0050905", + "NBO:0000338", "UPHENO:0080393", + "HP:0001537", "UPHENO:0076794", "HP:0001551", - "HP:0001537", + "UBERON:0000474", + "HP:0010866", + "UPHENO:0086122", "UBERON:0003697", - "HP:0004299", - "UPHENO:0002712", - "HP:0003549", "HP:0004298", "UBERON:0007118", - "UPHENO:0086122", - "UBERON:0000474", - "HP:0010866", - "UBERON:0000173", - "HP:0001562", - "HP:0001560", - "UBERON:0000323", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0086128", - "UPHENO:0015329", + "HP:0003549", + "HP:0004299", + "UPHENO:0002712", + "UPHENO:0019890", "UPHENO:0069254", "UBERON:0002085", "UPHENO:0086857", - "UPHENO:0019890", - "GO:0007600", - "HP:0001671", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0084715", + "HP:0001714", "UPHENO:0019886", - "UBERON:0002094", - "UBERON:0003037", - "HP:0031654", + "HP:0001641", "HP:0011563", - "UPHENO:0042775", - "UBERON:0002099", - "UPHENO:0084482", + "UBERON:0010688", + "UPHENO:0086855", "HP:0000218", "UBERON:0002146", - "HP:0001714", - "UPHENO:0086864", + "GO:0007600", + "HP:0001671", + "UBERON:0003037", + "UBERON:0002094", + "HP:0011025", "UPHENO:0086863", "HP:0001707", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0084715", "UPHENO:0084489", "HP:0001636", - "HP:0001641", - "HP:0011025", - "UBERON:0010688", - "UPHENO:0086855", "HP:0011545", - "UPHENO:0024906", - "UPHENO:0077800", - "HP:0001637", - "UBERON:0018260", - "UBERON:0005983", - "UBERON:0000383", + "HP:0002623", + "UPHENO:0086854", + "UPHENO:0042775", + "UBERON:0002099", + "UPHENO:0086864", + "HP:0031654", + "UPHENO:0084482", "UPHENO:0076781", + "UBERON:0000383", + "UBERON:0005983", "HP:0001638", - "UBERON:0003513", - "HP:0001643", - "UBERON:0011695", + "UPHENO:0024906", + "UBERON:0018260", + "HP:0001637", + "UPHENO:0077800", + "UBERON:0004716", "UBERON:0003834", "UBERON:0005985", "UBERON:0018674", - "UPHENO:0087018", + "HP:0001643", "UPHENO:0087309", - "UBERON:0004716", + "UBERON:0011695", + "UBERON:0003513", "UPHENO:0015290", + "UPHENO:0087018", "UBERON:0006876", "UBERON:0002201", "UBERON:0003498", + "UBERON:0010191", + "UPHENO:0076809", "HP:0002692", "UBERON:0003519", - "UPHENO:0076809", - "UBERON:0010191", "HP:0001679", "UPHENO:0082454", + "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0041369", - "UPHENO:0078347", "UPHENO:0078246", + "UPHENO:0078347", "UBERON:0003457", "UBERON:0011300", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0008200", - "UBERON:0002020", - "UBERON:0000956", - "UBERON:0000203", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0084465", "HP:0002007", "HP:0430000", + "UPHENO:0086595", + "HP:0002538", "UPHENO:0076732", "UBERON:0007914", - "UBERON:0004756", - "UBERON:0001869", + "HP:0002683", + "UPHENO:0002700", "UPHENO:0055092", "UPHENO:0005994", + "UBERON:0008200", + "UBERON:0003528", + "UBERON:0000209", "UBERON:0004339", "UBERON:0010364", "UBERON:0011158", - "HP:0002683", - "UBERON:0003528", - "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0004756", + "UBERON:0001869", "HP:0000290", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0086595", - "HP:0002538", - "UPHENO:0084465", - "UBERON:0005401", "UBERON:0016529", - "UPHENO:0002700", + "UBERON:0005401", + "UBERON:0002410", + "UBERON:0000045", + "UPHENO:0087601", "HP:0001763", "UPHENO:0086978", "UPHENO:0087933", - "HP:0410015", - "UBERON:0002005", - "UBERON:0001808", - "UBERON:0003338", "UPHENO:0085068", "HP:0025028", - "UBERON:0000011", - "UPHENO:0087601", "UBERON:0001809", + "UBERON:0003338", "HP:0410014", - "HP:0012331", - "UPHENO:0087602", + "UPHENO:0002941", + "HP:0410015", + "UPHENO:0087121", + "UBERON:0002005", + "UBERON:0001808", + "HP:0002251", + "UPHENO:0020258", + "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", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UBERON:0002240", + "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", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0051077", + "HP:0000001", + "UPHENO:0087950", "UPHENO:0075148", "UBERON:0004249", "GO:0035295", - "UPHENO:0076744", - "HP:0040069", - "UBERON:0000464", - "HP:0011277", - "UPHENO:0063599", - "UPHENO:0076707", - "UPHENO:0087232", "UPHENO:0084729", "UBERON:0016880", - "UBERON:0005409", - "UPHENO:0086797", - "HP:0002242", + "UBERON:0000047", + "GO:0016331", + "HP:0000202", + "UPHENO:0052778", + "UPHENO:0055730", + "GO:0021915", + "UBERON:5101463", + "GO:0007399", + "GO:0060429", + "UPHENO:0077885", + "BFO:0000003", + "UBERON:0000003", "UPHENO:0076780", "UPHENO:0077854", "HP:0004323", - "UBERON:0034713", - "UPHENO:0005642", - "UPHENO:0019888", - "HP:0100627", - "UPHENO:0085876", - "UBERON:0001785", - "UBERON:0005162", - "UPHENO:0088186", - "HP:0045010", - "UBERON:0000010", + "UPHENO:0086797", + "HP:0002242", + "UBERON:0001043", + "HP:0001713", + "UBERON:0035554", + "UPHENO:0041410", "UBERON:0001530", "UPHENO:0076722", "UBERON:0001424", "HP:0002650", - "HP:0009484", + "UBERON:0000010", "UPHENO:0041146", - "UBERON:0000047", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0035133", - "NCBITaxon:6072", - "UPHENO:0076776", - "UPHENO:0088050", - "UPHENO:0087186", - "UPHENO:0081435", - "HP:0001760", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0045010", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0085876", + "UBERON:0001785", + "HP:0009484", + "UBERON:0034713", + "UPHENO:0005642", + "UPHENO:0019888", + "HP:0100627", "UPHENO:0004508", "BFO:0000020", "UBERON:0012354", - "HP:0012243", - "NCBITaxon:33154", - "UBERON:0011892", - "GO:0005623", - "UBERON:0006311", - "UPHENO:0021670", - "UPHENO:0079826", - "UPHENO:0072814", - "HP:0000553", - "HP:0008062", - "UPHENO:0081313", - "HP:0000483", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:5102544", - "HP:0040070", - "UPHENO:0076718", - "HP:0012443", - "UBERON:0001032", - "UBERON:0002616", - "UBERON:0002101", "UBERON:0003466", "HP:0000047", "UBERON:0000483", "BFO:0000141", - "UPHENO:0041664", - "UPHENO:0086817", - "HP:0100867", + "UBERON:0002514", + "HP:0011844", + "UBERON:0001434", + "HP:0002795", "UBERON:0004572", "UBERON:0004708", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0076718", + "HP:0040071", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0009792", + "UBERON:0004375", + "UPHENO:0021561", + "HP:0040070", + "UBERON:0008001", + "UPHENO:0031199", + "UBERON:0002204", + "UBERON:0001333", + "GO:0003008", + "UBERON:0004582", + "UPHENO:0086956", + "UBERON:0003607", + "UBERON:0015003", + "UBERON:0010712", "UBERON:0012475", + "UBERON:0004535", + "UPHENO:0002880", + "UBERON:0003914", "UPHENO:0020868", "HP:0002973", "HP:0000175", "UPHENO:0003098", "UBERON:0011676", "HP:0000025", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "UBERON:0002101", + "HP:0002817", + "UPHENO:0085118", + "UBERON:0010358", + "UBERON:0001062", + "UBERON:0000981", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + "UBERON:0005423", + "HP:0004207", "UPHENO:0076740", - "UBERON:0008001", - "UPHENO:0031199", - "UBERON:0002204", - "UBERON:0001333", - "UBERON:0003607", - "UPHENO:0002880", - "UBERON:0004535", - "UPHENO:0077877", - "HP:0000340", - "UPHENO:0002751", - "UBERON:0004766", - "HP:0007700", - "UPHENO:0088185", - "UBERON:0010712", - "GO:0003008", - "UBERON:0004582", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0040071", - "UPHENO:0021561", - "UBERON:0015003", - "UBERON:0001434", - "HP:0002795", - "UPHENO:0082356", - "UBERON:0001766", - "HP:0040064", "HP:0045005", "GO:0002009", "UPHENO:0087501", - "UPHENO:0080079", - "HP:0007364", - "UBERON:0002514", - "HP:0011844", - "UPHENO:0086956", - "UBERON:0000981", - "UBERON:0011584", - "UBERON:0004923", - "UBERON:0000026", - "UBERON:0005423", - "HP:0004207", - "UPHENO:0076703", - "UBERON:0005337", - "HP:0000582", "UBERON:0008962", "UPHENO:0011498", "UBERON:0000955", "UBERON:0002428", "HP:0000639", "UBERON:0003128", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "HP:0002817", - "UPHENO:0019766", - "HP:0000953", - "UPHENO:0018390", + "HP:0100867", + "HP:0040064", + "UPHENO:0076703", + "UBERON:0005337", + "HP:0000582", + "HP:0025015", + "UBERON:0000970", + "HP:0006495", "PATO:0000001", "UBERON:0003625", "HP:0002597", "UBERON:0002049", "UBERON:0001016", "UBERON:0002107", - "HP:0025015", - "UBERON:0000970", - "HP:0006495", - "UBERON:0007272", - "UBERON:0004537", - "UBERON:0000064", + "HP:0001710", + "UPHENO:0087363", + "UPHENO:0076776", + "UBERON:0035133", + "NCBITaxon:6072", "HP:0032101", "HP:0001511", "UPHENO:0080362", @@ -746,21 +752,25 @@ def search(): "UPHENO:0076729", "UPHENO:0063527", "UBERON:0004145", + "UBERON:0007272", + "UBERON:0004537", + "UBERON:0000064", + "UPHENO:0019766", + "HP:0000953", + "UPHENO:0018390", "UBERON:0008811", - "HP:0001629", - "UBERON:0004120", - "GO:0007605", - "UBERON:0010363", - "UPHENO:0087548", - "UBERON:0004151", - "UBERON:0035639", - "UPHENO:0003058", "UBERON:0001332", "UBERON:0010719", "UPHENO:0086792", "GO:0007275", "UPHENO:0078288", "UBERON:0000989", + "GO:0007605", + "UBERON:0010363", + "UPHENO:0087548", + "UBERON:0004151", + "UBERON:0035639", + "UPHENO:0003058", "GO:0001841", "UBERON:0002349", "UPHENO:0080662", @@ -768,29 +778,42 @@ def search(): "GO:0048646", "UPHENO:0046753", "UPHENO:0087907", + "HP:0001629", + "UBERON:0004120", "HP:0100543", "UBERON:0001075", "UPHENO:0050108", + "HP:0012759", + "HP:0002118", "HP:0009602", "HP:0012638", "HP:0001780", "HP:0006101", - "HP:0012759", - "HP:0002118", - "UBERON:0011107", - "GO:0050879", - "UPHENO:0076702", - "UBERON:0000475", + "HP:0006824", + "UPHENO:0002708", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0007779", + "UBERON:0012151", + "HP:0100026", + "GO:0040007", + "HP:0002921", + "HP:0002813", + "UPHENO:0003405", + "UBERON:0010418", + "UBERON:0005358", + "UPHENO:0087433", "UPHENO:0088123", "UPHENO:0079833", "UBERON:0004086", "UBERON:0000153", "UPHENO:0019898", "UPHENO:0075933", - "HP:0006824", - "UPHENO:0002708", - "HP:0002011", - "UPHENO:0081700", + "HP:0000238", + "GO:0050879", + "UPHENO:0076702", + "UBERON:0000475", + "UBERON:0011107", "HP:0000036", "UBERON:0005281", "UPHENO:0085874", @@ -803,80 +826,49 @@ def search(): "UPHENO:0005597", "UPHENO:0033635", "UBERON:0004771", - "UBERON:0012151", - "HP:0100026", - "GO:0040007", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "UPHENO:0080202", - "UBERON:0000995", - "UBERON:0010428", - "UBERON:0005358", - "UPHENO:0087433", - "UBERON:0007779", "UPHENO:0004523", "HP:0009115", - "UBERON:0010418", - "HP:0000238", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", "UPHENO:0056212", "UBERON:0002081", "UPHENO:0086610", - "UPHENO:0031193", - "HP:0002863", - "UBERON:0001021", - "UPHENO:0031170", "UBERON:0002471", "UPHENO:0087089", "HP:0012848", "UPHENO:0041098", "GO:0032502", "UPHENO:0002832", - "UBERON:0001460", - "HP:0032251", - "HP:0000152", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "UPHENO:0087472", - "UBERON:0001130", - "HP:0010161", - "GO:0007601", - "UBERON:0000465", - "UPHENO:0002598", - "UBERON:0001968", - "HP:0410043", - "UPHENO:0081709", - "UPHENO:0053298", - "UBERON:0000165", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", - "UBERON:0011137", - "HP:0012639", - "BFO:0000002", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "HP:0011218", "UPHENO:0002219", "HP:0000072", "UPHENO:0006910", - "HP:0000202", - "UPHENO:0052778", - "GO:0016331", - "UBERON:0001870", - "UBERON:0004175", - "UBERON:0011216", - "HP:0011024", - "UPHENO:0056237", - "HP:0012758", - "UBERON:0002193", - "UPHENO:0087846", - "BFO:0000004", + "GO:0035239", + "UBERON:0002091", + "UPHENO:0041591", + "UBERON:0003947", + "CL:0000019", + "UBERON:0002082", + "UPHENO:0084815", + "HP:0003026", + "UPHENO:0087665", "UBERON:0011249", "UPHENO:0005998", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0056333", - "UBERON:0003133", + "UBERON:0000062", + "HP:0005344", + "UBERON:0011582", + "HP:0010301", + "UPHENO:0031129", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "UPHENO:0031193", + "HP:0002863", "HP:0025354", "HP:0001646", "UPHENO:0050625", @@ -884,6 +876,9 @@ def search(): "UBERON:0001137", "HP:0004378", "UPHENO:0001002", + "UBERON:0003135", + "UPHENO:0002332", + "UBERON:0015030", "UBERON:0019264", "HP:0033353", "UPHENO:0020584", @@ -891,60 +886,62 @@ def search(): "UPHENO:0081566", "UPHENO:0014240", "HP:0000356", - "HP:0000153", - "HP:0100491", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0087531", - "UPHENO:0086198", - "HP:0000539", - "UBERON:0003135", - "UBERON:0011138", - "UBERON:0004571", - "UBERON:0000065", - "GO:0022414", + "UBERON:0001130", + "HP:0010161", + "GO:0007601", + "UBERON:0000465", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0021823", + "UPHENO:0085194", + "UBERON:0000991", + "HP:0000707", + "HP:0000795", + "UBERON:0000990", + "BFO:0000001", + "UPHENO:0002635", + "HP:0030311", + "UPHENO:0002371", + "BFO:0000004", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0056333", + "UBERON:0003133", + "GO:0048729", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "HP:0002414", + "UPHENO:0082129", + "HP:0003330", + "UPHENO:0001005", "UBERON:0003509", "UBERON:0015021", "HP:0001667", "HP:0000027", - "UBERON:0001049", - "HP:0034261", - "UPHENO:0020641", - "UPHENO:0076692", - "HP:0011961", + "UPHENO:0019477", + "UBERON:0011138", + "UBERON:0004571", + "UBERON:0000065", + "GO:0022414", + "HP:0045058", "UPHENO:0086005", "UPHENO:0087510", "GO:0009653", "UBERON:0000964", - "HP:0045058", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0001005", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0050881", - "HP:0008669", - "HP:0000505", - "UBERON:0006058", - "UBERON:0015203", - "UPHENO:0087022", - "UBERON:0001768", - "UBERON:0000991", - "NCBITaxon:131567", - "UBERON:0001981", - "UPHENO:0002406", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0005433", - "UBERON:0000990", - "UPHENO:0001003", - "UPHENO:0002332", - "UBERON:0015030", - "UBERON:0008784", - "UPHENO:0049970", - "HP:0001627", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0011137", + "HP:0012639", + "BFO:0000002", + "HP:0000481", + "UPHENO:0015280", + "HP:0001560", + "UPHENO:0075902", + "UBERON:0001007", + "UPHENO:0072194", + "UPHENO:0079876", "HP:0010468", "UPHENO:0076727", "UBERON:0003608", @@ -953,152 +950,82 @@ def search(): "UPHENO:0076739", "UPHENO:0005986", "CL:0002242", + "HP:0006501", + "HP:0001642", + "UPHENO:0005116", + "UBERON:0005181", "UBERON:0005291", "UPHENO:0081755", "UBERON:0002103", "UBERON:0003462", "NBO:0000411", "HP:0000163", - "HP:0008055", - "UPHENO:0041462", "UPHENO:0086201", - "HP:0000759", - "UPHENO:0076735", - "UPHENO:0078081", - "UBERON:0002495", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015063", "UPHENO:0080352", "HP:0025031", - "GO:0009888", - "HP:0000925", - "UPHENO:0075997", - "GO:0048598", - "UPHENO:0003055", - "GO:0008150", - "HP:0007565", - "UPHENO:0086700", - "UBERON:0003126", - "UBERON:0001009", - "UPHENO:0002830", - "CL:0000015", - "UBERON:0015228", - "UBERON:0002513", - "HP:0004362", - "GO:0032504", - "HP:0000078", - "UBERON:0000062", - "HP:0003468", - "UPHENO:0020950", - "UPHENO:0081424", - "UBERON:0000075", - "UPHENO:0087894", - "UPHENO:0002901", - "UPHENO:0021823", - "UPHENO:0085194", - "UPHENO:0081598", - "UBERON:0011595", - "UPHENO:0081608", - "UBERON:0001423", - "UBERON:0004176", - "UPHENO:0020748", - "UPHENO:0081584", - "UPHENO:0002595", - "HP:0012041", - "UBERON:0010313", - "HP:0000315", - "UBERON:0001004", - "HP:0000481", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001249", - "UBERON:0000479", - "UBERON:0001007", - "UPHENO:0072194", - "UPHENO:0079876", - "NCBITaxon:33208", - "UBERON:0011374", - "GO:0001843", - "UPHENO:0079839", - "UPHENO:0021672", - "HP:0012130", - "UBERON:0002405", - "NCBITaxon:2759", - "UPHENO:0076800", - "UBERON:0002386", - "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0003947", - "CL:0000019", - "UPHENO:0041591", - "UBERON:0002082", - "UPHENO:0084815", - "HP:0003026", - "UPHENO:0076957", - "UPHENO:0005651", - "UBERON:0005178", - "UBERON:0001436", - "UPHENO:0049701", + "UPHENO:0086621", + "HP:0010461", "UBERON:0000020", - "UPHENO:0080165", - "UPHENO:0087547", - "UBERON:0001638", - "CL:0000413", - "UPHENO:0041395", - "UBERON:0000922", - "UBERON:0007811", - "UPHENO:0084816", - "HP:0012252", - "UBERON:0000057", - "UPHENO:0088338", - "UPHENO:0077872", - "UBERON:0010409", - "UBERON:0002104", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "HP:0006501", - "HP:0001642", - "UBERON:0005181", - "UPHENO:0005116", - "UPHENO:0087665", - "HP:0000707", - "HP:0000795", - "HP:0011389", - "GO:0007276", - "UBERON:0004710", - "HP:0005773", - "UPHENO:0026028", - "UBERON:0001062", - "UPHENO:0085118", - "UBERON:0010358", - "UPHENO:0015303", - "UBERON:0010314", - "HP:0100691", - "GO:0003006", - "GO:0048609", - "UPHENO:0078267", + "HP:0000078", + "HP:0032251", + "UBERON:0001460", + "GO:0050881", + "HP:0008669", + "HP:0000505", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "UBERON:0001021", + "UPHENO:0031170", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0011159", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0086091", + "UPHENO:0002406", + "UPHENO:0082875", + "HP:0011355", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0012874", + "UBERON:0004529", + "UPHENO:0002598", + "UPHENO:0078729", + "UBERON:0002495", + "UBERON:0000463", + "UBERON:0015063", "UBERON:0010707", "UPHENO:0049985", + "UPHENO:0002595", + "UPHENO:0002992", + "HP:0007874", + "HP:0012041", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0087531", + "UPHENO:0086198", + "HP:0000539", + "HP:0000153", + "HP:0100491", + "UBERON:0001049", + "HP:0034261", + "UPHENO:0020641", + "UPHENO:0076692", + "HP:0011961", + "UBERON:0034923", "UBERON:0004054", "HP:0100736", "UPHENO:0087577", "UPHENO:0084834", - "UBERON:0034923", - "UPHENO:0020967", - "UBERON:0000473", - "UBERON:0000477", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0050101", - "UPHENO:0008523", - "UBERON:0010703", - "HP:0002823", + "UBERON:0001004", "UBERON:0002080", "UPHENO:0078452", "UBERON:0011779", @@ -1108,71 +1035,146 @@ def search(): "HP:0003022", "UPHENO:0026506", "GO:0032501", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0002075", - "UBERON:0012150", - "UBERON:0001486", - "CL:0000300", - "UPHENO:0020998", - "UBERON:0010538", - "UBERON:0005445", - "UPHENO:0046540", - "HP:0001626", - "GO:0000003", - "UPHENO:0087006", - "HP:0002119", - "GO:0048232", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005156", + "HP:0410043", + "UBERON:0000479", + "HP:0001249", + "UBERON:0001968", "HP:0001751", "HP:0000035", "UBERON:0001709", "UBERON:0016525", "UPHENO:0087973", "UPHENO:0075878", - "UPHENO:0077885", - "BFO:0000003", - "GO:0060429", - "UBERON:0000003", + "UPHENO:0033572", + "HP:0002246", "PR:000050567", - "HP:0000593", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0011159", - "UPHENO:0079872", - "UBERON:0002544", - "UPHENO:0076695", - "UBERON:0000060", - "UPHENO:0087585", - "UBERON:0016548", - "UPHENO:0088171", - "GO:0019953", - "UPHENO:0086091", - "HP:0001872", - "UBERON:0002100", - "UPHENO:0076675", - "HP:0012874", - "UBERON:0004529", - "HP:0005344", - "UBERON:0011582", - "UPHENO:0082467", - "UPHENO:0052178", - "HP:0010301", - "UPHENO:0031129", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0002635", - "HP:0030311", - "UPHENO:0075208", - "HP:0000811", - "HP:0004328", + "UPHENO:0075684", + "HP:0030680", + "UPHENO:0002448", + "UPHENO:0056237", + "HP:0012758", + "UBERON:0002193", + "UPHENO:0087846", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0001870", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "HP:0000315", + "UBERON:0010313", + "UPHENO:0001003", + "HP:0000759", + "UPHENO:0076735", + "UPHENO:0078081", "UBERON:0016879", - "BFO:0000040", + "UPHENO:0005433", + "UBERON:0005156", + "GO:0048232", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0010763", + "UBERON:0001009", + "UPHENO:0002830", + "CL:0000015", + "UBERON:0015228", + "UPHENO:0081598", + "UPHENO:0081608", + "UBERON:0011595", + "HP:0004362", + "UBERON:0002513", + "GO:0032504", + "UBERON:0001638", + "CL:0000413", + "UPHENO:0080165", + "UPHENO:0087547", "NBO:0000416", "HP:0001871", + "BFO:0000040", + "HP:0000152", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0041037", + "UPHENO:0078267", + "GO:0003006", + "GO:0048609", + "UPHENO:0081424", + "UBERON:0000075", + "UPHENO:0087894", + "UPHENO:0002901", + "HP:0011389", + "GO:0007276", + "UBERON:0004710", + "HP:0005773", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0088050", + "UBERON:0008784", + "UPHENO:0049970", + "HP:0001627", + "UBERON:0003126", + "UPHENO:0081584", + "UPHENO:0020748", + "UPHENO:0086700", + "UBERON:0002050", + "UBERON:0010703", + "HP:0002823", + "HP:0003468", + "UPHENO:0020950", + "UPHENO:0020967", + "UBERON:0000473", + "HP:0000234", + "UPHENO:0085873", + "UBERON:0002075", + "UBERON:0002544", + "UPHENO:0087585", + "UPHENO:0076695", + "UBERON:0000060", + "UBERON:0012150", + "UBERON:0001486", + "CL:0000300", + "UPHENO:0020998", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "HP:0001626", + "GO:0000003", + "UPHENO:0087006", + "HP:0002119", + "UBERON:0001436", + "UPHENO:0049701", + "UPHENO:0005651", + "UBERON:0005178", + "UPHENO:0026028", + "UPHENO:0015303", + "UBERON:0010314", + "HP:0100691", + "UPHENO:0075208", + "HP:0000811", + "HP:0004328", + "UPHENO:0041395", + "UBERON:0000922", + "UBERON:0007811", + "UPHENO:0084816", + "HP:0012252", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0000057", + "UPHENO:0088338", + "UBERON:0011215", + "GO:0048856", + "HP:0006503", + "UPHENO:0076800", + "UBERON:0002386", + "HP:0002778", + "HP:0000812", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0084763", + "UBERON:0001691", + "UPHENO:0075220", "UBERON:0002105", "UPHENO:0081792", "UBERON:0022303", @@ -1183,8 +1185,14 @@ def search(): "UBERON:0011250", "UBERON:0001690", "UBERON:0015410", - "UPHENO:0002678", - "UPHENO:0051003", + "HP:0011842", + "UBERON:0001440", + "UPHENO:0075696", + "UBERON:0006598", + "UBERON:0004908", + "HP:0012243", + "HP:0005607", + "UBERON:0007798", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", @@ -1193,10 +1201,25 @@ def search(): "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", @@ -1205,237 +1228,155 @@ def search(): "UPHENO:0002378", "UPHENO:0076765", "HP:0002086", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", "HP:0000478", - "UBERON:0000481", - "HP:0000957", + "UPHENO:0041079", + "UBERON:0019231", + "HP:0031703", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", "HP:0011314", "UBERON:0001819", "UBERON:0003657", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "HP:0010461", - "UPHENO:0086621", - "RO:0002577", - "HP:0000951", "HP:0000364", "GO:0009790", "UPHENO:0081574", "UPHENO:0086159", "UPHENO:0076730", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0005607", - "UBERON:0007798", - "HP:0002664", + "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", - "HP:0011793", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "UPHENO:0071334", - "HP:0000032", "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", - "UBERON:0015212", - "UPHENO:0087478", - "UBERON:0001558", - "GO:0048731", - "UBERON:0001043", - "HP:0001713", - "UBERON:0035554", - "UPHENO:0041410", - "UPHENO:0071309", - "UPHENO:0002725", - "HP:0012718", - "CL:0000039", - "UBERON:0013765", - "OBI:0100026", - "UPHENO:0086633", - "UBERON:0004119", - "UPHENO:0080209", + "GO:0072175", + "HP:0002060", + "GO:0007283", + "UPHENO:0082449", "UPHENO:0087802", - "UPHENO:0075684", - "HP:0030680", - "UPHENO:0002448", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", - "UPHENO:0021045", - "HP:0001000", - "UBERON:0012430", - "UPHENO:0035025", - "UPHENO:0080185", - "HP:0012373", - "UBERON:0002091", - "GO:0035239", - "HP:0000813", - "HP:0100542", - "UBERON:0000045", - "UPHENO:0002910", - "UBERON:0001272", - "GO:0007283", - "UPHENO:0082449", - "HP:0031703", - "UPHENO:0041079", - "UBERON:0019231", "UBERON:0010708", "GO:0050890", - "UBERON:0000019", "UBERON:0000073", + "UBERON:0000019", + "UPHENO:0080202", + "UBERON:0000995", + "UBERON:0010428", "GO:0050882", "UBERON:0013522", - "HP:0008438", - "UPHENO:0076798", - "UBERON:0010222", - "UPHENO:0076805", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0035148", - "HP:0000453", - "GO:0048729", - "UBERON:0016491", - "UBERON:0000033", - "UBERON:0006052", - "UPHENO:0033572", - "HP:0002246", - "HP:0001710", - "UPHENO:0087363", - "UBERON:0004375", - "GO:0009792", - "UBERON:5101463", - "GO:0007399", - "GO:0021915", - "HP:0002060", - "GO:0072175", - "UPHENO:0055730", - "UBERON:0005897", - "UBERON:0005174", - "UBERON:0010741", - "UPHENO:0041037", - "HP:0009121", - "HP:0005918", - "UBERON:0034944", - "UBERON:0011164", - "UPHENO:0075655", - "HP:0007874", - "UPHENO:0002992", - "UBERON:0002050", - "UBERON:0003914", - "UBERON:0003920", - "UBERON:0001801", - "UBERON:0010371", - "UPHENO:0015282", - "HP:0000366", - "UPHENO:0087307", - "UPHENO:0050034", - "HP:0003312", - "HP:0000119", - "GO:0043009", - "UBERON:0000061", - "UPHENO:0076803", - "GO:0001838", - "UBERON:0006717", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0002941", - "UPHENO:0019477", - "UPHENO:0076783", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", + "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", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UPHENO:0020809", - "UBERON:0002108", "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:0077889", - "UBERON:0000161", - "UPHENO:0086824", "UPHENO:0074228", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", "UPHENO:0021304", "HP:0010293", - "UBERON:0013702", - "HP:0002023", - "UBERON:0002355", - "UPHENO:0087509", - "HP:0006265", + "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", - "UPHENO:0033559", - "UPHENO:0082794", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "HP:0000174", - "UBERON:0003978", - "HP:0001159", - "UBERON:0005725", - "UPHENO:0086858", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005623", - "UPHENO:0087612", - "UBERON:0004288", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UBERON:0002389", - "HP:0001654", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0010795", "UPHENO:0002839", "UPHENO:0086614", "UBERON:0000915", @@ -1444,163 +1385,194 @@ def search(): "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", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", "UPHENO:0015327", "UBERON:0019221", + "UBERON:0002389", + "HP:0001654", + "HP:0030669", + "UBERON:0000117", + "UBERON:0034921", + "HP:0032039", + "UBERON:0010912", + "UPHENO:0086144", "HP:0000492", "UPHENO:0080382", "HP:0200006", "UBERON:0001474", "UPHENO:0063722", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0021791", + "UBERON:0000179", "UPHENO:0003085", "GO:0030154", "UBERON:0004573", "UBERON:0015052", - "HP:0032039", - "HP:0030669", - "UBERON:0010912", - "UPHENO:0086144", - "UPHENO:0021791", - "UBERON:0000179", "UBERON:0000014", "UPHENO:0086680", "UPHENO:0076761", + "UBERON:0000965", + "UBERON:0005389", + "UBERON:0000477", + "HP:0000517", + "UPHENO:0086633", + "UBERON:0004119", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0088132", "HP:0000518", "HP:0001924", "UPHENO:0018424", - "UBERON:0000965", "UPHENO:0087578", - "UBERON:0005389", "HP:0000508", "GO:0048468", "UPHENO:0087214", "GO:0060562", "UPHENO:0041644", "UPHENO:0041667", - "UPHENO:0086699", + "UPHENO:0021517", "UBERON:0010913", + "UPHENO:0086699", "UBERON:0005726", "UPHENO:0086628", - "UPHENO:0021517", "UPHENO:0063621", "HP:0010978", "UPHENO:0086100", - "UPHENO:0003048", - "HP:0005105", - "HP:0011994", - "UPHENO:0002907", - "UPHENO:0084447", - "HP:0100790", - "HP:0010935", - "UBERON:0002268", + "UBERON:0010323", + "UPHENO:0087814", + "UBERON:0007832", "UPHENO:0085330", "UBERON:0003129", "UPHENO:0002642", "UBERON:0010740", "UBERON:0000004", - "UPHENO:0063595", - "HP:0000929", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", + "UPHENO:0003048", + "UBERON:0002268", "HP:0000415", "HP:0100547", "HP:0000144", - "UPHENO:0075852", - "HP:0000080", - "UBERON:0001008", - "UBERON:0012241", - "UPHENO:0002790", + "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:0010936", - "UBERON:8450002", - "HP:0000079", + "HP:0200005", + "UPHENO:0065599", "HP:0010438", "HP:0000118", "UPHENO:0005995", "UPHENO:0020068", "UBERON:0007830", - "HP:0200005", - "UPHENO:0065599", - "HP:0000252", - "HP:0003272", + "HP:0007364", + "UPHENO:0080079", + "HP:0012130", + "UBERON:0002405", + "NCBITaxon:2759", + "UPHENO:0079839", + "UPHENO:0021672", + "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:0080200", "HP:0100886", "UPHENO:0020888", - "UBERON:0001893", - "UPHENO:0087518", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0004348", - "HP:0002715", - "UPHENO:0086045", - "UBERON:0001449", - "UBERON:0000178", - "HP:0011893", - "HP:0010987", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", + "HP:0000252", + "HP:0003272", "UPHENO:0088321", "UPHENO:0004459", "UPHENO:0003020", "UPHENO:0004536", "UPHENO:0003116", - "UBERON:0002390", + "HP:0004377", + "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", - "CL:0000255", - "CL:0000219", - "UPHENO:0002948", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", + "HP:0010987", + "HP:0011893", + "UBERON:0002390", "UPHENO:0085410", - "UPHENO:0001440", "UPHENO:0000541", "HP:0002031", "HP:0001373", "UBERON:0012476", "UPHENO:0000543", + "UPHENO:0001440", + "HP:0002624", + "UBERON:0002530", "UBERON:0002423", "UBERON:0002365", "UBERON:0002330", - "HP:0002012", - "UBERON:0015204", - "UPHENO:0080126", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000818", - "UPHENO:0084767", - "UBERON:0000916", "UBERON:0002417", "NBO:0000417", "HP:0000924", @@ -1609,26 +1581,38 @@ def search(): "UBERON:0002368", "CL:0000408", "UBERON:0005173", - "HP:0002624", - "UBERON:0002530", + "UBERON:0000916", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "HP:0002012", + "UBERON:0004092", "UPHENO:0002844", "UPHENO:0075995", - "UBERON:0004092", "UBERON:0000466", - "UBERON:0008785", - "UBERON:0000015", "UPHENO:0052675", "HP:0000316", + "UBERON:0008785", + "UBERON:0000015", "UPHENO:0042834", "UPHENO:0072195", "HP:0002814", "UBERON:0006800", "UPHENO:0049367", + "HP:0001197", + "UPHENO:0075949", + "UBERON:0000173", + "HP:0001562", + "NBO:0000313", + "HP:0002827", "UPHENO:0052231", "UPHENO:0081594", - "NCBITaxon:1", "UPHENO:0021474", "UPHENO:0087597", + "NCBITaxon:1", "UBERON:0002114", "UPHENO:0076748", "UBERON:0012152", @@ -1636,53 +1620,53 @@ def search(): "UBERON:0010696", "NBO:0000444", "UPHENO:0081344", - "UBERON:0000063", - "HP:0008056", - "UBERON:0007273", "HP:0002270", "UBERON:0015022", "UPHENO:0086866", "UBERON:0001445", - "HP:0011297", - "UBERON:0004248", "GO:0043473", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", "UBERON:0012142", "UBERON:0010758", "UBERON:0001890", "UPHENO:0081091", + "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", - "UPHENO:0087369", - "UPHENO:0082444", - "HP:0001639", - "UPHENO:0002896", - "UPHENO:0076806", + "UBERON:0010709", "HP:0040072", "UBERON:0004053", "UBERON:0001441", "UBERON:0015023", - "UPHENO:0081575", "UBERON:0001711", "UBERON:0003221", + "UPHENO:0087369", + "UPHENO:0081575", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", + "UPHENO:0033603", + "UBERON:0001466", "HP:0100760", - "UBERON:0010709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UBERON:0001769", - "UBERON:5002544", - "UBERON:0000154", - "HP:0031653", - "UBERON:0004122", - "HP:0009826", - "UPHENO:0033616", - "HP:0001384", "CL:0000763", "UPHENO:0049586", "UBERON:0010742", @@ -1690,228 +1674,244 @@ def search(): "HP:0040068", "UBERON:0002470", "UBERON:0012139", - "HP:0001824", - "UBERON:0004709", - "UPHENO:0033603", - "UBERON:0001466", - "UBERON:0000978", - "UPHENO:0087123", - "HP:0000077", - "UBERON:0002199", "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:0034768", - "UPHENO:0081570", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", - "UBERON:0002553", - "HP:0031816", - "UPHENO:0075843", - "HP:0000172", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0002553", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0004089", "UPHENO:0088088", + "UBERON:0034768", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UPHENO:0081570", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0080221", - "HP:0001034", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "HP:0000309", - "UPHENO:0082682", + "UPHENO:0021670", + "HP:0000553", + "UPHENO:0041664", + "UPHENO:0086817", + "UBERON:0000063", + "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", + "HP:0000593", "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:0008053", - "UPHENO:0022529", - "UPHENO:0054957", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", + "HP:0000309", + "UPHENO:0082682", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", "UPHENO:0080601", "UPHENO:0086172", "UPHENO:0074589", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0049940", - "UPHENO:0084761", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", "UBERON:0002384", "UBERON:0012141", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0084766", - "UPHENO:0080201", "UBERON:0003101", + "UPHENO:0080201", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0085371", + "UPHENO:0076723", "HP:0045060", + "CL:0000151", + "HP:0001510", + "HP:0001167", "HP:0008373", "HP:0005927", - "UPHENO:0085371", - "UPHENO:0076723", + "UPHENO:0084766", "UPHENO:0084653", "UBERON:0005451", "HP:0005922", "UPHENO:0082671", "UPHENO:0078179", + "UPHENO:0082835", "HP:0011849", "HP:0010469", "UBERON:0008202", "UPHENO:0082834", "HP:0004209", "UPHENO:0087203", - "UPHENO:0082835", "UBERON:0002412", "GO:0001503", - "HP:0011446", - "HP:0030084", + "HP:0009179", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", "HP:0000377", "HP:0004097", + "HP:0011446", + "HP:0030084", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UPHENO:0080369", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0076736", - "HP:0009179", "UBERON:5003625", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0081790", - "HP:0200007", - "HP:0009821", + "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:0001001", - "UPHENO:0087892", - "UPHENO:0060026", - "HP:0001367", + "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", - "NBO:0000313", - "HP:0002827", - "UBERON:0000982", - "UBERON:0005913", - "UBERON:0001271", + "UBERON:0003463", + "UPHENO:0060026", + "HP:0001367", "UBERON:0003828", "UPHENO:0075945", - "UBERON:0003463", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0001464", + "UPHENO:0001001", + "UPHENO:0087892", "UBERON:0008114", "UBERON:0007828", "UBERON:0003840", - "UPHENO:0087974", - "UBERON:0004770", - "HP:0002644", - "UBERON:5002389", - "UPHENO:0087558", "HP:0000271", "UBERON:0005893", + "UBERON:5002389", + "UPHENO:0087558", "UBERON:0001712", "UBERON:0001950", "UBERON:0003826", - "UBERON:0016526", - "UPHENO:0010795", - "UBERON:0001805", - "HP:0002251", - "UBERON:0004121", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0020258", - "UPHENO:0087121", - "UBERON:0002410", + "HP:0012331", ], "has_phenotype_closure_label": [ - "decreased biological_process in multicellular organism", "decreased qualitatively pigmentation in independent continuant", - "Hypopigmentation of the skin", - "decreased qualitatively biological_process 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 platelet", "abnormally decreased number of myeloid cell", - "abnormal blood cell", + "abnormally decreased number of platelet", "abnormal platelet", "anucleate cell", "secretory cell", + "abnormal blood cell", "obsolete cell", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "decreased size of the multicellular organism", "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", - "cellular developmental process", - "abnormal erythroid lineage cell morphology", "erythroid lineage cell", - "Sideroblastic anemia", - "Abnormal myeloid cell morphology", + "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", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", "homeostasis of number of cells", - "oxygen accumulating cell", - "Anemia of inadequate production", - "radius bone", + "cellular developmental process", "Abnormal morphology of the radius", - "aplasia or hypoplasia of radius bone", "abnormal radius bone morphology", + "aplasia or hypoplasia of radius bone", + "radius bone", "Neurodevelopmental delay", - "abnormal size of palpebral fissure", "decreased length of palpebral fissure", "Abnormal size of the palpebral fissures", - "Abnormality of immune system physiology", + "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", @@ -1925,178 +1925,167 @@ def search(): "abnormally decreased functionality of the gonad", "Cleft palate", "Craniofacial cleft", - "increased height of the anatomical entity", "increased height of anatomical entity in independent continuant", + "increased height of the anatomical entity", "High palate", - "Increased head circumference", "increased size of the head", + "Increased head circumference", + "skin of head", "increased length of the epicanthal fold", - "upper eyelid", - "zone of skin", "Epicanthus", - "skin of head", "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", - "abnormal facial skeleton morphology", - "Hypoplastic facial bones", + "mandible hypoplasia", + "bone element hypoplasia in face", + "decreased size of the mandible", + "bone of lower jaw", + "lower jaw region", "facial skeleton", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "bone of lower jaw", - "mandible hypoplasia", - "abnormal mandible morphology", "Abnormal mandible morphology", - "lower jaw region", "facial bone hypoplasia", - "decreased size of the mandible", - "bone element hypoplasia in face", + "anatomical entity hypoplasia in face", + "abnormal mandible morphology", + "Hypoplastic facial bones", + "abnormal facial skeleton morphology", "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", "abnormal sensory perception of sound", - "Hearing abnormality", "sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", "Abnormal conjugate eye movement", "Strabismus", - "sensory perception of light stimulus", - "abnormal sensory perception of light stimulus", "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", - "Abnormality of globe size", - "Abnormality of eye movement", "cranial nerve related reflex", - "Abnormal vestibulo-ocular reflex", "Abnormal vestibular function", + "Abnormality of eye movement", "abnormality of ear physiology", + "eye movement", "abnormal eye movement", "abnormal physiologic nystagmus", - "eye movement", "abnormal vestibulo-ocular reflex", - "shape uterus", - "abnormal uterus", - "female organism", + "Abnormal vestibulo-ocular reflex", "internal female genitalia", "abnormal internal female genitalia morphology", - "Abnormality of the female genitalia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "female organism", + "abnormal uterus", "abnormal female reproductive system", - "oviduct", "bicornuate anatomical entity", - "uterus", + "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", + "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", - "manual digit 1 digitopodial skeleton", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "manual digit 1", "abnormal female reproductive system morphology", "digit 1 digitopodial skeleton", "skeleton of manual acropodium", "skeleton of manual digitopodium", - "Bicornuate uterus", - "abnormal behavior", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", "body part movement", "neuromuscular process", "voluntary musculoskeletal movement", "kinesthetic behavior", - "increased qualitatively response to stimulus", - "abnormal voluntary musculoskeletal movement", - "Hyperreflexia", - "reflex", + "multicellular organismal movement", "Abnormality of movement", + "abnormal voluntary musculoskeletal movement", "Recurrent urinary tract infections", "involuntary movement behavior", - "multicellular organismal movement", + "Bicornuate uterus", + "abnormal behavior", + "Hyperreflexia", + "increased qualitatively response to stimulus", + "reflex", "abnormal response to external stimulus", "decreased embryo development", "abnormal embryo development", - "Abnormal umbilicus morphology", - "Hernia", - "Hernia of the abdominal wall", + "herniated abdominal wall", "Abnormality of connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", "Abnormality of the abdominal wall", + "Hernia", + "herniated anatomical entity", + "Hernia of the abdominal wall", + "Abnormal umbilicus morphology", "umbilicus", "connective tissue", - "herniated anatomical entity", - "herniated abdominal wall", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "abnormal amniotic fluid", - "Abnormality of prenatal development or birth", - "Renal insufficiency", - "late embryo", - "Oligohydramnios", - "amniotic fluid", + "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", - "abnormal cardiac atrium morphology", - "abnormal interatrial 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", - "interventricular septum", "abnormal hematopoietic cell morphology", "Abnormal connection of the cardiac segments", - "abnormally increased volume of anatomical entity", "Ventricular hypertrophy", "abnormal pulmonary valve morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "cardiac septum", + "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", - "abnormal cardiac septum morphology", - "hypertrophic cardiac ventricle", "hypertrophic heart right ventricle", + "heart layer", "Abnormal myocardium morphology", "layer of muscle tissue", "abnormal myocardium morphology", - "heart layer", "abnormal abdominal wall", "embryonic cardiovascular system", "heart vasculature", "response to stimulus", "ductus arteriosus", - "abnormal coronary vessel morphology", "abnormal number of anatomical enitites of type myeloid cell", "thoracic segment blood vessel", "coronary vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", + "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", "abnormal incomplete closing of the ductus arteriosus", @@ -2105,187 +2094,175 @@ def search(): "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", - "aorta", "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", - "shape longitudinal arch of pes", "Pes planus", "flat anatomical entity", - "abnormally fused anatomical entity and pedal digit", "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", - "neurocranium bone", "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", - "neurocranium", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal head bone morphology", - "abnormal shape of frontal cortex", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", "abnormal vault of skull", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", + "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", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", "vertebral column", - "vertebra", + "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 neural tube 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", - "tube formation", - "neural tube", - "presumptive structure", "Abnormality of the inner ear", "abnormal vertebral column morphology", - "face", - "aplasia or hypoplasia of manual digit", - "Abnormality of the vasculature", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "Vertebral arch anomaly", + "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 systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal common carotid artery plus branches morphology", - "jaw region", - "artery", - "abnormal anatomical entity 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", - "Abnormality of the orbital region", - "roof of mouth", "paralysed cranial nerve", - "Abnormal cranial nerve physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal neocortex morphology", - "decreased biological_process", - "Eukaryota", - "Eumetazoa", - "Aplasia/Hypoplasia affecting the uvea", - "anterior uvea", - "vestibulo-auditory system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "head bone", - "shape digit", - "multi-tissue structure", - "bodily fluid", - "abnormal peripheral nervous system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "appendage girdle complex", - "subdivision of head", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "Abnormal morphology of ulna", - "Aplasia/Hypoplasia of the iris", - "mouth", - "spinal cord", - "appendicular skeleton", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "abnormally formed anatomical entity", - "absent sperm", + "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", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "Abnormality of limbs", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "appendage girdle complex", + "subdivision of head", "ulna endochondral element", "abnormal shape of cornea", "abnormal forebrain morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "neural tube formation", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "Anal atresia", - "postcranial axial skeletal system", - "Clubbing of toes", - "Abnormal uvea 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", - "zeugopod", - "skeletal element", + "Abnormal forebrain morphology", "paired limb/fin", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "bone element", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal digestive system morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", "septum", "Abnormality of limb bone morphology", - "Abnormal forearm bone morphology", - "root", - "Abnormal forebrain morphology", "developing anatomical structure", "skeleton of limb", "forelimb zeugopod skeleton", @@ -2293,51 +2270,75 @@ def search(): "subdivision of oviduct", "limb bone", "pectoral appendage skeleton", - "Abnormal blood vessel morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", + "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 vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", "abnormal cardiovascular system", "Abnormal reproductive system morphology", "abnormal blood vessel morphology", "abnormal parasympathetic nervous system morphology", "abnormal embryo morphology", "Abnormal venous morphology", - "Aplasia/Hypoplasia affecting the eye", "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", - "Abnormality of the forehead", - "intromittent organ", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", "organism", "secondary palate", - "penis", - "Orofacial cleft", - "digestive system element", "autopod bone", "Neurodevelopmental abnormality", "manual digit phalanx endochondral element", @@ -2347,30 +2348,11 @@ def search(): "abnormal cardiovascular system morphology", "Abnormality of mental function", "nervous system process", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "abnormality of internal male genitalia physiology", - "decreased length of forelimb zeugopod bone", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", + "skeleton of digitopodium", "Abnormal preputium morphology", - "Neural tube defect", - "organ system subdivision", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", "forelimb bone", "Abnormal uvula morphology", - "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", "ventricular system of central nervous system", "Abnormal shape of the frontal region", "central nervous system", @@ -2381,6 +2363,14 @@ def search(): "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", @@ -2388,53 +2378,56 @@ def search(): "abnormal heart layer morphology", "Abnormal frontal bone morphology", "Abnormality of lower limb joint", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", + "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", - "cerebrospinal fluid", "abnormal nervous system", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "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", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal voluntary movement behavior", - "tissue", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", + "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", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "embryo", - "Absent testis", - "exocrine system", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", "phenotype by ontology source", "Abnormality of the male genitalia", "Abnormality of blood and blood-forming tissues", @@ -2444,150 +2437,57 @@ def search(): "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", - "anatomical system", - "upper digestive tract", - "dorsum", - "cranial nerve", - "testis", - "reproductive structure", - "abnormal ulna morphology", - "gonad", - "Decreased anatomical entity mass density", - "ganglion", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "iris", - "absent gamete", - "naris", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "internal male genitalia", - "digestive system", - "curved anatomical entity", - "decreased length of long bone", - "material entity", - "increased reflex", - "long bone", + "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", - "system process", - "male gamete", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "entire sense organ system", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "organ", - "pedal digit plus metapodial segment", - "occurrent", - "abnormal male reproductive organ morphology", - "pedal digit phalanx endochondral element", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "sensory system", - "absent sperm in the independent continuant", - "pelvic region element", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "reproduction", - "vessel", - "lateral structure", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "All", - "Abnormal bone structure", - "male reproductive organ", - "abnormal blood cell morphology", - "abnormal cell", - "disconnected anatomical group", - "upper limb segment", - "biological_process", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "delayed biological_process", - "systemic artery", - "organism substance", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal leukocyte morphology", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "neuron projection bundle", - "Abnormal spinal cord morphology", - "external male genitalia", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "independent continuant", - "anatomical line between pupils", - "abnormal number of anatomical enitites of type anatomical entity", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "hepatobiliary system", - "subdivision of skeletal system", - "Abnormal external genitalia", "pulmonary valve", "cellular organisms", "vertebral element", @@ -2595,54 +2495,144 @@ def search(): "bone of free limb or fin", "abnormal pedal digit morphology", "abnormal ear", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "abnormal gamete generation", - "Abnormality of the curvature of the cornea", + "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", - "limb", - "respiratory system", - "hip joint", + "abnormal peripheral nervous system morphology", + "bodily fluid", + "multi-tissue structure", "abnormal ear morphology", "abnormal number of anatomical enitites of type sperm", - "Abnormality of the cardiovascular system", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "dorsal region element", - "abnormal opening of the anatomical entity", + "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", - "multicellular anatomical structure", - "hematopoietic system", "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", - "internal genitalia", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal tracheobronchial tree morphology", "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Abnormal ear morphology", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "abnormal internal genitalia", - "ocular surface region", + "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", @@ -2653,80 +2643,24 @@ def search(): "anus atresia", "abnormal skull morphology", "Short long bone", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "neural tube development", - "external genitalia", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal limb bone morphology", - "tunica fibrosa of eyeball", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "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", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormal esophagus morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "process", + "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", - "Abnormality of the nose", - "developmental process involved in reproduction", "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", "aplasia or hypoplasia of anatomical entity", "limb long bone", "compound organ", "eye", - "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 anterior uvea morphology", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "cerebral cortex", - "tracheobronchial tree", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the peripheral nervous system", - "trunk region element", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", + "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", @@ -2734,53 +2668,129 @@ def search(): "Short palpebral fissure", "Abnormal skeletal morphology", "increased pigmentation", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal bone element mass density", - "main body axis", - "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", - "external soft tissue zone", - "digit plus metapodial segment", - "head", + "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", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal heart morphology", - "appendage girdle region", - "anatomical structure morphogenesis", - "abnormal limb bone", - "abnormal spinal cord morphology", - "Hypogonadism", - "arm bone", - "urethral opening", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "sense organ", + "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", - "abnormality of camera-type eye physiology", - "organism subdivision", "subdivision of digestive tract", "Abnormal pinna morphology", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "respiratory airway", - "abnormal secondary palate 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", @@ -2792,28 +2802,45 @@ def search(): "anterior chamber of eyeball", "abnormal development of anatomical entity", "increased biological_process", - "abnormal postcranial axial skeleton morphology", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "embryo development", - "brain gray matter", - "Abnormal tracheobronchial morphology", + "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", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", + "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", @@ -2821,10 +2848,6 @@ def search(): "Short stature", "Abnormality of the vertebral column", "abnormal digestive system", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal morphology of the great vessels", - "pectoral complex", "flat longitudinal arch of pes", "abnormal bone of pectoral complex morphology", "orifice", @@ -2832,6 +2855,27 @@ def search(): "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", @@ -2847,192 +2891,121 @@ def search(): "Aplasia/Hypoplasia of the testes", "left cardiac chamber", "Slanting of the palpebral fissure", - "Hip dislocation", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal long bone morphology", - "digitopodium bone", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "lower respiratory tract", - "visual system", - "abnormal camera-type eye morphology", + "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", "orbital region", - "multicellular organism development", - "Ventriculomegaly", - "Abnormal anterior eye segment morphology", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal bony vertebral centrum morphology", "abnormal alimentary part of gastrointestinal system", "Abnormal carotid artery morphology", "Astigmatism", - "circulatory organ", - "uvea", - "shape cornea", - "paired limb/fin segment", "pelvic girdle region", - "simple eye", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", "abnormal posterior nasal aperture morphology", "curvature anatomical entity", + "abnormal camera-type eye morphology", "abnormal orbital region", - "morphogenesis of an epithelium", - "epithelial tube morphogenesis", - "abnormal palpebral fissure", - "abnormal tube formation", - "circulatory system", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "multicellular organismal-level homeostasis", - "anterior segment of eyeball", - "chordate embryonic development", - "skeleton of digitopodium", - "embryonic epithelial tube formation", - "cranium", - "dermatocranium", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "neural tube closure", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "manus", - "abnormal nose morphology", - "embryonic tissue", - "ileum", - "Ventricular septal defect", - "small intestine", - "Abnormal jaw morphology", - "irregular bone", - "Meckel diverticulum", - "trunk bone", - "Azoospermia", - "Abnormal small intestine morphology", - "skeleton of lower jaw", - "abnormal small intestine", + "abnormal bony vertebral centrum morphology", + "simple eye", "anus", "Abnormal skull morphology", - "Abnormal anus morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "abnormal anus", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", "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", - "Weight loss", - "Decreased body weight", - "autopodial extension", "growth", "cardiac valve", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", + "Decreased body weight", + "autopodial extension", "abnormal forelimb zeugopod bone", "valve", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", "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", "gamete", "upper jaw region", - "Abnormal eyelid morphology", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "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", - "palpebral fissure", "Abnormal ocular adnexa morphology", - "Upslanted palpebral fissure", - "manual digit plus metapodial segment", - "Abnormal bone ossification", + "Abnormal eyelid morphology", "female reproductive organ", "ocular adnexa", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", - "opaque anatomical entity", + "palpebral fissure", + "abnormal lens of camera-type eye morphology", + "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "Cataract", - "abnormal lens of camera-type eye morphology", - "Atrial septal defect", - "drooping anatomical entity", + "opaque anatomical entity", "clavate digit", "shape eyelid", + "Atrial septal defect", + "drooping anatomical entity", "Ptosis", "Abnormal cornea morphology", "gland", - "abnormal artery morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal penis morphology", - "abnormal cranium morphology", "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", + "cranial skeletal system", + "nose", + "endocrine gland", + "sperm", + "internal naris", "Neoplasm by anatomical site", "olfactory system", "Abnormality of the nervous system", @@ -3041,81 +3014,66 @@ def search(): "bony vertebral centrum", "abnormal olfactory system morphology", "abnormal nose", - "sperm", - "internal naris", - "olfactory organ", - "cranial skeletal system", - "nose", - "endocrine gland", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", "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", - "excretory system", - "abnormal urethra", - "renal system", "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", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", - "Scoliosis", "Abnormal curvature of the vertebral column", - "tube closure", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", + "Scoliosis", + "root", "regional part of nervous system", "Abnormal midface morphology", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Abnormal vascular morphology", - "Abnormality of skull size", + "Decreased head circumference", + "Metazoa", + "abnormal parasympathetic ganglion morphology", "Abnormal pulmonary valve morphology", - "abnormal anterior chamber of eyeball morphology", "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal anterior chamber of eyeball morphology", "telencephalon", - "Decreased head circumference", + "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", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", "abnormality of renal system physiology", "abnormal esophagus morphology", "abnormal size of anatomical entity", - "Leukopenia", - "abnormal hematopoietic system", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal number of anatomical enitites of type hematopoietic cell", "digit 1 plus metapodial segment", "synovial joint", "Abnormality of the anus", @@ -3124,26 +3082,32 @@ def search(): "abnormally decreased number of cell", "Functional abnormality of the inner ear", "pedal digit", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", + "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", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "Myelodysplasia", + "haemolymphatic fluid", + "abnormal hematopoietic system", + "delayed growth", "abnormal immune system morphology", "Hematological neoplasm", "Reduced bone mineral density", - "abnormal size of brain ventricle", - "nerve", - "Frontal bossing", - "zone of organ", - "increased size of the brain ventricle", + "Myelodysplasia", "Abnormality of vision", "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", @@ -3152,43 +3116,63 @@ def search(): "pedal digit bone", "cardiac atrium", "Abnormality of the integument", - "delayed growth", + "abnormal size of brain ventricle", + "zone of organ", + "increased size of the brain ventricle", + "liver", + "abnormal endocrine system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", "Abnormality of the endocrine system", "forelimb", "skeleton of pelvic complex", - "abnormal endocrine system", "abdominal segment of trunk", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "glandular system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", - "Decreased fertility", + "Abnormality of the liver", "behavior", "abdomen element", - "Abnormality of the liver", - "liver", + "glandular system", "abnormal hypothalamus-pituitary axis", - "increased anatomical entity length in independent continuant", - "Hypertelorism", + "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", + "Hypertelorism", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", "immaterial anatomical entity", "abnormal anatomical entity, curved", "anatomical line", - "non-material anatomical boundary", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", + "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", - "duodenum", - "Abnormality of the lower limb", + "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", @@ -3197,73 +3181,104 @@ def search(): "skeleton of pes", "abnormal incomplete closing of the interventricular septum", "Abnormal toe morphology", - "pes", - "abnormal phalanx morphology", - "Choanal atresia", - "acropodial skeleton", - "digitopodium region", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", "Duodenal stenosis", "Abnormal foot morphology", "Hypermelanotic macule", - "digit", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "abnormal digit morphology", - "shape forehead", - "posterior region of body", - "individual digit of digitopodial skeleton", - "phalanx endochondral element", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal digit", "leg", "abnormally decreased number of anatomical entity in the blood", "phalanx of pes", + "abnormal long bone morphology", + "digitopodium bone", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", "phalanx", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal autopod region morphology", - "nervous system cell part layer", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", "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", + "digitopodium region", "genitourinary system", "Limb undergrowth", - "Abnormality of the kidney", "abnormal kidney morphology", "skull", "femur", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormality of the kidney", "Decreased fertility in males", - "primary circulatory organ", - "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", + "prominent anatomical entity", + "abnormal roof of mouth morphology", "anatomical projection", + "abnormal midface morphology", + "mouth", + "Aplasia/Hypoplasia of the iris", + "Abnormal oral cavity morphology", "Abnormal aortic valve morphology", "midface", "abnormal soft palate morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", "Abnormal soft palate morphology", "shape palpebral fissure", "abnormal palatine uvula morphology", "anatomical cavity", - "abnormal midface morphology", - "palatine uvula", - "Abnormal erythrocyte morphology", - "soft palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal asymmetry of face", - "abnormal integument", + "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", + "Abnormal hip joint morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "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", "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", @@ -3274,78 +3289,66 @@ def search(): "abnormal cell morphology", "anatomical collection", "Macule", + "abnormal cornea, curved", + "pigmentation", "eyeball of camera-type eye", "abnormal upper urinary tract", "abnormal skin of body", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", "Abnormality of skin morphology", - "integument", "abnormality of kidney physiology", "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "increased biological_process in skin of body", - "abnormal cornea, curved", - "pigmentation", - "increased pigmentation in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal manus", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the hand", "skeleton of manus", + "Aplasia/Hypoplasia of fingers", "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "Aplasia/Hypoplasia of fingers", - "abnormal manus", "decreased pigmentation in skin of body", "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/hypoplasia involving the skeleton", - "abnormal manus morphology", "vascular system", "abnormal anterior segment of eyeball morphology", "aplasia or hypoplasia of skeleton", + "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", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", "appendage", "abnormally fused digit and digit", "Clinodactyly of the 5th finger", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", "biogenic amine secreting cell", "ossification", "Abnormality of bone mineral density", - "manual digit 5", "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", "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", - "deviation of digit towards the middle", - "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 manual digit", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "manual digit 5", "hypertrophic multicellular anatomical structure", "dermal skeletal element", "decreased length of anatomical entity in independent continuant", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "forelimb zeugopod bone hypoplasia", + "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", @@ -3353,96 +3356,115 @@ def search(): "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", "increased height of the secondary palate", "Tetralogy of Fallot", "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "articulation", - "skeletal joint dislocation", - "articular system", - "peripheral nervous system", - "abnormal hip joint morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", + "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", - "skin of body", + "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", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "abnormal hindlimb stylopod morphology", - "Abnormality of femur 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", - "stylopod", - "upper leg bone", + "Abnormality of femur morphology", "Abnormality of enteric ganglion morphology", - "Unusual infection", - "abnormal enteric ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "enteric ganglion", + "abnormal intestine morphology", "abnormal face morphology", "axial skeletal system", - "abnormal intestine morphology", "autonomic ganglion", - "parasympathetic nervous system", - "Abnormality of the autonomic nervous system", - "autonomic nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", + "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 vascular system morphology", - "cortex of cerebral lobe", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "abnormal roof of mouth morphology", - "prominent anatomical entity", + "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:0060778", + "id": "MONDO:0001083", "category": "biolink:Disease", - "name": "adult Fanconi syndrome", + "name": "Fanconi renotubular 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 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.", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624", + ], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], + "synonym": [ + "De toni-Fanconi syndrome", + "De toni-debre-Fanconi syndrome", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", + "Lignac-Fanconi syndrome", + "adult Fanconi syndrome", + "congenital Fanconi syndrome", + "deToni Fanconi syndrome", + "infantile nephropathic cystinosis", + "toni-debre-Fanconi syndrome", + ], "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_closure": ["HP:0003581", "HP:0012823", "HP:0000001", "HP:0003674", "HP:0031797"], - "has_phenotype_closure_label": ["Clinical course", "All", "Adult onset", "Clinical modifier", "Onset"], - "has_phenotype_count": 1, + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": None, "score": None, }, @@ -3471,472 +3493,450 @@ def search(): "Multiple cutaneous malignancies", ], "has_phenotype_closure": [ - "HP:0001574", + "HP:0002664", "UBERON:0004121", - "HP:0007606", - "HP:0011793", + "UPHENO:0002635", "UBERON:0002097", "UBERON:0002199", "UBERON:0002416", - "HP:0002664", - "UPHENO:0002635", + "HP:0001574", + "HP:0007606", + "HP:0011793", + "UBERON:0000479", + "UPHENO:0084987", + "UPHENO:0011498", + "HP:0025354", + "UPHENO:0085118", + "UPHENO:0086172", + "UPHENO:0085144", + "HP:0001876", + "UBERON:0002371", "UPHENO:0085302", "HP:0032251", - "HP:0001876", - "UPHENO:0085195", - "UPHENO:0084928", - "UPHENO:0076675", "CL:0002242", - "UPHENO:0086005", - "CL:0000219", "CL:0001035", "UBERON:0002193", "CL:0000225", - "CL:0000255", - "UPHENO:0011498", - "HP:0025354", - "CL:0000151", "HP:0011873", - "UBERON:0002371", - "UPHENO:0087123", - "HP:0011842", - "UPHENO:0063722", + "CL:0000151", + "CL:0000255", + "UPHENO:0077426", + "UPHENO:0086173", + "HP:0011893", + "HP:0020047", + "UPHENO:0085195", "HP:0001872", - "HP:0012145", - "UPHENO:0084987", + "UPHENO:0063722", + "CL:0000219", + "UPHENO:0086005", + "UPHENO:0084928", "UPHENO:0085068", "UPHENO:0006910", "UPHENO:0086049", - "UPHENO:0085118", - "UPHENO:0086172", - "UBERON:0000479", + "UPHENO:0085984", + "UPHENO:0076675", + "CL:0000232", + "CL:0000458", + "CL:0000763", + "CL:0000738", + "UPHENO:0086045", "HP:0005561", "UPHENO:0087355", + "UPHENO:0087123", + "HP:0011842", + "CL:0002092", + "HP:0012145", + "CL:0000233", + "UPHENO:0004459", "HP:0011875", "UPHENO:0088166", "UPHENO:0076703", - "CL:0002092", - "UPHENO:0085144", - "HP:0011893", - "HP:0020047", - "UPHENO:0004459", - "CL:0000233", - "CL:0000232", - "CL:0000458", - "CL:0000763", - "UPHENO:0085371", "CL:0000457", - "CL:0000738", - "UPHENO:0086045", - "UPHENO:0085984", - "UPHENO:0077426", - "UPHENO:0086173", - "NCBITaxon:33154", + "UPHENO:0085371", + "HP:0002107", "NCBITaxon:6072", - "BFO:0000020", - "BFO:0000015", "HP:0008069", "UBERON:0001474", "HP:0005939", - "CL:0000000", - "UPHENO:0054970", - "HP:0002719", - "BFO:0000004", - "UBERON:0001005", - "UPHENO:0080377", - "UBERON:0001062", - "UBERON:0000042", - "UBERON:0002204", - "UBERON:0004765", - "UBERON:0034923", - "UPHENO:0081440", "BFO:0000040", "UPHENO:0074624", "UBERON:0015212", - "UPHENO:0083263", - "UBERON:0000468", - "UPHENO:0001005", - "UBERON:0002390", - "GO:0006954", - "HP:0002754", + "NCBITaxon:33154", + "UBERON:0010000", "HP:0010978", + "HP:0002754", "UPHENO:0002964", "HP:0000951", "HP:0012252", - "GO:0006952", - "HP:0002715", - "UBERON:0000025", - "CL:0000329", - "HP:0012647", - "UPHENO:0081590", - "UPHENO:0003811", - "UPHENO:0082682", + "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", - "HP:0010987", - "UBERON:0000977", - "HP:0000924", + "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", - "BFO:0000001", - "UPHENO:0080662", - "UBERON:0004120", - "UPHENO:0001002", - "UPHENO:0074687", - "UPHENO:0080693", - "UPHENO:0080221", - "UPHENO:0074685", - "UBERON:0000481", - "UPHENO:0002332", - "HP:0033127", - "UPHENO:0059829", - "UBERON:0002405", - "NCBITaxon:2759", "UBERON:0000061", "HP:0001881", "UPHENO:0085344", "HP:0002205", "UBERON:0000065", - "UBERON:0000467", - "UBERON:0002100", - "UBERON:0011216", - "UBERON:0001434", - "HP:0011843", - "HP:0002088", - "UPHENO:0001003", - "HP:0000118", - "UBERON:0000064", - "UPHENO:0086908", + "UPHENO:0003811", + "UPHENO:0082682", + "BFO:0000004", + "UBERON:0001005", "UPHENO:0001001", + "UPHENO:0086908", "UPHENO:0002263", - "UPHENO:0082875", - "UBERON:0010000", + "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", "CL:0000764", "UPHENO:0074572", "NCBITaxon:1", + "UBERON:0001434", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UPHENO:0082875", "UPHENO:0002948", "UPHENO:0049588", - "UPHENO:0002536", - "UPHENO:0002448", - "UBERON:0015203", - "UBERON:0005906", - "CL:0000988", - "UBERON:0000465", - "UPHENO:0082723", - "UPHENO:0015280", + "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:0087339", - "UPHENO:0087433", - "UPHENO:0076684", - "UBERON:0001558", "UBERON:0013701", "CL:0000081", "UBERON:0009569", - "UBERON:0000475", - "UPHENO:0020748", - "UBERON:0000062", "HP:0002086", "HP:0002783", + "UBERON:0004119", + "UBERON:0000170", + "HP:0001873", + "UBERON:0013702", + "UPHENO:0019970", + "GO:0008150", + "HP:0002795", "UPHENO:0004536", - "UBERON:0003103", - "GO:0050896", - "UPHENO:0049584", - "HP:0012649", - "UBERON:0000060", - "UBERON:0011676", - "UBERON:0000072", + "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", "UBERON:0004111", "UBERON:0005178", - "HP:0032101", - "HP:0001871", - "UPHENO:0049586", - "UPHENO:0075696", - "HP:0002103", - "UBERON:0005181", - "HP:0025461", - "UPHENO:0085189", - "NCBITaxon:33208", - "UBERON:0000077", - "UBERON:0002075", - "HP:0001873", - "UBERON:0013702", - "UPHENO:0019970", - "GO:0008150", - "HP:0002795", "UBERON:0034925", - "UBERON:0002048", - "UBERON:0000171", - "UBERON:0005177", - "UBERON:0004119", - "UBERON:0000170", - "HP:0002107", + "UBERON:0003103", + "UPHENO:0049584", + "GO:0050896", + "HP:0012649", + "UBERON:0000060", + "UBERON:0000062", + "UBERON:0009778", + "HP:0010987", + "HP:0000924", + "UBERON:0000977", "GO:0006950", "NCBITaxon:131567", - "UBERON:0009778", ], "has_phenotype_closure_label": [ "Abnormality of the skin", + "Neoplasm by anatomical site", + "Neoplasm", + "integumental system", "Multiple cutaneous malignancies", "Neoplasm of the skin", - "integumental system", - "Neoplasm", - "Neoplasm by anatomical site", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "bone marrow", "cell", - "Pancytopenia", "Abnormal immune system morphology", + "Pancytopenia", "serotonin secreting cell", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal bone marrow cell", - "Abnormal cell morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "bone marrow", - "abnormal bone marrow cell morphology", - "skeletal element", - "abnormal hematopoietic system morphology", - "abnormally decreased number of cell", - "bone element", "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", - "platelet", - "Abnormal cellular immune system morphology", - "erythrocyte", - "leukocyte", - "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", "abnormal platelet", - "Abnormality of bone marrow cell morphology", - "bone cell", + "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", - "abnormal leukocyte morphology", + "abnormal hematopoietic system morphology", + "Abnormal cellular 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", - "increased biological_process in independent continuant", + "non-connected functional system", + "increased qualitatively inflammatory response", + "subdivision of tube", + "Abnormal leukocyte morphology", + "response to stimulus", "changed biological_process rate in independent continuant", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Eukaryota", - "bone marrow cell", - "hematopoietic system", - "Abnormality of the skeletal system", - "anatomical entity", - "Abnormal inflammatory response", + "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", - "increased inflammatory response in bone element", - "abnormally decreased number of myeloid cell", - "compound organ", - "abnormal anatomical entity", - "occurrent", - "Osteomyelitis", - "anucleate cell", - "phenotype by ontology source", - "abnormal cell", - "Abnormal respiratory system physiology", - "increased qualitatively biological_process in independent continuant", - "anatomical structure", - "anatomical conduit", - "increased qualitatively response to stimulus", - "Thrombocytopenia", - "Abnormality of immune system physiology", - "viscus", - "abnormal immune system morphology", - "Eumetazoa", - "defense response", - "Abnormality of the integument", - "protein-containing material entity", - "motile cell", - "independent continuant", - "material entity", + "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", - "biological_process", + "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", - "Increased inflammatory response", - "tissue", - "continuant", - "entity", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type cell", - "increased inflammatory response in independent continuant", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "multicellular organism", - "Abnormal myeloid cell morphology", - "changed biological_process rate", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "lateral structure", - "skin of body", - "skeletal system", - "abnormal skin of body", - "musculoskeletal system", - "Abnormal pleura morphology", - "non-connected functional system", - "increased qualitatively inflammatory response", - "subdivision of tube", - "abnormal inflammatory response", - "Abnormal leukocyte morphology", - "response to stimulus", "Abnormal skeletal morphology", "abnormal response to stimulus", - "abnormal skeletal system", - "increased biological_process", + "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", "integument", "eukaryotic cell", "increased qualitatively inflammatory response in independent continuant", "inflammatory response", "specifically dependent continuant", - "organ system subdivision", - "response to stress", - "ectoderm-derived structure", - "proximo-distal subdivision of respiratory tract", - "increased qualitatively biological_process", - "pleural sac", - "biogenic amine secreting cell", - "Abnormal musculoskeletal physiology", - "Abnormal platelet count", - "abnormal platelet morphology", - "material anatomical entity", + "biological_process", + "tissue", + "continuant", "erythroid lineage cell", "multicellular anatomical structure", - "anatomical system", - "Abnormality of thrombocytes", - "organ", - "organism", + "abnormal skeletal system", + "increased biological_process", + "abnormal immune system morphology", + "Eumetazoa", + "defense response", + "Abnormality of the integument", + "protein-containing material entity", + "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", + "blood cell", + "respiration organ", + "pair of lungs", + "trunk region element", + "thoracic segment organ", + "anatomical collection", "abnormal respiratory system morphology", - "Abnormal lung morphology", - "abnormal anatomical entity morphology in the independent continuant", - "organ part", - "Recurrent respiratory infections", - "respiratory system", - "Multiple bilateral pneumothoraces", "main body axis", "abnormally decreased number of hematopoietic cell", "serous membrane", "abnormal biological_process in independent continuant", "Unusual infection", - "Metazoa", "Abnormality of the immune system", "multi-tissue structure", - "Recurrent infections", + "Metazoa", "abnormal blood cell", "abnormal response to stress", "subdivision of trunk", "Abnormal respiratory system morphology", - "Abnormality of the respiratory system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Recurrent lower respiratory tract infections", - "endoderm-derived structure", - "pair of lungs", - "blood cell", - "respiration organ", + "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", - "thoracic segment organ", - "anatomical collection", - "trunk region element", - "body proper", "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", + "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", - "All", - "abnormal lung morphology", - "tube", - "Pneumothorax", - "respiratory tract", - "organism subdivision", - "respiratory airway", - "thoracic cavity element", - "subdivision of organism along main body axis", - "lung", - "abnormal number of anatomical enitites of type myeloid cell", - "mixed endoderm/mesoderm-derived structure", "lower respiratory tract", "anatomical wall", - "process", - "pleura", "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", - "abnormal bone marrow morphology", + "skeletal element", ], "has_phenotype_count": 5, "highlight": None, "score": None, }, { - "id": "MONDO:0001083", + "id": "MONDO:0060778", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", + "name": "adult Fanconi syndrome", "full_name": None, "deprecated": None, - "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.", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624", - ], + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "xref": ["NCIT:C4377"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": [ - "De toni-Fanconi syndrome", - "De toni-debre-Fanconi syndrome", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", - "Lignac-Fanconi syndrome", - "adult Fanconi syndrome", - "congenital Fanconi syndrome", - "deToni Fanconi syndrome", - "infantile nephropathic cystinosis", - "toni-debre-Fanconi syndrome", - ], + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, + "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_count": 1, "highlight": None, "score": None, }, @@ -3981,12 +3981,12 @@ def search(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0000117", "HP:0001824", "HP:0001324", "HP:0004910", "HP:0001510", + "HP:0002749", "HP:0003774", "HP:0002150", "HP:0001944", @@ -4012,12 +4012,12 @@ def search(): "HP:0002049", ], "has_phenotype_label": [ - "Osteomalacia", "Renal phosphate wasting", "Weight loss", "Muscle weakness", "Bicarbonate-wasting renal tubular acidosis", "Growth delay", + "Osteomalacia", "Stage 5 chronic kidney disease", "Hypercalciuria", "Dehydration", @@ -4043,184 +4043,193 @@ def search(): "Proximal renal tubular acidosis", ], "has_phenotype_closure": [ - "UPHENO:0068495", - "UPHENO:0046286", - "UPHENO:0051930", - "UPHENO:0068091", - "HP:0031980", - "CHEBI:25806", - "HP:0032180", - "UPHENO:0004459", - "GO:0098771", + "UPHENO:0051670", + "HP:0002909", "CHEBI:50860", - "UPHENO:0001001", + "CHEBI:36962", + "CHEBI:25806", "UPHENO:0081544", - "HP:0011015", - "UPHENO:0080555", - "UBERON:0000170", - "CHEBI:27226", - "HP:0004323", - "HP:0002206", - "UPHENO:0034438", + "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", - "HP:0012252", - "HP:0002088", - "PATO:0000001", - "UBERON:0001005", "UPHENO:0087433", "UBERON:0000475", "HP:0012598", + "UPHENO:0034438", + "HP:0012252", + "HP:0002206", + "UBERON:0000170", + "CHEBI:27226", "UPHENO:0068169", "UBERON:0013522", "UBERON:0001004", - "UBERON:0002075", - "CHEBI:22563", - "GO:0065007", + "HP:0004323", + "HP:0002088", + "PATO:0000001", "GO:0033500", "GO:0043229", "UPHENO:0020584", "UPHENO:0050619", - "GO:0065008", - "UPHENO:0086172", + "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", - "CHEBI:22984", - "CHEBI:26020", + "HP:0004912", + "UPHENO:0066781", "GO:0050878", + "UPHENO:0051930", "CHEBI:33521", "CHEBI:36586", - "HP:0011280", - "UPHENO:0051704", + "CHEBI:22984", + "CHEBI:26020", "HP:0000083", "UPHENO:0082794", "HP:0011804", - "GO:0042593", - "UPHENO:0049873", + "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", - "UPHENO:0079536", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0034149", - "UPHENO:0019970", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UBERON:0002390", + "UBERON:0000479", + "CHEBI:83821", + "UPHENO:0000541", "UPHENO:0051739", "UPHENO:0066943", - "UBERON:0011143", - "HP:0003076", - "UPHENO:0051847", - "UBERON:0005173", - "UBERON:0000916", - "HP:0000124", - "CHEBI:16646", - "UPHENO:0067999", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0000463", - "CHEBI:16541", - "CHEBI:18282", - "HP:0003126", + "UBERON:0002390", "HP:0004325", "CHEBI:35584", - "UPHENO:0002803", - "UBERON:0005172", "UPHENO:0078555", - "HP:0012622", - "UBERON:0006555", "UPHENO:0081547", "CHEBI:25414", - "UBERON:0004122", "UPHENO:0086132", - "UBERON:0004819", - "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", - "CHEBI:83821", - "UPHENO:0000541", - "CHEBI:22313", - "HP:0000077", - "CHEBI:78616", + "CHEBI:18059", + "UBERON:0000916", + "UPHENO:0079536", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0034149", + "HP:0012072", + "GO:0008150", "UPHENO:0051763", - "HP:0006530", - "UPHENO:0066927", - "HP:0020129", - "UBERON:0004765", - "UBERON:0000467", - "CHEBI:33273", - "UPHENO:0054261", - "HP:0033127", - "UBERON:0001630", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0002150", - "HP:0011842", - "UPHENO:0068089", - "UPHENO:0075696", - "HP:0012599", - "HP:0003330", - "HP:0000924", - "UBERON:0002113", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051668", + "UPHENO:0068491", + "UBERON:0001062", + "HP:0001510", + "CHEBI:25696", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0000543", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0068036", + "UPHENO:0081548", "CHEBI:33579", - "HP:0004360", - "HP:0001941", - "UPHENO:0051804", - "UPHENO:0066781", - "HP:0004912", - "CHEBI:35570", - "HP:0001871", + "UPHENO:0051668", + "GO:0009112", + "CHEBI:36359", + "CHEBI:33675", + "UBERON:8450002", + "CHEBI:33302", "GO:0032501", "UBERON:0013701", - "UPHENO:0050433", - "UPHENO:0082539", - "UPHENO:0046344", - "UBERON:0000489", - "UBERON:0000465", - "CHEBI:33582", - "HP:0004348", - "CHEBI:23906", - "HP:0003774", - "HP:0004349", - "BFO:0000040", - "UBERON:0000179", + "UBERON:0000025", + "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", + "HP:0001939", + "CHEBI:26082", + "GO:0040007", + "CHEBI:36357", + "UPHENO:0077821", + "UPHENO:0019970", "CHEBI:33595", "UPHENO:0081550", - "UPHENO:0068064", - "BFO:0000001", - "UBERON:0015212", - "HP:0012211", - "UBERON:0002204", - "UPHENO:0046348", - "UPHENO:0081440", - "UPHENO:0081548", - "UPHENO:0076703", - "UBERON:0000065", - "HP:0002653", - "CHEBI:33241", - "UPHENO:0084654", - "CHEBI:35568", + "HP:0002086", + "GO:0001503", "UBERON:0000062", "CHEBI:26401", "HP:0003119", - "HP:0002086", - "GO:0001503", - "HP:0001510", - "CHEBI:25696", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0084653", + "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", @@ -4228,218 +4237,226 @@ def search(): "UBERON:0004111", "GO:0043227", "BFO:0000002", - "UPHENO:0000543", - "UPHENO:0051686", - "CHEBI:36915", - "UPHENO:0068036", - "UBERON:0001008", - "CHEBI:24833", - "CHEBI:26079", - "UBERON:0010000", - "CHEBI:33839", - "HP:0010996", - "CHEBI:33635", - "CHEBI:25384", - "CHEBI:36916", - "UPHENO:0079822", - "CHEBI:26469", - "UBERON:0011676", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0000178", - "UPHENO:0078646", + "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", + "HP:0003774", + "HP:0004349", + "UPHENO:0050342", + "HP:0012603", + "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", - "HP:0040156", "CHEBI:33559", + "HP:0040156", "UBERON:0001015", "HP:0012606", "GO:0006144", "GO:0006629", - "UPHENO:0001005", - "UBERON:0000383", - "UPHENO:0051635", - "CHEBI:23367", - "HP:0003355", - "UPHENO:0076289", - "UPHENO:0082538", - "UPHENO:0080556", + "HP:0010996", + "CHEBI:33635", + "CHEBI:25384", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:26469", + "UBERON:0011676", "UBERON:0000174", "HP:0002900", - "CHEBI:26082", - "CHEBI:35381", - "UBERON:0005181", - "HP:0010966", - "UPHENO:0080659", - "HP:0001939", - "GO:0040007", - "UBERON:0000468", - "UBERON:0005090", - "CHEBI:33917", - "HP:0002795", - "UBERON:0001434", - "UBERON:0001474", - "CHEBI:51151", - "UPHENO:0082875", - "UPHENO:0034276", - "GO:0019752", - "UBERON:0011216", - "UBERON:0005178", - "UPHENO:0068102", - "UPHENO:0082835", - "GO:0006631", - "UPHENO:0049874", - "UPHENO:0001002", - "GO:0008152", - "UPHENO:0078592", - "UPHENO:0050791", - "UBERON:0001088", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0082542", - "GO:0009112", - "CHEBI:36359", - "UBERON:0000025", - "CHEBI:33256", - "UPHENO:0051900", - "HP:0002049", - "HP:0011014", - "HP:0430071", - "CHEBI:36360", - "UBERON:0001062", - "UPHENO:0068491", - "CHEBI:33675", - "UBERON:0005177", - "HP:0011277", - "UPHENO:0046283", - "CHEBI:36357", - "UPHENO:0077821", - "GO:0044238", - "GO:0044281", - "CHEBI:37577", - "HP:0002749", - "HP:0001507", - "GO:0005975", - "HP:0000079", - "UPHENO:0002642", - "HP:0002909", - "CHEBI:33318", - "CHEBI:24431", - "HP:0003111", - "UBERON:0000483", - "UPHENO:0082543", - "UPHENO:0010795", + "HP:0003355", + "UPHENO:0076289", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0054299", "UPHENO:0010763", "UPHENO:0034391", - "UBERON:0004120", - "CHEBI:17234", "UPHENO:0076294", "HP:0001942", + "CHEBI:17234", "UPHENO:0086128", "UBERON:0009569", - "HP:0000001", - "UPHENO:0054299", + "UPHENO:0002642", "HP:0001824", + "UBERON:0011143", "HP:0003011", - "UPHENO:0002320", - "UBERON:0002100", - "UPHENO:0068134", - "HP:0001324", - "UPHENO:0079824", - "UBERON:0000064", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0001005", + "UBERON:0000383", + "UPHENO:0051635", "BFO:0000003", "PR:000050567", "UPHENO:0068110", "UBERON:0001231", + "CHEBI:22313", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0079824", + "UBERON:0000064", + "HP:0004360", + "UBERON:0009773", + "UBERON:0004819", + "UPHENO:0002320", + "UBERON:0002100", + "UPHENO:0068134", + "HP:0001324", "UPHENO:0046284", "HP:0001947", "HP:0011849", "GO:0055086", - "UBERON:0000479", - "CHEBI:36962", + "UBERON:0005173", + "UPHENO:0050433", + "UPHENO:0080556", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0046344", + "UBERON:0000489", + "HP:0012622", + "UBERON:0006555", + "UBERON:0000915", + "CHEBI:33285", + "UBERON:0002193", + "UPHENO:0050116", "CHEBI:15693", "CHEBI:72695", "UPHENO:0050539", "UPHENO:0049904", - "GO:0048878", - "UPHENO:0082834", - "CHEBI:17544", - "CHEBI:36963", - "UPHENO:0051186", - "UBERON:0000915", - "CHEBI:33285", + "UBERON:0000179", + "HP:0430071", + "UBERON:0004120", + "HP:0011013", + "HP:0004354", "UPHENO:0049628", "CHEBI:33238", "HP:0003149", - "UBERON:0002193", - "UPHENO:0051766", - "UPHENO:0050116", - "UPHENO:0076286", - "HP:0004354", - "HP:0011013", - "HP:0012603", - "UPHENO:0050342", - "CHEBI:18059", + "HP:0001871", + "GO:0042593", + "UPHENO:0049873", + "GO:0048878", + "UPHENO:0082834", + "CHEBI:17544", "UPHENO:0051866", - "UPHENO:0046356", "UPHENO:0051887", "GO:0110165", "UPHENO:0051709", "CHEBI:35605", - "CHEBI:38166", - "CHEBI:26708", "BFO:0000004", "CHEBI:22314", - "HP:0012591", - "UPHENO:0034253", - "CHEBI:35406", - "HP:0002148", - "UPHENO:0050121", + "UPHENO:0046356", + "CHEBI:38166", + "CHEBI:26708", "UPHENO:0050080", "CHEBI:35573", - "UPHENO:0002411", - "GO:0050801", - "GO:0009987", - "UPHENO:0066739", - "UPHENO:0068296", - "UPHENO:0002816", - "UPHENO:0051937", - "UPHENO:0034351", - "CHEBI:33259", - "CHEBI:24870", + "HP:0002148", + "UPHENO:0050121", "UBERON:0002417", "HP:0000093", - "HP:0012531", - "CHEBI:24867", - "CHEBI:25213", "UPHENO:0034248", + "CHEBI:25213", "HP:0010932", + "UPHENO:0002411", + "GO:0050801", + "CHEBI:24867", + "HP:0012531", + "UPHENO:0034351", + "HP:0012591", + "UPHENO:0034253", + "CHEBI:35406", "HP:0100529", "UPHENO:0034217", - "HP:0002157", - "HP:0033354", - "GO:0006725", - "UPHENO:0068538", - "HP:0004352", - "CHEBI:33608", - "CHEBI:35366", - "CHEBI:25810", - "HP:0000117", - "CHEBI:35875", - "HP:0004364", - "GO:0044237", - "GO:0008150", - "HP:0012072", + "CHEBI:33259", + "CHEBI:24870", + "UPHENO:0002816", + "UPHENO:0051937", + "GO:0009987", + "UPHENO:0066739", + "UPHENO:0068296", "HP:0012337", "UPHENO:0068251", + "UBERON:0003103", + "HP:0001943", + "GO:0072521", + "CHEBI:33250", + "CHEBI:25367", + "HP:0011042", + "HP:0000117", + "CHEBI:35875", + "UPHENO:0068442", + "HP:0004352", "GO:0034641", "GO:0046483", "UBERON:0000061", "GO:1901360", "GO:1901564", "GO:0006139", + "CHEBI:33608", + "CHEBI:35366", + "GO:0044237", + "CHEBI:25810", + "UPHENO:0049587", + "BFO:0000015", + "CHEBI:33833", + "CHEBI:38101", + "CHEBI:33692", + "CHEBI:36914", + "CHEBI:35571", + "CHEBI:51143", + "CHEBI:35352", + "HP:0002157", + "HP:0033354", + "GO:0006725", + "UPHENO:0068538", + "UPHENO:0049748", + "CHEBI:33674", + "UPHENO:0068058", "CHEBI:37175", "UPHENO:0051688", "GO:0005739", @@ -4449,9 +4466,7 @@ def search(): "CHEBI:5686", "HP:0004359", "CHEBI:33655", - "UPHENO:0049748", - "UPHENO:0077826", - "CHEBI:51143", + "HP:0003537", "UPHENO:0051960", "UPHENO:0078616", "UPHENO:0051777", @@ -4460,25 +4475,7 @@ def search(): "HP:0004369", "CHEBI:16670", "CHEBI:25699", - "CHEBI:35352", - "UPHENO:0068442", - "CHEBI:33674", - "UPHENO:0068058", - "HP:0003537", - "CHEBI:33692", - "CHEBI:36914", - "CHEBI:35571", - "UBERON:0003103", - "HP:0001943", - "GO:0072521", - "CHEBI:33250", - "CHEBI:25367", - "HP:0011042", - "UPHENO:0049587", - "BFO:0000015", - "CHEBI:33833", - "CHEBI:38101", - "CHEBI:27171", + "UPHENO:0077826", "GO:0006807", "CHEBI:33659", "GO:0043436", @@ -4493,71 +4490,71 @@ def search(): "CHEBI:33245", "UPHENO:0050113", "CHEBI:60242", - "UPHENO:0006889", - "HP:0001944", - "CHEBI:22860", - "CHEBI:17126", + "HP:0004364", + "CHEBI:27171", + "GO:0006577", + "CHEBI:36358", "GO:0071704", "CHEBI:35284", - "UPHENO:0049723", - "HP:0010967", - "UPHENO:0050484", + "HP:0001944", + "CHEBI:22860", "UPHENO:0084472", + "HP:0001992", + "HP:0011017", + "UPHENO:0002442", + "UPHENO:0034199", + "CHEBI:17126", "GO:0044255", "GO:0006082", "HP:0010935", "GO:0005575", "UPHENO:0002448", "GO:0006575", + "GO:0009437", + "UPHENO:0084541", + "UPHENO:0034319", + "HP:0011843", + "UPHENO:0049723", + "CHEBI:25741", + "CHEBI:24651", + "UPHENO:0050484", + "GO:0043226", + "GO:0005737", + "GO:0005622", + "HP:0010967", + "UPHENO:0078640", "GO:0032787", "CHEBI:36587", "CHEBI:29067", - "UPHENO:0078640", - "HP:0012103", - "UPHENO:0084537", - "GO:0005623", "UPHENO:0082544", - "UPHENO:0051712", - "HP:0025354", - "HP:0001992", - "HP:0011017", - "UPHENO:0002442", - "UPHENO:0034199", - "GO:0043226", - "GO:0005737", - "GO:0005622", - "CHEBI:29103", - "UPHENO:0068040", - "CHEBI:25741", - "CHEBI:24651", - "UPHENO:0084541", - "UPHENO:0034319", - "HP:0011843", - "GO:0006577", - "CHEBI:36358", - "CHEBI:33575", - "CHEBI:28868", - "UPHENO:0015280", - "UPHENO:0075902", + "UPHENO:0084537", + "UPHENO:0006889", + "HP:0012103", "UPHENO:0048707", + "UPHENO:0075902", + "UPHENO:0015280", "CHEBI:27369", "CHEBI:35757", "GO:0055062", "UPHENO:0084542", - "GO:0009437", - "UPHENO:0068350", + "UPHENO:0051712", + "HP:0025354", + "GO:0005623", + "CHEBI:33575", + "CHEBI:28868", "UPHENO:0051898", "HP:0003081", "UBERON:0000171", "CHEBI:26216", "UBERON:0004119", "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0051645", "CHEBI:33296", + "HP:0010929", "UBERON:0001558", "CHEBI:26217", "CHEBI:37247", - "UPHENO:0051645", - "HP:0010929", "UBERON:0000072", "UPHENO:0051958", "CHEBI:33504", @@ -4568,81 +4565,82 @@ def search(): "HP:0001995", "GO:0055080", "HP:0004918", + "HP:0011032", + "HP:0003110", + "UPHENO:0051659", "UPHENO:0001003", "UPHENO:0068079", "HP:0003646", + "HP:0031980", "HP:6000531", "CHEBI:35604", - "HP:0011032", - "HP:0003110", - "UPHENO:0051659", - "UPHENO:0051619", "UPHENO:0051714", + "UPHENO:0051619", "HP:0003234", "HP:0012610", "UPHENO:0068024", - "UPHENO:0068247", - "CHEBI:32988", "CHEBI:35552", "CHEBI:15841", - "CHEBI:50047", "UPHENO:0051801", + "CHEBI:32988", "UBERON:0001285", "UPHENO:0068565", + "UPHENO:0068247", + "CHEBI:50047", "UPHENO:0080658", + "CHEBI:33709", + "UPHENO:0068091", "UPHENO:0049618", "UPHENO:0068144", - "CHEBI:33709", - "UPHENO:0051670", + "UPHENO:0046286", + "UPHENO:0068495", ], "has_phenotype_closure_label": [ "Proximal renal tubular acidosis", - "increased level of carboxylic acid in independent continuant", "abnormal independent continuant amino acid level", + "increased level of carboxylic acid in independent continuant", + "amino acid", + "Abnormal circulating organic compound concentration", "abnormal mitochondrion", - "heteroorganic entity", - "abnormal metabolic process", - "excreta", - "organic oxo compound", "molecular entity", - "abnormal homeostatic process", - "proximo-distal subdivision of respiratory tract", - "abnormal blood glucose level", - "Decreased plasma carnitine", + "heteroorganic entity", "abnormal chemical homeostasis", "abnormal urine organic anion level", - "Abnormal blood glucose concentration", - "organonitrogen compound metabolic process", - "abnormal hematopoietic system", + "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", - "lung fibrosis", + "pair of lungs", + "regulation of biological quality", "abnormal respiratory system", - "increased bodily fluid acid level", - "Bicarbonaturia", - "biological_process", - "increased bodily fluid role level", "viscus", "abnormal respiratory system morphology", "monocarboxylic acid metabolic process", - "pair of lungs", - "regulation of biological quality", + "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", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal lung morphology", + "increased bodily fluid acid level", + "Bicarbonaturia", "oxygen molecular entity", "organooxygen compound", "Abnormality of fluid regulation", - "abnormal independent continuant phosphate level", "Abnormality of the skeletal system", "lung", + "abnormal independent continuant phosphate level", "Hypercalciuria", - "haemolymphatic fluid", - "abnormal role urine level", "s-block element atom", "metal atom", "uric acid", @@ -4651,340 +4649,344 @@ def search(): "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", - "aldose", + "abnormal lipid metabolic process", + "blood", + "Metabolic acidosis", "increased level of glucose in independent continuant", - "abnormal regulation of body fluid levels", - "excretory tube", - "Abnormal pulmonary interstitial morphology", - "Renal tubular acidosis", - "abdomen element", - "respiratory tract", - "organism subdivision", - "increased level of chemical entity", - "organic substance metabolic process", - "Abnormal cellular physiology", - "inorganic cation", - "abnormal urine calcium atom level", - "thoracic segment of trunk", - "increased level of amino acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "inorganic molecular entity", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Proteinuria", + "aldose", "lateral structure", - "abnormal lipid metabolic process", - "endoderm-derived structure", - "trunk region element", - "body proper", - "increased level of glucose in urine", - "purine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "carboxylic acid metabolic process", - "organic aromatic compound", - "Renal tubular dysfunction", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "regulation of body fluid levels", - "abnormal blood chemical entity level", - "abnormal acid bodily fluid level", + "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", - "Decreased anatomical entity mass density", "carbon group molecular entity", + "carbohydrate metabolic process", + "Pulmonary fibrosis", "abnormal independent continuant chemical entity level", + "abnormal skeletal system", + "Abnormal renal physiology", "Weight loss", - "phosphorus oxoacid derivative", - "compound organ", - "kidney epithelium", - "Abnormal blood phosphate concentration", - "skeletal system", + "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", - "abnormality of anatomical entity mass", - "abnormality of respiratory system physiology", + "biological_process", + "increased bodily fluid role level", "Decreased body weight", - "organ", - "occurrent", - "anatomical collection", - "polyatomic entity", - "abnormality of renal system physiology", - "monosaccharide", - "nucleobase-containing small molecule metabolic process", - "mancude organic heterobicyclic parent", + "lipid", + "carbohydrate", + "renal system", + "oxopurine", "respiratory system", "abnormal sodium atom level", "abnormal amino-acid betaine level", - "oxopurine", - "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", - "Abnormality of urine homeostasis", - "organ system subdivision", - "Aminoaciduria", - "abnormal genitourinary system", - "Metabolic acidosis", - "blood", - "hydrides", - "increased level of potassium atom in urine", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "material entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "hematopoietic system", - "purines", - "abnormal purine nucleobase metabolic process", - "Abnormal respiratory system physiology", - "potassium molecular entity", + "organochalcogen compound", "Abnormal homeostasis", "Abnormal muscle physiology", - "organochalcogen compound", "Increased susceptibility to fractures", + "Abnormal respiratory system physiology", + "potassium molecular entity", "homeostatic process", "abnormal carbohydrate metabolic process", "p-block molecular entity", - "phosphorus oxoacids and derivatives", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "Abnormal renal physiology", - "abnormal skeletal system", - "nucleobase", - "increased level of carboxylic acid in urine", - "abnormal musculature", - "organ part", - "Muscle weakness", - "multicellular organismal process", - "abnormal blood phosphate level", - "obsolete cellular aromatic compound metabolic process", - "hemolymphoid system", - "hexose", - "multicellular anatomical structure", - "Pulmonary fibrosis", - "carbohydrate metabolic process", - "abnormal lung morphology", - "alkaline earth metal atom", - "Abnormal skeletal morphology", - "abnormal glucose homeostasis", - "decreased level of phosphate in independent continuant", - "anatomical entity", - "bone element", - "excretory system", - "tube", - "decreased level of phosphate in blood", - "abnormal phosphate level", - "decreased level of chemical entity", - "abnormal anatomical entity", - "abnormal growth", - "All", - "Abnormal bone structure", - "organic cyclic compound", - "Hyperchloremic acidosis", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "abnormal bone element mass density", - "abnormality of anatomical entity physiology", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "Osteomalacia", - "Abnormality of the musculature", - "decreased role independent continuant level", - "ossification", - "abnormal independent continuant calcium atom level", - "Abnormal circulating metabolite concentration", - "increased independent continuant role level", - "entity", - "cavitated compound organ", - "skeletal element", - "Decreased bone element mass density", - "abnormal phenotype by ontology source", - "pnictogen molecular entity", - "subdivision of trunk", "abnormal chemical entity level", "Abnormality of metabolism/homeostasis", + "nephron", "tissue", "continuant", "Abnormal circulating nucleobase concentration", "protein polypeptide chain", - "nephron", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Chronic kidney disease", - "material anatomical entity", - "muscle structure", - "carbohydrate", - "renal system", - "lipid", - "Bicarbonate-wasting renal tubular acidosis", - "organism substance", - "cellular anatomical entity", - "aldohexose", - "subdivision of organism along main body axis", - "phosphoric acid derivative", - "abnormal renal system", - "abnormal independent continuant monoatomic ion level", - "abnormal small molecule metabolic process", - "phosphate", - "abnormal multicellular organism chemical entity level", - "alkali metal cation", - "abnormal role independent continuant level", - "metal cation", - "abnormal independent continuant glucose level", - "process", - "trunk", + "monoatomic ion homeostasis", + "increased independent continuant role level", + "entity", + "subdivision of trunk", + "pnictogen molecular entity", "Abnormality of the urinary system", "Aciduria", - "epithelium", - "abnormality of kidney physiology", - "main group molecular entity", - "heteroatomic molecular entity", - "increased level of calcium atom in independent continuant", - "increased independent continuant acid level", + "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", - "nephron epithelium", - "Abnormality of body weight", - "growth", - "heteropolycyclic compound", - "anatomical entity dysfunction in independent continuant", - "muscle organ", - "dipolar compound", + "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", - "abnormal calcium atom level", - "musculature of body", + "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", - "anatomical conduit", + "abnormal urine calcium atom level", + "abnormality of kidney physiology", + "epithelium", + "respiratory tract", + "organism subdivision", + "organic ion", "phosphorus molecular entity", "anatomical structure", - "organic ion", "Abnormal circulating carbohydrate concentration", "musculature", "calcium atom", "decreased role blood level", - "decreased muscle organ strength", - "bicyclic compound", - "cellular_component", - "abnormal monoatomic ion homeostasis", - "nephron tubule", - "hydrogen molecular entity", - "carbohydrate homeostasis", - "increased level of chemical entity in independent continuant", - "Abnormality of blood and blood-forming tissues", - "upper urinary tract", - "Abnormal respiratory system morphology", + "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", - "decreased anatomical entity mass", - "abdomen", - "Abnormal circulating organic compound concentration", - "increased level of calcium atom in urine", - "abnormal carbohydrate homeostasis", - "Abnormal urine metabolite level", - "primary metabolic process", "glucose homeostasis", - "carbohydrates and carbohydrate derivatives", - "organic acid", - "abnormal metabolite independent continuant level", - "abnormal primary metabolic process", + "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", - "Renal sodium wasting", - "delayed growth", - "decreased level of carnitine in blood", "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", - "Hypophosphatemic rickets", - "Decreased anatomical entity mass", - "inorganic ion homeostasis", "abnormal blood monoatomic ion level", - "Azotemia", "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", - "Hypophosphatemia", - "Renal phosphate wasting", - "Abnormal circulating monocarboxylic acid concentration", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", "phosphate ion homeostasis", - "Abnormal blood ion concentration", - "increased level of chemical entity in blood", - "Abnormal urine phosphate concentration", - "organic hydride", - "Abnormality of urinary uric acid level", - "aromatic compound", - "nitrogen molecular entity", - "polycyclic compound", - "s-block molecular entity", + "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", - "obsolete heterocycle metabolic process", - "small molecule metabolic process", "nucleobase-containing compound metabolic process", - "Abnormal circulating purine concentration", - "Abnormal urine protein level", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "mancude ring", - "elemental potassium", - "cellular process", - "amino-acid betaine", - "increased level of organic acid in urine", - "Hypouricemia", "Decreased circulating purine concentration", "anatomical system", "mitochondrion", "abnormal independent continuant carnitine level", "Hypokalemia", - "Abnormality of the genitourinary system", - "organic heterocyclic compound", - "heterobicyclic compound", + "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 independent continuant uric acid level", - "abnormal blood carnitine level", - "cellular metabolic process", - "obsolete nitrogen compound metabolic process", + "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", @@ -4994,16 +4996,6 @@ def search(): "kidney", "Growth delay", "organic mancude parent", - "heteroarene", - "organic molecular entity", - "abnormal anatomical entity mass density", - "increased level of organic molecular entity in independent continuant", - "organic heteropolycyclic compound", - "organonitrogen heterocyclic compound", - "non-functional kidney", - "heterocyclic organic fundamental parent", - "chemical entity", - "Abnormal circulating carboxylic acid concentration", "Reduced bone mineral density", "abnormal blood nitrogen molecular entity level", "Abnormality of the kidney", @@ -5011,45 +5003,58 @@ def search(): "decreased level of purines", "cation", "purine nucleobase metabolic process", - "amino acid", - "decreased level of uric acid in blood", - "decreased multicellular organism mass", - "abnormal blood uric acid level", - "phenotype by ontology source", - "oxoanion", - "carboxylic acid anion", - "monocarboxylic acid", + "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", - "abnormal cell", - "heterocyclic compound", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "abnormal cellular_component", - "abnormal role blood level", - "organelle", + "quality", + "carboxylic acid", + "abnormal amino acid derivative level", + "phenotype by ontology source", + "oxoanion", + "carboxylic acid anion", + "abnormal cellular_component", "abnormal carboxylic acid metabolic process", - "zwitterion", - "carbonyl compound", - "monocarboxylic acid anion", - "purine-containing compound metabolic process", - "carbon oxoacid", - "obsolete cell", - "Abnormal blood potassium concentration", "Abnormal circulating nitrogen compound concentration", "intracellular membrane-bounded organelle", "oxide", - "polyatomic anion", - "glucose", - "fatty acid anion", "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", - "organic heterobicyclic compound", "Abnormality of bone mineral density", + "organic heterobicyclic compound", "hydrogencarbonate", "oxoacid metabolic process", "abnormal urine sodium atom level", @@ -5059,49 +5064,44 @@ def search(): "intracellular organelle", "membrane-bounded organelle", "anion", - "quality", - "abnormal amino acid derivative level", - "carboxylic acid", - "onium betaine", - "Abnormal urine carboxylic acid level", - "Abnormal circulating fatty-acid concentration", - "Abnormality of acid-base homeostasis", - "urine", - "quaternary nitrogen compound", - "increased level of monosaccharide in independent continuant", - "Hyperchloremic metabolic acidosis", - "amino acid derivative", - "abnormal carnitine metabolic process", "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", - "Abnormal bone ossification", - "abnormal urine potassium atom level", + "monocarboxylic acid", "chalcogen molecular entity", "abnormal potassium atom level", "abnormal independent continuant potassium atom level", "chemical homeostasis", "main body axis", "potassium atom", - "monovalent inorganic cation", - "monoatomic monocation", - "abnormal urine hydrogencarbonate level", - "alkali metal molecular entity", + "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", - "abnormal blood potassium(1+) level", "polypeptide", "decreased level of potassium atom in blood", - "potassium(1+)", - "monoatomic cation", - "Abnormal blood monovalent inorganic cation concentration", "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", @@ -5111,41 +5111,65 @@ def search(): "Pain", "independent continuant", "Abnormal urine pH", - "abnormal independent continuant hydrogencarbonate level", - "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "increased level of hydrogencarbonate in urine", "imidazopyrimidine", "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "abnormal hydrogencarbonate level", "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", - "Hyperuricosuria", - "increased level of amino acid in urine", - "increased level of uric acid in urine", - "peptide", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", + "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", - "abnormal acid independent continuant level", - "organic amino compound", + "peptide", "abnormal urine glucose level", "increased level of monosaccharide in urine", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", + "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", - "abnormal amino acid level", + "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, + "symbol": None, + "synonym": ["hereditary Fanconi renotubular syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, { "id": "MONDO:0013247", "category": "biolink:Disease", @@ -5169,8 +5193,8 @@ def search(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0000117", + "HP:0002749", "HP:0002148", "HP:0000114", "HP:0002757", @@ -5188,8 +5212,8 @@ def search(): "HP:0002150", ], "has_phenotype_label": [ - "Osteomalacia", "Renal phosphate wasting", + "Osteomalacia", "Hypophosphatemia", "Proximal tubulopathy", "Recurrent fractures", @@ -5207,608 +5231,617 @@ def search(): "Hypercalciuria", ], "has_phenotype_closure": [ - "HP:0002150", - "UPHENO:0051678", + "HP:0011280", "UPHENO:0068134", "UPHENO:0046344", - "HP:0011280", + "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:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - "UPHENO:0000541", "UPHENO:0075159", - "HP:0001510", - "UPHENO:0068174", - "UPHENO:0082943", - "HP:0002152", - "PR:000000001", - "CHEBI:33694", - "PR:000064867", - "UPHENO:0051648", - "HP:0004360", - "UPHENO:0068442", "UPHENO:0051936", - "HP:0001948", "HP:0012337", "UPHENO:0077826", + "HP:0001948", + "UPHENO:0068174", + "UPHENO:0051648", "UPHENO:0068971", "CHEBI:33695", - "UPHENO:0068104", + "UPHENO:0051741", + "UPHENO:0082943", + "PR:000064867", + "UPHENO:0068477", + "CHEBI:33694", + "UBERON:0001969", "UPHENO:0082536", "UPHENO:0068472", "UPHENO:0068068", - "UPHENO:0051741", - "UBERON:0001969", - "UPHENO:0068477", - "UPHENO:0081550", + "HP:0002152", + "HP:0004360", + "UPHENO:0068442", "PR:000018263", - "UPHENO:0080658", + "PR:000000001", + "UPHENO:0068104", + "UPHENO:0081550", "HP:0012212", "UBERON:0001977", "UPHENO:0051635", + "UPHENO:0080658", "UPHENO:0068054", - "UPHENO:0052116", "HP:6000531", - "CHEBI:17234", "CHEBI:33917", + "CHEBI:18133", + "CHEBI:17234", "HP:0010876", "CHEBI:35381", - "CHEBI:18133", + "UPHENO:0052116", + "UPHENO:0068247", "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:32988", "UPHENO:0051801", "CHEBI:15841", - "CHEBI:32988", - "CHEBI:16541", - "UPHENO:0068247", "CHEBI:16670", - "UPHENO:0048763", - "UPHENO:0082539", + "PR:000013429", + "HP:0100508", + "UPHENO:0049873", + "UBERON:0034923", + "UPHENO:0051628", + "UPHENO:0068047", + "HP:0000818", "CHEBI:26191", "CHEBI:35350", "CHEBI:22313", "CHEBI:51958", - "UPHENO:0076293", - "UPHENO:0079534", - "CHEBI:37622", - "GO:0006775", - "GO:0008202", - "UBERON:0034923", - "UPHENO:0080351", - "UPHENO:0076286", - "HP:0031415", + "UPHENO:0081547", + "UPHENO:0048763", + "HP:0430071", + "UPHENO:0051680", + "UBERON:0015204", "UPHENO:0050116", - "UPHENO:0051628", - "UPHENO:0068047", - "HP:0000818", - "CHEBI:18059", + "CHEBI:33822", + "CHEBI:33832", + "CHEBI:78616", + "HP:0000077", "UBERON:0001231", - "UBERON:0000064", - "CHEBI:24870", - "UPHENO:0034217", - "UPHENO:0051960", + "UBERON:0011143", "GO:0048878", - "UPHENO:0066739", - "UPHENO:0075902", "UPHENO:0080352", "UBERON:0000179", "CHEBI:27136", "BFO:0000004", - "HP:0012531", - "GO:0050801", - "HP:0000083", - "GO:0032501", - "GO:1901360", - "UPHENO:0050080", - "HP:0002148", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0049618", + "CHEBI:33259", + "UPHENO:0034217", "UPHENO:0051630", "UPHENO:0034253", - "UBERON:0000468", "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:0004364", - "UPHENO:0078628", - "UPHENO:0078589", - "UPHENO:0002442", - "PATO:0000001", - "HP:0000079", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "UPHENO:0004459", - "GO:0098771", - "HP:0011277", - "GO:0071704", - "CHEBI:33675", - "BFO:0000020", - "HP:0430071", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0082542", - "HP:0000119", + "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:51143", "UPHENO:0080638", "UPHENO:0002964", - "UPHENO:0051712", - "UPHENO:0086128", - "CHEBI:33595", - "UPHENO:0049587", - "GO:0008152", - "HP:0003077", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", - "HP:0001871", - "UPHENO:0082835", - "UPHENO:0068040", "UPHENO:0080643", "UBERON:0011216", "UPHENO:0082875", "UBERON:0001474", "UBERON:0002100", - "HP:0000118", - "UBERON:0001434", - "HP:0001939", - "CHEBI:26082", - "CHEBI:17823", - "CHEBI:23367", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0068491", - "CHEBI:36357", - "UPHENO:0077821", + "HP:0003330", + "UBERON:0000467", + "UBERON:0004765", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0082835", + "UPHENO:0068040", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0001871", "UPHENO:0002536", "UPHENO:0076692", "UPHENO:0051186", "CHEBI:36963", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", "CHEBI:33635", "UBERON:0000061", - "CHEBI:33839", - "CHEBI:26079", - "HP:0011849", - "UPHENO:0048707", - "HP:0100529", - "CHEBI:35352", - "UPHENO:0051686", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0084653", - "CHEBI:73558", - "UBERON:8450002", - "UPHENO:0068169", - "HP:0032369", - "CHEBI:33302", - "UBERON:0001062", - "GO:0001503", - "UPHENO:0084654", - "UPHENO:0034351", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "GO:0008152", + "HP:0003077", + "UPHENO:0046284", + "UBERON:0003103", + "UPHENO:0068110", + "UPHENO:0002442", + "PATO:0000001", "UBERON:0002193", - "CHEBI:33241", "HP:0002653", "UPHENO:0076703", - "CHEBI:33259", - "UPHENO:0049618", "UPHENO:0015280", "UPHENO:0081548", + "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", + "CHEBI:33839", + "CHEBI:26079", + "HP:0031415", + "GO:0042592", + "UBERON:0000489", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0001003", "UBERON:0004120", "UPHENO:0068538", - "CHEBI:35341", - "BFO:0000001", - "UPHENO:0003116", - "UPHENO:0051804", + "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:0051937", - "CHEBI:33709", - "CHEBI:35605", - "GO:0042359", - "UPHENO:0082834", - "HP:0033405", - "BFO:0000040", - "HP:0004349", - "UBERON:0001088", - "GO:0044281", - "UPHENO:0082534", - "HP:0002749", - "HP:0004348", - "HP:0000001", - "UBERON:0004111", - "UBERON:0000489", - "UPHENO:0082538", - "GO:0042592", - "CHEBI:36080", - "UBERON:0006314", - "HP:0000114", - "UPHENO:0068495", + "UPHENO:0077821", + "CHEBI:36357", + "UPHENO:0004459", + "GO:0098771", + "CHEBI:26082", + "CHEBI:17823", + "HP:0001939", + "HP:0033127", + "UPHENO:0075696", + "HP:0011842", + "HP:0012599", + "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:0100529", + "CHEBI:35352", + "UPHENO:0051686", + "UPHENO:0001005", + "GO:0044281", + "UBERON:0001088", "CHEBI:33318", "CHEBI:24431", "HP:0003111", - "BFO:0000015", - "UPHENO:0049628", - "CHEBI:33238", - "CHEBI:35788", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "UBERON:0000174", - "HP:0000924", - "UBERON:0013702", - "CHEBI:33304", - "HP:0003330", - "HP:0012599", - "UPHENO:0075696", - "HP:0011842", - "HP:0033127", - "UPHENO:0001003", - "HP:0100530", - "UPHENO:0034391", - "UPHENO:0068049", - "CHEBI:51143", - "UPHENO:0051640", - "UPHENO:0081546", - "UBERON:0000467", - "UBERON:0004765", - "UBERON:0000949", - "UBERON:0000062", - "HP:0003119", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "CHEBI:15693", - "UPHENO:0081544", + "UBERON:0001062", "UPHENO:0051763", "GO:0008150", "UPHENO:0068064", "CHEBI:72695", + "HP:0011849", + "UPHENO:0048707", + "UPHENO:0051847", + "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", "UBERON:0009569", "CHEBI:24651", + "BFO:0000001", + "CHEBI:35341", + "CHEBI:36853", + "UBERON:0004819", "UBERON:0000483", - "UBERON:0000479", - "CHEBI:33832", - "UBERON:0000475", - "HP:0012211", + "UBERON:0004122", + "HP:0010935", "UPHENO:0076285", "UBERON:0015212", + "HP:0012211", + "HP:0033331", + "UBERON:0006555", + "UPHENO:0024906", "UPHENO:0002411", "UPHENO:0051864", - "CHEBI:78616", - "HP:0000077", - "UBERON:0002390", - "HP:0003117", - "HP:0001992", - "UPHENO:0051709", - "UBERON:0010000", - "UPHENO:0066943", + "UBERON:0000916", "UBERON:0004211", "UBERON:0007684", "UBERON:0009773", - "UBERON:0004122", - "HP:0010935", - "HP:0033331", - "UBERON:0006555", "UPHENO:0052038", "UBERON:0005172", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UPHENO:0068533", - "CHEBI:47042", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0011143", - "UPHENO:0024906", - "CHEBI:36853", - "UBERON:0004819", - "HP:0002659", + "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", - "PR:000013429", - "HP:0100508", - "HP:0011843", "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", - "UBERON:0000465", - "CHEBI:33582", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0002642", - "HP:0002909", + "UPHENO:0076289", "HP:0012072", - "UPHENO:0076287", "UPHENO:0046281", + "UPHENO:0076287", "CHEBI:25806", - "UPHENO:0051670", - "HP:0031980", + "CHEBI:36962", "CHEBI:50860", - "CHEBI:22984", - "UBERON:0000463", - "CHEBI:26020", - "HP:0040156", - "CHEBI:36587", - "UPHENO:0068384", - "UBERON:0001008", - "CHEBI:24833", - "HP:0003355", - "CHEBI:33559", - "UPHENO:0051930", + "UPHENO:0079534", "UPHENO:0051900", "UPHENO:0051739", - "CHEBI:36962", - "CHEBI:33285", - "CHEBI:25367", "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:0068058", - "UPHENO:0068313", - "CHEBI:33674", - "UPHENO:0076289", + "UPHENO:0051670", "CHEBI:33575", "CHEBI:50047", - "CHEBI:33521", - "UPHENO:0082541", - "CHEBI:36586", + "UPHENO:0068251", + "GO:0008202", + "UPHENO:0082834", + "GO:0042359", "UPHENO:0068102", "UPHENO:0000543", "HP:0003076", "CHEBI:27300", - "UPHENO:0048711", - "UPHENO:0049873", - "UPHENO:0001001", - "GO:0044238", - "UPHENO:0068251", "GO:0006629", "GO:1901615", "UBERON:0000178", "GO:0006766", - "UPHENO:0051680", - "UBERON:0015204", - "CHEBI:33822", - "UPHENO:0081547", + "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": [ - "Hypercalciuria", "alkaline earth metal atom", - "atom", + "Hypercalciuria", "s-block element atom", "main group element atom", - "Abnormality of urine calcium concentration", "increased level of calcium atom in independent continuant", + "Abnormality of urine calcium concentration", "abnormal calcium atom level", + "atom", "Renal insufficiency", "non-functional kidney", - "Decreased glomerular filtration rate", "Abnormal glomerular filtration rate", + "Decreased glomerular filtration rate", "Pain", "Constitutional symptom", - "growth", - "Growth delay", "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", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "abnormal blood parathyroid hormone level", "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", - "parathyroid hormone", - "blood plasma", - "increased level of calcium atom in urine", - "abnormal blood protein polypeptide chain level", - "Elevated circulating parathyroid hormone level", - "Abnormal circulating nitrogen compound concentration", - "increased level of protein in blood", - "Alkalosis", - "increased level of nitrogen molecular entity in blood", - "Abnormality of acid-base homeostasis", "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", - "abnormal blood serum chemical entity level", - "abnormal acid bodily fluid level", - "increased level of protein", "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", - "increased level of monosaccharide in urine", + "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", - "abnormal urine glucose level", - "abnormal independent continuant carbohydrate level", "monosaccharide", + "peptide", "macromolecule", "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "amide", "increased level of protein polypeptide chain in independent continuant", - "peptide", - "Abnormal metabolism", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "hydroxy seco-steroid", + "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", - "small molecule metabolic process", "abnormal hormone independent continuant level", - "abnormal independent continuant calcium atom level", - "abnormal independent continuant parathyroid hormone level", - "abnormal vitamin metabolic process", - "steroid", - "cyclic compound", "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", - "organism substance", - "primary amide", - "elemental molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "seco-steroid", + "bodily fluid", + "abnormal urine phosphate level", + "abdomen element", "Hypophosphatemia", "monoatomic ion", - "increased blood role level", - "Abnormality of vitamin D metabolism", - "abnormal homeostatic process", - "decreased level of chemical entity in blood", - "phenotype by ontology source", "abnormal blood chemical entity level", "monoatomic entity", "abnormal acid independent continuant level", - "abnormal urine phosphate level", - "abdomen element", - "protein-containing molecular entity", - "Abnormal circulating organic compound concentration", - "increased level of vitamin D", + "decreased level of chemical entity in blood", + "phenotype by ontology source", "abnormal blood plasma chemical entity level", "inorganic ion homeostasis", "Reduced bone mineral density", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "non-functional anatomical entity", - "Osteopenia", - "increased level of monosaccharide in independent continuant", - "D3 vitamins", - "chemical entity", - "polyol", - "increased independent continuant acid level", - "heteroatomic molecular entity", - "main group molecular entity", - "abnormality of kidney physiology", - "abnormal chemical homeostasis", - "abnormal independent continuant lipid level", - "phosphorus molecular entity", - "oxoacid derivative", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal bone element mass density", - "abnormal multicellular organism chemical entity level", - "phosphate", - "non-connected functional system", - "calcitriol", - "subdivision of organism along main body axis", + "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", - "phosphate ion homeostasis", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "lipid", - "material anatomical entity", - "nephron", - "protein polypeptide chain", - "continuant", - "amino acid chain", - "tissue", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "increased level of lipid in independent continuant", + "abnormal size of multicellular organism", + "bone element", "decreased size of the multicellular organism", "Decreased bone element mass density", - "chemical homeostasis", - "skeletal element", - "cavitated compound organ", - "increased level of lipid in blood", - "increased level of parathyroid hormone in blood serum", - "Abnormal circulating protein concentration", - "entity", - "abnormal blood lipid level", - "information biomacromolecule", - "Glycosuria", - "Abnormal bone ossification", - "abdominal segment element", "abnormal anatomical entity mass density", "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "anatomical system", - "All", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal independent continuant monoatomic ion level", - "excretory system", - "abnormal size of multicellular organism", - "bone element", - "anatomical entity", - "multicellular anatomical structure", + "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 musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", + "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", - "Alkalemia", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal protein level", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", + "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", - "organic cyclic compound metabolic process", - "ion", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", "biomacromolecule", "p-block molecular entity", "triol", @@ -5817,98 +5850,88 @@ def search(): "Abnormal homeostasis", "Increased susceptibility to fractures", "organochalcogen compound", - "urine", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "material entity", - "organic amino compound", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "Azotemia", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "process", - "fat-soluble vitamin metabolic process", - "nephron tubule", - "hydrogen molecular entity", - "abnormal role independent continuant level", - "abnormal genitourinary system", - "Aminoaciduria", - "organ system subdivision", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "carbon oxoacid", + "Organic aciduria", + "Abnormal metabolism", "increased level of calcitriol in independent continuant", - "musculoskeletal system", "abnormal upper urinary tract", - "uriniferous tubule", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", + "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", - "Abnormal bone structure", - "organic cyclic compound", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "phosphoric acid derivative", - "abnormality of renal system physiology", - "quality", - "carbon oxoacid", - "multicellular organism", - "hematopoietic system", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Recurrent fractures", - "carbonyl compound", - "polyatomic entity", - "abnormal chemical entity level", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "pnictogen molecular entity", - "occurrent", - "organ", - "delayed biological_process", - "Osteomalacia", - "oxoacid", "carbohydrate", "increased bodily fluid role level", "biological_process", "renal tubule", "Hyperlipidemia", - "abnormal vitamin D level", "genitourinary system", - "skeletal system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "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", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "bodily fluid", - "seco-steroid", "metabolic process", - "Bone pain", - "Abnormality of the upper urinary tract", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", - "kidney epithelium", - "compound organ", - "epithelial tube", - "abdomen", - "abdominal segment of trunk", - "Renal tubular dysfunction", - "abnormal kidney", - "increased bodily fluid base level", - "increased level of glucose in urine", - "body proper", - "trunk region element", - "nephron epithelium", - "lateral structure", - "Proximal tubulopathy", - "organism subdivision", - "tube", - "excretory tube", + "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", @@ -5916,1633 +5939,1610 @@ def search(): "Renal phosphate wasting", "abnormal endocrine system", "kidney", + "tube", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium", "hemolymphoid system", "Rickets", - "increased level of organic acid in independent continuant", - "Abnormal urine phosphate concentration", - "increased level of carboxylic acid in urine", - "increased level of chemical entity in blood plasma", - "s-block molecular entity", - "amino acid", - "molecule", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", - "carboxamide", - "Generalized aminoaciduria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "endocrine system", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "carboxylic acid", "increased level of chemical entity in independent continuant", "Abnormal urine pH", - "carboxylic acid", + "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", - "abnormal vitamin D metabolic process", - "Abnormality of the urinary system physiology", - "hydroxycalciol", "increased independent continuant hormone level", - "increased independent continuant base level", - "Abnormality of the urinary system", - "Aciduria", - "organic molecule", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of organic molecular entity in independent continuant", - "abnormality of multicellular organism height", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "primary metabolic process", - "glandular system", - "organic molecular entity", - "increased level of chemical entity in urine", - "increased level of amino acid in urine", - "increased level of chemical entity in bodily fluid", - "abnormal role urine level", - "organic substance metabolic process", + "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 urine protein level", - "abnormal hormone blood level", - "polycyclic compound", - "carbohydrates and carbohydrate derivatives", - "organic hydroxy compound", - "abnormal small molecule metabolic process", - "abnormal renal system", - "vitamin D", + "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", - "Abnormality of vitamin metabolism", + "material anatomical entity", + "lipid", "abnormal primary metabolic process", "increased level of calcitriol in blood", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "excreta", - "organic oxo compound", - "abnormal metabolic process", - "abnormal lipid level", - "increased level of parathyroid hormone in blood", - "hydroxy steroid", + "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": None, "score": None, }, { - "id": "MONDO:0014275", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", + "name": "Fanconi renotubular syndrome 1", "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": None, + "xref": ["DOID:0080757", "OMIM:134600"], "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", + "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:0001942", - "HP:0001510", - "HP:0003259", + "HP:0003648", + "HP:0001324", + "HP:0002749", + "HP:0002148", + "HP:0000124", "HP:0003109", + "HP:0002900", "HP:0002748", - "HP:0002979", + "HP:0034359", "HP:0003076", - "HP:0000083", - "HP:0004322", + "HP:0003155", "HP:0003355", + "HP:0004322", "HP:0003126", + "HP:0000083", ], "has_phenotype_label": [ "Metabolic acidosis", - "Growth delay", - "Elevated circulating creatinine concentration", + "Lacticaciduria", + "Muscle weakness", + "Osteomalacia", + "Hypophosphatemia", + "Renal tubular dysfunction", "Hyperphosphaturia", + "Hypokalemia", "Rickets", - "Bowing of the legs", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Renal insufficiency", - "Short stature", + "Elevated circulating alkaline phosphatase concentration", "Aminoaciduria", + "Short stature", "Low-molecular-weight proteinuria", + "Renal insufficiency", ], "has_phenotype_closure": [ + "CHEBI:37622", + "UPHENO:0068247", "UPHENO:0068565", - "UPHENO:0051801", - "CHEBI:15841", - "HP:0000093", "CHEBI:16541", - "UPHENO:0068247", + "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:36586", - "UPHENO:0068495", - "CHEBI:50047", - "CHEBI:33575", + "HP:0003355", "CHEBI:24651", + "CHEBI:33575", + "UPHENO:0068495", "UPHENO:0046286", - "UPHENO:0051930", - "HP:0003355", - "CHEBI:36587", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068091", "HP:0031980", - "UPHENO:0051670", - "HP:0012072", - "HP:0032943", "CHEBI:33709", - "UPHENO:0081424", - "UPHENO:0069254", - "UPHENO:0075159", + "CHEBI:50047", + "HP:0004379", + "UPHENO:0081777", "UPHENO:0068971", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0005173", - "UBERON:0000916", - "UPHENO:0075195", - "UPHENO:0086132", - "UBERON:0000489", - "HP:0012211", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011676", - "UPHENO:0075902", - "CHEBI:33674", - "UPHENO:0068058", - "HP:0000077", - "CHEBI:78616", - "UPHENO:0052116", - "CHEBI:17234", - "CHEBI:35381", - "CHEBI:18133", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0041258", - "HP:6000531", - "UPHENO:0068352", - "UPHENO:0079534", - "CHEBI:50860", - "CHEBI:23443", - "CHEBI:24532", - "CHEBI:37622", - "UPHENO:0001001", - "CHEBI:16646", - "CHEBI:38304", - "UPHENO:0068064", - "CHEBI:72695", - "GO:0008150", - "UBERON:0002193", - "CHEBI:33675", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0076740", - "UPHENO:0082467", - "HP:0012100", - "CHEBI:32988", - "UPHENO:0002411", - "HP:0002981", + "CHEBI:33695", + "UPHENO:0082943", + "PR:000064867", "CHEBI:35352", - "UPHENO:0077826", - "CHEBI:38101", - "UPHENO:0081550", - "UPHENO:0041573", - "UPHENO:0076703", - "CHEBI:33661", - "UPHENO:0001002", - "GO:0008152", + "UPHENO:0075666", + "CHEBI:51143", + "CHEBI:33694", + "UPHENO:0046362", + "HP:0012379", + "PR:000018263", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", + "HP:0033354", + "UPHENO:0068054", + "CHEBI:33285", + "CHEBI:50860", "CHEBI:36962", - "UPHENO:0002830", + "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:0068049", - "CHEBI:51143", - "UPHENO:0051640", - "UPHENO:0081546", + "UPHENO:0050080", + "GO:0001503", + "HP:0000118", + "UBERON:0001434", + "UBERON:0002204", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "HP:0004349", + "BFO:0000040", + "UPHENO:0082834", + "UPHENO:0034391", "HP:0004360", - "HP:0430071", - "BFO:0000020", - "UPHENO:0068491", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0051763", - "UPHENO:0041098", - "UPHENO:0078550", - "HP:0004364", - "BFO:0000004", - "UPHENO:0051753", - "UPHENO:0068346", - "UPHENO:0051894", - "UPHENO:0086956", - "CHEBI:36963", - "UPHENO:0068442", - "CHEBI:24995", - "CHEBI:38261", + "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", + "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:0001977", - "UBERON:0000178", - "HP:0000118", - "UPHENO:0068089", + "UBERON:0000383", "UPHENO:0001005", - "CHEBI:33832", - "UBERON:0000468", - "HP:0000002", - "HP:0033354", - "HP:0002157", - "CHEBI:55370", + "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:0081547", - "HP:0012337", - "HP:0032180", - "UPHENO:0082536", - "HP:0001992", - "UBERON:0002390", - "UBERON:0010000", - "UBERON:0010363", - "HP:0001942", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0006487", - "UPHENO:0068538", - "UBERON:0004120", - "HP:0040064", - "UPHENO:0068144", - "UBERON:0010707", - "UPHENO:0002964", - "UBERON:0002101", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "UPHENO:0001002", + "CHEBI:60242", "UPHENO:0086128", "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:24431", - "UPHENO:0000541", - "CHEBI:33285", - "CHEBI:25367", - "UPHENO:0076727", - "UPHENO:0079873", + "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", - "UPHENO:0031193", - "GO:0040007", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082539", - "PR:000050567", - "BFO:0000003", - "HP:0011844", - "UBERON:0004709", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0001001", "CHEBI:24833", "UBERON:0001008", "CHEBI:33839", "CHEBI:26079", - "CHEBI:33670", - "PATO:0000001", - "UPHENO:0002442", - "UBERON:0011249", - "UBERON:0000978", - "HP:0000001", - "CHEBI:16737", - "UPHENO:0076289", - "CHEBI:5686", - "BFO:0000002", - "UBERON:0001062", - "CHEBI:33256", - "CHEBI:33302", - "CHEBI:25693", - "UBERON:0000061", - "BFO:0000015", - "UBERON:0005055", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0081548", - "UPHENO:0015280", + "GO:0042592", + "UPHENO:0082539", "UPHENO:0082538", - "UBERON:0004769", - "UPHENO:0048707", - "HP:0011849", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:36357", - "UPHENO:0077821", - "HP:0003076", - "UPHENO:0000543", - "CHEBI:23367", - "BFO:0000040", - "UPHENO:0082834", - "HP:0004349", - "UBERON:0006314", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", + "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:0049874", - "UBERON:0003823", + "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:0001507", - "CHEBI:37577", - "UBERON:0002417", - "UPHENO:0082129", - "HP:0001939", - "UBERON:0011216", - "UBERON:0001969", - "UBERON:0005172", - "UPHENO:0052038", - "HP:0020129", - "UPHENO:0046348", - "UBERON:0005177", - "UPHENO:0051847", - "CHEBI:36359", - "HP:0003110", - "UBERON:0001088", - "UPHENO:0051686", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0068292", - "UPHENO:0084654", - "CHEBI:26082", - "HP:0010935", - "UBERON:0004122", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0001474", - "HP:0011277", - "HP:0012599", + "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:0084763", - "HP:0000924", - "UBERON:0000174", - "GO:0001503", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0004708", - "UBERON:0001434", - "UBERON:0000062", - "HP:0000083", - "GO:0032501", - "UPHENO:0082835", - "UPHENO:0075696", - "HP:0011842", - "HP:0004348", - "UPHENO:0084653", - "UBERON:0002204", - "UPHENO:0068054", - "UPHENO:0020041", - "HP:0003330", - "UPHENO:0041610", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0068251", - "UBERON:0004288", - "UBERON:0000064", - "HP:0002814", - "RO:0002577", - "UBERON:0034944", - "UPHENO:0002896", - "UPHENO:0080300", - "UPHENO:0004459", - "UBERON:0002428", - "UBERON:0005913", - "UBERON:0004381", - "UPHENO:0080352", - "UBERON:0000179", - "UBERON:0000026", - "HP:0033127", - "UPHENO:0086635", - "UBERON:0000475", - "UPHENO:0041536", - "UBERON:0002529", - "UPHENO:0086780", - "UBERON:0000075", - "UBERON:0010912", - "UBERON:0011582", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0004322", - "UBERON:0015061", - "CHEBI:33917", - "UBERON:0004375", - "UBERON:0002103", - "UBERON:0010538", - "UPHENO:0051630", - "UPHENO:0068190", - "UBERON:0010712", - "CHEBI:35605", - "UPHENO:0041591", - "UBERON:0002091", - "UPHENO:0031310", - "UPHENO:0020584", + "UPHENO:0002816", + "UBERON:0011143", + "HP:0011036", + "CHEBI:78616", + "HP:0000077", "UBERON:0013702", "CHEBI:33304", - "HP:0002813", - "HP:0011314", - "UPHENO:0080658", - "UBERON:0002495", - "HP:0000079", - "UBERON:0002513", - "UPHENO:0084767", - "UPHENO:0086628", - "UPHENO:0076285", - "UBERON:0015212", - "UBERON:0010709", - "UBERON:0006058", - "UPHENO:0041226", - "UPHENO:0075952", - "HP:0040068", - "HP:0002979", + "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:0002471", - "CHEBI:33608", - "HP:0000940", - "GO:0042592", - "UBERON:0034925", - "UPHENO:0068472", - "UBERON:0000154", - "HP:0003259", - "UBERON:0010758", - "UPHENO:0068040", - "UBERON:0008784", - "UPHENO:0077858", - "UPHENO:0003070", - "UBERON:0010740", - ], - "has_phenotype_closure_label": [ - "macromolecule", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "increased level of protein polypeptide chain in independent continuant", - "Abnormal urine protein level", - "peptide", - "increased level of carboxylic acid in independent continuant", - "organic amino compound", - "carboxylic acid", - "increased level of amino acid in urine", - "hydroxides", - "carbon oxoacid", - "carbonyl compound", - "abnormal independent continuant amino acid level", - "Abnormal urine pH", - "increased independent continuant base level", - "abnormal urine amino acid level", - "hydrogen molecular entity", - "increased level of organic acid in urine", - "amino acid", - "increased level of amino acid in independent continuant", - "increased level of organic acid in independent continuant", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Short stature", - "Abnormality of body height", - "decreased size of the anatomical entity in the independent continuant", - "decreased height of the multicellular organism", - "kidney", - "cavitated compound organ", - "abdomen element", - "Abnormality of the kidney", + "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", - "trunk region element", - "abnormal kidney", - "abdominal segment of trunk", - "trunk", - "abdomen", - "Abnormality of the upper urinary tract", "non-functional kidney", "non-functional anatomical entity", - "main body axis", - "subdivision of organism along main body axis", + "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 urine metabolite level", - "body proper", - "increased level of glucose in urine", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "abnormal role urine level", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", - "glucose", - "aldose", - "hexose", - "abnormal urine glucose level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormal phosphate level", - "abnormality of kidney physiology", - "main group molecular entity", - "increased level of creatinine in independent continuant", - "primary amide", - "abnormal blood nitrogen molecular entity level", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "organonitrogen heterocyclic compound", - "abnormal shape of continuant", - "molecule", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", + "abnormal independent continuant glucose level", + "increased level of monosaccharide in urine", + "organic molecular entity", "oxygen molecular entity", - "anatomical system", - "abnormal independent continuant carbohydrate level", - "organic molecule", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "organooxygen compound", - "upper urinary tract", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "blood plasma", + "increased level of organic molecular entity in independent continuant", + "Abnormal urine metabolite level", + "Hypophosphatemia", + "monoatomic ion", "decreased size of the anatomical entity", "blood", - "abdominal segment element", - "Glycosuria", - "Abnormal bone ossification", - "hindlimb", - "organic molecular entity", - "heteromonocyclic compound", - "haemolymphatic fluid", - "multicellular organism", - "hematopoietic system", - "increased level of nitrogen molecular entity in blood", - "abnormal blood chemical entity level", - "imidazolidines", - "increased level of chemical entity in blood serum", - "urine", - "increased level of creatinine in blood serum", - "excretory system", - "imidazolidinone", - "Abnormal circulating creatinine concentration", - "increased level of chemical entity", - "heteroorganic entity", - "abnormal role blood serum level", - "phosphorus molecular entity", - "Azotemia", - "cyclic amide", - "paired limb/fin segment", + "inorganic ion", "pnictogen molecular entity", - "abnormal blood serum chemical entity level", - "curved long bone", - "phenotype by ontology source", - "growth", - "monocyclic compound", - "Abnormal bone structure", - "organic cyclic compound", - "phenotype", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "long bone", - "increased independent continuant acid level", - "chemical entity", - "material anatomical entity", - "Metabolic acidosis", - "Abnormal renal physiology", - "chalcogen molecular entity", - "s-block molecular entity", - "increased level of chemical entity in blood plasma", - "Elevated circulating creatinine concentration", - "abnormal independent continuant creatinine level", - "molecular entity", - "Abnormality of blood and blood-forming tissues", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "inorganic ion homeostasis", + "Reduced bone mineral density", "organism substance", - "increased level of chemical entity in blood", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "abnormal role independent continuant level", - "process", - "abnormal blood plasma chemical entity level", - "multi-limb segment region", - "bodily fluid", - "abnormal urine phosphate level", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "independent continuant", - "abnormal growth", - "genitourinary system", - "abnormal blood creatinine level", - "abnormal acid independent continuant level", - "organic heteromonocyclic compound", - "oxoacid", - "delayed biological_process", - "limb skeleton subdivision", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "carbon group molecular entity", - "increased blood serum role level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "phosphorus oxoacid derivative", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "anatomical structure", + "primary amide", + "elemental molecular entity", + "decreased level of chemical entity in blood", + "phenotype by ontology source", "polypeptide", - "abnormal limb", "Abnormality of bone mineral density", - "Bowing of the long bones", - "Acidosis", - "material entity", - "Phenotypic abnormality", - "Hyperphosphaturia", - "Abnormal circulating organic compound concentration", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", - "delayed growth", + "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", - "posterior region of body", + "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", - "blood serum", "increased level of chemical entity in independent continuant", - "metabolic process", + "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", - "Elevated urinary carboxylic acid", - "skeleton", - "anatomical entity", - "carboxamide", - "endochondral element", + "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", - "appendicular skeleton", + "abnormal anatomical entity", + "Metabolic acidosis", + "decreased level of potassium atom in blood", "Abnormality of acid-base homeostasis", - "Abnormal homeostasis", - "organochalcogen compound", - "homeostatic process", - "abnormal hindlimb zeugopod morphology", - "appendage girdle complex", - "organic heterocyclic compound", - "organic acid", - "Abnormal circulating metabolite concentration", - "ossification", - "abnormal hindlimb zeugopod", - "organism subdivision", - "protein polypeptide chain", - "continuant", - "cyclic compound", - "appendage", - "organonitrogen compound", - "polyatomic entity", + "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", - "lactam", - "increased independent continuant role level", - "creatinine", - "subdivision of skeletal system", - "entity", + "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", - "Growth abnormality", - "increased blood role level", - "leg", - "Abnormality of the skeletal system", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "abnormal leg", - "All", - "anatomical collection", - "Growth delay", - "diaphysis", - "renal system", - "abnormal urine chemical entity level", - "Abnormality of the urinary system physiology", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "zone of bone organ", - "abnormality of anatomical entity physiology", - "compound organ", + "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", - "quality", - "abnormality of renal system physiology", - "phosphoric acid derivative", - "abnormal renal system", - "hindlimb zeugopod", - "Abnormal long bone morphology", - "increased level of phosphate in urine", + "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", - "Aciduria", - "Abnormality of the urinary system", - "abnormal genitourinary system", - "abnormal hindlimb morphology", + "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", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "increased level of phosphate in independent continuant", - "abnormal skeletal system", - "Abnormal skeletal morphology", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", + "alkali metal cation", + "musculature", + "decreased role blood level", "hemolymphoid system", "Rickets", - "abnormal independent continuant glucose level", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal hindlimb zeugopod, curved", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal anatomical entity mass density", - "heterocyclic compound", - "skeletal system", - "multicellular organismal process", - "organ part", - "abnormal size of multicellular organism", - "bone element", - "Decreased anatomical entity mass density", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "diazolidine", - "Reduced bone mineral density", - "Abnormality of the lower limb", - "curved anatomical entity in independent continuant", - "abnormal appendicular skeleton morphology", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity morphology in the independent continuant", - "increased level of protein polypeptide chain in urine", - "limb segment", - "abnormal anatomical entity, curved", - "curved anatomical entity", - "abnormal long bone morphology", - "aldohexose", - "zone of organ", - "shape anatomical entity in independent continuant", - "limb", - "pelvic appendage", - "zone of long bone", - "Abnormality of the calf", - "paired limb/fin", - "subdivision of organism along appendicular axis", - "heteroatomic molecular entity", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "abnormal limb bone morphology", - "lateral structure", - "curved hindlimb zeugopod", - "system", + "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", - "Abnormal appendicular skeleton morphology", - "amide", - "Abnormality of limb bone", - "Organic aciduria", - "Abnormal diaphysis morphology", - "subdivision of skeleton", - "endochondral bone", - "pelvic complex", - "abnormal chemical entity level", - "appendicular skeletal system", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lower limb segment", - "skeletal element", - "zeugopod", - "nitrogen molecular entity", - "abnormal limb morphology", - "abnormal diaphysis morphology", - "increased bodily fluid role level", - "biological_process", - "carbohydrate", + "hexose", + "organooxygen compound", + "heteroorganic entity", + "body proper", + "increased level of glucose in urine", ], - "has_phenotype_count": 11, - "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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, + "has_phenotype_count": 16, "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", "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:0002749", "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0003155", - "HP:0002148", - "HP:0000124", + "HP:0001510", + "HP:0003259", "HP:0003109", - "HP:0002900", "HP:0002748", - "HP:0034359", + "HP:0002979", "HP:0003076", - "HP:0003355", + "HP:0000083", "HP:0004322", + "HP:0003355", "HP:0003126", - "HP:0000083", ], "has_phenotype_label": [ - "Osteomalacia", "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", - "Hypophosphatemia", - "Renal tubular dysfunction", + "Growth delay", + "Elevated circulating creatinine concentration", "Hyperphosphaturia", - 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"HP:0000077", - "HP:0001992", - "UBERON:0010000", - "UPHENO:0051709", - "UBERON:0002390", - "UPHENO:0066943", - "UPHENO:0049709", - "HP:0004322", - "CHEBI:26216", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0004122", - "HP:0010935", - "UBERON:0005172", + "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", - "HP:0002748", - "UPHENO:0002832", "UPHENO:0002803", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UPHENO:0002816", - "UBERON:0011143", - "UBERON:0004819", - "HP:0012599", - "CHEBI:33296", - "PR:000000001", - "UPHENO:0034199", - "UPHENO:0051898", - "UPHENO:0081547", - "CHEBI:25414", - "UPHENO:0068058", - "CHEBI:33674", - "UPHENO:0051930", - "CHEBI:33559", - "CHEBI:25213", - "CHEBI:26217", - "UPHENO:0051645", - "HP:0010929", - "UPHENO:0051958", - "UPHENO:0052116", - "CHEBI:24835", - "CHEBI:36586", - "CHEBI:33521", - "CHEBI:36914", - "UPHENO:0034438", - "UBERON:0006555", - "GO:0055080", - "UBERON:0000061", - "CHEBI:36916", - "UPHENO:0079822", - "HP:0003648", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:29103", + "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": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "carboxamide", - "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", + "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", - "peptide", - "growth", - "Growth delay", - "Abnormality of body height", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "increased level of carboxylic acid in independent continuant", "carboxylic acid", - "molecule", - "increased level of amino acid in urine", - "hydroxides", - "organic molecule", - "carbonyl compound", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "Organic aciduria", - "abnormal urine amino acid level", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", + "abnormal independent continuant amino acid level", + "increased level of carboxylic acid in independent continuant", "amino acid", - "Elevated urinary carboxylic 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 urine metabolite level", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "oxygen molecular entity", - "organooxygen compound", + "abnormal role urine level", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "aldohexose", - "increased level of organic molecular entity in independent continuant", + "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", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", - "monosaccharide", - "abnormal renal system process", - "renal absorption", - "abnormal renal absorption", - "abnormal independent continuant amino acid level", - "renal system process", + "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", - "protein-containing molecular entity", - "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", - "pnictogen molecular entity", - "abnormality of muscle organ physiology", - "increased level of protein", - "increased level of glucose in urine", - "body proper", - "decreased muscle organ strength", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abdominal segment of trunk", - "musculature of body", - "monoatomic cation", - "Abnormality of the upper urinary tract", - "chemical substance", - "abnormal independent continuant potassium atom level", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "increased level of rac-lactic acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "organic oxo compound", - "excreta", - "abnormal acid bodily fluid level", - "monoatomic monocation", - "Abnormality of the urinary system", "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "increased level of rac-lactic acid in independent continuant", - "skeletal element", - "cavitated compound organ", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "chemical entity", - "increased independent continuant acid level", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", + "Abnormality of the urinary system", + "oxygen molecular entity", + "increased level of creatinine in blood", "increased bodily fluid acid level", - "abnormal blood monoatomic ion level", - "decreased level of potassium atom in blood", - "Metabolic acidosis", - "homeostatic process", - "protein", - "phenotype by ontology source", - "decreased level of chemical entity in blood", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "Phenotypic abnormality", - "Hyperphosphaturia", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "Abnormal bone structure", - "anatomical system", - "potassium(1+)", - "All", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", "decreased height of the anatomical entity", "abnormal metabolite independent continuant level", - "abnormal size of multicellular organism", - "bone element", - "Abnormal renal tubular resorption", - "anatomical entity", - "multicellular anatomical structure", - "heteroorganic entity", - "abnormal bone element mass density", - "decreased role independent continuant level", - "Muscle weakness", - "organ part", - "abnormal musculature", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system", - "process", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "genitourinary system", - "atom", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "carbon group molecular entity", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "Abnormal circulating enzyme concentration or activity", - "organism subdivision", + "increased level of chemical entity in blood serum", "urine", - "material entity", - "organic amino compound", - "Acidosis", + "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", - "inorganic cation", - "Glycosuria", - "information biomacromolecule", - "abdominal segment element", - "Abnormal bone ossification", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "blood plasma", "decreased size of the anatomical entity", "blood", - "racemate", - "phosphate ion homeostasis", - "inorganic ion", - "abnormal genitourinary system", - "Aminoaciduria", - "organ system subdivision", - "primary amide", - "elemental molecular entity", - "nitrogen molecular entity", - "renal system", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "Abnormality of the genitourinary system", - "Reduced bone mineral density", - "inorganic ion homeostasis", - "Impaired renal tubular reabsorption of phosphate", - "multicellular organism", - "hematopoietic system", - "abnormal monoatomic cation homeostasis", - "alkaline phosphatase, tissue-nonspecific isozyme", - "nephron epithelium", - "polyatomic entity", - "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", - "organochalcogen compound", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", + "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", - "biomacromolecule", - "Abnormality of urine homeostasis", - "upper urinary tract", - "occurrent", - "organ", - "skeletal system", - "Abnormality of the urinary system physiology", - "abnormal blood chemical entity level", - "macromolecule", - "material anatomical entity", - "muscle structure", - "metabolic process", - "bodily fluid", - "abnormal urine phosphate level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", + "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", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "main group molecular entity", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "chemical homeostasis", "abnormal independent continuant carboxylic acid level", "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal chemical homeostasis", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "haemolymphatic fluid", - "ion", - "abnormal homeostatic process", - "multicellular organismal process", - "abnormal blood phosphate level", - "Hypophosphatemia", - "monoatomic ion", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "trunk", - "phosphorus molecular entity", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", + "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", - "ossification", "Abnormal circulating metabolite concentration", - "main body axis", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "kidney epithelium", - "compound organ", - "abdomen", - "Renal tubular dysfunction", - "abnormal kidney", - "trunk region element", - "Abnormality of the kidney", - "lateral structure", - "chalcogen molecular entity", + "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", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "excretory tube", - "kidney", + "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", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "musculature", - "decreased role blood level", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "s-block molecular entity", - "s-block element atom", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium(1+) level", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "elemental potassium", - "Hypokalemia", - "Abnormal blood monovalent inorganic cation concentration", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", + "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", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "decreased level of chemical entity", - "abnormal phosphate level", - "system process", + "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": 16, + "has_phenotype_count": 11, "highlight": None, "score": None, }, @@ -7570,13 +7570,13 @@ def search(): "has_phenotype": [ "HP:0002857", "HP:0045051", - "HP:0002097", "HP:0002148", "HP:0002206", "HP:0004912", "HP:0004918", "HP:0000093", "HP:0003076", + "HP:0002097", "HP:0003355", "HP:0005576", "HP:0003774", @@ -7586,13 +7586,13 @@ def search(): "has_phenotype_label": [ "Genu valgum", "Decreased DLCO", - "Emphysema", "Hypophosphatemia", "Pulmonary fibrosis", "Hypophosphatemic rickets", "Hyperchloremic metabolic acidosis", "Proteinuria", "Glycosuria", + "Emphysema", "Aminoaciduria", "Tubulointerstitial fibrosis", "Stage 5 chronic kidney disease", @@ -7601,292 +7601,295 @@ def search(): ], "has_phenotype_closure": [ "HP:0100526", - "HP:0011793", "HP:0002664", - "UBERON:0000477", + "HP:0011793", + "UBERON:0000055", "UBERON:0034923", "HP:0002597", - "UPHENO:0002678", "UBERON:0002049", "UBERON:0001009", - "UBERON:0000055", - "HP:0001626", - "HP:0000822", + "UPHENO:0002678", "UBERON:0004535", "UBERON:0001981", + "UBERON:0000477", + "HP:0000822", "HP:0030972", - "HP:0012622", + "HP:0001626", "UPHENO:0086132", "HP:0003774", "HP:0012211", - "UPHENO:0076779", - "UBERON:0004819", + "HP:0012622", + "UBERON:0000479", "HP:0012210", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0076714", - "UBERON:0005173", - "UBERON:0000916", "UBERON:0005172", - "UBERON:0000489", "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", + "UBERON:0000916", "HP:0000091", - "UBERON:0000479", + "UBERON:0000489", + "UBERON:0005173", + "UPHENO:0076779", + "UPHENO:0076714", + "UBERON:0004819", "HP:0030760", - "UPHENO:0075902", "UBERON:0001231", - "UPHENO:0068169", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075902", + "UPHENO:0051670", "CHEBI:36586", - "UPHENO:0068495", - "CHEBI:33575", - "UPHENO:0076756", - "CHEBI:25367", - "CHEBI:24651", - "UBERON:0004537", - "UPHENO:0046286", - "UPHENO:0051930", - "UPHENO:0051739", "CHEBI:36587", - "HP:0031980", - "UPHENO:0051670", + "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", - "CHEBI:33674", - "UPHENO:0068058", + "UPHENO:0076756", + "CHEBI:25367", + "HP:0002097", "HP:0000077", "CHEBI:78616", "UPHENO:0051635", - "UPHENO:0052116", "HP:6000531", + "CHEBI:18133", + "CHEBI:33674", + "UPHENO:0068058", "CHEBI:17234", "CHEBI:35381", "CHEBI:16646", - "CHEBI:18133", - "UPHENO:0002442", - "UPHENO:0068565", + "UPHENO:0052116", "CHEBI:37622", "CHEBI:50047", - "CHEBI:15841", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0068247", + "UBERON:0001088", + "UPHENO:0002442", + "UPHENO:0068565", "HP:0011277", + "HP:0033354", + "CHEBI:16541", "HP:0010935", "UBERON:0004122", "UBERON:8450002", - "HP:0033354", + "UPHENO:0068538", "CHEBI:33285", "CHEBI:32988", "CHEBI:35352", + "UPHENO:0051686", + "CHEBI:50860", "HP:0032581", "CHEBI:36962", "CHEBI:51143", - "UPHENO:0051686", - "CHEBI:16541", - "UBERON:0001088", - "CHEBI:50860", - "UPHENO:0068247", - "CHEBI:15693", - "UPHENO:0081544", + "CHEBI:15841", "HP:0000119", "UPHENO:0082542", - "CHEBI:16670", "CHEBI:24833", "UBERON:0001008", - "UPHENO:0068538", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0082539", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0082467", - "UBERON:0011676", - "UBERON:0000072", - "UBERON:0010740", + "CHEBI:16670", "UPHENO:0068040", "UBERON:0008784", - "UBERON:0004288", - "UBERON:0010758", + "UPHENO:0068089", + "UBERON:0000170", + "HP:0006487", + "UPHENO:0004536", + "UBERON:0000062", + "UPHENO:0041610", + "UBERON:0010912", + "UBERON:0011582", + "UBERON:0000075", "UBERON:0000061", - "UPHENO:0041098", - "UPHENO:0002830", - "UBERON:0011249", - "UPHENO:0001003", - "UPHENO:0002642", - "HP:0100491", - "UPHENO:0081548", - "UPHENO:0015280", - "HP:0003110", - "CHEBI:36359", - "UBERON:0000174", - "HP:0000924", - "UPHENO:0041226", - "UBERON:0010363", - "UBERON:0010709", "UPHENO:0068054", "UPHENO:0020041", "UPHENO:0075945", "UPHENO:0084767", - "UPHENO:0031310", - "UPHENO:0020584", + "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", - "UPHENO:0002964", - "UBERON:0002101", - "UPHENO:0068144", - "UBERON:0010707", "UBERON:0004120", "HP:0040064", + "UPHENO:0068144", + "UBERON:0010707", "HP:0011025", "HP:0001969", "UBERON:0005055", "BFO:0000015", - "UPHENO:0086628", - "UBERON:0002529", "UPHENO:0041536", - "UPHENO:0076727", - "BFO:0000020", - "UPHENO:0068491", - "CHEBI:36360", - "HP:0100606", - "UPHENO:0084763", - "UPHENO:0001005", - "UBERON:0005913", - "UPHENO:0041610", - "UBERON:0000062", - "HP:0012575", - "UPHENO:0081550", + "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:0000001", - "UBERON:0004111", - "UBERON:0006058", - "HP:0033127", - "UPHENO:0086635", - "BFO:0000004", - "UBERON:0000026", - "UBERON:0000179", - "UBERON:0004381", - "UBERON:0011582", - "UBERON:0010912", - "UPHENO:0001002", "HP:0034669", "HP:0020129", "UPHENO:0046348", "HP:0006530", - "BFO:0000002", + "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", - "UPHENO:0086956", - "UPHENO:0002885", - "UPHENO:0076692", - "UPHENO:0002536", + "UBERON:0000174", + "HP:0000924", + "UBERON:0010709", "UBERON:0000154", + "UPHENO:0086628", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0004288", + "HP:0012575", + "UPHENO:0081550", "UPHENO:0076703", - "HP:0002814", - "UPHENO:0051801", - "UBERON:0001465", - "UPHENO:0076767", - "UBERON:0034944", - "UPHENO:0080300", - "UPHENO:0002896", - "HP:0012252", - "HP:0000118", - "UPHENO:0031193", - "UBERON:0000178", + "UPHENO:0003070", + "CHEBI:25806", + "UPHENO:0082449", + "HP:0000079", + "UBERON:0002513", "UBERON:0001062", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0005178", - "UBERON:0011216", - "UBERON:0004770", - "UBERON:0002417", - "UPHENO:0082129", - "CHEBI:37577", + "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", - "BFO:0000001", - "UBERON:0001434", - "UPHENO:0076299", - "UBERON:0004708", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "HP:0040068", - "UPHENO:0075952", - "UPHENO:0002411", - "HP:0002981", - "UBERON:0006555", - "UPHENO:0086780", - "UBERON:0010538", - "HP:0003076", - "UBERON:0013522", - "HP:0006487", - "UPHENO:0004536", + "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", - "UBERON:0010712", - "UPHENO:0034253", "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", - "HP:0000079", - "UBERON:0002513", - "UBERON:0000075", - "UPHENO:0003070", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0011314", - "UBERON:0015061", - "UPHENO:0077858", - "CHEBI:35605", - "UBERON:0002091", - "UPHENO:0041591", - "UPHENO:0002406", - "BFO:0000040", - "UPHENO:0082834", - "HP:0004349", - "HP:0002815", - "CHEBI:33917", - "UBERON:0004375", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UBERON:0002103", - "UBERON:0015212", - "UPHENO:0041258", - "UBERON:0005177", - "UPHENO:0051847", - "CHEBI:33582", - "UBERON:0000465", - "UBERON:0004769", - "UPHENO:0082538", + "UPHENO:0002448", "UBERON:0001004", + "HP:0045051", + "HP:0002086", + "GO:0001503", + "GO:0008150", + "UPHENO:0041573", + "HP:0030878", "UPHENO:0087427", "UPHENO:0078554", "UPHENO:0002332", "CHEBI:33259", - "UPHENO:0041573", - "HP:0030878", "HP:0045049", "UBERON:0000978", "HP:0100529", @@ -7895,60 +7898,26 @@ def search(): "UPHENO:0082875", "CHEBI:36963", "UPHENO:0051186", - "HP:0002086", - "GO:0001503", - "HP:0045051", - "GO:0008150", - "UPHENO:0002448", - "UBERON:0000475", - "UPHENO:0087433", - "UBERON:0001558", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "HP:0002097", - "UPHENO:0068110", - "UBERON:0003103", - "CHEBI:33256", - "UBERON:0000025", - "CHEBI:24867", - "HP:0005576", - "UBERON:0001005", - "PATO:0000001", - "UBERON:0004905", - "HP:0002088", - "UPHENO:0020748", - "UBERON:0005181", - "UBERON:0002075", - "HP:0003355", - "UPHENO:0019970", + "UPHENO:0050080", + "HP:0002148", "UBERON:0007798", "CHEBI:33304", "HP:0002813", "UBERON:0013702", - "HP:0002148", - "UBERON:0002048", - "UBERON:0000171", - "UBERON:0004119", - "CHEBI:33302", - "UBERON:0034925", - "HP:0002795", - "GO:0042592", - "UPHENO:0087993", - "GO:0008152", + "HP:0003355", + "UPHENO:0019970", "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "UBERON:0003657", - "CHEBI:23367", - "HP:0032263", - "UPHENO:0046284", - "UBERON:0000915", - "UPHENO:0034391", - "HP:0004360", - "UPHENO:0050080", + "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", @@ -7959,178 +7928,211 @@ def search(): "GO:0032501", "UBERON:0003823", "HP:0001995", - "UBERON:0000065", - "HP:0032180", + "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", - "UPHENO:0049904", - "UPHENO:0066739", - "GO:0048878", + "UBERON:0000982", + "UPHENO:0034217", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:33675", + "UBERON:0002193", "UPHENO:0051763", "UPHENO:0080362", "UPHENO:0051937", - "HP:0004912", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051960", - "UPHENO:0034351", - "UPHENO:0084654", "HP:0001939", - "CHEBI:33241", - "UPHENO:0049628", - "CHEBI:33238", + "HP:0003111", + "CHEBI:24431", + "UPHENO:0049904", + "UPHENO:0066739", + "CHEBI:33839", + "CHEBI:26079", + "GO:0048878", "HP:0040156", "HP:0002857", "UBERON:0000463", "CHEBI:26020", - "UBERON:0006314", - "CHEBI:33839", - "CHEBI:26079", - "UBERON:0000982", - "UPHENO:0034217", - "HP:0003111", - "CHEBI:24431", - "UPHENO:0079873", - "HP:0002206", + "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:0003330", "HP:0004918", - "UPHENO:0081547", - "HP:0012337", - "UBERON:0000170", - "UPHENO:0068089", "UPHENO:0076289", - "CHEBI:72695", - "UPHENO:0068064", "UBERON:0000483", - "UBERON:0002471", "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", - "disconnected anatomical group", - "abnormal cardiovascular system", - "Hypertension", "Abnormal systemic blood pressure", - "abnormal vasculature", - "Chronic kidney disease", + "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", - "abdomen element", "tissue", "anatomical cluster", "abnormal kidney epithelium morphology", - "Abnormality of the kidney", - "renal tubule", - "uriniferous tubule", - "nephron epithelium", - "Abnormal renal insterstitial morphology", - "abnormal kidney", - "abdominal segment of trunk", - "abdomen", "Abnormality of the upper urinary tract", "Abnormal nephron morphology", - "Increased blood pressure", - "Tubulointerstitial fibrosis", - "increased level of carboxylic acid in independent continuant", "carboxylic acid", - "molecule", - "increased level of amino acid in urine", - "hydroxides", - "organic molecule", + "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 independent continuant amino acid level", - "abnormal amino acid level", + "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", - "abnormal nephron tubule morphology", - "increased level of organic acid in urine", - "increased level of carboxylic acid in urine", - "amino acid", - "s-block molecular entity", - "oxoacid", - "increased level of organic acid in independent continuant", + "increased level of amino acid in urine", + "abnormal amino acid level", + "Emphysema", "increased level of glucose in independent continuant", - "abnormal metabolite independent continuant level", - "carbohydrates and carbohydrate derivatives", + "abnormal independent continuant carbohydrate level", + "Abnormal urinary organic compound level", "Lung adenocarcinoma", "increased level of monosaccharide in urine", - "Abnormal urinary organic compound level", + "abnormal metabolite independent continuant level", + "abnormal urine glucose level", "glucose", "aldose", "hexose", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", "monosaccharide", - "Abnormal urine metabolite level", + "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", - "carboxamide", - "organic amino compound", "macromolecule", "abnormal genitourinary system", - "abnormal independent continuant protein polypeptide chain level", - "Aciduria", - "Abnormality of the urinary system", + "organic molecular entity", "oxygen molecular entity", + "organic oxo compound", + "excreta", + "increased independent continuant base level", "abnormal independent continuant nitrogen molecular entity level", - "abnormal renal system", - "heteroorganic entity", - "organooxygen compound", - "abnormal role urine level", - "vascular system", - "increased level of chemical entity in urine", "increased level of protein polypeptide chain in independent continuant", "upper urinary tract", "Abnormal tubulointerstitial morphology", "Abnormality of urine homeostasis", - "organic molecular entity", - "urine", - "Abnormality of the urinary system physiology", - "Abnormal urine protein level", - "organic oxo compound", - "excreta", - "increased independent continuant base level", - "renal system", "genitourinary system", - "abnormal shape of continuant", + "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", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "zone of bone organ", - "appendicular skeleton", - "pelvic complex", - "curvature anatomical entity in independent continuant", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "nephron", - "curved long bone", - "occurrent", - "organ", - "Stage 5 chronic kidney disease", - "mesoderm-derived structure", - "zone of long bone", - "Hyperchloremic metabolic acidosis", - "Emphysema", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", "skeletal system", "blood", "long bone", @@ -8138,122 +8140,153 @@ def search(): "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", - "Abnormal respiratory system physiology", - "homeostatic process", - "organochalcogen compound", - "Abnormal homeostasis", - "lower limb segment", - "abnormal skeletal joint morphology", + "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 by ontology source", - "amide", - "Abnormality of limb bone", - "anatomical entity", - "material entity", - "Abnormal appendicular skeleton morphology", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", + "phenotype", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", "Proteinuria", - "abnormal skeletal system morphology", "protein-containing material entity", - "hindlimb", - "epithelium", - "system", - "subdivision of tube", - "abnormal anatomical 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", - "limb segment", "Abnormal joint morphology", - "increased level of amino acid in independent continuant", - "thoracic segment of trunk", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "Non-small cell lung carcinoma", - "skeletal joint", - "abnormal limb bone morphology", - "aldohexose", - "zone of organ", - "abnormal long bone morphology", - "organonitrogen compound", - "appendage", - "tube", - "Abnormality of acid-base homeostasis", + "limb segment", "organ part", "abnormal blood phosphate level", "multicellular organismal process", - "limb skeleton subdivision", - "paired limb/fin segment", - "Abnormality of the knee", - "abnormal lung morphology", - "subdivision of organism along appendicular axis", - "abnormal skeletal system", - "Abnormality of the lower limb", "curved anatomical entity in independent continuant", + "Abnormality of the lower limb", "abnormal appendicular skeleton morphology", "abnormal phenotype by ontology source", "subdivision of trunk", - "abnormal renal system morphology", - "abnormal hindlimb joint", - "All", - "anatomical collection", - "vessel", - "diaphysis", - "abnormal leg", - "non-functional anatomical entity", - "thoracic segment organ", - "subdivision of skeleton", - "endochondral bone", - "articular system", - "Hypophosphatemia", - "leg", - "monoatomic ion", - "chemical homeostasis", - "Genu valgum", - "limb joint", - "limb bone", - "shape anatomical entity in independent continuant", - "phenotype", "abnormal upper urinary tract", - "curvature anatomical entity", "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", - "abnormal knee morphology", - "Abnormal respiratory system morphology", - "shape anatomical entity", "skeleton of limb", "Abnormal pulmonary interstitial morphology", - "vasculature", - "Abnormal long bone morphology", - "hindlimb zeugopod", - "Abnormal urine carboxylic acid level", - "decreased level of chemical entity", - "abnormal phosphate level", + "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", - "curved hindlimb zeugopod", - "kidney", - "articulation", - "blood vessel", - "multi-limb segment region", "abnormal diaphysis morphology", "lateral structure", - "anatomical structure", - "Bowing of the long bones", - "anatomical conduit", - "polypeptide", - "abnormal limb", - "Abnormality of bone mineral density", - "endochondral element", - "hindlimb joint", - "trunk", - "oxoacid derivative", - "Abnormality of the calf", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal knee morphology", "Hyperchloremic acidosis", "Abnormal bone structure", "Abnormal renal physiology", @@ -8262,161 +8295,128 @@ def search(): "abnormal anatomical entity mass density", "decreased level of chemical entity in blood", "shape hindlimb zeugopod", - "Phenotypic abnormality", - "Elevated urinary carboxylic acid", - "skeleton", - "Neoplasm by anatomical site", - "p-block molecular entity", - "abnormality of cardiovascular system physiology", - "limb", - "curved anatomical entity", - "paired limb/fin", - "bone element", - "Renal fibrosis", - "abnormal hindlimb morphology", + "abnormal anatomical entity", + "abnormal shape of continuant", "independent continuant", - "multicellular anatomical structure", - "posterior region of body", - "Metabolic acidosis", - "zeugopod", - "skeletal element", - "appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "limb endochondral element", - "bone of free limb or fin", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lung fibrosis", - "Organic aciduria", - "Abnormal diaphysis morphology", - "Abnormal DLCO", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "Abnormal knee morphology", - "abnormality of respiratory system physiology", - "polyatomic entity", "epithelial tube", "respiratory system", "Abnormal skeletal morphology", "decreased level of phosphate in independent continuant", - "Abnormality of the respiratory system", - "abnormal respiratory system", + "abnormality of respiratory system physiology", + "polyatomic entity", "abnormality of anatomical entity physiology", - "lower respiratory tract", - "Abnormality of lower limb joint", - "anatomical system", - "Abnormal lung morphology", - "haemolymphatic fluid", - "subdivision of organism along main body axis", - "Bowing of the legs", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "lung", - "abnormal kidney morphology", - "main body axis", - "organic acid", - "abnormal hindlimb zeugopod", - "ossification", - "Abnormal circulating metabolite concentration", - "pelvic appendage", - "endoderm-derived structure", - "pair of lungs", - "abnormal respiratory system morphology", - "viscus", - "increased level of glucose in urine", - "Decreased DLCO", - "body proper", - "trunk region element", - "knee", - "Hypophosphatemic rickets", - "respiratory airway", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "abnormal monoatomic ion homeostasis", + "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 independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "abnormal nephron morphology", - "Rickets", - "multi organ part structure", - "hemolymphoid system", - "abnormal bone element mass density", - "appendicular skeletal system", - "abnormal chemical entity level", + "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", - "abnormal role independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "abnormal chemical homeostasis", - "pnictogen molecular entity", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "metabolic process", - "bodily fluid", - "abnormal blood monoatomic ion level", - "respiration organ", - "increased bodily fluid acid 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", - "organism substance", - "kidney epithelium", - "phosphorus oxoacids and derivatives", - "compound organ", - "Abnormal blood phosphate concentration", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "carbon group molecular entity", - "primary amide", - "elemental molecular entity", - "phosphorus oxoacid derivative", - "decreased level of phosphate in blood", - "ion", - "Abnormality on pulmonary function testing", - "proximo-distal subdivision of respiratory tract", - "abnormal homeostatic process", + "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", - "phosphorus molecular entity", - "decreased level of chemical entity in independent continuant", - "Abnormal cardiovascular system physiology", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "paired limb/fin skeleton", - "heteroatomic molecular entity", - "chemical entity", - "increased independent continuant acid level", - "phosphate", - "abnormal multicellular organism chemical entity level", "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 level of chemical entity in bodily fluid", - "increased level of chemical entity", "increased independent continuant role level", - "peptide", - "continuant", - "protein polypeptide chain", - "circulatory system", - "abnormal independent continuant monoatomic ion level", - "excretory system", ], "has_phenotype_count": 14, "highlight": None, @@ -8447,7977 +8447,5684 @@ def search(): "score": None, }, { - "id": "MONDO:0014638", + "id": "MONDO:0010953", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", + "name": "Fanconi anemia complementation group E", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "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": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T 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": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0004808", + "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:0005528", - "HP:0009942", - "HP:0001903", + "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:0010628", + "HP:0003214", + "HP:0003213", + "HP:0000085", ], "has_phenotype_label": [ - "Acute myeloid leukemia", + "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", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", - "Anemia", + "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", - "Facial palsy", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney", ], "has_phenotype_closure": [ - "UPHENO:0080556", - "UBERON:0034713", - "UPHENO:0076702", - "HP:0001324", - "UPHENO:0076772", - "UBERON:0001021", - "UBERON:0005162", - "HP:0012638", - "HP:0011799", - "UBERON:0004473", - "UPHENO:0076710", - "HP:0001291", - "UPHENO:0086589", - "UBERON:0002376", - "UBERON:0001577", - "UBERON:0000010", - "UPHENO:0076722", - "UPHENO:0004523", - "UPHENO:0081709", - "UPHENO:0003587", - "HP:0410008", - "UPHENO:0002910", - "UPHENO:0087907", - "UPHENO:0080555", - "UBERON:0000122", - "UPHENO:0002908", - "UPHENO:0002816", - "UBERON:0015789", - "UBERON:0001785", - "UBERON:0000383", - "UBERON:0014892", - "UPHENO:0078730", - "GO:0050954", - "UPHENO:0002764", - "UBERON:0000020", - "UBERON:0007811", - "GO:0007600", - "UBERON:0000033", - "UBERON:0001016", - "UPHENO:0080377", - "UBERON:0004456", - "UBERON:0001032", - "GO:0050877", - "HP:0000234", - "HP:0000152", - "HP:0011804", - "GO:0032501", - "UPHENO:0050620", + "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:0002332", + "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", - "HP:0000759", - "UPHENO:0049874", - "HP:0001507", - "HP:0000002", - "UPHENO:0069254", - "UBERON:0001456", + "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", - "UPHENO:0080351", - "HP:0001510", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "UPHENO:0049700", + "GO:0010556", "GO:0031326", - "UPHENO:0052231", "GO:0009890", - "UPHENO:0002320", + "HP:0011276", + "UBERON:0005897", + "GO:0010605", "GO:0031324", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", + "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:0048523", - "GO:0043933", - "BFO:0000015", - "UPHENO:0050116", - "GO:0006996", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", + "GO:0090304", "HP:0001939", - "HP:0003221", - "GO:0008150", - "UPHENO:0049990", - "UPHENO:0050121", - "HP:0000365", - "GO:0005623", - "UPHENO:0049748", - "HP:0000598", - "GO:0010468", - "GO:0031327", - "GO:0050794", - "GO:0007605", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "GO:0006725", - "GO:0016043", - "HP:0003220", - "UBERON:0013701", - "GO:0050789", - "UBERON:0001015", - "GO:0071840", - "GO:0008152", - "GO:0009987", - "UPHENO:0050113", - "GO:0031052", - "HP:0012130", - "UPHENO:0088162", - "HP:0005918", - "HP:0031704", - "HP:0040070", - "UPHENO:0076718", - "UPHENO:0068971", + "UPHENO:0050845", + "HP:0001263", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0082794", "GO:0040007", - "UBERON:0001460", - "HP:0011297", - "HP:0004275", - "HP:0009601", - "UBERON:0034923", - "UBERON:0001647", - "HP:0000924", - "HP:0010987", - "GO:0003008", - "UPHENO:0084447", - "UBERON:0001440", - "HP:0025461", - "UPHENO:0063722", - "HP:0001872", - "GO:0071704", - "CL:0000219", - "UPHENO:0082875", - "GO:0006259", - "UBERON:0001474", - "UPHENO:0076675", - "GO:1901360", - "UPHENO:0002830", - "CL:0001035", - "UBERON:0002204", - "HP:0030319", + "UPHENO:0049874", + "UPHENO:0010763", + "UBERON:0010543", + "HP:0001507", + "UPHENO:0054299", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", + "UPHENO:0069523", + "UPHENO:0080209", + "GO:0033554", + "UBERON:0000970", + "UBERON:0001456", + "UPHENO:0087924", + "HP:0100887", + "HP:0000478", + "UPHENO:0002910", "UPHENO:0020041", - "HP:0010827", "HP:0000271", - "CL:0000329", - "UPHENO:0002905", - "CL:0000151", - "UPHENO:0020584", - "UBERON:0002091", - "UBERON:0013702", - "HP:0002813", - "CL:0000764", - "UBERON:0013700", - "UPHENO:0002896", - "UBERON:0011250", - "CL:0000458", - "CL:0000763", - "HP:0001873", - "UBERON:0002371", + "HP:0011025", + "HP:0000315", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", + "HP:0004312", + "HP:0001896", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", + "UPHENO:0046505", + "UPHENO:0088186", + "HP:0009381", + "UPHENO:0002433", + "CL:0000233", + "UPHENO:0026506", + "UBERON:0015061", + "UBERON:0003129", "UBERON:0010708", - "HP:0006265", - "HP:0009778", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0085344", - "HP:0001881", - "HP:0040012", - "UBERON:0004765", - "UPHENO:0086005", - "UBERON:0000467", - "HP:0005922", - "UPHENO:0084987", - "UBERON:5001463", + "UBERON:0012139", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "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", - "UBERON:0006058", - "GO:0034641", - "HP:0011893", - "UPHENO:0087355", - "HP:0020047", - "CL:0002092", - "UBERON:0007272", - "GO:0006807", - "UPHENO:0006910", - "HP:0012145", - "UBERON:5102389", - "UBERON:0004288", - "UPHENO:0085144", - "BFO:0000040", - "UPHENO:0001005", + "UPHENO:0021474", + "UBERON:5001463", + "UPHENO:0084448", + "UBERON:0010363", + "HP:0002977", + "HP:0001167", + "HP:0040064", + "HP:0045060", + "UPHENO:0086633", + "HP:0009777", + "UPHENO:0026183", + "UPHENO:0002905", + "UPHENO:0076723", + "UPHENO:0008523", + 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"UBERON:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", - "UPHENO:0046411", - "UBERON:0001436", - "UPHENO:0081700", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", - "UBERON:0011216", - "UBERON:0012150", - "UPHENO:0081424", - "UBERON:0010741", - ], - "has_phenotype_closure_label": [ - "skeletal musculature", - "Abnormality of facial soft tissue", - "abnormal muscle organ morphology", - "cranial neuron projection bundle", - "Abnormality of the nervous system", - "decreased muscle organ strength", - "nerve", - "musculature of body", - "neuron projection bundle", - "Abnormal peripheral nervous system morphology", - "Weakness of facial musculature", - "Muscle weakness", - "abnormal peripheral nervous system morphology", - "abnormal nerve", - "decreased anatomical entity strength", - "facial muscle", - "cranial muscle", - "abnormal head morphology", - "subdivision of head", - "Abnormality of the seventh cranial nerve", - "Cranial nerve paralysis", - "Abnormal cranial nerve morphology", - "abnormal craniocervical region morphology", - "abnormal facial nerve", - "gustatory system", - "nervous system", - "nerve of head region", - "multi cell part structure", - "Abnormal skeletal muscle morphology", - "cranial or facial muscle", - "skeletal muscle organ, vertebrate", - "paralysed cranial nerve", - "abnormal nervous system", - "abnormal musculature", - "Abnormal cranial nerve physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "sensory perception of mechanical stimulus", - "sensory perception", - "decreased sensory perception of sound", - "Abnormality of the ear", - "Hearing abnormality", - "sensory system", - "abnormality of anatomical entity physiology", - "Abnormality of head or neck", - "abnormal peripheral nervous system", - "body proper", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + 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"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", + ], + "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", - "changed biological_process rate", - "abnormality of ear physiology", - "musculature", - "Hearing impairment", - "main body axis", - "subdivision of organism along main body axis", - "nervous system process", - "Abnormality of the head", - "growth", - "delayed biological_process", - "Abnormality of the face", - "decreased height of the anatomical entity", - "Growth delay", - "decreased size of the multicellular organism", + "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", - "delayed growth", "decreased height of the multicellular organism", - "system process", "abnormality of multicellular organism height", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "negative regulation of biosynthetic process", - "regulation of macromolecule biosynthetic process", + "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 cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", - "regulation of macromolecule metabolic process", - "negative regulation of metabolic process", - "negative regulation of cellular 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", - "regulation of biological process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Abnormality of the peripheral nervous system", - "decreased qualitatively biological_process", "abnormal cellular component organization", - "Abnormal muscle physiology", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "Abnormality of chromosome stability", - "abnormality of nervous system physiology", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Chromosomal breakage induced by crosslinking agents", + "Abnormality of DNA repair", + "abnormal organelle organization", "metabolic process", - "abnormal cellular 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", - "abnormal facial muscle", - "multicellular organismal process", + "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", + "obsolete heterocycle metabolic process", "obsolete cellular aromatic compound metabolic process", - "organelle organization", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "face", - "Growth abnormality", + "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", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "biological_process", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "anterior region of body", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "abnormal myeloid cell morphology", - "limb bone", - "musculature of face", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "craniocervical muscle", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal nervous system morphology", + "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", - "abnormal limb bone", - "abnormal skeletal system", - "abnormal phalanx of manus morphology", - "occurrent", - "organ", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "forelimb endochondral element", - "multicellular anatomical structure", - "cellular process", - "Abnormal digit morphology", - "Abnormal nervous system physiology", + "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", - "tissue", - "entire sense organ system", - "continuant", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "facial nerve", - "Abnormality of the skeletal system", - "decreased size of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "muscle structure", - "material anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "limb endochondral element", - "Abnormal leukocyte count", - "autopod region", - "skeleton", - "manual digit bone", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "decreased length of anatomical entity", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "decreased length of anatomical entity in independent continuant", - "eukaryotic cell", - "skeleton of pectoral complex", - "Pancytopenia", - "bone marrow", - "acropodium region", - "Abnormal cellular immune system morphology", - "myeloid cell", - "immune system", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "blood cell", - "paired limb/fin segment", - "abnormal cranial nerve morphology", - "cellular metabolic process", - "biogenic amine secreting cell", - "abnormal blood cell morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of bone marrow cell morphology", - "abnormal limb bone morphology", - "serotonin secreting cell", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", "process", "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of cranial nerve physiology", - "abnormal appendicular skeleton morphology", - "abnormal platelet", - "structure with developmental contribution from neural crest", - "long bone", - "Duplication of bones involving the upper extremities", - "non-connected functional system", - "Abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", - "decreased biological_process", - "Short stature", - "Aplasia/hypoplasia of the extremities", - "aplasia or hypoplasia of manual digit", - "digit 1", - "skeletal system", - "motile cell", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormality of facial musculature", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "organic cyclic compound metabolic process", - "manual digitopodium bone", - "segment of autopod", - "Abnormal cellular phenotype", - "skeleton of manus", - "Short finger", - "craniocervical region musculature", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "regulation of biosynthetic process", - "acropodial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "oxygen accumulating cell", - "abnormal forelimb morphology", - "material entity", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "craniocervical region", - "abnormal long bone morphology", - "negative regulation of macromolecule metabolic process", + "system process", + "Duplication of hand bones", "abnormal nitrogen compound metabolic process", - "manual digit 1 digitopodial skeleton", - "hemolymphoid system", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "disconnected anatomical group", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "abnormal hematopoietic system", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "abnormally decreased number of platelet", - "phalanx", - "erythrocyte", - "abnormal blood cell", - "manual digit 1 phalanx", - "organ system subdivision", - "abnormal phenotype by ontology source", - "abnormal size of multicellular organism", - "bone element", - "platelet", - "vestibulo-auditory system", - "hematopoietic cell", - "skeletal element", - "Bone marrow hypocellularity", - "Anemia", - "abnormal bone marrow cell", - "Acute leukemia", - "abnormal immune system", - "abnormal anatomical entity", - "abnormally decreased number of cell", - "muscle organ", - "abnormal anatomical entity length", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "quality", - "phenotype by ontology source", - "anucleate cell", - "manus bone", - "Abnormality of the hand", - "Hematological neoplasm", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "hematopoietic system", - "autopod bone", - "multicellular organism", - "mesoderm-derived structure", - "skeleton of limb", - "nucleate cell", - "Abnormal finger morphology", - "anatomical system", - "anatomical structure", - "abnormally decreased number of myeloid cell", - "Abnormality of the musculoskeletal system", - "Abnormal finger phalanx morphology", - "abnormal bone marrow morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "appendage", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal immune system morphology", - "manual digit 1", - "Aplasia/hypoplasia involving bones of the extremities", - "decreased length of digit", - "Short thumb", - "abnormal manual digit 1 morphology", - "digit 1 plus metapodial segment", - "digit", - "endochondral element", - "abnormality of muscle organ physiology", - "multi-limb segment region", - "manual digit phalanx endochondral element", - "abnormal sensory perception", - "abnormal manus", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", + "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 number of anatomical entities of type anatomical entity in independent continuant", "abnormal skeletal system morphology", - "protein-containing material entity", - "aplasia or hypoplasia of anatomical entity", - "All", - "anatomical collection", - "paired limb/fin", - "digit plus metapodial segment", - "abnormal face", - "autopodial extension", - "subdivision of organism along appendicular axis", - "paired limb/fin skeleton", - "abnormal ear", - "abnormal autopod region morphology", - "bone of free limb or fin", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "autopodial skeleton", - "skeleton of digitopodium", + "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", - "forelimb", - "Acute myeloid leukemia", - "Short digit", - "lateral structure", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", + "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", - "aplasia or hypoplasia of manual digit 1", - "bone marrow cell", + "abnormal limb morphology", "system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Abnormal appendicular skeleton morphology", - "Facial palsy", - "manual digit", - "paralysed anatomical entity", - "phalanx endochondral element", - "pectoral appendage skeleton", - "abnormal manus morphology", - "Abnormality of the musculature", - "abnormal digit", - "head", - "Abnormality of limb bone", - "cranial nerve", - "abnormal phalanx morphology", - "abnormal arm", - "manus", - "abnormal limb", - "skeletal musculature of head", - "organism subdivision", - "Leukemia", - "bone of pectoral complex", + "aplasia or hypoplasia of manual digit 1", "entity", - "subdivision of skeletal system", - "endochondral bone", - "subdivision of skeleton", - "arm", - "Abnormal ear physiology", - "sensory perception of sound", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "decreased qualitatively sensory perception of sound", - "cell", + "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", - "Duplication of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "pectoral complex", - "digit 1 digitopodial skeleton", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "Abnormal digit morphology", "appendicular skeletal system", - "limb skeleton subdivision", - "upper limb segment", - "appendicular skeleton", - "abnormal manual digit morphology in the independent continuant", - "Abnormal hand morphology", - "abnormal limb morphology", - "Abnormality of thumb phalanx", - "decreased length of manual digit", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "primary metabolic process", - "skeleton of manual digitopodium", - "abnormal head", - "skeleton of manual acropodium", - "axial musculature", - "manual digit digitopodial skeleton", - "pectoral appendage", - "autopod endochondral element", - "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of hand bones", - "peripheral nervous system", - "obsolete cell", - "limb long bone", - "forelimb bone", - "Abnormal long bone morphology", - "phalanx of manus", - "manual digit 1 phalanx endochondral element", - "digitopodium bone", - "forelimb long bone", - ], - "has_phenotype_count": 11, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0014985", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group V", - "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"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCV", - "Fanconi Anemia, complementation Group 5", - "Fanconi Anemia, complementation group V", - "Fanconi Anemia, complementation group type V", - "Fanconi anaemia caused by mutation in MAD2L2", - "Fanconi anaemia complementation group type V", - "Fanconi anemia caused by mutation in MAD2L2", - "Fanconi anemia complementation group type V", - "Fanconi anemia, complementation GROUP V", - "MAD2L2 Fanconi anaemia", - "MAD2L2 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001875", - "HP:0000252", - "HP:0001873", - "HP:0005528", - "HP:0006254", - "HP:0003221", - "HP:0001903", - "HP:0004322", - ], - "has_phenotype_label": [ - "Neutropenia", - "Microcephaly", + "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", - "Bone marrow hypocellularity", - "Elevated circulating alpha-fetoprotein concentration", - "Chromosomal breakage induced by crosslinking agents", - "Anemia", - "Short stature", - ], - "has_phenotype_closure": [ - "GO:0040007", - "UPHENO:0081424", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0001507", - "UPHENO:0012541", - "HP:0000002", - "HP:0001510", - "HP:0001877", - "CL:0000329", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0010558", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0048519", - "GO:0006139", - "GO:1901360", - "GO:0043170", - "GO:0046483", - "UPHENO:0050845", - "HP:0003220", - "GO:0071840", - "UPHENO:0078606", - "UPHENO:0050113", - "GO:0031052", - "CHEBI:24431", - "UPHENO:0051680", - "HP:0006254", - "UBERON:0010323", - "UPHENO:0086045", - "HP:0000234", - "UPHENO:0088338", - "UPHENO:0087089", - "UPHENO:0087123", - "HP:0000252", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0000541", - "HP:0001874", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "NCBITaxon:2759", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000152", - "UBERON:0000475", - "HP:0000240", - "UBERON:0001434", - "UPHENO:0076805", - "HP:0025461", - "HP:0002060", - "CL:0000988", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "HP:0010987", - "UPHENO:0081435", - "HP:0000924", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0022529", - "UPHENO:0049587", - "UPHENO:0002844", - "UPHENO:0001002", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", - "UBERON:0011676", - "UBERON:0000061", - "UPHENO:0001003", - "GO:0050789", - "UBERON:0013701", - "HP:0001881", - "UPHENO:0085344", - "UPHENO:0063722", - "HP:0001872", - "HP:0032180", - "UPHENO:0075159", - "HP:0100547", - "GO:0071704", - "CL:0000219", - "UBERON:0011137", - "BFO:0000020", - "HP:0011991", - "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", - "CHEBI:33256", - "UBERON:0000062", - "UPHENO:0086019", - "UPHENO:0011498", - "UPHENO:0077822", - "UBERON:0011216", - "UPHENO:0076703", - "UBERON:0002193", - "CL:0001035", - "UPHENO:0085354", - "PR:000018263", - "UPHENO:0076799", - "UBERON:0000481", - "UPHENO:0020584", - "UPHENO:0087518", - "OBI:0100026", - "CL:0000766", - "UPHENO:0084928", - "UPHENO:0088318", - "HP:0000001", - "HP:0011875", - "HP:0430071", - "UPHENO:0085042", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "HP:0012443", - "HP:0032251", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0049700", - "HP:0001911", - "UPHENO:0085405", - "UPHENO:0002764", - "GO:0006807", - "UPHENO:0006910", - "CL:0002242", - "GO:0010556", - "PR:000050567", - "UPHENO:0085076", - "BFO:0000003", - "UPHENO:0085356", - "PATO:0000001", - "UBERON:0034923", - "HP:0040012", - "UPHENO:0086005", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0085118", - "HP:0002715", - "GO:0090304", - "UPHENO:0015280", - "HP:0045056", - "UPHENO:0004523", - "UPHENO:0086176", - "GO:0065007", - "HP:0010974", - "UPHENO:0085070", - "CHEBI:36963", - "HP:0000118", - "UBERON:0000033", - "UBERON:0000178", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0001875", - "UPHENO:0077426", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "UPHENO:0085984", - "CHEBI:51143", - "CL:0000255", - "UPHENO:0085189", - "UPHENO:0051612", - "CL:0000738", - "CL:0000763", - "CL:0000458", - "UPHENO:0088170", - "GO:0044238", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", - "CHEBI:37622", - "HP:0004322", - "UBERON:0003129", - "UPHENO:0086016", - "CL:0000000", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0004120", - "CL:0000094", - "UPHENO:0046362", - "HP:0007364", - "UBERON:0000468", - "HP:0032309", - "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", - "NCBITaxon:33208", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0010314", - "UBERON:0001062", - "UPHENO:0088321", - "CL:0000775", - "UBERON:0000075", - "UBERON:0010912", - "CL:0000225", - "UBERON:0010000", - "UBERON:0002390", - "CHEBI:15841", - "GO:0031326", - "UBERON:0002090", - "CHEBI:23367", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", - "UPHENO:0001005", - "HP:0040195", - "GO:0016043", - "HP:0002011", - "HP:0012145", - "BFO:0000002", - "HP:0012639", - "UPHENO:0051804", - "UBERON:0002204", - "GO:0044237", - "HP:0002977", - "NCBITaxon:131567", - "NCBITaxon:33154", - "GO:0006725", - "UBERON:0001893", - "UPHENO:0080200", - "UBERON:0001890", - "HP:0033127", - "UPHENO:0076702", - "HP:0001903", - "UBERON:0005944", - "UPHENO:0088176", - "UBERON:0034925", - "BFO:0000040", - "HP:0033405", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "UBERON:0007811", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0086173", - "UPHENO:0086049", - "HP:0011017", - "PR:000000001", - "UPHENO:0084987", - "UPHENO:0048707", - "CL:0000232", - "HP:0011873", - "CL:0000151", - "UPHENO:0085302", - "UBERON:0004288", - "UPHENO:0085144", - "HP:0020047", - "CL:0002092", - "CHEBI:33579", - "UPHENO:0051668", - "UPHENO:0087355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "UPHENO:0087339", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0005528", - "UBERON:0002371", - "GO:0006259", - "UBERON:0001474", - "UPHENO:0085195", - "UBERON:0001016", - "CHEBI:36357", - "UPHENO:0077821", - "UBERON:0000463", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:16670", - "HP:0004364", - "HP:0010876", - "UPHENO:0085330", - "GO:0008152", - "UBERON:0002616", - "UPHENO:0048751", - "UPHENO:0046284", - "CHEBI:50860", - "CHEBI:16541", - "UPHENO:0068971", - "CHEBI:33695", - "UBERON:0001017", - "UPHENO:0081547", - "CHEBI:25806", - "CL:0000081", - "CHEBI:35352", - "UPHENO:0085068", - "CHEBI:32988", - "GO:0009987", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0020888", - "UPHENO:0077813", - "GO:0008150", - "CHEBI:33675", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", - "BFO:0000015", - "CHEBI:33694", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0051801", - ], - "has_phenotype_closure_label": [ - "delayed biological_process", - "Short stature", - "decreased height of the anatomical entity", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "abnormality of anatomical entity height", - "delayed growth", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "protein-DNA complex organization", - "regulation of cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", - "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", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal cellular metabolic process", - "obsolete cell", - "abnormal metabolic process", - "cellular process", - "abnormal cellular process", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "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", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "abnormal telencephalon morphology", - "anatomical entity", - "cellular organisms", - "polyatomic entity", - "Abnormality of head or neck", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "regional part of brain", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "Morphological central nervous system abnormality", - "cell", - "neutrophil", - "anterior region of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal role bodily fluid level", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "Chromosome breakage", - "abnormal chromatin organization", - "mesoderm-derived structure", - "macromolecule", - "anatomical system", - "main body axis", - "immune system", - "myeloid cell", - "organonitrogen compound", - "root", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "Abnormal neutrophil count", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal bone marrow morphology", - "quality", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", - "granulocyte", - "abnormal number of anatomical enitites of type myeloid cell", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "nervous system", - "anatomical collection", - "All", - "abnormal skull morphology", - "increased level of protein", - "abnormally decreased number of leukocyte in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "central nervous system", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "material anatomical entity", - "abnormal platelet morphology", - "Abnormal platelet count", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "nucleate cell", - "postcranial axial skeletal system", - "abnormal phenotype by ontology source", - "hematopoietic cell", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "abnormal immune system morphology", - "nitrogen molecular entity", - "chromatin organization", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "amino acid chain", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "organic molecular entity", - "primary amide", - "eukaryotic cell", - "skull", - "abnormal head", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "information biomacromolecule", - "multicellular organism", - "hematopoietic system", - "abnormally decreased number of neutrophil", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal granulocyte morphology", - "anatomical structure", - "regulation of macromolecule biosynthetic process", - "Abnormal circulating metabolite concentration", - "abnormally decreased number of granulocyte", - "structure with developmental contribution from neural crest", - "abnormal neutrophil", - "ectoderm-derived structure", - "abnormally decreased number of hematopoietic cell", - "pnictogen molecular entity", - "Abnormal nervous system morphology", - "abnormally decreased number of cell", - "oxygen molecular entity", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "organic amino compound", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "material entity", - "abnormal alpha-fetoprotein level", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "abnormal DNA metabolic process", - "blood cell", - "chemical entity", - "abnormal myeloid cell morphology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", - "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", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "abnormal size of multicellular organism", - "bone element", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal granulocyte morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "protein-containing molecular entity", - "skeleton", - "bone marrow", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal immune system", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of the head", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "erythrocyte", - "abnormal blood cell", - "organ system subdivision", - "abnormal size of skull", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "organism subdivision", - "decreased size of the anatomical entity", - "blood", - "subdivision of skeleton", - "Opisthokonta", - "telencephalon", - "axial skeletal system", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "postcranial axial skeleton", - "abnormal skeletal system", - "Metazoa", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Eumetazoa", - "Eukaryota", - "abnormal craniocervical region", - "organism", - "Decreased head circumference", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal platelet", - "cellular metabolic process", - "biogenic amine secreting cell", - "abnormal blood chemical entity level", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "bone cell", - "Abnormality of bone marrow cell morphology", - "polypeptide", - "abnormal hematopoietic system morphology", - "Bone marrow hypocellularity", - "skeletal element", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", - "Abnormal circulating alpha-fetoprotein concentration", - "Abnormality of multiple cell lineages in the bone marrow", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "peptide", - "continuant", - "protein polypeptide chain", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "abnormal role independent continuant level", - "abnormal independent continuant protein level", - "chalcogen molecular entity", - "entity", - "subdivision of skeletal system", - "Abnormal circulating protein concentration", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal protein level", - "metabolic process", - "bodily fluid", - "organism substance", - "organ", - "occurrent", - "increased level of alpha-fetoprotein", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "organic substance metabolic process", - "Abnormal cellular physiology", - "increased level of chemical entity", - "head", - "amide", - "platelet", - "organooxygen compound", - "abnormal independent continuant alpha-fetoprotein level", - "p-block molecular entity", - "biomacromolecule", - "Abnormal platelet morphology", - "heteroorganic entity", - "alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating organic amino compound concentration", - "abnormal multicellular organism chemical entity level", - "main group molecular entity", - "negative regulation of cellular biosynthetic process", - ], - "has_phenotype_count": 8, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0011325", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group F", - "full_name": None, - "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", - "xref": ["DOID:0111088", "GARD:15355", "NCIT:C125707", "OMIM:603467"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCF", - "Fanconi Anemia, complementation group type F", - "Fanconi anaemia complementation group type F", - "Fanconi anemia complementation group F", - "Fanconi anemia complementation group type F", - "Fanconi anemia, complementation group F", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0008551", - "HP:0002984", - "HP:0009777", - "HP:0000750", - "HP:0000960", - "HP:0001882", - "HP:0000252", - "HP:0000957", - "HP:0002247", - "HP:0000028", - "HP:0001631", - "HP:0009778", - "HP:0001873", - "HP:0000125", - "HP:0000405", - "HP:0000824", - "HP:0000568", - "HP:0002090", - "HP:0003221", - "HP:0000076", - "HP:0001643", - "HP:0005528", - "HP:0030260", - "HP:0000953", - "HP:0001328", - "HP:0001903", - "HP:0001508", - "HP:0001195", - "HP:0000089", - "HP:0001233", - "HP:0004322", - "HP:0001511", - "HP:0001561", - "HP:0011419", - ], - "has_phenotype_label": [ - "Microtia", - "Hypoplasia of the radius", - "Absent thumb", - "Delayed speech and language development", - "Sacral dimple", - "Leukopenia", - "Microcephaly", - "Cafe-au-lait spot", - "Duodenal atresia", - "Cryptorchidism", - "Atrial septal defect", - "Short thumb", - "Thrombocytopenia", - "Pelvic kidney", - "Conductive hearing impairment", - "Decreased response to growth hormone stimulation test", - "Microphthalmia", - "Pneumonia", - "Chromosomal breakage induced by crosslinking agents", - "Vesicoureteral reflux", - "Patent ductus arteriosus", - "Bone marrow hypocellularity", - "Microphallus", - "Hyperpigmentation of the skin", - "Specific learning disability", - "Anemia", - "Failure to thrive", - "Single umbilical artery", - "Renal hypoplasia", - "2-3 finger syndactyly", - "Short stature", - "Intrauterine growth retardation", - "Polyhydramnios", - "Placental abruption", - ], - "has_phenotype_closure": [ - "UBERON:0003100", - "UPHENO:0005170", - "UBERON:0000173", - "HP:0001561", - "GO:0009790", - "UPHENO:0080393", - "UPHENO:0081436", - "GO:0048856", - "UPHENO:0005642", - "UPHENO:0081424", - "UPHENO:0000543", - "UPHENO:0080351", - "UPHENO:0075159", - "UBERON:5003622", - "UBERON:0006049", - "UPHENO:0078125", - "UPHENO:0078307", - "UPHENO:0078215", - "UPHENO:0076747", - "UPHENO:0078288", - "UPHENO:0075182", - "UPHENO:0081210", - "HP:0001195", - "UBERON:0000478", - "HP:0001159", - "UBERON:0000323", - "HP:0011403", - "UBERON:0002331", - "UPHENO:0075949", - "UBERON:0000922", - "HP:0010881", - "HP:0010948", - "GO:0040007", - "UPHENO:0049874", - "HP:0001507", - "UPHENO:0082794", - "HP:0001508", - "UPHENO:0054299", - "UPHENO:0010795", - "HP:0001877", - "HP:0001328", - "UBERON:0008811", - "HP:0000036", - "HP:0008736", - "UBERON:0000989", - "UPHENO:0050034", - "CL:0001035", - "HP:0012145", - "UPHENO:0087339", - "UPHENO:0087355", - "UBERON:0011695", - "HP:0002597", - "UPHENO:0086797", - "UPHENO:0002678", - "UPHENO:0087018", - "HP:0030962", - "UBERON:0004716", - "UPHENO:0015290", - "UBERON:0004572", - "UBERON:0006876", - "UBERON:0002201", - "HP:0001194", - "UBERON:0003498", - "UBERON:0007798", - "UBERON:0004145", - "UPHENO:0076729", - "UBERON:0000477", - "UBERON:0009856", - "CL:0000232", - "UPHENO:0002806", - "UPHENO:0082878", - "UBERON:0000056", - "HP:0010936", - "HP:0000069", - "UBERON:0036295", - "UBERON:0018707", - "UPHENO:0002437", - "HP:0000076", - "UPHENO:0075852", - "UBERON:0000479", - "HP:0000014", - "GO:0031326", - "GO:0009890", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0009889", - "GO:0031323", - "GO:0090304", - "UPHENO:0050116", - "HP:0003221", - "GO:0005623", - "UPHENO:0049700", - "UPHENO:0000541", - "GO:0010468", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "HP:0000009", - "HP:0001939", - 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"UPHENO:0085371", - "CL:0000000", - "UPHENO:0050101", - "UPHENO:0088338", - "UPHENO:0078743", - "UPHENO:0076703", - "UPHENO:0085330", - "HP:0010460", - "UPHENO:0035025", - "UPHENO:0079876", - "UBERON:0001007", - "UPHENO:0078327", - "UPHENO:0087123", - "UBERON:0018674", - "UPHENO:0088319", - "UPHENO:0075872", - "GO:0010605", - "UPHENO:0035147", - "UBERON:0000474", - "HP:0025354", - "CL:0000255", - "UPHENO:0005986", - "CL:0002242", - "UPHENO:0087643", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0063722", - "UPHENO:0087376", - "HP:0001881", - "UPHENO:0078081", - "GO:0015833", - "UPHENO:0076735", - "UBERON:0006314", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "UPHENO:0085195", - "UPHENO:0063629", - "UPHENO:0086635", - "HP:0000812", - "HP:0000240", - "UPHENO:0081628", - "UPHENO:0086855", - "UBERON:0001691", - "UPHENO:0075220", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", - "UBERON:0000055", - "UPHENO:0083689", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0069391", - "UBERON:0001017", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "HP:0012443", - "UBERON:0002616", - "HP:0000050", - "UPHENO:0054970", - "HP:0012758", - "HP:0002011", - "UPHENO:0046707", - "UPHENO:0074575", - "UBERON:0000170", - "UPHENO:0076805", - "UPHENO:0080200", - "UBERON:0001890", - "UPHENO:0002476", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000475", - "UPHENO:0076702", - "UPHENO:0076776", - "NCBITaxon:6072", - "UBERON:0000007", - "UPHENO:0080221", - "HP:0001034", - "UPHENO:0085410", - "HP:0001631", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0000481", - "HP:0000957", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0076684", - "UPHENO:0074589", - "UBERON:0003460", - "HP:0012733", - "GO:0010817", - "GO:0043473", - "UBERON:0004537", - "CL:0000081", - "UBERON:0000064", - "UBERON:0013522", - "HP:0002664", - "UPHENO:0063569", - "HP:0002589", - "UPHENO:0076783", - "HP:0011793", - "UPHENO:0003058", - "UBERON:0004088", - "UBERON:0000025", - "UBERON:0002090", - "HP:0002247", - "UBERON:0000072", - "UPHENO:0080362", - "GO:0006325", - "UPHENO:0063639", - "UPHENO:0053580", - "UPHENO:0081594", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "UBERON:0002114", - "UPHENO:0082761", - "CL:0000738", - "UBERON:0000160", - "UPHENO:0087427", - "UPHENO:0002808", - "HP:0025031", - "HP:0010461", - "UPHENO:0086621", - "HP:0001671", - "HP:0003026", - "CL:0000019", - "UPHENO:0081423", - "UBERON:0005409", - "UPHENO:0052231", - "HP:0000028", - "UPHENO:0069523", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0088337", - "HP:0002244", - "UBERON:0001558", - "UPHENO:0086201", - "UPHENO:0076289", - "UBERON:0010712", - "HP:0000080", - "GO:0048519", - "UBERON:0006058", - "HP:0008772", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0078267", - "HP:0001000", - "UPHENO:0080382", - "GO:0048609", - "HP:0011419", - "GO:0051179", - "GO:0003006", - "UBERON:0003622", - "UBERON:0002471", - "UPHENO:0081755", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "UPHENO:0081547", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0000960", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015228", - "UPHENO:0002830", - "UBERON:0004288", - "CL:0000015", - "UPHENO:0002764", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0004176", - "HP:0008669", - "UBERON:0002405", - "UBERON:0003606", - "UPHENO:0021561", - "UPHENO:0086198", - "UPHENO:0077889", - "UPHENO:0079826", - "UPHENO:0002595", - "UBERON:0004122", - "UPHENO:0049940", - "CL:0000413", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0003690", - "HP:0000078", - "HP:0100767", - "UBERON:0001968", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "HP:0001626", - ], - "has_phenotype_closure_label": [ - "female organism", - "abnormal female reproductive system", - "Intrauterine growth retardation", - "multicellular organism development", - "delayed biological_process", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormally fused anatomical entity and anatomical entity", - "abnormally fused digit and digit", - "Abnormal 2nd finger morphology", - "digit 2", - "abnormally fused digit and anatomical entity", - "digit 2 plus metapodial segment", - "abnormally fused manual digit 2 and manual digit 3", - "abnormally fused anatomical entity and digit", - "Syndactyly", - "manual digit 2", - "abnormal manual digit 2 morphology", - "Renal hypoplasia", - "decreased size of the kidney", - "decreased embryo development", - "abnormal umbilical blood vessel morphology", - "Fetal ultrasound soft marker", - "entire extraembryonic component", - "Abnormality of the umbilical cord", - "Single umbilical artery", - "developing anatomical structure", - "abnormal late embryo", - "abnormal growth", - "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormality of anatomical entity mass", - "erythroid lineage cell", - "erythrocyte", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "abnormal penis morphology", - "Hypoplasia of penis", - "External genital hypoplasia", - "Abnormal penis morphology", - "decreased size of the penis", - "anatomical structure development", - "Hypoplastic male external genitalia", - "tissue", - "Bone marrow hypocellularity", - "abnormal hematopoietic system morphology", - "Abnormality of bone marrow cell morphology", - "bone cell", - "conceptus", - "Abnormal blood vessel morphology", - "blood vasculature", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "heart vasculature", - "thoracic segment blood vessel", - "blood vessel", - "outflow tract", - "Congenital malformation of the great arteries", - "trunk blood vessel", - "abnormal artery morphology in the independent continuant", - "coronary vessel", - "abnormal incomplete closing of the ductus arteriosus", - "vascular system", - "abnormal systemic artery morphology", - "systemic artery", - "Abnormality of the lower urinary tract", - "Functional abnormality of the bladder", - "decreased size of the external male genitalia", - "Abnormal ureter physiology", - "abnormal embryo development", - "Microphallus", - "renal pelvis/ureter", - "bladder organ", - "Abnormality of the amniotic fluid", - "urinary bladder", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "abnormal lower urinary tract", - "ureter", - "sac", - "Abnormality of the ureter", - "abnormal penis", - "abnormality of ureter physiology", - "abnormal primary metabolic process", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "protein-containing complex organization", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Abnormality of chromosome stability", - "Abnormal cellular physiology", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal DNA metabolic process", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Failure to thrive", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "Placental abruption", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "abnormal vascular system morphology", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "Pneumonia", - "increased inflammatory response in independent continuant", - "Abnormality of immune system physiology", - "abnormal blood vessel morphology", - "lung", - "decreased growth", - "increased qualitatively inflammatory response", - "respiratory airway", - "Abnormal respiratory system physiology", - "abnormal lung morphology", - "abnormal response to stress", - "Abnormality of prenatal development or birth", - "increased inflammatory response", - "proximo-distal subdivision of respiratory tract", - "abnormal respiratory system", - "Increased inflammatory response", - "Abnormality of the respiratory system", - "abnormality of respiratory system physiology", - "abnormal bone marrow morphology", - "lower respiratory tract", - "response to stress", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "Abnormality of the face", - "simple eye", - "Abnormality of the eye", - "abnormal face", - "camera-type eye", - "orbital region", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "visual system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of the vasculature", - "abnormal growth hormone secretion", - "abnormal biological_process in nervous system", - "abnormal multicellular organism chemical entity level", - "peptide secretion", - "external male genitalia hypoplasia", - "peptide transport", - "chemical entity", - "Abnormal endocrine physiology", - "secretion", - "increased qualitatively response to stimulus", - "signal release", - "regulation of biological process", - "cell communication", - "vasculature of organ", - "Abnormal circulating hormone concentration", - "abnormal secretion in independent continuant", - "Abnormal growth hormone level", - "abnormal inflammatory response", - "neuroendocrine gland", - "lower urinary tract", - "Hypopituitarism", - "decreased secretion in independent continuant", - "regulation of biological quality", - "Abnormal pituitary gland morphology", - "glandular system", - "abnormal independent continuant chemical entity level", - "abnormal pituitary gland morphology", - "gland", - "female reproductive system", - "gland of diencephalon", - "pituitary gland", - "adenohypophysis", - "abnormal blood chemical entity level", - "Abnormality of the diencephalon", - "abnormal role independent continuant level", - "abnormal diencephalon morphology", - "localization", - "cellular process", - "abnormal endocrine gland morphology", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal diencephalon", - "abnormal urinary bladder", - "regulation of hormone levels", - "transport", - "Decreased response to growth hormone stimulation test", - "decreased biological_process in brain", - "abnormal secretion by cell", - "abnormal hypothalamus-pituitary axis", - "neuroendocrine system", - "peptide hormone secretion", - "Anterior hypopituitarism", - "abnormal hormone blood level", - "abnormal localization", - "Abnormality of metabolism/homeostasis", - "abnormal chemical entity level", - "abnormal transport", - "abnormal middle ear", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormality of middle ear physiology", - "nucleic acid metabolic process", - "abnormal sensory perception of sound", - "Hearing abnormality", - "obsolete nitrogen compound metabolic process", - "Abnormal ear physiology", - "abnormality of urinary bladder physiology", - "Abnormality of the middle ear", - "decreased vibrational conductance of sound to the inner ear", - "multi organ part structure", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "sensory perception of sound", - "system process", - "vibrational conductance of sound to the inner ear", - "Pelvic kidney", - "excretory tube", - "abnormal kidney morphology", - "Ectopic kidney", - "abnormal renal system", - "abdomen element", - "Abnormality of the kidney", - "Abnormal localization of kidney", - "Abnormality of the upper urinary tract", - "renal system", - "excretory system", - "organic substance transport", - "Abnormal platelet count", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "abnormal placenta", - "Abnormal cell morphology", - "abnormal hematopoietic cell morphology", - "abnormally decreased number of myeloid cell", - "great vessel of heart", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "Abnormal myeloid cell morphology", - "embryo", - "abnormal blood cell", - "abnormal cellular process", - "secretory cell", - "decreased length of manual digit", - "Short digit", - "Short finger", - "Short thumb", - "Abnormality of cardiovascular system morphology", - "vasculature of trunk", - "heart plus pericardium", - "interatrial septum", - "abnormal biological_process in central nervous system", - "primary circulatory organ", - "thoracic cavity element", - "eye", - "Functional abnormality of the middle ear", - "compound organ", - "cardiovascular system", - "abnormal cardiac atrium morphology", - "Abnormality of speech or vocalization", - "skeleton of pectoral complex", - "axial skeleton plus cranial skeleton", - "Growth delay", - "kidney", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormality of anatomical entity physiology", - "abnormally fused manual digit and manual digit", - "anatomical entity atresia", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "abnormality of nervous system physiology", - "response to stimulus", - "sperm", - "Delayed speech and language development", - "Abnormality of limbs", - "Atypical behavior", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "biological_process", - "secretion by cell", - "abnormal nervous system", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "digit 1 or 5", - "abnormal interatrial septum morphology", - "abnormal digit", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "abnormal blood cell morphology", - "pectoral appendage skeleton", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "umbilical cord", - "autopodial skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "haemolymphatic fluid", - "digit plus metapodial segment", - "abnormal digit morphology", - "abnormal manus", - "digit", - "Hyperpigmentation of the skin", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal ureter", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "nitrogen compound transport", - "aplastic anatomical entity", - "decreased length of manual digit 1", - "anterior region of body", - "Absent thumb", - "abnormal ear", - "increased qualitatively inflammatory response in independent continuant", - "abnormal autopod region morphology", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "Sacrococcygeal pilonidal abnormality", - "decreased size of the external ear", - "Language impairment", - "agenesis of anatomical entity", - "abnormal role blood level", - "Conductive hearing impairment", - "abnormal anatomical entity morphology in the manus", - "acropodium region", - "skeleton of manus", - "abnormal platelet morphology", - "digit 1", - "Vesicoureteral reflux", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "Abnormal cardiac septum morphology", - "subdivision of skeleton", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Decreased body weight", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "pair of lungs", - "zeugopod", - "skeletal element", - "subdivision of head", - "appendage girdle complex", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "appendicular skeleton", - "upper limb segment", - "anucleate cell", - "cardiac septum", - "pectoral complex", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "abnormal forelimb zeugopod bone", - "limb", - "Finger syndactyly", - "cell", - "Anemia", - "Abnormality of the hand", - "radius bone", - "arm", - "subdivision of skeletal system", - "entity", - "Abnormal vascular morphology", - "abnormal arm", - "head", - "Forearm undergrowth", - "Abnormal appendicular skeleton morphology", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "behavior", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "organ system subdivision", - "aplasia or hypoplasia of manual digit 1", - "system", - "appendicular skeletal system", - "anatomical system", - "arterial system", - "abnormal sensory perception", - "aplasia or hypoplasia of ear", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Respiratory tract infection", - "absent digit", - "inflammatory response", - "phenotype", - "skeletal system", - "Abnormal endocrine morphology", - "motile cell", - "abnormal cellular metabolic process", - "musculoskeletal system", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "platelet", - "absent sperm in the independent continuant", - "pelvic region element", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "endoderm-derived structure", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "embryo development", - "diencephalon", - "abnormal radius bone morphology", - "Hypoplasia of the radius", - "paired limb/fin", - "Aplasia/hypoplasia involving the skeleton", - "abnormal umbilical cord", - "structure with developmental contribution from neural crest", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "ectoderm-derived structure", - "multi-limb segment region", - "abnormal endocrine system morphology", - "sensory system", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "external ear hypoplasia", - "vessel", - "lateral structure", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "increased biological_process in lung", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "abnormal head morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "abnormal limb bone morphology", - "abnormally fused manual digit and anatomical entity", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "craniocervical region", - "biogenic amine secreting cell", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "blood", - "abnormal pigmentation in independent continuant", - "multicellular organismal reproductive process", - "abnormal head", - "systemic arterial system", - "entire sense organ system", - "continuant", - "hormone secretion", - "endocrine system", - "forelimb skeleton", - "decreased qualitatively reproductive process", - "genitourinary system", - "Microtia", - "phenotype by ontology source", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "bone marrow", - "Abnormal cardiac atrium morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "abnormality of endocrine system physiology", - "non-connected functional system", - "embryonic cardiovascular system", - "organism subdivision", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively biological_process in independent continuant", - "Neoplasm", - "Abnormal intestine morphology", - "protein-DNA complex organization", - "vestibulo-auditory system", - "hematopoietic cell", - "behavior process", - "abnormal upper urinary tract", - "Limb undergrowth", - "decreased secretion in pituitary gland", - "Aplasia/Hypoplasia of the thumb", - "Abnormal communication", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "All", - "anatomical collection", - "increased qualitatively biological_process", - "manus", - "negative regulation of cellular process", - "abnormal limb", - "abnormally fused manual digit 2 and anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "small intestine", - "main body axis", - "arterial blood vessel", - "decreased spermatogenesis", - "decreased size of the anatomical entity in the independent continuant", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "abnormal ear morphology", - "umbilical blood vessel", - "abnormal heart morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "thoracic segment organ", - "Neurodevelopmental abnormality", - "regulation of gene expression", - "respiratory system", - "pectoral appendage", - "subdivision of organism along appendicular axis", - "establishment of localization", - "cell-cell signaling", - "Abnormal male reproductive system physiology", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "abnormal reproductive system morphology", - "decreased qualitatively growth", - "Abnormal inflammatory response", - "abnormally decreased number of hematopoietic cell", - "abnormal phenotype by ontology source", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "body proper", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "material anatomical entity", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Patent ductus arteriosus", - "Abnormal pinna morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal bone of pectoral complex morphology", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "absent anatomical entity in the limb", - "Abnormal long bone morphology", - "absent sperm in the semen", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "Microphthalmia", - "abnormal external ear morphology", - "postcranial axial skeleton", - "decreased qualitatively developmental process", - "forelimb zeugopod bone hypoplasia", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod", - "abnormal testis morphology", - "abnormal size of anatomical entity", - "Abnormal renal morphology", - "abnormal external genitalia", - "respiration organ", - "Sacral dimple", - "segment of autopod", - "Abnormal fetal morphology", - "abnormal intestine morphology", - "independent continuant", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "decreased length of anatomical entity in independent continuant", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "forelimb bone", - "anatomical entity hypoplasia", - "appendage", - "root", - "internal genitalia", - "abnormal behavior", - "radius endochondral element", - "Aplasia/Hypoplasia of the ear", - "Azoospermia", - "mesoderm-derived structure", - "skeleton", - "male gamete generation", - "abnormal neuroendocrine gland morphology", - "endochondral element", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "Polyhydramnios", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal gamete generation", - "leukocyte", - "abnormally decreased number of anatomical entity in the blood", - "ear", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "paired limb/fin skeleton", - "Short forearm", - "subdivision of digestive tract", - "penis hypoplasia", - "limb endochondral element", - "abnormal amniotic fluid", - "zeugopodial skeleton", - "limb long bone", - "eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "bone of appendage girdle complex", - "serotonin secreting cell", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "Abnormality of limb bone morphology", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "reproductive system", - "sacral region", - "Abnormal testis morphology", - "abnormal integument", - "abnormal role bodily fluid level", - "dorsum", - "testis", - "Skin dimple", - "abnormal fused sacrum morphology", - "2-3 finger syndactyly", - "biological regulation", - "abdominal segment of trunk", - "bone of dorsum", - "abdominal segment element", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ductus arteriosus", - "abnormal opening of the anatomical entity", - "dorsal region element", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "macromolecule metabolic process", - "pelvic region of trunk", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of the integument", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "face", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "manual digit 2, 3 or 4", - "Fetal anomaly", - "Abnormality of skin morphology", - "integumental system", - "abnormal gland morphology", - "middle ear", - "integument", - "abnormal craniocervical region", - "sacral region of vertebral column", - "organism", - "irregular bone", - "fused sacrum", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "bony pelvis", - "Growth abnormality", - "abnormal adenohypophysis", - "axial skeletal system", - "reproductive gland", - "abnormal skull morphology", - "Short long bone", - "reproductive organ", - "decreased developmental process", - "absent manual digit", - "subdivision of vertebral column", - "Abnormality of the gastrointestinal tract", - "vertebral column", - "abnormally fused anatomical entity and manual digit 3", - "telencephalon", - "bone element hypoplasia in independent continuant", - "germ line cell", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "Leukopenia", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal hematopoietic system", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "heart blood vessel", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "eukaryotic cell", - "hemolymphoid system", - "increased inflammatory response in lung", - "nucleate cell", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "Abnormal upper limb bone morphology", - "skin of body", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "external genitalia", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal immune system", - "abnormally decreased number of cell", - "abnormal cardiac septum morphology", - "organism substance", - "immune system", - "nucleobase-containing compound metabolic process", - "abnormally decreased number of leukocyte in the blood", - "cavitated compound organ", - "Abnormal leukocyte count", - "intestine", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "hormone transport", - "abnormal number of anatomical enitites of type platelet", - "abnormal brain morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "forelimb", - "Abnormal forebrain morphology", - "bodily fluid", - "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal skull morphology", - "regional part of nervous system", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "abnormal duodenum morphology", - "hypothalamus-pituitary axis", - "signaling", - "abnormal anatomical entity morphology in the heart", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "vasculature", - "duodenum atresia", - "external ear", - "abnormal telencephalon morphology", - "Abnormalities of placenta or umbilical cord", - "amide transport", - "forelimb long bone", - "abnormal size of skull", - "Eumetazoa", - "Abnormal umbilical cord blood vessel morphology", - "negative regulation of cellular metabolic process", - "Eukaryota", - "abnormal central nervous system morphology", - "abnormal forebrain morphology", - "abnormal nervous system morphology", - "forebrain", - "blood cell", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "decreased biological_process in pituitary gland", - "endocrine gland", - "cranial skeletal system", - "Decreased head circumference", - "Cafe-au-lait spot", - "Hypermelanotic macule", - "late embryo", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "reproduction", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "manual digit 2 plus metapodial segment", - "reproductive structure", - "changed biological_process rate", - "increased biological_process in skin of body", - "Abnormal response to endocrine stimulation test", - "absent germ cell", - "abnormal external ear", - "increased biological_process", - "digit 2, 3 or 4", - "Specific learning disability", - "Abnormality of the anterior pituitary", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal appendicular skeleton morphology", - "male organism", - "Irregular hyperpigmentation", - "increased pigmentation in independent continuant", - "placenta", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal duodenum morphology", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "organ part", - "defense response", - "subdivision of tube", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "Duodenal atresia", - "Neoplasm by anatomical site", - "respiratory tract", - "alimentary part of gastrointestinal system atresia", - "arm bone", - "Intestinal atresia", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "penis", - "digestive system element", - "abnormal alimentary part of gastrointestinal system", - "Morphological abnormality of the gastrointestinal tract", - "Abnormality of body height", - "tube", - "abnormal hormone independent continuant level", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "duodenum", - "intestine atresia", - "Abnormal placenta morphology", - "digestive tract", - "Abnormal small intestine morphology", - "abnormal digestive system", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "limb segment", - "absent sperm", - "Abnormal lung morphology", - "cellular organisms", - "obsolete multicellular organism reproduction", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "extraembryonic structure", - "gamete", - "Abnormality of reproductive system physiology", - "artery", - "germ cell", - "abnormal internal genitalia", - "Abnormality of the genital system", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "Abnormal fetal cardiovascular morphology", - "Cryptorchidism", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "changed biological_process rate in brain", - "haploid cell", - "Abnormality of the outer ear", - "abnormal gamete", - "abnormal male reproductive system", - "semen", - "Abnormal external genitalia", - "abnormally localised anatomical entity in independent continuant", - "male gamete", - "male germ cell", - "Abnormal respiratory system morphology", - "upper urinary tract", - "decreased length of digit", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "internal male genitalia", - "growth hormone secretion", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "absent gamete", - "abnormally localised anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "sexual reproduction", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Non-obstructive azoospermia", - "reproductive process", - "negative regulation of metabolic process", - "decreased growth hormone secretion", - "manual digit 1 or 5", - "abdominal segment bone", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "amniotic fluid", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "cardiac atrium", - "abnormal incomplete closing of the interatrial septum", - "export from cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "viscus", - "circulatory organ", - "bone marrow cell", - "circulatory system", - "paired limb/fin segment", - "septum", - "Abnormality of the bladder", - "abnormality of reproductive system physiology", - "Abnormal heart morphology", - ], - "has_phenotype_count": 34, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0044325", - "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", - "full_name": None, - "deprecated": None, - "description": None, - "xref": ["OMIM:617784", "UMLS:C4521564"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002984", - "HP:0009777", - "HP:0000252", - "HP:0002247", - "HP:0002863", - "HP:0001510", - "HP:0002119", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Microcephaly", - "Duodenal atresia", - "Myelodysplasia", - "Growth delay", - "Ventriculomegaly", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology", - ], - "has_phenotype_closure": [ - "UPHENO:0076779", - "HP:0000079", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0075182", - "HP:0008678", - "HP:0010935", - "UPHENO:0081210", - "UBERON:0003103", - "HP:0000077", - "UBERON:0001008", - "UPHENO:0081786", - "HP:0000089", - "UBERON:0001444", - "HP:0011800", - "UPHENO:0087472", - "UBERON:0001456", - "UBERON:0004089", - "UPHENO:0081227", - "UBERON:0000064", - "UPHENO:0002764", - "HP:0009121", - "HP:0011100", - "NCBITaxon:131567", - "UPHENO:0076723", - "UBERON:0004092", - "HP:0012639", - "BFO:0000002", - "UBERON:0002028", - "HP:0002011", - "UBERON:0006558", - "GO:0071705", - "HP:0040195", - "UBERON:0000073", - "HP:0000929", - "RO:0002577", - "UPHENO:0076805", - "UBERON:0011138", - "UBERON:0002513", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33208", - "UPHENO:0076692", - "NCBITaxon:1", - "UPHENO:0087907", - "HP:0006501", - "HP:0000152", - "UBERON:0019261", - "UPHENO:0080325", - "UBERON:0015203", - "NCBITaxon:2759", - "UBERON:5001463", 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"HP:0012443", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002616", - "UPHENO:0076790", - "UBERON:0015021", - "HP:0010662", - "UBERON:0004765", - "HP:0031689", - "HP:0006503", - "UPHENO:0020013", - "UBERON:5002389", - "UPHENO:0075995", - "PR:000050567", - "UBERON:0010741", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "GO:0009987", - "UBERON:0001017", - "UPHENO:0081547", - "UBERON:0002049", - "UBERON:0001016", - "UBERON:0011137", - "UBERON:0004111", - "UPHENO:0080377", - "UPHENO:0076740", - "UBERON:0007272", - "UPHENO:0031839", - "HP:0410049", - "UBERON:0005944", - "UBERON:0034925", - "HP:0002308", - "UPHENO:0084761", - "UBERON:5006048", - "UBERON:0003133", - "HP:0003026", - "UBERON:0004708", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0002910", - "GO:0046879", - "HP:0100547", - "UPHENO:0084763", - "HP:0000707", - "UPHENO:0081204", - "GO:0065008", - "UPHENO:0086172", - 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"HP:0000924", - "GO:0007275", - "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0051804", - "UPHENO:0052778", - "UPHENO:0080220", - "HP:0002715", - "UPHENO:0069110", - "UPHENO:0014240", - "UBERON:0002106", - "HP:0040068", - "UPHENO:0002708", - "HP:0100763", - "UPHENO:0081466", - "CL:0002092", - "UPHENO:0087339", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:8600018", - "HP:0031072", - "UPHENO:0075774", - "UPHENO:0001005", - "HP:0000824", - "UPHENO:0002819", - "HP:0001626", - "UBERON:0011249", - "UPHENO:0087267", - "HP:0025408", - "CL:0000988", - "UPHENO:0056059", - "UBERON:0006314", - "UPHENO:0087123", - "UBERON:0001009", - "UBERON:0004177", - "HP:0006265", - "HP:0009799", - "UPHENO:0002948", - "HP:0012210", - "UBERON:0008962", - "UBERON:0001463", - "GO:0071702", - "UBERON:0000916", - "HP:0001511", - "UBERON:0002417", - "UPHENO:0002536", - "GO:0032940", - "GO:0030072", - "UBERON:0005173", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "HP:0001743", - "GO:0006810", - "UBERON:0005057", - "UPHENO:0073937", - "UBERON:0005177", - "UPHENO:0014335", - "UPHENO:0077872", - "UBERON:0000007", - "UPHENO:0080221", - "HP:0032367", - "HP:0002012", - "GO:0007267", - "UPHENO:0002332", - "UBERON:0003466", - "UBERON:0000949", - "UPHENO:0046284", - "UBERON:0003937", - "UBERON:0005156", - "UPHENO:0080588", - "UBERON:0002386", - "UPHENO:0077887", - "UPHENO:0005652", - "HP:0012503", - "GO:0051179", - "UPHENO:0075220", - "UPHENO:0081628", - "UPHENO:0051668", - "UPHENO:0087355", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0083689", - "GO:0007154", - "HP:0031071", - "UBERON:0011299", - "UPHENO:0049587", - "BFO:0000015", - "HP:0011747", - "UPHENO:0042775", - "UBERON:0034923", - "UPHENO:0086735", - "GO:0010817", - "UPHENO:0080126", - "UPHENO:0049927", - "UBERON:0015204", - "UPHENO:0087376", - "GO:0050789", - "UBERON:0002196", - "UPHENO:0046540", - "UBERON:0001894", - "HP:0025461", - "UPHENO:0051763", - "UPHENO:0083951", - "UPHENO:0075772", - "HP:0000818", - "UPHENO:0087516", - "UBERON:0010712", - "UPHENO:0076289", - "UPHENO:0076286", - "HP:0040075", - "GO:0046903", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0077890", - "GO:0030252", - "UBERON:0004122", - "UPHENO:0077889", - "UPHENO:0076287", - "CHEBI:24431", - "HP:0010993", - "UPHENO:0076735", - "GO:0015833", - "UBERON:0002316", - "GO:0002790", - "UPHENO:0076953", - "HP:0002180", - "UBERON:0000454", - "UBERON:0019221", - "HP:0002438", - "HP:0002518", - "HP:0000240", - "UPHENO:0086635", - "UBERON:0003544", - "UPHENO:0088186", - "UBERON:0005162", - "NCBITaxon:6072", - "UPHENO:0021803", - "UBERON:0000063", - "UBERON:0011216", - "HP:0011024", - "HP:0001317", - "UPHENO:0072814", - "UBERON:0004732", - "NCBITaxon:33154", - "UPHENO:0071309", - "UPHENO:0081601", - "UBERON:0002204", - "HP:0011282", - "CL:0000763", - "CL:0000000", - "HP:0025033", - "UPHENO:0088145", - "UBERON:0002371", - "HP:0025354", - ], - "has_phenotype_closure_label": [ - "Abnormal radial ray morphology", - "Abnormality of the genitourinary system", - "Renal hypoplasia", - "abnormal kidney morphology", - "cavitated compound organ", - "abnormal renal system", - "Abnormal renal morphology", - "compound organ", - "decreased size of the kidney", - "Abnormality of the kidney", - "abnormal kidney", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "Abnormality of the upper urinary tract", - "renal system", - "genitourinary system", - "excretory system", - "abnormal face morphology", - "Abnormality of the face", - "anatomical entity hypoplasia in face", - "Midface retrusion", - "abnormal midface morphology", - "abnormal face", - "localization", - "Abnormal duodenum morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "Decreased head circumference", - "organism", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "root", - "appendage", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormal diencephalon", - "abnormal forebrain morphology", - "secretion", - "Eumetazoa", - "Eukaryota", - "tissue", - "craniocervical region", - "regional part of brain", - "Abnormality of brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the cardiovascular system", - "Abnormal midface morphology", - "regional part of nervous system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "main body axis", - "forelimb zeugopod bone", - "nervous system", - "abdominal viscera", - "Abnormality of the head", - "abnormal secretion in independent continuant", - "cellular organisms", - "abnormal digit", - "Metazoa", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "absent anatomical entity in the independent continuant", - "abnormal manus morphology", - "pectoral appendage skeleton", - "Finger aplasia", - "autopodial skeleton", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "haemolymphatic fluid", - "digit plus metapodial segment", - "abnormal digit morphology", - "abnormal manus", - "telencephalon", - "abnormal nervous system", - "secretion by cell", - "digit", - "abnormal hormone blood level", - "abnormal manual digit 1 morphology", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", + "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", - "abnormal skeletal system morphology", - "abnormal biological_process in central nervous system", - "Abnormal digit morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "anterior region of body", - "Absent thumb", - "abnormal autopod region morphology", - "Hematological neoplasm", - "agenesis of anatomical entity", + "gamete generation", + "abnormally decreased number of cell in the independent continuant", + "abnormal neutrophil", "ectoderm-derived structure", - "subdivision of organism along main body axis", - "small intestine", - "Abnormal endocrine morphology", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "cerebral subcortex", - "acropodium region", - "bone marrow", - "skeleton of manus", - "digit 1", - "Gastrointestinal atresia", - "anatomical system", - "digit 1 or 5", - "segmental subdivision of hindbrain", - "segment of autopod", - "multicellular organism development", - "reproductive system", - "aplastic manual digit 1", - "abnormal intestine morphology", - "bone cell", - "megakaryocyte", + "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 growth", - "cerebral hemisphere", - "abnormal size of anatomical entity", - "material anatomical entity", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "mesoderm-derived structure", - "anatomical collection", - "All", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal nervous system morphology", + "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", - "bone element", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "Chiari malformation", - "Abnormal cerebral subcortex morphology", - "Abnormal morphology of the radius", - "multi-limb segment region", - "Forearm undergrowth", - "blood", - "skeletal element", - "zeugopod", - "body proper", - "manual digit", - "Leukoencephalopathy", - "pectoral appendage", - "central nervous system", - "Abnormality of limb bone", - "head", - "increased size of the anatomical entity", - "limb", - "cell", - "abnormal appendicular skeleton morphology", - "Abnormality of skull size", - "pectoral complex", - "trunk region element", - "decreased developmental process", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "subdivision of digestive tract", - "delayed biological_process", - "regulation of hormone levels", - "limb endochondral element", - "Abnormality of head or neck", - "hemopoietic organ", - "long bone", - "material entity", - "Abnormal appendicular skeleton morphology", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "Aplasia/hypoplasia of the extremities", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "musculoskeletal system", - "absent digit", - "organic substance transport", - "abnormal brain white matter morphology", - "Abnormal hindbrain morphology", - "phenotype", - "brain ventricle/choroid plexus", - "peptide transport", - "Abnormal cell morphology", - "anatomical entity hypoplasia", - "forelimb bone", - "hormone secretion", - "endocrine system", - "forelimb skeleton", - "abnormal localization", - "abnormal duodenum morphology", - "forelimb endochondral element", - "abnormal axial skeleton plus cranial skeleton morphology", - "Opisthokonta", - "lymphoid system", - "skeleton of limb", - "Abnormality of the hypothalamus-pituitary axis", + "Abnormal nervous system morphology", "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the lymphatic system", - "limb bone", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "continuant", - "lateral structure", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "viscus", "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "skeleton", - "abnormal cerebellum morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "forelimb zeugopod", - "anatomical structure development", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "digitopodium region", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "subdivision of organism along appendicular axis", - "abnormal growth hormone secretion", - "Abnormality of the vasculature", - "abnormal central nervous system morphology", - "skull", - "limb skeleton subdivision", - "Upper limb undergrowth", - "abnormal forelimb zeugopod bone", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "postcranial axial skeleton", - "decreased qualitatively developmental process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "immune organ", - "abnormal phenotype by ontology source", - "absent manual digit", - "duodenum atresia", - "vasculature", - "abnormal hemopoietic organ morphology", - "organ system subdivision", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Hypopituitarism", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "aplasia or hypoplasia of manual digit 1", - "system", - "appendicular skeletal system", - "abnormal spleen morphology", - "abnormal chemical entity level", - "absent anatomical entity in the multicellular organism", - "multicellular organism", - "hematopoietic system", - "Abnormal growth hormone level", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "anatomical wall", + "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", - "cerebellum", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", "decreased biological_process", - "radius bone hypoplasia", "aplasia or hypoplasia of anatomical entity", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "abnormally formed cerebellum", - "Abnormal forearm bone morphology", - "abnormal metencephalon morphology", - "Abnormality of the skeletal system", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "pituitary gland", - "abnormal nervous system morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal cell morphology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "abnormally increased number of anatomical entity in the abdomen", - "abnormal arm", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "Neurodegeneration", - "multicellular organismal process", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "organ", - "occurrent", - "glandular system", - "skeletal system", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal head", - "arm", - "limb segment", - "adenohypophysis", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal development of anatomical entity", - "subdivision of trunk", - "Abnormal thumb morphology", - "phenotype by ontology source", - "abnormal endocrine gland morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal upper limb bone morphology", - "quality", - "decreased biological_process in multicellular organism", - "manual digit 1", - "autopodial extension", - "organ part", - "subdivision of tube", - "reproductive organ", - "abnormal skull morphology", - "Short long bone", - "reproductive gland", - "Abnormality of the upper limb", - "Duodenal atresia", - "Neoplasm by anatomical site", - "alimentary part of gastrointestinal system atresia", - "abnormal cerebral hemisphere morphology", - "arm bone", - "Intestinal atresia", - "Abnormality of the gastrointestinal tract", - "Abnormality of the digestive system", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digestive system element", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "Morphological abnormality of the gastrointestinal tract", - "abnormal gland morphology", - "tube", - "abnormal hormone independent continuant level", - "brain white matter", - "abnormal developmental process", - "intestine", - "upper urinary tract", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "duodenum", - "intestine atresia", - "Abnormal endocrine physiology", - "digestive tract", - "Neoplasm", - "decreased qualitatively biological_process in independent continuant", - "Abnormal intestine morphology", - "regulation of biological quality", - "Abnormal pituitary gland morphology", - "abnormal cerebral subcortex morphology", - "midface hypoplasia", - "Abnormal small intestine morphology", - "abnormal digestive system", - "metencephalon", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system", - "hemolymphoid system", - "Myelodysplasia", - "cell communication", - "biological_process", - "process", - "delayed growth", - "axial skeletal system", - "abnormal adenohypophysis", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "kidney", - "Growth delay", - "abnormal biological_process", - "abnormal role bodily fluid level", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "increased size of the brain ventricle", - "increased size of the anatomical entity in independent continuant", + "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", - "organ component layer", - "ventricular system of central nervous system", - "paired limb/fin segment", - "Ventriculomegaly", - "abnormal brain ventricle morphology", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased length of forelimb zeugopod bone", - "brain ventricle", - "changed biological_process rate", - "abnormal embryo development", - "anatomical entity", - "decreased qualitatively biological_process", - "decreased embryo development", - "spleen", - "Abnormality of the immune system", - "vascular system", - "lymphatic part of lymphoid system", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal vasculature", - "Polysplenia", - "anatomical cluster", - "manual digit 1 plus metapodial segment", - "abdomen", - "abdominal segment element", - "viscus", - "Supernumerary spleens", - "transport", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal hindbrain morphology", - "gland", - "abnormal cell", - "disconnected anatomical group", - "abnormally increased number of anatomical entity", - "white matter of telencephalon", - "bone marrow cell", - "circulatory system", - "immune system", - "Abnormal spleen morphology", - "chemical entity", - "cardiovascular system", - "abnormal lymphatic part of lymphoid system", - "peptide secretion", - "abnormal spleen", - "central nervous system cell part cluster", + "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", - "Abnormality of the abdominal organs", - "anatomical conduit", - "abnormal limb morphology", - "Abnormality of the spleen", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "changed biological_process rate in brain", - "abnormally increased number of spleen", - "abnormal transport", - "abnormally increased number of anatomical entity in the independent continuant", - "Anterior hypopituitarism", - "peptide hormone secretion", - "neuroendocrine system", - "absent anatomical entity", - "decreased biological_process in independent continuant", - "abnormal bone marrow morphology", - "abnormal hypothalamus-pituitary axis", - "Abnormal metencephalon morphology", - "non-connected functional system", - "abnormality of endocrine system physiology", - "Decreased response to growth hormone stimulation test", - "regulation of biological process", - "signaling", - "hypothalamus-pituitary axis", - "malformed anatomical entity", - "aplastic anatomical entity", - "nitrogen compound transport", - "Abnormal cerebral white matter morphology", - "Abnormal response to endocrine stimulation test", + "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", - "Abnormality of the endocrine system", - "abnormal cellular process", - "hindbrain", - "abnormal endocrine system", - "multi-tissue structure", - "bodily fluid", - "abnormal diencephalon morphology", - "ventricle of nervous system", - "abnormal role independent continuant level", + "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", - "Abnormality of the anterior pituitary", "abnormal biological_process in independent continuant", - "Abnormality of the diencephalon", + "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", - "gland of diencephalon", - "abnormal pituitary gland morphology", - "abnormal size of brain ventricle", - "abnormal secretion by cell", - "decreased biological_process in brain", - "abnormal independent continuant chemical entity level", + "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", - "decreased growth hormone secretion", - "abnormal endocrine system morphology", - "decreased secretion in independent continuant", - "abnormal bone of pectoral complex morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal anatomical entity morphology in the manus", - "abnormal role blood level", - "reproductive structure", - "neuroendocrine gland", - "Abnormal circulating hormone concentration", - "endochondral element", - "abnormal neuroendocrine gland morphology", - "abnormal cardiovascular system", - "export from cell", - "signal release", - "abnormal brain morphology", - "hormone transport", - "endocrine gland", - "cranial skeletal system", - "decreased biological_process in pituitary gland", - "abdominal segment of trunk", - "biological regulation", + "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", - "amide transport", - "abnormal multicellular organism chemical entity level", - "Aplasia/Hypoplasia of the thumb", - "decreased secretion in pituitary gland", - "hematopoietic cell", - "growth hormone secretion", - "anatomical entity degeneration in independent continuant", - "establishment of localization", - "cell-cell signaling", - "Abnormal periventricular white matter morphology", - "multi cell part structure", - "cellular process", - "cerebral hemisphere white matter", - "subdivision of head", - "appendage girdle complex", - "abnormal megakaryocyte morphology", - "forebrain", - "white matter of forebrain", - "midface", - "white matter", - "diencephalon", + "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", - "embryo development", - "cerebral hemisphere white matter degeneration", - "abnormal cerebral hemisphere white matter morphology", - "anatomical entity degeneration", - "Abnormal finger morphology", - "Atrophy/Degeneration affecting the central nervous system", - "decreased length of long bone", - "digestive system", - "Cerebellar malformation", - "organ subunit", - "segmental subdivision of nervous system", - "abnormally formed anatomical entity in independent continuant", - "abnormally formed anatomical entity", - "myeloid cell", - "Megakaryocyte dysplasia", - "Abnormal megakaryocyte morphology", - "trunk", - "abnormal bone marrow cell", + "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": 16, + "has_phenotype_count": 32, "highlight": None, "score": None, }, { - "id": "MONDO:0013248", + "id": "MONDO:0013566", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia complementation group L", "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 FANCL gene.", + "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], "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", + "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": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ "HP:0040012", - "HP:0002984", + "HP:0007018", + "HP:0000470", + "HP:0008551", "HP:0009777", - "HP:0001627", - "HP:0001245", - "HP:0002023", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", - "HP:0004322", - "HP:0003774", - "HP:0025023", + "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", - "Hypoplasia of the radius", + "Attention deficit hyperactivity disorder", + "Short neck", + "Microtia", "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Stage 5 chronic kidney disease", - "Rectal 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", 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"UPHENO:0087346", - "HP:0009777", - "UBERON:0004921", - "UBERON:0000160", - "HP:0002034", - "UPHENO:0002725", - "HP:0012718", - "HP:0025023", + "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": [ - "rectum atresia", - "abnormal rectum", - "Abnormal intestine morphology", - "lower digestive tract", - "intestine", - "rectum", - "internal anal region", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", + "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", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "subdivision of tube", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "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", - "Rectal atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Chronic kidney disease", - "Abnormal renal physiology", - "Renal insufficiency", - "Abnormality of the urinary system physiology", - "Intestinal atresia", - "non-functional kidney", + "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", - "decreased height of the anatomical entity", + "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", - "decreased size of the multicellular organism", - "Abnormality of body height", - "Renal cyst", - "deviation of manual digit", - "intestine atresia", - "Proximal placement of thumb", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "Short finger", - "developmental process", - "reproductive process", - "abnormally localised testis", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "developmental process involved in reproduction", - "abnormally localised anatomical entity", - "abnormal reproductive system", - "absent gamete", - "sperm", - "male organism", - "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "testis", - "internal male genitalia", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "male germ cell", - "abnormality of multicellular organism height", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", + "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", - "semen", - "abnormal male reproductive system", - "male reproductive system", - "reproduction", + "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 developmental process involved in reproduction", - "decreased developmental process", - "reproductive organ", - "spermatogenesis", - "gamete generation", - "absent anatomical entity in the semen", - "abnormal gamete", - "abnormal number of anatomical enitites of type cell", - "external genitalia", - "internal genitalia", - "gonad", - "Abnormality of the genital system", - "abnormal internal genitalia", - "germ cell", - "Abnormality of reproductive system physiology", - "gamete", - "obsolete multicellular organism reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", + "abnormal location of ear", + "abnormal ocular adnexa", + "abnormal anatomical entity topology in independent continuant", + "Decreased external ear position", + "external nose", "changed biological_process rate", - "absent germ cell", - "abnormal renal system morphology", - "Abnormality of prenatal development or birth", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "kidney", - "sexual reproduction", - "abnormal genitourinary system", - "increased size of the renal pelvis", - "late embryo", - "abnormal renal system", - "Abnormal renal morphology", - "embryo", - "renal pelvis", - "Abnormality of the kidney", - "renal pelvis/ureter", - "disconnected anatomical group", - "abdominal segment of trunk", - "abdomen", - "decreased length of digit", - "anatomical cluster", - "Abnormality of the upper urinary tract", - "renal system", - "Abnormal fetal genitourinary system morphology", - "organ part", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", "increased size of the anatomical entity in independent continuant", - "Abnormal fetal morphology", - "Abnormal renal pelvis morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "abnormal renal pelvis", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", + "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 digestive system", - "deviation of manual digit 1", - "digestive tract", - "multicellular organismal reproductive process", - "anatomical conduit", - "anus", - "abnormal digestive system morphology", - "Neoplasm by anatomical site", - "digestive system", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "musculature of upper limb", - "haploid cell", - "appendage musculature", - "musculature of body", - "Abnormality of the musculature of the upper limbs", - "cavitated compound organ", - "abnormal musculature of upper limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature of the hand", - "germ line cell", - "thenar eminence hypoplasia", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "abnormal musculature of limb", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "musculature of manus", - "abnormal musculature", - "abnormal heart morphology", - "Cryptorchidism", - "heart plus pericardium", - "Abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Fetal ultrasound soft marker", - "excretory system", - "circulatory system", - "body proper", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", "limb endochondral element", - "subdivision of digestive tract", - "delayed biological_process", - "Short forearm", - "increased size of the anatomical entity", - "abnormal limb bone", - "limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal appendicular skeleton morphology", - "endochondral element", - "pectoral appendage", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "abnormal long bone morphology", - "forelimb zeugopod bone hypoplasia", - "anatomical entity hypoplasia in independent continuant", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "Abnormality of the musculoskeletal system", - "Limb undergrowth", + "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", - "structure with developmental contribution from neural crest", - "long bone", - "abnormal testis morphology", - "forelimb zeugopod", - "male reproductive organ", - "cellular component organization or biogenesis", - "multicellular anatomical structure", - "forelimb endochondral element", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "musculature of limb", + "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": 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", "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: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: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", + "UBERON:0010000", + "UBERON:0002390", + "CL:0000000", + "UPHENO:0054970", + "HP:0025354", + "HP:0005528", + "UPHENO:0005597", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0049587", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0050108", + "UBERON:0001016", + "UPHENO:0080377", + "HP:0001510", + "UPHENO:0005642", + "GO:0032501", + "HP:0001511", + "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", + "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", + ], + "has_phenotype_closure_label": [ + "programmed DNA elimination", + "obsolete cell", + "abnormal metabolic process", "negative regulation of biosynthetic process", - "decreased length of forelimb zeugopod bone", - "orifice", "DNA metabolic process", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "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", - "programmed DNA elimination", - "digit", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "metabolic process", - "multi-limb segment region", - "abnormal cellular process", - "root", - "appendage", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "Abnormal internal genitalia", - "regulation of cellular process", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "abnormal growth", - "independent continuant", - "abnormal intestine morphology", - "aplastic manual digit 1", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "anal region", - "paired limb/fin skeleton", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "Abnormal anus morphology", "protein-DNA complex organization", - "arm", - "abnormal kidney", "Abnormality of chromosome stability", - "abnormal manus", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", "regulation of macromolecule metabolic process", - "acropodium region", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "Deviation of finger", + "regulation of biosynthetic process", "negative regulation of metabolic process", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abdominal segment element", - "abnormal thenar eminence", + "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", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "biological_process", - "Abnormal forearm bone morphology", - "Abnormality of the skeletal system", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "continuant", - "Abnormality of limbs", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "material entity", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "upper limb segment", - "appendicular skeleton", - "subdivision of organism along main body axis", - "abnormal biological_process", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "Abnormal long bone morphology", - "skeleton of limb", - "muscle structure", - "material anatomical entity", - "external male genitalia", + "abnormal organelle organization", + "metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", "chromatin organization", - "pectoral appendage musculature", - "abnormal metabolic process", - "abnormal forelimb zeugopod morphology", + "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", - "Non-obstructive azoospermia", - "biological regulation", - "regulation of cellular biosynthetic process", - "forelimb zeugopod skeleton", + "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", - "regulation of cellular metabolic process", - "abnormality of renal system physiology", - "quality", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal chromatin organization", - "Chromosome breakage", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "bone element", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", "forelimb skeleton", - "Abnormal cellular physiology", - "organic substance metabolic process", - "obsolete nitrogen compound metabolic process", - "abnormal upper urinary tract", - "musculoskeletal system", - "delayed growth", - "abnormal cardiovascular system", - "skeletal system", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased length of long bone", - "primary metabolic process", - "skeletal element", - "zeugopod", - "autopodial extension", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "process", - "nucleic acid metabolic process", - "aplasia or hypoplasia of skeleton", + "limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "bone of appendage girdle complex", + "Abnormality of the hand", "forelimb", - "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal limb bone morphology", - "radius endochondral element", - "Abnormality of digestive system morphology", - "thenar eminence", - "manus", - "abnormal limb", - "compound organ", - "zeugopodial skeleton", - "obsolete cell", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal radius bone morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of the anus", - "organ system subdivision", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "palmar/plantar part of autopod", - "external soft tissue zone", - "Abnormality of limb bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "occurrent", - "organ", - "heart", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "radius bone", - "deviation of anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "Aplasia/hypoplasia involving forearm bones", - "forelimb long bone", - "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "limb", - "cell", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Upper limb undergrowth", + "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", - "trunk region element", - "pectoral complex", - "Opisthokonta", - "paired limb/fin segment", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal skeletal system", - "forelimb zeugopod bone", - "subdivision of skeleton", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "anatomical system", + "delayed biological_process", + "autopod region", "digit 1", "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", + "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", - "cardiovascular system", + "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", - "agenesis of anatomical entity", - "Abnormality of the hand", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", + "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", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "segment of manus", - "cellular process", - "Abnormal digit morphology", - "absent anatomical entity", - "Short thumb", + "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", - "digit 1 plus metapodial segment", - "abnormal digit morphology", - "digit plus metapodial segment", - "Abnormal finger morphology", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Finger aplasia", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "pectoral appendage skeleton", - "abnormal manus morphology", - "primary circulatory organ", - "digit 1 or 5", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", + "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", - "decreased spermatogenesis", - "abnormal kidney 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": 15, + "has_phenotype_count": 8, "highlight": None, "score": None, }, { - "id": "MONDO:0010351", + "id": "MONDO:0012565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group B", + "name": "Fanconi anemia complementation group N", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", - "xref": ["DOID:0111098", "GARD:15257", "MESH:C564497", "NCIT:C125703", "OMIM:300514", "UMLS:C1845292"], + "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": [ - "FA2", - "FACB", - "FANCB", - "Fanconi Anemia, complementation group type B", - "Fanconi anaemia complementation group type B", - "Fanconi anemia complementation group B", - "Fanconi anemia complementation group type B", - "Fanconi anemia, complementation group B", - "Fanconi anemia, complementation group B, X-linked recessive", - "Fanconi pancytopenia type 2", - "Fanconi pancytopenia, type 2", + "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:0002575", - "HP:0001249", - "HP:0000238", - "HP:0000369", - "HP:0002101", - "HP:0000815", - "HP:0002247", + "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", - "HP:0007766", - "HP:0002119", + "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:0001873", - "HP:0001915", - "HP:0001680", - "HP:0002032", - "HP:0003220", - "HP:0001321", - "HP:0002079", - "HP:0000054", - "HP:0000396", - "HP:0003468", - "HP:0000135", - "HP:0004977", - "HP:0001643", - "HP:0001629", - "HP:0001195", - "HP:0002188", - "HP:0001511", - ], - "has_phenotype_label": [ - "Short neck", - "Absent thumb", - "Tracheoesophageal fistula", - "Intellectual disability", - "Hydrocephalus", - "Low-set ears", - "Abnormal lung lobation", - "Hypergonadotropic hypogonadism", - "Duodenal atresia", - "Growth delay", - "Optic disc hypoplasia", - "Ventriculomegaly", - "Renal agenesis", - "Thrombocytopenia", - "Aplastic anemia", - "Coarctation of aorta", - "Esophageal atresia", - "Abnormality of chromosome stability", - "Cerebellar hypoplasia", - "Hypoplasia of the corpus callosum", - "Micropenis", - "Overfolded helix", - "Abnormal vertebral morphology", - "Hypogonadism", - "Bilateral radial aplasia", - "Patent ductus arteriosus", - "Ventricular septal defect", - "Single umbilical artery", - "Delayed CNS myelination", - "Intrauterine growth retardation", - ], - "has_phenotype_closure": [ - "UPHENO:0052778", - "GO:0009790", - "UPHENO:0005433", - "UPHENO:0080393", - "UPHENO:0081436", - "UPHENO:0052178", - "UPHENO:0005642", - "UPHENO:0080382", - "GO:0048709", - "GO:0014003", - "UPHENO:0061854", - "GO:0007399", - "GO:0042552", - "GO:0032291", - "GO:0022008", - "GO:0010001", - "UPHENO:0050121", - "UPHENO:0083951", - "UPHENO:0000553", - "HP:0012447", - "UPHENO:0084012", - "GO:0048468", - "HP:0012448", - "UPHENO:0084007", - "GO:0009987", - "UPHENO:0000552", + "HP:0011355", + "GO:0043473", + "UPHENO:0060026", + "UPHENO:0074589", + "HP:0001000", + "UPHENO:0080662", "UPHENO:0059829", - "HP:0011425", - "HP:0001195", - "GO:0008366", - "UBERON:0000478", - "UBERON:0000323", - "HP:0011403", - "UBERON:0002331", - "UBERON:0000922", - "HP:0010881", - "HP:0010948", - "UPHENO:0075872", - "HP:0034058", - "HP:0001671", - "UBERON:0002094", - "UBERON:0002099", - "UPHENO:0015282", - "UPHENO:0019888", - "UPHENO:0075655", - "HP:0011603", - "UPHENO:0033603", - "UBERON:0011695", - "UPHENO:0076810", - "UPHENO:0086797", - "UBERON:0018674", - "HP:0001627", - "UPHENO:0087309", - "UBERON:0004716", - "UPHENO:0015290", - "UPHENO:0015324", - "UBERON:0006876", - "UBERON:0002201", - "HP:0001194", - "UBERON:0003498", - "HP:0040070", - "UPHENO:0076718", - "HP:0006501", - "UBERON:0010741", - "UPHENO:0026023", - "UBERON:0003460", - "UBERON:0003607", - "UBERON:0001423", - "HP:0009825", - "HP:0003974", - "UBERON:0002082", - "UPHENO:0087501", - "UPHENO:0062515", - "UPHENO:0079872", - "UPHENO:0009341", - "HP:0004977", - "HP:0009822", - "UPHENO:0086956", - "HP:0009823", - "UBERON:0005440", - "UBERON:0002386", - "UPHENO:0076695", - "UPHENO:0076744", - "HP:0003468", - "UPHENO:0062527", - "UPHENO:0086301", - "HP:0000396", - "UBERON:0002488", - "UBERON:0001757", - "HP:0008544", - "HP:0003953", - "UPHENO:0041058", - "UPHENO:0082480", - "UPHENO:0083647", - "UPHENO:0041149", - "UBERON:0008811", - "GO:0042063", - "HP:0000036", - "HP:0000032", - "HP:0008736", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0003135", - "UBERON:0000989", - "UPHENO:0087547", - "UBERON:0003101", - "HP:0012243", - "UPHENO:0050406", - "HP:0000811", - "HP:0000050", - "HP:0000054", - "UPHENO:0087802", - "UPHENO:0087531", - "HP:0012430", - "HP:0033725", - "UBERON:0019261", - "UPHENO:0087518", - "UPHENO:0033604", - "UBERON:0002316", - "UBERON:0001890", - "UBERON:0001893", - "UPHENO:0020888", - "UPHENO:0080200", - "HP:0002079", - "HP:0002500", - "UBERON:0000454", - "UBERON:0002471", - "UBERON:0001869", - "UPHENO:0087032", - "HP:0012429", - "UBERON:0007702", - "UBERON:0001020", - "UPHENO:0087902", - "UPHENO:0081381", - "UPHENO:0087750", - "UPHENO:0087415", - "UPHENO:0076807", - "UBERON:0005340", - "HP:0001273", - "UPHENO:0069144", - "UPHENO:0020013", - "UPHENO:0081601", - "UBERON:0002028", - "UBERON:0001895", - "UPHENO:0080089", - "GO:0007417", - "UBERON:0004176", - "UBERON:0004733", - "UBERON:0004732", - "UPHENO:0081099", - "UPHENO:0076720", - "HP:0007360", - "HP:0011283", - "HP:0001321", - "HP:0001939", + "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", - "HP:0003220", - "UPHENO:0080204", - "GO:0008152", - 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"UPHENO:0024906", - "UPHENO:0018426", - "HP:0000078", - "HP:0002589", - "UPHENO:0076783", - "UBERON:0002090", - "HP:0002247", - "HP:0008058", - "UPHENO:0063639", - "UBERON:0011143", - "UPHENO:0081594", - "UBERON:0002114", + "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:0010461", - "UPHENO:0086621", - "UPHENO:0085070", - "HP:0002244", - "HP:0001510", - "HP:0001507", - "UPHENO:0049874", - "UPHENO:0006910", - "UPHENO:0021037", - "UBERON:5001463", - "UPHENO:0021474", - "UPHENO:0021656", - "UBERON:0000063", - "HP:0008057", - "UPHENO:0076803", - "HP:0000587", - "UPHENO:0081790", - "HP:0000479", - "HP:0002715", - "UPHENO:0002910", - "HP:0000478", - "UBERON:0000073", - "GO:0050890", - "UPHENO:0087614", - "NCBITaxon:1", + "HP:0000086", + "HP:0006503", + "UBERON:0002104", "HP:0008056", - "HP:0007766", - "UPHENO:0087596", - "UBERON:0019294", - "UPHENO:0076791", - "GO:0030324", - "UPHENO:0075183", - "UBERON:0001783", - "UPHENO:0085984", - "UBERON:0002336", - "HP:0025033", - "UBERON:0000966", - "UPHENO:0087355", - "UPHENO:0088186", - "UBERON:0005162", - "UPHENO:0075949", - "UBERON:0000941", - "UPHENO:0003058", - "UBERON:0000025", - "UBERON:0004088", - "HP:0025015", - "UBERON:0000970", - "NCBITaxon:33154", - "HP:0011400", + "UBERON:0010230", "HP:0002060", "HP:0012372", - "UPHENO:0087472", - "HP:0011039", - "UPHENO:0069298", - "UPHENO:0085195", - "UPHENO:0063629", - "UBERON:0034713", - "OBI:0100026", - "UPHENO:0001072", - "HP:0001713", - "UBERON:0001043", - "UBERON:0002048", - "UBERON:0010913", - "UPHENO:0081786", - "UPHENO:0021803", - "UPHENO:0076776", - "NCBITaxon:6072", - "HP:0001098", - "UBERON:0005388", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0020041", "HP:0000271", - "UPHENO:0001440", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0081320", - "UBERON:0001008", - "UPHENO:0015280", - "UPHENO:0075902", - "UBERON:0001981", - "UPHENO:0082875", - "HP:0000104", - "UBERON:0000055", - "UBERON:0000489", - "UPHENO:0002934", - "UPHENO:0002803", - "UBERON:0005172", - "UPHENO:0083952", - "UBERON:8450002", - "UBERON:0000916", - "UBERON:0005173", - "GO:0030154", - "UBERON:0002113", - "UPHENO:0085118", - "UBERON:0015410", - "UBERON:0001690", - "UPHENO:0086173", - "UBERON:0001637", - "UBERON:0002037", + "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:0004537", "UBERON:0000064", "CL:0000081", - "UBERON:0003951", "CL:0000763", - "UPHENO:0085371", - "UBERON:0000079", - "UBERON:0005970", - "HP:0001871", - "UPHENO:0084761", - "HP:0001872", + "CL:0000232", "UBERON:0004375", "HP:0011873", - "CL:0000232", - "UPHENO:0081095", - "UBERON:0010314", - "HP:0001873", - "UBERON:0001018", - "CL:0000458", - "HP:0020047", - "UPHENO:0081466", - "UPHENO:0002903", - "UPHENO:0081783", - "CL:0002092", - "HP:0025354", - "UBERON:0003037", - "CL:0000151", - "UBERON:0002413", - "CL:0000988", + "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:0087339", - "HP:0010987", + "UPHENO:0084761", + "HP:0001872", "HP:0005561", + "HP:0010987", "HP:0011893", - ], - "has_phenotype_closure_label": [ - "decreased developmental process", - "decreased qualitatively developmental process", - "abnormal embryo development", - "changed biological_process rate", - "Intrauterine growth retardation", - "changed embryo development rate", - "Delayed CNS myelination", - "abnormal biological_process in nervous system", - "gliogenesis", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "neurogenesis", - "glial cell differentiation", - "ensheathment of neurons", - "cellular developmental process", - "abnormal myelination in independent continuant", - "abnormal central nervous system myelination in independent continuant", - "delayed central nervous system myelination", - "Delayed myelination", - "Abnormal CNS myelination", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormality of prenatal development or birth", - "decreased embryo development", - "abnormal umbilical blood vessel morphology", - "entire extraembryonic component", - "Abnormality of the umbilical cord", - "Abnormal fetal cardiovascular morphology", - "extraembryonic structure", - "abnormal late embryo", - "Fetal anomaly", - "Abnormal cardiac ventricle morphology", + "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 interventricular septum morphology", - "abnormal incomplete closing of the interventricular septum", "abnormal cardiac ventricle morphology in the independent continuant", - "conceptus", - "abnormal biological_process in central nervous system", - "primary circulatory organ", - "abnormal anatomical entity morphology in the heart", - "heart vasculature", - "thoracic segment blood vessel", - "artery", - "Congenital malformation of the great arteries", - "circulatory organ", - "trunk blood vessel", - "abnormal artery morphology in the independent continuant", - "coronary vessel", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal systemic artery morphology", - "systemic artery", - "vasculature of organ", - "heart plus pericardium", - "vasculature of trunk", - "Aplasia/Hypoplasia of the radius", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "Abnormalities of placenta or umbilical cord", - "forelimb long bone", - "aplastic forelimb zeugopod bone", - "Abnormal morphology of the radius", - "umbilical blood vessel", - "abnormal heart morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "embryo development", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "Aplasia involving bones of the extremities", - "limb long bone", - "radius endochondral element", - "abnormal forelimb zeugopod morphology", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "forelimb zeugopod skeleton", - "Abnormal vertebral morphology", - "Abnormal helix morphology", - "folded anatomical entity in independent continuant", - "folded anatomical entity", - "Abnormally folded helix", - "pinna", - "abnormal helix of outer ear morphology", - "surface feature shape anatomical entity", - "abnormal penis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "external male genitalia", - "intromittent organ", - "Abnormal external genitalia", - "decreased size of the penis", - "abnormal male reproductive system", - "abnormal vertebral column morphology", - "abnormal external male genitalia morphology", - "abnormal penis", - "male reproductive system", - "abnormal reproductive system morphology", - "decreased size of the external male genitalia", - "abnormal cerebral hemisphere morphology", - "white matter of telencephalon", - "abnormal cerebral hemisphere white matter morphology", - "white matter", - "telencephalon", - "abnormal size of corpus callosum", - "abnormal forebrain morphology", - "folded helix of outer ear", - "forebrain", - "white matter of forebrain", - "brain commissure", - "corpus callosum hypoplasia", - "decreased size of the corpus callosum", - "cerebral subcortex", - "Abnormal cerebral subcortex morphology", - "aplasia or hypoplasia of telencephalon", - "Hypoplasia of the corpus callosum", - "Abnormal ventricular septum morphology", - "Abnormal cerebral white matter morphology", - "Abnormal cerebral morphology", - "cellular process", - "cerebral hemisphere white matter", - "intercerebral commissure", - "nervous system commissure", - "Cerebral white matter hypoplasia", - "nervous system development", - "Thin corpus callosum", - "corpus callosum", - "abnormal cerebellum morphology", - "segmental subdivision of nervous system", - "external genitalia", - "cerebellum", - "metencephalon", - "delayed myelination", - "abnormal hindbrain morphology", - "Abnormal metencephalon morphology", - "cerebellum hypoplasia", - "regional part of nervous system", - "forelimb zeugopod", - "Aplasia/Hypoplasia of the cerebellum", - "Cerebellar hypoplasia", - "Abnormality of metabolism/homeostasis", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "metabolic process", - "abnormal vertebra morphology", - "Esophageal atresia", - "esophagus atresia", - "Abnormal blood vessel morphology", - "Abnormality of the vasculature", - "Abnormality of cardiovascular system morphology", - "aortic system", - "cardiovascular system", - "Coarctation of aorta", - "blood vasculature", - "arterial system", - "outflow tract", - "blood vessel", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormality of the cardiovascular system", - "aorta", - "Bilateral radial aplasia", - "abnormal metencephalon morphology", - "abnormal cardiovascular system morphology", - "abnormal aorta morphology", - "thoracic cavity blood vessel", - "helix of outer ear", - "arterial blood vessel", - "Abnormal aortic morphology", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Aplastic anemia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "erythroid lineage cell", - "tissue", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Abnormality of mental function", - "abnormality of nervous system physiology", - "forelimb zeugopod bone", - "nervous system", - "renal system", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "biological_process", - "Abnormal optic nerve morphology", - "nervous system process", - "system process", - "subdivision of digestive tract", + "abnormal interventricular septum morphology", "delayed biological_process", - "Single umbilical artery", - "developing anatomical structure", - "Abnormal location of ears", - "thoracic cavity element", - "Abnormal systemic arterial morphology", - "hematopoietic system", - "respiratory airway", - "nucleate cell", - "abnormal cerebral subcortex morphology", - "respiratory tube", - "abnormal nervous system", - "abnormality of anatomical entity physiology", + "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", - "endoderm-derived structure", + "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", - "proximo-distal subdivision of respiratory tract", - "anatomical structure morphogenesis", - "Abnormality of the digestive system", - "Abnormal esophagus morphology", - "Abnormality of the vertebral column", - "retina", - "thoracic segment of trunk", - "abnormal digit", - "Abnormality of the respiratory system", - "Abnormal tracheobronchial morphology", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal esophagus morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "mesoderm-derived structure", - "abnormality of respiratory system physiology", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "abnormal limb", - "manus", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "appendicular skeleton", - "Abnormal cerebellum morphology", - "upper limb segment", - "limb skeleton subdivision", - "cell differentiation", - "appendicular skeletal system", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "axon ensheathment in central nervous system", + "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", - "absent anatomical entity in the renal system", - "cell", + "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", - "abnormal size of brain ventricle", "bone cell", - "arm", - "head", + "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 appendicular skeleton morphology", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormal retinal morphology", - "Finger aplasia", - "absent kidney in the renal system", - "bone of appendage girdle complex", - "anatomical wall", + "Abnormal morphology of the radius", + "zone of skin", + "forelimb skeleton", "genitourinary system", - "digestive tract", - "vessel", - "lateral structure", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Aplasia/hypoplasia involving bones of the hand", - "decreased size of the optic disc", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal forebrain morphology", - "forelimb", + "forelimb zeugopod", + "decreased size of the anatomical entity in the pectoral complex", "abnormal digestive system", "Abnormality of the cervical spine", "Abnormal skeletal morphology", - "umbilical cord", - "autopodial skeleton", + "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", - "Abnormal ear morphology", - "abnormal autopod region morphology", - "Absent thumb", - "Low-set ears", - "abnormal ear", - "penis hypoplasia", + "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", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "lung lobe formation", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "multicellular organism development", - "reproductive system", + "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", - "Abnormal fetal morphology", - "commissure of telencephalon", - "abnormal intestine morphology", + "segment of autopod", + "organic cyclic compound metabolic process", + "anatomical line between pupils", "independent continuant", "abnormal leukocyte morphology", - "radius bone", - "Abnormality of the hand", - "embryonic cardiovascular system", + "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", - "segmental subdivision of hindbrain", + "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", - "Aplasia/hypoplasia involving the skeleton", - "optic disc hypoplasia", - "decreased qualitatively biological_process", - "anatomical entity", - "long bone", - "material entity", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", + "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", - "Abnormal cardiac septum morphology", - "subdivision of skeleton", - "endochondral bone", - "cervical vertebra", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "animal organ development", - "abnormal anatomical entity morphology", - "Abnormality of head or neck", - "skeletal element", - "thoracic segment organ", - "anatomical collection", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the optic nerve", - "abnormal cellular process", - "secretory cell", - "bone element", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Cognitive impairment", - "abnormal central nervous system myelination", - "organ subunit", - "obsolete cell", - "digestive system", - "abnormal optic disc morphology", - "paired limb/fin", - "Morphological abnormality of the gastrointestinal tract", - "appendage", - "root", - "Aplasia/Hypoplasia of fingers", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal anatomical entity", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the retina", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "entity", - "abnormal anatomical entity morphology in the manus", - "skeleton", - "abnormal limb morphology", - "anatomical conduit", - "heart", - "Abnormality of the head", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "Abnormality of the gastrointestinal tract", + "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", - "glial cell development", - "Abnormal hindbrain morphology", + "nucleobase-containing compound metabolic process", "phenotype", "Abnormal cell morphology", - "musculoskeletal system", - "Abnormality of the eye", - "axon tract", - "abnormal upper urinary tract", - "Abnormality of the neck", - "manual digit 1", - "autopodial extension", - "abnormal face", - "abnormal alimentary part of gastrointestinal system", - "organ system subdivision", - "embryo", - "abnormal blood cell", - "erythrocyte", - "abnormal vertebral column", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", + "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", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "limb segment", - "subdivision of vertebral column", - "absent manual digit", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal craniocervical region morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", "continuant", - "absent radius bone in the independent continuant", - "systemic arterial system", "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", - "abnormal blood vessel morphology", - "lung", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "cognition", - "neck", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "Fetal ultrasound soft marker", - "abnormal neck", - "abnormal brain ventricle morphology", - "endochondral element", "craniocervical region", - "abnormal trachea morphology", - "male organism", + "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", - "anterior region of body", - "aplastic anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "Abnormal tracheal morphology", - "abnormal respiratory tube morphology", - "dorsum", - "abnormal coronary vessel morphology", - "tracheobronchial tree", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "main body axis", - "abnormal kidney morphology", - "decreased length of neck", - "cervical vertebra endochondral element", - "postcranial axial skeleton", - "abnormal external ear morphology", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "bone of dorsum", - "abnormal neck morphology", - "abnormal artery morphology", - "Abnormal forearm morphology", - "vertebra", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "reproductive organ", - "cell development", - "skeleton of manus", - "shape helix of outer ear", + "Abnormal finger morphology", "abnormal digestive system morphology", "abnormal forelimb morphology", - "quality", - "abnormal tracheobronchial tree morphology", - "Abnormal finger morphology", - "Abnormal neck morphology", - "anatomical system", - "upper digestive tract", - "abnormal digit morphology", - "abnormal skeletal system", - "digit 1 plus metapodial segment", - "material anatomical entity", - "skeleton of limb", - "digit plus metapodial segment", - "subdivision of tube", - "aplasia or hypoplasia of manual digit 1", - "system", - "circulatory system", - "bone marrow cell", - "tube", - "brain white matter", - "abnormal developmental process", - "penis", - "digestive system element", + "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", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", - "Abnormal corpus callosum morphology", - "irregular bone", - "organism", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb", - "increased size of the anatomical entity", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "multicellular organismal process", - "organ part", - "absent anatomical entity in the multicellular organism", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "Intellectual disability", - "bone marrow", - "subdivision of organism along main body axis", - "small intestine", - "agenesis of anatomical entity", + "non-material anatomical boundary", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "phenotype by ontology source", - "abnormal development of anatomical entity", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "absent anatomical entity", - "abnormal opening of the anatomical entity", - "ductus arteriosus", - "dorsal region element", - "body proper", - "respiratory system", - "pectoral appendage", - "abnormal hematopoietic system morphology", - "system development", - "digit", - "multi-limb segment region", - "acropodium region", - "tube development", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "cerebrospinal fluid", - "All", - "posterior segment of eyeball", - "ectoderm-derived structure", - "Hydrocephalus", - "Abnormal leukocyte count", - "cavitated compound organ", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "surface feature shape anatomical entity in independent continuant", - "Abnormal optic disc morphology", - "abnormal brain white matter morphology", - "Abnormality of the outer ear", - "abnormal cardiac septum morphology", - "organism substance", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormally increased number of anatomical entity", - "Morphological central nervous system abnormality", - "organ component layer", - "Abnormality of the urinary system", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "myelination", - "vascular system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "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", - "Aplasia/Hypoplasia of the corpus callosum", - "appendage girdle complex", - "subdivision of head", - "transudate", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal nervous system morphology", - "abnormal umbilical cord", + "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", - "Abnormal cerebral ventricle morphology", - "abnormal brain ventricle/choroid plexus morphology", - "ventricle of nervous system", - "increased size of the anatomical entity in independent continuant", - "vestibulo-auditory system", - "abnormal cranial nerve II morphology", - "hematopoietic cell", - "cellular organisms", - "Abnormal lung morphology", - "Decreased anatomical entity position", - "abnormal ear morphology", + "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", - "late embryo", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "lower respiratory tract", - "abnormal bone marrow morphology", - "non-connected functional system", - "abnormal location of ear", - "ear", - "anatomical entity hypoplasia in face", - "abnormal head morphology", + "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", - "gonad", - "abnormal growth", - "abnormal ocular fundus morphology", - "Decreased external ear position", - "platelet", - "abnormal location of external ear", - "Abnormality of the ear", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "orbital region", - "abnormal telencephalon morphology", - "external ear", - "abnormal anatomical entity topology in independent continuant", - "Patent ductus arteriosus", - "dorsal part of neck", - "Abnormal pinna morphology", - "abnormal external ear", - "abnormal bone marrow cell", - "trunk", + "anus atresia", + "Short long bone", + "abnormal skull morphology", + "abnormal immune system", + "Acute leukemia", + "camera-type eye", "abnormal shape of continuant", - "zeugopod", - "pair of lungs", - "segment of autopod", - "respiration organ", - "lung lobe development", - "Abnormal respiratory system physiology", - "Abnormal lung development", - "Abnormal lung lobation", - "abnormal lung lobe formation", - "abnormal lung morphology", - "Hypoplastic male external genitalia", - "anatomical structure development", - "anatomical structure formation involved in morphogenesis", - "Hypergonadotropic hypogonadism", - "respiratory system development", - "Abnormality of the orbital region", - "Aplasia/hypoplasia involving forearm bones", - "lung development", - "tract of brain", - "abnormally decreased functionality of the gonad", - "respiratory tube development", - "lung morphogenesis", - "Aplasia/Hypoplasia affecting the fundus", - "Abnormal platelet count", - "manual digit 1 or 5", - "developmental process", - "Abnormal myelination", + "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", - "abnormality of reproductive system physiology", - "Abnormality of the genital system", - "regional part of brain", - "Abnormal posterior eye segment morphology", - "Abnormality of reproductive system physiology", - "Abnormality of the endocrine system", - "hindbrain", - "animal organ morphogenesis", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "ventricular system of brain", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "glandular system", - "reproductive structure", - "changed developmental process rate", - "abnormal brain commissure morphology", - "dorsal telencephalic commissure", - "abnormal vasculature", - "abnormal genitourinary system", - "blood cell", - "Abnormality of the genitourinary system", - "Abnormal duodenum morphology", - "abnormal axon tract morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Duodenal atresia", - "vasculature", - "duodenum atresia", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal systemic arterial system morphology", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal external genitalia", - "Abnormal renal morphology", - "respiratory tract", - "alimentary part of gastrointestinal system atresia", - "arm bone", - "Intestinal atresia", - "intestine", - "duodenum", - "intestine atresia", - "Abnormal small intestine morphology", - "aplasia or hypoplasia of corpus callosum", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "Abnormality of the male genitalia", + "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", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", "upper urinary tract", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "cardiac chamber", + "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 corpus callosum morphology", "abnormal orbital region", - "Aplasia/Hypoplasia of the cerebral white matter", - "visual system", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "multi cell part structure", - "central nervous system myelination", - "abnormal posterior segment of eyeball morphology", + "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", - "Ventricular septal defect", - "cerebral hemisphere", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "bodily fluid", - "multi-tissue structure", - "abnormal vascular system morphology", - "photoreceptor array", - "cranial neuron projection bundle", - "abnormal retina morphology", - "great vessel of heart", - "abnormal myeloid cell morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "aplasia or hypoplasia of cranial nerve II", - "camera-type eye", - "chorioretinal region", - "abnormal immune system", - "optic disc", - "central nervous system cell part cluster", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "ocular fundus", - "brain ventricle", + "decreased size of the eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", "eyeball of camera-type eye", - "cervical region", - "Optic disc hypoplasia", - "Eumetazoa", - "Abnormal umbilical cord blood vessel morphology", - "Eukaryota", - "neuron projection bundle", "simple eye", - "trachea", "Abnormality of the skeletal system", "biogenic amine secreting cell", - "cranial nerve II", - "central nervous system development", - "esophagus", - "hemolymphoid system", - "abnormal size of optic disc", - "Abnormality of the face", - "abnormal face morphology", - "forelimb bone", - "anatomical entity hypoplasia", - "increased size of the brain ventricle", - "septum", - "paired limb/fin segment", - "Ventriculomegaly", - "excretory system", - "absent kidney", - "Abnormality of the upper urinary tract", - "manual digit 1 plus metapodial segment", - "abdomen", - "lung lobe morphogenesis", - "abdominal segment of trunk", - "abdominal segment element", - "subdivision of skeletal system", - "absent kidney in the independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abnormal renal system", - "abnormal respiratory system", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal biological_process", + "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 dorsal telencephalic commissure morphology", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "Overfolded helix", + "abnormal biological_process", + "Decreased multicellular organism mass", + "abnormally decreased number of cell", "Abnormal leukocyte morphology", "Abnormal platelet morphology", - "cardiac septum", - "anucleate cell", - "abnormal number of anatomical enitites of type cell", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", + "myeloid cell", + "platelet", + "Abnormality of bone marrow cell morphology", "pectoral appendage skeleton", "abnormal blood cell morphology", - "Abnormal cellular phenotype", - "myeloid cell", + "cardiac septum", + "anucleate cell", + "oxygen accumulating cell", "abnormal brain morphology", "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of cell", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", + "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", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "multicellular organism", - "Thrombocytopenia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "heart blood vessel", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "eukaryotic cell", - "oxygen accumulating cell", - "Abnormal fundus morphology", - "Abnormality of bone marrow cell morphology", - "leukocyte", - "immune system", + "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": 30, + "has_phenotype_count": 25, "highlight": None, "score": None, }, @@ -16454,2598 +14161,5205 @@ def search(): "has_phenotype": [ "HP:0002984", "HP:0009777", - "HP:0000957", + "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", + 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"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", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Squamous cell carcinoma", - "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", - "Vitiligo", - ], - "has_phenotype_closure": [ - "HP:0000086", - "GO:0022414", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0049367", - "UPHENO:0002598", - "UBERON:0004054", - "UBERON:0000473", - "UBERON:0001968", - "HP:0000078", - "UPHENO:0078452", - "GO:0048232", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0049701", - "GO:0032504", - "UPHENO:0086198", - "HP:0000035", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "UBERON:0004176", - "GO:0007283", - "GO:0007276", - "UPHENO:0087547", - "CL:0000408", - "UBERON:0003101", - "UPHENO:0050101", - "UPHENO:0002378", - "UPHENO:0049985", - "UPHENO:0085194", - "GO:0019953", - "GO:0003006", - "GO:0048609", - "HP:0012243", - "HP:0000811", - "GO:0000003", - "UBERON:0005156", - "UPHENO:0003055", - "UPHENO:0049970", - "CL:0000586", - "UPHENO:0085873", - "UPHENO:0002371", - "UPHENO:0086201", - "UPHENO:0087802", - "GO:0050954", - "HP:0000598", - "HP:0000028", - "UPHENO:0052231", - "GO:0007605", - "UPHENO:0005433", - "UPHENO:0052178", - "UPHENO:0050625", - "UPHENO:0005518", - "UPHENO:0052970", - "UBERON:0002105", - "HP:0012874", - "UPHENO:0002332", - "UPHENO:0081424", - "UPHENO:0081423", - "UPHENO:0080351", - "UPHENO:0075159", - "GO:0010556", - "GO:0009890", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "GO:0065007", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "GO:0009892", - "GO:0090304", + "UBERON:0001463", + "UBERON:0008962", + "UBERON:0008907", + "HP:0012210", "GO:0006996", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", - "GO:0010558", - "GO:0006325", - "UPHENO:0085875", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", - "GO:0050789", - "GO:0044238", - "UBERON:0011138", - "UBERON:0002513", - "GO:0048523", "HP:0000079", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0002536", - "HP:0006501", - "HP:0000152", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0054970", - "UBERON:0001016", - "UPHENO:0020888", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0008523", - "UPHENO:0087518", - "GO:0043473", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0082682", - "NCBITaxon:1", - "HP:0001034", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "NCBITaxon:2759", - "UBERON:5001463", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "HP:0008069", - "UBERON:0019221", - "UBERON:0000467", - "UPHENO:0053588", - "UPHENO:0002240", - "UBERON:0004765", - "UBERON:0004053", - "UPHENO:0086005", - "UPHENO:0026183", - "HP:0000234", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0006910", - "HP:0031704", - "GO:0006807", - "UBERON:0005451", - "UPHENO:0080377", - "UBERON:0011137", - "UBERON:0004111", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0012141", - "UBERON:0002416", - "UBERON:0012128", - "HP:0011297", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "UBERON:0000465", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", - "UPHENO:0021517", - "HP:0000001", - "UPHENO:0087950", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "BFO:0000004", - "UPHENO:0075195", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0080126", - "HP:0000957", - "UBERON:0000481", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "UBERON:0003113", - "HP:0001574", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000075", - "HP:0009815", - "HP:0009601", - "UBERON:0003607", - "HP:0045060", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0081313", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0087973", - "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "UBERON:0006717", - "UPHENO:0001003", - "UBERON:0008785", - "HP:0009821", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0013765", - "UPHENO:0080382", - "HP:0001000", - "HP:0002817", - "UPHENO:0001001", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0010740", - "UPHENO:0088170", - "UPHENO:0081792", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "UBERON:0010708", - "UBERON:0000019", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0080662", + "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", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "UBERON:0002386", - "UPHENO:0087472", - "UBERON:0000020", - "UBERON:0011249", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000365", - "GO:0009987", - "UPHENO:0081204", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "UBERON:0007272", - 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"GO:0071840", + "UPHENO:0026181", + "UBERON:0001440", + "GO:0003008", + "HP:0002921", + "UBERON:0010314", + "UBERON:0001062", + "GO:0006259", + "UPHENO:0076720", + "UBERON:0002100", "UBERON:0001474", - "CL:0000329", - "UBERON:0001690", - "UPHENO:0086173", - "UPHENO:0077426", - "UPHENO:0085984", - "HP:0002715", - "CL:0000457", - "UBERON:0000064", - "CL:0000081", - "CL:0000763", - "HP:0031816", - "CL:0000232", - "UBERON:0004375", - "HP:0011873", - "CL:0000233", - "UBERON:0019231", - "UBERON:0010364", - "UBERON:0013522", - "UBERON:0001710", - "HP:0020047", - "UPHENO:0002903", - "UPHENO:0081466", - "CL:0002092", - "UPHENO:0085371", - "UPHENO:0086045", - "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", + "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:0079876", + "UPHENO:0035025", "UBERON:0001007", - "CL:0000000", - "UPHENO:0020950", - "HP:0000581", - "UPHENO:0085344", - "UPHENO:0076779", - "UBERON:0000079", - "HP:0001871", - "HP:0012145", - "UPHENO:0075997", - "UBERON:0002371", - "CL:0000458", - "UPHENO:0087089", - "CL:0000764", - "UPHENO:0085070", - "HP:0025354", - "CL:0000255", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0011159", - "GO:0071704", - "CL:0002242", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", + "HP:0040012", + "UPHENO:0071344", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0081466", + "UBERON:0006314", + "UPHENO:0053588", "UPHENO:0063722", - "HP:0001881", + "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", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0032502", - "UPHENO:0002832", - "HP:0032251", - "UPHENO:0026028", - "UPHENO:0084928", - "UPHENO:0085302", - "GO:0071840", - "HP:0002818", - "HP:0002813", - "HP:0000277", - "UPHENO:0046411", - "HP:0009122", - "HP:0000347", + "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", - "GO:0006725", - "UPHENO:0087501", - "UPHENO:0076800", - "HP:0025033", - "UBERON:0004768", - "UPHENO:0081141", - "UBERON:0004088", - "UBERON:0000025", - "UBERON:0012360", - "UBERON:0011158", - "UBERON:0010313", - "CL:0000015", - "UPHENO:0002830", - "UBERON:0004288", - "UBERON:0011595", - "UPHENO:0053644", - "UBERON:0007842", + "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", - "UBERON:0007914", - "HP:0011821", - "UPHENO:0076803", - "UPHENO:0081091", - "UPHENO:0080165", - "HP:0009118", - "UBERON:0001684", - "UBERON:0015021", - "UBERON:0001708", - "UBERON:0003135", - "HP:0009116", - "UBERON:0003457", - "UPHENO:0081786", - "UPHENO:0076692", - "UPHENO:0069249", - "HP:0034261", - "GO:0050877", - "HP:0011927", - "HP:0009381", - "UPHENO:0011498", + "UPHENO:0001002", + "UBERON:0003460", + "UPHENO:0086956", + "UBERON:0006048", + "UPHENO:0087510", "UBERON:0004381", - "UPHENO:0046624", - "GO:0031326", - "UPHENO:0065599", - "UBERON:0000466", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UPHENO:0084727", - "UPHENO:0076805", - "UPHENO:0088168", - "UPHENO:0084715", - "UPHENO:0087430", - "UBERON:0002268", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0002470", - "UBERON:0007827", - "CL:0000300", - "HP:0012130", - "UBERON:0001008", - "UPHENO:0041629", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "HP:0000085", - "UBERON:8450002", - "UBERON:0005173", - "UPHENO:0041226", - "UBERON:0011143", - "UBERON:0005177", "UBERON:0008962", - "UBERON:0001463", - "UBERON:0008907", - "HP:0012210", - "UPHENO:0087427", - "UPHENO:0050113", - "GO:0008152", + "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": [ - "Pelvic kidney", - "Ectopic kidney", - "reproductive process", - "Abnormal testis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male gamete generation", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "decreased developmental process", - "absent gamete", - "sperm", - "reproductive structure", - "decreased qualitatively developmental process", - "decreased spermatogenesis", - "external male genitalia", - "testis", - "Abnormal reproductive system morphology", - "Azoospermia", - "male germ cell", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "organism substance", - "semen", - "reproduction", - "abnormal testis morphology", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "abnormal location of anatomical entity", - "spermatogenesis", - "absent anatomical entity in the semen", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "abnormal gamete", - "Abnormality of reproductive system physiology", - "haploid cell", - "reproductive system", - "Cryptorchidism", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "abnormal internal genitalia", - "germ cell", - "gamete", - "abnormality of reproductive system physiology", - "absent germ cell", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal developmental process", - "sensory perception", - "decreased sensory perception of sound", - "abnormal sensory perception", - "Hearing abnormality", - "abnormality of anatomical entity physiology", - "ear", - "multicellular organismal process", - "sensory perception of sound", - "system process", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "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", - "Abnormality of metabolism/homeostasis", - "regulation of cellular biosynthetic 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", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "nervous system process", "abnormal nitrogen compound metabolic process", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "cellular process", - "abnormal DNA metabolic process", - "Abnormality of head or neck", - "craniocervical region", + "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", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "regional part of nervous system", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the 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 cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "main body axis", - "abnormal kidney morphology", - "Narrow palpebral fissure", - "renal system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", "multi-tissue structure", - "axial skeleton plus cranial skeleton", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "sensory system", - "abnormal nervous system", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "pigmentation", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormality of skin pigmentation", - "skeleton of limb", - "neural crest-derived structure", - "aplasia or hypoplasia of skull", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased qualitatively biological_process in independent continuant", - "absent sperm", + "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", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal integument", - "biological_process", - "obsolete multicellular organism reproduction", + "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", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", + "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", - "Abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of the thumb", + "manual digit 1 plus metapodial segment", "abnormal manus morphology", - "Neoplasm", - "digit", - "Hyperpigmentation of the skin", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", + "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", - "segment of manus", - "gamete generation", "protein-containing material entity", "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal immune system morphology", - "Absent thumb", - "abnormal autopod region morphology", - "agenesis of anatomical entity", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "skeleton of manus", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", "organism", - "Neoplasm of the skin", - "anatomical system", - "segment of autopod", - "organic cyclic compound metabolic process", - "aplastic manual digit 1", - "dentary", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal size of anatomical entity", - "material anatomical entity", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", + "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", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "facial skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "multi-limb segment region", - "endochondral element", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", + "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", - "skeletal element", - "zeugopod", - "body proper", - "central nervous system", - "Abnormality of limb bone", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased size of the anatomical entity", - "limb", - "decreased size of the multicellular organism", - "Abnormality of skull size", + "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", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "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", - "quality", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "primary metabolic process", - "Abnormality of the skin", - "forelimb endochondral element", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "abnormal craniocervical region morphology", + "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", - "lateral structure", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "compound organ", - "eye", - "skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "forelimb zeugopod", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "appendage", - "root", + "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", - "Aplasia/Hypoplasia of the radius", "endochondral bone", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", + "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", - "abnormal digit morphology", - "skeleton of lower jaw", - "subdivision of organism along appendicular axis", + "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", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "nervous system", - "forelimb zeugopod bone", + "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", - "Abnormal internal genitalia", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", + "abnormal DNA metabolic process", + "blood cell", "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "absent manual digit", + "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", - "organ system subdivision", - "decreased length of palpebral fissure", - "abnormal blood cell", - "erythrocyte", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "system", - "bone marrow cell", - "appendicular skeletal system", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "Aplasia/hypoplasia involving the skeleton", - "decreased qualitatively biological_process", - "anatomical entity", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "absent sperm in the semen", + "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", - "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", + "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", - "Abnormality of the musculoskeletal system", - "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", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "organism subdivision", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "skeletal system", - "motile cell", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "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", + 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"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", + "UBERON:0015410", + "UBERON:0018674", + "UBERON:0001009", + "UBERON:0001637", + "UPHENO:0015280", + "GO:0016043", + "UPHENO:0075902", + "UPHENO:0080168", + "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", + "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", + ], + "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", + "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", + "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", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", + "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", + "Absent thumb", "aplasia or hypoplasia of skeleton", "abnormal craniocervical region", - "abnormal mouth", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", + "limb", + "Abnormality of the upper limb", + "cell", + "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", + "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", + "primary metabolic process", + "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", + "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", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "manual digit 1", - "regulation of metabolic process", - "autopodial extension", - "abnormal face", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal central nervous system morphology", - "abnormal reproductive 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", + "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 forebrain morphology", - "abnormal nervous system morphology", - "abnormal cell morphology", - "telencephalon", - "forebrain", - "blood cell", - "head bone", + "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", - "cranial skeletal system", - "postcranial axial skeleton", - "Decreased head circumference", - "pectoral complex", - "dermatocranium", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", + "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", - "Squamous cell carcinoma", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", + "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", + "continuant", + "forelimb zeugopod", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "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", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Abnormality of the orbital region", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "orbital region", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal size of palpebral fissure", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Abnormality of the face", + "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", - "abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "abnormal hematopoietic system", - "Abnormality of the immune system", - "regulation of macromolecule biosynthetic process", + "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", - "Thrombocytopenia", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", + "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 leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", + "abnormal brain morphology", + "abnormal phenotype by ontology source", + "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", - "digestive system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manus", - "bone element hypoplasia in face", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "subdivision of tube", - "aplasia or hypoplasia of mandible", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal digit", - "lower jaw region", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", + "programmed DNA elimination", "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "abnormal male reproductive system", - "abnormal mouth morphology", - "mouth", - "abnormal mandible morphology", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "Abnormality of body height", - "tube", - "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "anatomical entity hypoplasia in face", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "Short finger", - "Short digit", - "anterior region of body", - "decreased length of manual digit 1", - "Abnormal nasal tip morphology", - "aplastic anatomical entity", - "Bulbous nose", - "Abnormal external nose morphology", - "entire sense organ system", - "abnormal external nose morphology", - "nose", - "immaterial anatomical entity", - "Abnormality of the nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "anatomical point", - "olfactory organ", - "abnormal erythrocyte morphology", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "excretory system", + "negative regulation of cellular biosynthetic process", "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "Abnormality of the kidney", - "Horseshoe kidney", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "vasculature", "abnormal renal system", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", + "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", + "Abnormal renal morphology", + "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", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", "upper urinary tract", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "concave 3-D shape anatomical entity", + "aplastic carpal bone", "abnormal renal system morphology", - "abnormal chromatin organization", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "cellular component organization", + "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", + "primary circulatory organ", + "autopodial skeleton", + "abnormal skeletal joint morphology in the pectoral complex", + "digitopodium region", + "acropodium region", + "Finger aplasia", + "Abnormal proximal phalanx morphology of the hand", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system", + "abnormal musculature", + "abnormal forebrain morphology", + "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", + "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 head", + "abnormal limb morphology", + "anatomical conduit", + "abnormal skeletal joint morphology in the independent continuant", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "Short long bone", + "abnormal skull morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "abnormal biological_process", + "kidney", + "Growth delay", + "lateral structure", + "vessel", + "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", + "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 size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "absent carpal bone in the limb", + "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", ], - "has_phenotype_count": 20, + "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0014986", + "id": "MONDO:0054748", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", + "name": "Fanconi anemia, complementation group S", "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"], + "description": None, + "xref": ["GARD:16264", "OMIM:617883"], "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", + "FANCS", + "Fanconi anemia, complementation GROUP S", + "Fanconi anemia, complementation group S", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ + "HP:0040012", + "HP:0100615", + "HP:0000430", + "HP:0000750", "HP:0001249", - "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", "HP:0000252", - "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", + "HP:0000582", + "HP:0000316", + "HP:0000581", + "HP:0000527", "HP:0000568", - "HP:0007099", + "HP:0000689", + "HP:0000426", + "HP:0000294", + "HP:0001263", + "HP:0003002", + "HP:0025318", + "HP:0000215", + "HP:0030084", "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764", + "HP:0001508", + "HP:0008070", + "HP:0000280", + "HP:0001251", + "HP:0004322", + "HP:0000463", + "HP:0000189", + "HP:0001572", + "HP:0000286", + "HP:0009623", ], "has_phenotype_label": [ + "Chromosome breakage", + "Ovarian neoplasm", + "Underdeveloped nasal alae", + "Delayed speech and language development", "Intellectual disability", - "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", + "Upslanted palpebral fissure", + "Hypertelorism", + "Blepharophimosis", + "Long eyelashes", "Microphthalmia", - "Chiari type I malformation", + "Dental malocclusion", + "Prominent nasal bridge", + "Low anterior hairline", + "Global developmental delay", + "Breast carcinoma", + "Ovarian carcinoma", + "Thick upper lip vermilion", + "Clinodactyly", "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus", + "Failure to thrive", + "Sparse hair", + "Coarse facial features", + "Ataxia", + "Short stature", + "Anteverted nares", + "Narrow palate", + "Macrodontia", + "Epicanthus", + "Proximal placement of thumb", ], "has_phenotype_closure": [ - "HP:0001574", - "HP:0011121", - "UBERON:0002416", - "UPHENO:0002635", - "UBERON:0005174", - "HP:0002144", - "UBERON:0002240", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "GO:0006996", - "HP:0001939", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "UPHENO:0050845", - "HP:0003220", - "GO:0071704", - "GO:0008152", - "UPHENO:0050113", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", 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"BFO:0000040", + "GO:0031052", + "UPHENO:0072261", + "HP:0011442", + "HP:0002463", + "GO:0048523", + "UPHENO:0050113", + "HP:0020047", + "HP:0012243", + "HP:0010785", + "HP:0000152", + "UPHENO:0080079", + "UBERON:0006906", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0081786", + "UBERON:0004456", + "GO:0006996", "UBERON:0000479", - "UPHENO:0035025", + "UPHENO:0079876", "UBERON:0001007", - "UPHENO:0049700", - "UPHENO:0011589", - "HP:0005927", - "NCBITaxon:33208", - "UPHENO:0002536", - "UPHENO:0076692", - "UBERON:0000019", - "UBERON:0010708", - "GO:0050890", - "UPHENO:0084761", - "UPHENO:0047419", - "UPHENO:0011498", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0004523", - "UPHENO:0056237", - "UBERON:0010758", - "UPHENO:0026506", + "UPHENO:0003035", + "GO:0005623", + "UPHENO:0084766", + "UPHENO:0072402", + "HP:0000527", + "UBERON:0001708", + "UPHENO:0087950", + "HP:0000001", + "UBERON:0001084", + "UBERON:0013701", "GO:0032501", - "UPHENO:0004459", - "UBERON:0002428", + "UPHENO:0082794", + "UBERON:0004288", + "UBERON:0011595", + "UPHENO:0002830", + "GO:0046483", + "UBERON:0034768", + "HP:0003220", + "UPHENO:0087551", "BFO:0000004", - "HP:0000001", - "UBERON:0001442", - "UPHENO:0080209", - "UBERON:0004923", - "UBERON:0012354", - "UBERON:0000020", - "HP:0040072", - "UPHENO:0080099", - "UBERON:0003129", - "UBERON:0015061", - "HP:0001249", - "UPHENO:0002833", + "NBO:0000313", + "GO:0010558", + "UPHENO:0019384", + "GO:0006807", + "UPHENO:0020888", + "GO:0008150", + "HP:0000280", + "UPHENO:0075997", + "UBERON:0006333", + "UBERON:0000465", + "GO:0008152", + "UBERON:0004755", + "GO:0071824", + "UBERON:0010313", + "UPHENO:0002635", + "BFO:0000001", + "UPHENO:0076791", + "UPHENO:0054610", + "UPHENO:0075792", + "UPHENO:0086589", + "HP:0200006", + "UBERON:0000464", + "UPHENO:0081338", + "UBERON:0012141", + "UPHENO:0003013", + "GO:0065007", + "HP:0000119", + "UPHENO:0076799", + "HP:0010787", + "UPHENO:0076766", + "GO:0031327", + "UPHENO:0076702", + "UBERON:0000475", + "UPHENO:0086172", + "UPHENO:0005431", + "HP:0000078", + "HP:0000118", + "UBERON:0000061", + "GO:1901360", + "UBERON:0035639", + "UBERON:0006058", + "GO:0048519", + "UBERON:0000153", + "UPHENO:0049873", + "GO:0019222", + "UPHENO:0000541", + "GO:0010468", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0034770", + "HP:0034434", + "UBERON:0001555", + "UBERON:0010230", + "UBERON:0002418", + "NCBITaxon:33154", + "UBERON:0000970", + "UPHENO:0050116", + "UPHENO:0050021", + "UBERON:0000073", + "GO:0050890", + "UBERON:0000019", + "GO:0010629", + "UBERON:0003975", + "GO:0050794", + "UPHENO:0049990", + "UBERON:0034929", + "UPHENO:0087907", + "HP:0002763", + "GO:0009987", + "UBERON:0010000", + "UPHENO:0054577", + "UBERON:0002390", + "UBERON:0011216", + "UBERON:0004175", + "HP:0000234", + "HP:0033127", + "UPHENO:0003055", + "HP:0000164", + "HP:0025354", + "UBERON:0000474", + "UBERON:0000403", + "HP:0003549", + "UPHENO:0087089", + "CL:0000764", + "HP:0007379", + "HP:0000137", + "UBERON:0000021", + "HP:0011339", + "UBERON:0002389", + "UBERON:0000468", + "UBERON:3000961", + "UPHENO:0087974", + "HP:0011793", + "UBERON:0000990", + "UPHENO:0020584", + "UBERON:0000003", + "BFO:0000003", "UPHENO:0076703", - "BFO:0000040", + "HP:0100615", + "UBERON:0002384", + "HP:0000582", + "HP:0001572", + "UBERON:0002204", + "UPHENO:0049586", "UBERON:0002544", - "GO:0006259", - "UPHENO:0076720", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0001474", - "UBERON:0005358", - "GO:0044237", - "HP:0002977", - "UBERON:0010363", - "UBERON:0006058", - "NCBITaxon:131567", - "UPHENO:0076723", - "HP:0000077", - "UPHENO:0002905", + "UPHENO:0081790", + "UBERON:0005156", + "UBERON:0000062", + "NCBITaxon:33208", + "HP:0011017", + "HP:0000252", + "NCBITaxon:6072", + "UPHENO:0076760", + "UPHENO:0075220", + "UBERON:0001712", + "UPHENO:0088168", + "UPHENO:0076805", + "HP:0025461", + "UPHENO:0081435", + "UPHENO:0021791", + "HP:0000812", "UPHENO:0086635", - "HP:0033127", - "UBERON:0002471", - "HP:0040070", - "HP:0100547", - "UPHENO:0002880", - "GO:1901360", + "HP:0000240", + "UPHENO:0080352", + "UBERON:0000075", + "UPHENO:0088186", + "UBERON:0010912", + "UBERON:0002616", + "UBERON:0001032", + "UPHENO:0002964", + "HP:0012443", + "HP:0030669", + "HP:0009603", + "UBERON:0034921", + "CL:0000081", + "UBERON:0000064", + "HP:0032039", + "UBERON:0000063", + "UBERON:0011137", + "UPHENO:0080377", + "UBERON:0004111", + "HP:0000315", + "HP:0000492", + "HP:0010938", + "GO:0043170", + "HP:0008050", "BFO:0000141", - "UPHENO:0002830", - "HP:0001903", + "UBERON:0000483", + "UPHENO:0086824", + "UBERON:0000161", + "UPHENO:0076761", + "UBERON:0000466", + "UPHENO:0002598", + "HP:0100886", + "HP:0000316", + "HP:0002060", + "HP:0012372", + "UBERON:0000047", + "UBERON:0003672", "UBERON:0005944", - "UBERON:0034925", - "UBERON:0004708", - "UPHENO:0086932", - "UBERON:5002544", - "UBERON:0000465", - "UBERON:0001130", - "UBERON:0005881", - "HP:0003330", - "HP:0040012", - "UPHENO:0071344", - "UBERON:0000467", - "UPHENO:0081466", - "UBERON:0004765", - "UPHENO:0085144", - "UBERON:0004288", - "GO:0010558", - "UBERON:0008785", - "UBERON:0012139", - "UPHENO:0084448", - "UBERON:0004710", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", + "UBERON:0000991", + "UPHENO:0003020", + "UBERON:0002553", + "HP:0000478", "UBERON:5001463", - "HP:0000163", - "UPHENO:0002433", - "UBERON:0003947", - "NCBITaxon:2759", - "UBERON:0002389", - "UBERON:0001895", - "UPHENO:0002826", - "UBERON:0010740", - "UBERON:0004121", - "UBERON:0015203", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0011355", - "UBERON:0001359", - "UPHENO:0087006", - "UPHENO:0088047", - "UBERON:0000064", - "UPHENO:0056212", - "UPHENO:0078606", - "HP:0002664", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UPHENO:0035147", - "UBERON:0005282", - "HP:0000929", - "UBERON:0000073", + "UPHENO:0021474", + "GO:0031326", + "UPHENO:0065599", + "UBERON:0010222", + "UPHENO:0049367", + "UPHENO:0075198", + "UPHENO:0072394", + "UPHENO:0080200", + "HP:0009924", + "HP:0200007", + "HP:0045025", + "UPHENO:0020950", + "HP:0000581", "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "GO:0016043", - "HP:0002011", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0076805", - "GO:0031323", - "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "UPHENO:0047299", - "UBERON:0004086", - "UPHENO:0076702", - "HP:0031938", - "UBERON:0000463", - "UBERON:0000161", - "HP:0025031", + "HP:0000951", + "UBERON:0000014", + "UPHENO:0054567", + "HP:0012745", + "UPHENO:0046753", + "UPHENO:0046505", + "HP:0012471", + "UBERON:0007375", + "UBERON:0013703", + "UPHENO:0087435", + "UPHENO:0076692", + "HP:0011138", + "HP:0001574", + "UBERON:0002416", + "UBERON:0011932", + "UBERON:0001003", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0002768", + "UPHENO:0087481", + "HP:0001595", + "UPHENO:0086475", + "GO:0050789", + "HP:0000765", + "UBERON:0012139", + "OBI:0100026", + "UPHENO:0001072", + "HP:0000499", + "HP:0011121", "UBERON:0002104", - "HP:0002118", - "UPHENO:0081451", - "UPHENO:0087349", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0086956", - "UPHENO:0079872", - "UPHENO:0002751", + "UPHENO:0076771", + "CL:0000000", + "HP:0003002", + "HP:0008056", + "UPHENO:0080209", "BFO:0000020", - "UBERON:0001555", - "UBERON:0006048", - "UPHENO:0087510", - "UPHENO:0080114", - "UBERON:0015001", - "UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UBERON:0010741", - "UBERON:0003466", - "UPHENO:0076718", - "HP:0000925", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", + "UPHENO:0081566", + "UBERON:0012354", + "HP:0009623", + "HP:0005105", + "UPHENO:0075219", + "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", + "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:0000033", + "UPHENO:0082938", + "UPHENO:0086700", + "UBERON:0001833", + "UBERON:0001834", + "UBERON:0001016", + "UPHENO:0020955", + "HP:0000177", + "UPHENO:0002915", + "HP:0040064", "UPHENO:0022529", - "HP:0009121", - "HP:0011793", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0025033", - "UBERON:0001245", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565", + "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", ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "skin of body", - "integument", - "integumental system", - "Nevus", - "Abnormal spinal cord morphology", - "spinal cord", - "Abnormal conus terminalis morphology", - "dorsum", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "abnormal organelle organization", - "programmed DNA elimination", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal cellular process", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormally formed anatomical entity", - "segmental subdivision of nervous system", - "hindbrain", - "Abnormal metencephalon morphology", - "Cerebellar malformation", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "decreased size of the anatomical entity in the independent continuant", - "orbital region", - "Abnormality of the orbital region", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "Abnormality of blood and blood-forming tissues", - "abnormal cell", - "immune system", - "disconnected anatomical group", - "abnormal immune system", - "non-connected functional system", - "Abnormal cellular phenotype", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "hemolymphoid system", - "Abnormality of the immune system", - "abnormal hematopoietic system", - "abnormal renal system morphology", - "abnormal anatomical entity topology in independent continuant", - "abnormal genitourinary system", - "abnormally localised anatomical entity", - "Ectopic kidney", - "abnormal renal system", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormally localised anatomical entity in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abdomen", - "Abnormality of the upper urinary tract", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormality of the face", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "anatomical cavity", - "abnormally decreased number of calcareous tooth", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "secondary dentition", - "abnormal mouth morphology", + "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", - "dentition", - "subdivision of tube", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "Abnormal number of teeth", - "myeloid cell", - "aplastic secondary dentition", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "subdivision of digestive tract", + "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", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Short stature", "delayed biological_process", - "Growth delay", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", "delayed growth", - "abnormal size of anatomical entity", - "Decreased head circumference", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal forebrain morphology", - "Eukaryota", + "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", - "abnormal skull morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "abnormal telencephalon morphology", - "dorsal region element", + "postcranial axial skeleton", + "cellular organisms", + "thoracic segment of trunk", + "abnormal digit", + "decreased size of the multicellular organism", "Abnormality of skull size", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "body proper", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", + "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", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "aplasia or hypoplasia of anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "Aplasia/hypoplasia involving bones of the upper limbs", - "bone marrow cell", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "limb endochondral element", - "genitourinary system", - "forelimb skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "Abnormal finger morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal appendicular skeleton morphology", - "multi-limb segment region", - "endochondral element", - "digit", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "head", - "Abnormality of limb bone", - "Neurodevelopmental delay", - "pectoral appendage", - "absent anatomical entity", - "brain ventricle", - "aplastic manual digit 1", - "abnormal growth", - "independent continuant", - "organic cyclic compound metabolic process", - "segment of autopod", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "skeletal system", "root", "appendage", - "tube", - "abnormal manual digit 1 morphology", - "organ subunit", - "Cognitive impairment", - "anatomical space", - "paired limb/fin", - "digestive system", - "upper limb segment", - "appendicular skeleton", - "abnormal anatomical entity morphology in the manus", - "manual digitopodium region", - "abnormal forelimb morphology", + "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", - "abnormal hematopoietic system morphology", + "Deviation of the thumb", "abnormal dentition", - "Abnormal nervous system physiology", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "cerebrospinal fluid", - "Abnormal cell morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", + "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", + "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", + "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", - "abnormal upper urinary tract", "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", + "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", + "process", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "eyelid", + "eye", + "scalp", "musculoskeletal system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of mental function", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Pelvic kidney", + "abnormal cellular metabolic process", + "Coarse facial features", + "material anatomical entity", "abnormality of nervous system physiology", - "skeleton of manus", + "internal female genitalia", + "Abnormal cellular physiology", + "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", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abnormal ala of nose morphology", + "Blepharophimosis", + "Intellectual disability", + "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", + "forebrain", + "Abnormal nasal morphology", + "negative regulation of macromolecule biosynthetic process", "lateral structure", - "digestive tract", - "process", - "hematopoietic system", + "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", + "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", + "regulation of macromolecule biosynthetic process", "multicellular organism", - "absent anatomical entity in the multicellular organism", - "agenesis of anatomical entity", - "abnormal face", + "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", + "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", - "Bone marrow hypocellularity", - "skeletal element", - "zeugopod", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of the hand", - "Abnormal appendicular skeleton morphology", - "Delayed ability to walk", + "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", + "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", - "abnormal cerebellum morphology", - "skeleton", - "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", + "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", + "face", + "abnormal orbital region", + "Abnormal eyelash morphology", + "axial skeletal system", + "Growth abnormality", + "upper lip", "nervous system", - "abnormal limb bone morphology", - "cellular process", - "Abnormal digit morphology", - "decreased size of the anatomical entity", - "cognition", - "ventricular system of brain", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "organism", - "autopod region", - "biological_process", - "Finger aplasia", - "entire sense organ system", - "continuant", - "manual digit 1 plus metapodial segment", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal skeletal system morphology", - "protein-containing material entity", + "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", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "organelle organization", + "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", - "segment of manus", + "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", "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "forelimb zeugopod", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "digit plus metapodial segment", + "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", - "material anatomical entity", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "radius endochondral element", + "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", + "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", - "biological regulation", - "Abnormality of globe size", - "Intellectual disability", + "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", + "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", + "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", - "bone marrow", + "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", - "Aplasia/hypoplasia of the extremities", - "forelimb", - "Abnormal skeletal morphology", - "aplasia or hypoplasia of manual digit", - "digit 1", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "postcranial axial skeleton", - "bone of free limb or fin", - "abnormal autopod region morphology", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "autopodial skeleton", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "organism subdivision", - "occurrent", - "organ", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", "abnormal head", + "decreased width of the anatomical entity in independent continuant", + "integumentary adnexa", + "jaw region", "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "trunk region element", - "pectoral complex", - "eye", - "Opisthokonta", - "paired limb/fin segment", + "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", - "skeleton of pectoral complex", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "abnormal spatial pattern of strand of hair", + "abnormal hairline", + "Narrow palate", + "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", - "abnormal forelimb zeugopod bone", - "abnormal manual digit morphology in the independent continuant", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "Microphthalmia", - "abnormal skeletal system", - "macromolecule metabolic process", - "appendage girdle complex", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", + "appendicular skeleton", + "anatomical conduit", "abnormal limb morphology", - "forelimb zeugopod skeleton", - "mesoderm-derived structure", - "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", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "Chiari malformation", - "anatomical conduit", - "Abnormality of the head", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "craniocervical region", - "abnormal long bone morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "arm bone", - "ventricle of nervous system", - "axial skeletal system", - "Radial dysplasia", - "Abnormal long bone morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "obsolete cell", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "dysgenesis of the anatomical entity", + "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", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "trunk", - "Abnormality of the vertebral column", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal bone structure", - "abnormal vertebral column", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "anus", - "protein-DNA complex organization", - "Abnormal anus morphology", - "DNA metabolic process", - "orifice", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "immaterial anatomical entity", - "anus atresia", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Chiari type I malformation", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Metazoa", + "abnormal number of anatomical enitites of type strand of hair", + "decreased qualitatively response to stimulus", + "deviation of anatomical entity", + "Ataxia", ], - "has_phenotype_count": 18, + "has_phenotype_count": 30, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py index 62410403e..0d5941576 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": 31, + "QTime": 0, "params": { "mm": "100%", "q": "fanconi", @@ -68,7 +68,6 @@ def search_response(): "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", @@ -85,19 +84,21 @@ def search_response(): "HP:0002650", "HP:0000252", "HP:0001882", + "HP:0001510", "HP:0002863", "HP:0002119", - "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", + "HP:0001562", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -116,7 +117,6 @@ def search_response(): "HP:0001639", "HP:0001636", "HP:0001631", - "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", @@ -176,7 +176,6 @@ def search_response(): "Arteriovenous malformation", "Abnormal morphology of ulna", "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", @@ -193,19 +192,21 @@ def search_response(): "Scoliosis", "Microcephaly", "Leukopenia", + "Growth delay", "Myelodysplasia", "Ventriculomegaly", - "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", + "Oligohydramnios", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", + "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -224,7 +225,6 @@ def search_response(): "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", - "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", @@ -276,151 +276,151 @@ def search_response(): "has_phenotype_count": 106, "has_phenotype_closure": [ "HP:0001010", + "UPHENO:0084987", "UPHENO:0085070", - "CL:0000458", "HP:0001873", - "UPHENO:0085344", + "UPHENO:0086173", + "CL:0000458", "UPHENO:0085189", - "UPHENO:0084987", "UPHENO:0086049", - "HP:0011875", "CL:0000233", "CL:0000457", - "UPHENO:0086173", + "UPHENO:0085344", + "HP:0011875", "HP:0001939", - "HP:0003220", "GO:0008152", + "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0030218", + "GO:0048871", + "UPHENO:0088162", + "UPHENO:0088170", + "CL:0000329", "HP:0010972", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", + "HP:0020047", + "CL:0000764", + "HP:0005522", "HP:0001877", "HP:0025461", "UPHENO:0084928", - "CL:0000329", - "UPHENO:0088162", - "GO:0048871", - "CL:0000764", - "GO:0048872", - "UPHENO:0088170", - "GO:0048869", + "GO:0030218", "GO:0002376", "GO:0009987", "GO:0042592", - "HP:0005522", - "HP:0020047", + "GO:0048869", "CL:0000232", + "GO:0048872", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0002818", "UBERON:0015001", "UPHENO:0080187", - "HP:0002818", - "UPHENO:0075198", "HP:0012745", + "UPHENO:0075198", "HP:0000010", "UPHENO:0002263", "UPHENO:0053644", "HP:0000028", - "UPHENO:0002806", - "UBERON:0000056", - "UBERON:0006555", "UBERON:0036295", + "UBERON:0006555", + "UPHENO:0002806", "HP:0025633", - "UPHENO:0002442", + "UBERON:0000056", "UPHENO:0086132", - "HP:0000083", + "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", + "HP:0000083", "HP:0000135", "HP:5201015", - "UPHENO:0081423", "UPHENO:0034110", "UPHENO:0063513", + "UPHENO:0081423", "HP:0000268", "UPHENO:0001208", - "UBERON:0013766", "UPHENO:0072402", "UBERON:0001084", - "UBERON:1000021", - "UPHENO:0087928", "UPHENO:0087058", - "HP:0000324", + "UBERON:0013766", + "UPHENO:0087928", + "UBERON:1000021", "UPHENO:0084734", "HP:0001999", + "HP:0000324", + "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0041084", - "UPHENO:0041083", "UPHENO:0076704", - "UBERON:0004768", - "UPHENO:0069249", + "UPHENO:0041083", "UPHENO:0081786", - "HP:0009116", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0003278", - "UBERON:0001684", + "UBERON:0004768", + "HP:0004322", + "HP:0030791", + "HP:0000277", + "UPHENO:0083646", + "UPHENO:0081314", "UPHENO:0084457", "HP:0000286", "HP:0009118", "UPHENO:0088116", - "UBERON:0001710", - "UPHENO:0083646", - "UPHENO:0081314", - "HP:0004322", - "HP:0030791", "CL:0000081", "UBERON:0012360", - "HP:0011873", - "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0069249", + "UBERON:0001708", + "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", "UPHENO:0081141", + "HP:0009116", "HP:0000347", - "UPHENO:0080087", + "UBERON:0001710", "HP:0009122", - "HP:0000277", - "GO:0050954", - "HP:0000365", + "HP:0011873", + "UPHENO:0081788", "UPHENO:0005518", + "HP:0000365", + "GO:0050954", "UPHENO:0052970", - "HP:0000486", "HP:0000549", - "GO:0050953", + "HP:0000486", + "UPHENO:0052164", "UPHENO:0050236", + "GO:0050953", "GO:0034101", "UPHENO:0050622", - "UPHENO:0052164", - "UPHENO:0085881", "HP:0000520", + "UPHENO:0085881", "HP:0000568", "UPHENO:0075219", "HP:0100887", - "HP:0007670", + "UPHENO:0066972", + "UPHENO:0080581", "UPHENO:0079837", "HP:0000359", "HP:0000496", + "UPHENO:0079828", + "HP:0007670", + "UPHENO:0002240", "UPHENO:0080602", "UPHENO:0003044", - "UPHENO:0066972", - "UPHENO:0080581", "HP:0011821", "HP:0012547", "HP:0031704", - "UPHENO:0079828", - "UPHENO:0002240", - "UBERON:0003975", + "UBERON:0003100", "HP:0000008", - "UPHENO:0041033", - "HP:0000130", + "UBERON:0003975", "UPHENO:0003053", - "UBERON:0003100", - "HP:0002719", - "UPHENO:0076766", + "UPHENO:0041033", "HP:0010460", "UPHENO:0005170", "UBERON:0000993", "UBERON:0013515", + "HP:0000130", + "HP:0002719", + "UPHENO:0076766", "UBERON:0012358", "GO:0002262", "UBERON:0003620", @@ -429,326 +429,332 @@ def search_response(): "UBERON:0015025", "HP:0001172", "UBERON:0015024", - "UPHENO:0076724", "UPHENO:0021800", + "UPHENO:0076724", "UBERON:5102389", - "NBO:0000403", - "NBO:0000001", - "NBO:0000389", - "GO:0050905", - "NBO:0000338", - "UPHENO:0041151", - "UPHENO:0078622", + "GO:0007610", "HP:0000708", "HP:0001347", - "UPHENO:0049622", - "GO:0007610", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0083263", + "UPHENO:0049622", "UBERON:0004742", "NBO:0000388", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050613", + "HP:0100022", "UPHENO:0080585", + "UPHENO:0050613", + "NBO:0000403", + "NBO:0000001", "GO:0050896", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0050620", + "GO:0060004", "UPHENO:0050079", - "UPHENO:0050606", - "HP:0100022", + "GO:0050905", + "NBO:0000338", "UPHENO:0080393", + "HP:0001537", "UPHENO:0076794", "HP:0001551", - "HP:0001537", + "UBERON:0000474", + "HP:0010866", + "UPHENO:0086122", "UBERON:0003697", - "HP:0004299", - "UPHENO:0002712", - "HP:0003549", "HP:0004298", "UBERON:0007118", - "UPHENO:0086122", - "UBERON:0000474", - "HP:0010866", - "UBERON:0000173", - "HP:0001562", - "HP:0001560", - "UBERON:0000323", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0086128", - "UPHENO:0015329", + "HP:0003549", + "HP:0004299", + "UPHENO:0002712", + "UPHENO:0019890", "UPHENO:0069254", "UBERON:0002085", "UPHENO:0086857", - "UPHENO:0019890", - "GO:0007600", - "HP:0001671", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0084715", + "HP:0001714", "UPHENO:0019886", - "UBERON:0002094", - "UBERON:0003037", - "HP:0031654", + "HP:0001641", "HP:0011563", - "UPHENO:0042775", - "UBERON:0002099", - "UPHENO:0084482", + "UBERON:0010688", + "UPHENO:0086855", "HP:0000218", "UBERON:0002146", - "HP:0001714", - "UPHENO:0086864", + "GO:0007600", + "HP:0001671", + "UBERON:0003037", + "UBERON:0002094", + "HP:0011025", "UPHENO:0086863", "HP:0001707", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0084715", "UPHENO:0084489", "HP:0001636", - "HP:0001641", - "HP:0011025", - "UBERON:0010688", - "UPHENO:0086855", "HP:0011545", - "UPHENO:0024906", - "UPHENO:0077800", - "HP:0001637", - "UBERON:0018260", - "UBERON:0005983", - "UBERON:0000383", + "HP:0002623", + "UPHENO:0086854", + "UPHENO:0042775", + "UBERON:0002099", + "UPHENO:0086864", + "HP:0031654", + "UPHENO:0084482", "UPHENO:0076781", + "UBERON:0000383", + "UBERON:0005983", "HP:0001638", - "UBERON:0003513", - "HP:0001643", - "UBERON:0011695", + "UPHENO:0024906", + "UBERON:0018260", + "HP:0001637", + "UPHENO:0077800", + "UBERON:0004716", "UBERON:0003834", "UBERON:0005985", "UBERON:0018674", - "UPHENO:0087018", + "HP:0001643", "UPHENO:0087309", - "UBERON:0004716", + "UBERON:0011695", + "UBERON:0003513", "UPHENO:0015290", + "UPHENO:0087018", "UBERON:0006876", "UBERON:0002201", "UBERON:0003498", + "UBERON:0010191", + "UPHENO:0076809", "HP:0002692", "UBERON:0003519", - "UPHENO:0076809", - "UBERON:0010191", "HP:0001679", "UPHENO:0082454", + "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0041369", - "UPHENO:0078347", "UPHENO:0078246", + "UPHENO:0078347", "UBERON:0003457", "UBERON:0011300", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0008200", - "UBERON:0002020", - "UBERON:0000956", - "UBERON:0000203", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0084465", "HP:0002007", "HP:0430000", + "UPHENO:0086595", + "HP:0002538", "UPHENO:0076732", "UBERON:0007914", - "UBERON:0004756", - "UBERON:0001869", + "HP:0002683", + "UPHENO:0002700", "UPHENO:0055092", "UPHENO:0005994", + "UBERON:0008200", + "UBERON:0003528", + "UBERON:0000209", "UBERON:0004339", "UBERON:0010364", "UBERON:0011158", - "HP:0002683", - "UBERON:0003528", - "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0004756", + "UBERON:0001869", "HP:0000290", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0086595", - "HP:0002538", - "UPHENO:0084465", - "UBERON:0005401", "UBERON:0016529", - "UPHENO:0002700", + "UBERON:0005401", + "UBERON:0002410", + "UBERON:0000045", + "UPHENO:0087601", "HP:0001763", "UPHENO:0086978", "UPHENO:0087933", - "HP:0410015", - "UBERON:0002005", - "UBERON:0001808", - "UBERON:0003338", "UPHENO:0085068", "HP:0025028", - "UBERON:0000011", - "UPHENO:0087601", "UBERON:0001809", + "UBERON:0003338", "HP:0410014", - "HP:0012331", - "UPHENO:0087602", + "UPHENO:0002941", + "HP:0410015", + "UPHENO:0087121", + "UBERON:0002005", + "UBERON:0001808", + "HP:0002251", + "UPHENO:0020258", + "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", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UBERON:0002240", + "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", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0051077", + "HP:0000001", + "UPHENO:0087950", "UPHENO:0075148", "UBERON:0004249", "GO:0035295", - "UPHENO:0076744", - "HP:0040069", - "UBERON:0000464", - "HP:0011277", - "UPHENO:0063599", - "UPHENO:0076707", - "UPHENO:0087232", "UPHENO:0084729", "UBERON:0016880", - "UBERON:0005409", - "UPHENO:0086797", - "HP:0002242", + "UBERON:0000047", + "GO:0016331", + "HP:0000202", + "UPHENO:0052778", + "UPHENO:0055730", + "GO:0021915", + "UBERON:5101463", + "GO:0007399", + "GO:0060429", + "UPHENO:0077885", + "BFO:0000003", + "UBERON:0000003", "UPHENO:0076780", "UPHENO:0077854", "HP:0004323", - "UBERON:0034713", - "UPHENO:0005642", - "UPHENO:0019888", - "HP:0100627", - "UPHENO:0085876", - "UBERON:0001785", - "UBERON:0005162", - "UPHENO:0088186", - "HP:0045010", - "UBERON:0000010", + "UPHENO:0086797", + "HP:0002242", + "UBERON:0001043", + "HP:0001713", + "UBERON:0035554", + "UPHENO:0041410", "UBERON:0001530", "UPHENO:0076722", "UBERON:0001424", "HP:0002650", - "HP:0009484", + "UBERON:0000010", "UPHENO:0041146", - "UBERON:0000047", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0035133", - "NCBITaxon:6072", - "UPHENO:0076776", - "UPHENO:0088050", - "UPHENO:0087186", - "UPHENO:0081435", - "HP:0001760", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0045010", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0085876", + "UBERON:0001785", + "HP:0009484", + "UBERON:0034713", + "UPHENO:0005642", + "UPHENO:0019888", + "HP:0100627", "UPHENO:0004508", "BFO:0000020", "UBERON:0012354", - "HP:0012243", - "NCBITaxon:33154", - "UBERON:0011892", - "GO:0005623", - "UBERON:0006311", - "UPHENO:0021670", - "UPHENO:0079826", - "UPHENO:0072814", - "HP:0000553", - "HP:0008062", - "UPHENO:0081313", - "HP:0000483", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:5102544", - "HP:0040070", - "UPHENO:0076718", - "HP:0012443", - "UBERON:0001032", - "UBERON:0002616", - "UBERON:0002101", "UBERON:0003466", "HP:0000047", "UBERON:0000483", "BFO:0000141", - "UPHENO:0041664", - "UPHENO:0086817", - "HP:0100867", + "UBERON:0002514", + "HP:0011844", + "UBERON:0001434", + "HP:0002795", "UBERON:0004572", "UBERON:0004708", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0076718", + "HP:0040071", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0009792", + "UBERON:0004375", + "UPHENO:0021561", + "HP:0040070", + "UBERON:0008001", + "UPHENO:0031199", + "UBERON:0002204", + "UBERON:0001333", + "GO:0003008", + "UBERON:0004582", + "UPHENO:0086956", + "UBERON:0003607", + "UBERON:0015003", + "UBERON:0010712", "UBERON:0012475", + "UBERON:0004535", + "UPHENO:0002880", + "UBERON:0003914", "UPHENO:0020868", "HP:0002973", "HP:0000175", "UPHENO:0003098", "UBERON:0011676", "HP:0000025", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "UBERON:0002101", + "HP:0002817", + "UPHENO:0085118", + "UBERON:0010358", + "UBERON:0001062", + "UBERON:0000981", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + "UBERON:0005423", + "HP:0004207", "UPHENO:0076740", - "UBERON:0008001", - "UPHENO:0031199", - "UBERON:0002204", - "UBERON:0001333", - "UBERON:0003607", - "UPHENO:0002880", - "UBERON:0004535", - "UPHENO:0077877", - "HP:0000340", - "UPHENO:0002751", - "UBERON:0004766", - "HP:0007700", - "UPHENO:0088185", - "UBERON:0010712", - "GO:0003008", - "UBERON:0004582", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0040071", - "UPHENO:0021561", - "UBERON:0015003", - "UBERON:0001434", - "HP:0002795", - "UPHENO:0082356", - "UBERON:0001766", - "HP:0040064", "HP:0045005", "GO:0002009", "UPHENO:0087501", - "UPHENO:0080079", - "HP:0007364", - "UBERON:0002514", - "HP:0011844", - "UPHENO:0086956", - "UBERON:0000981", - "UBERON:0011584", - "UBERON:0004923", - "UBERON:0000026", - "UBERON:0005423", - "HP:0004207", - "UPHENO:0076703", - "UBERON:0005337", - "HP:0000582", "UBERON:0008962", "UPHENO:0011498", "UBERON:0000955", "UBERON:0002428", "HP:0000639", "UBERON:0003128", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "HP:0002817", - "UPHENO:0019766", - "HP:0000953", - "UPHENO:0018390", + "HP:0100867", + "HP:0040064", + "UPHENO:0076703", + "UBERON:0005337", + "HP:0000582", + "HP:0025015", + "UBERON:0000970", + "HP:0006495", "PATO:0000001", "UBERON:0003625", "HP:0002597", "UBERON:0002049", "UBERON:0001016", "UBERON:0002107", - "HP:0025015", - "UBERON:0000970", - "HP:0006495", - "UBERON:0007272", - "UBERON:0004537", - "UBERON:0000064", + "HP:0001710", + "UPHENO:0087363", + "UPHENO:0076776", + "UBERON:0035133", + "NCBITaxon:6072", "HP:0032101", "HP:0001511", "UPHENO:0080362", @@ -756,21 +762,25 @@ def search_response(): "UPHENO:0076729", "UPHENO:0063527", "UBERON:0004145", + "UBERON:0007272", + "UBERON:0004537", + "UBERON:0000064", + "UPHENO:0019766", + "HP:0000953", + "UPHENO:0018390", "UBERON:0008811", - "HP:0001629", - "UBERON:0004120", - "GO:0007605", - "UBERON:0010363", - "UPHENO:0087548", - "UBERON:0004151", - "UBERON:0035639", - "UPHENO:0003058", "UBERON:0001332", "UBERON:0010719", "UPHENO:0086792", "GO:0007275", "UPHENO:0078288", "UBERON:0000989", + "GO:0007605", + "UBERON:0010363", + "UPHENO:0087548", + "UBERON:0004151", + "UBERON:0035639", + "UPHENO:0003058", "GO:0001841", "UBERON:0002349", "UPHENO:0080662", @@ -778,29 +788,42 @@ def search_response(): "GO:0048646", "UPHENO:0046753", "UPHENO:0087907", + "HP:0001629", + "UBERON:0004120", "HP:0100543", "UBERON:0001075", "UPHENO:0050108", + "HP:0012759", + "HP:0002118", "HP:0009602", "HP:0012638", "HP:0001780", "HP:0006101", - "HP:0012759", - "HP:0002118", - "UBERON:0011107", - "GO:0050879", - "UPHENO:0076702", - "UBERON:0000475", + "HP:0006824", + "UPHENO:0002708", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0007779", + "UBERON:0012151", + "HP:0100026", + "GO:0040007", + "HP:0002921", + "HP:0002813", + "UPHENO:0003405", + "UBERON:0010418", + "UBERON:0005358", + "UPHENO:0087433", "UPHENO:0088123", "UPHENO:0079833", "UBERON:0004086", "UBERON:0000153", "UPHENO:0019898", "UPHENO:0075933", - "HP:0006824", - "UPHENO:0002708", - "HP:0002011", - "UPHENO:0081700", + "HP:0000238", + "GO:0050879", + "UPHENO:0076702", + "UBERON:0000475", + "UBERON:0011107", "HP:0000036", "UBERON:0005281", "UPHENO:0085874", @@ -813,80 +836,49 @@ def search_response(): "UPHENO:0005597", "UPHENO:0033635", "UBERON:0004771", - "UBERON:0012151", - "HP:0100026", - "GO:0040007", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "UPHENO:0080202", - "UBERON:0000995", - "UBERON:0010428", - "UBERON:0005358", - "UPHENO:0087433", - "UBERON:0007779", "UPHENO:0004523", "HP:0009115", - "UBERON:0010418", - "HP:0000238", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", "UPHENO:0056212", "UBERON:0002081", "UPHENO:0086610", - "UPHENO:0031193", - "HP:0002863", - "UBERON:0001021", - "UPHENO:0031170", "UBERON:0002471", "UPHENO:0087089", "HP:0012848", "UPHENO:0041098", "GO:0032502", "UPHENO:0002832", - "UBERON:0001460", - "HP:0032251", - "HP:0000152", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "UPHENO:0087472", - "UBERON:0001130", - "HP:0010161", - "GO:0007601", - "UBERON:0000465", - "UPHENO:0002598", - "UBERON:0001968", - "HP:0410043", - "UPHENO:0081709", - "UPHENO:0053298", - "UBERON:0000165", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", - "UBERON:0011137", - "HP:0012639", - "BFO:0000002", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "HP:0011218", "UPHENO:0002219", "HP:0000072", "UPHENO:0006910", - "HP:0000202", - "UPHENO:0052778", - "GO:0016331", - "UBERON:0001870", - "UBERON:0004175", - "UBERON:0011216", - "HP:0011024", - "UPHENO:0056237", - "HP:0012758", - "UBERON:0002193", - "UPHENO:0087846", - "BFO:0000004", + "GO:0035239", + "UBERON:0002091", + "UPHENO:0041591", + "UBERON:0003947", + "CL:0000019", + "UBERON:0002082", + "UPHENO:0084815", + "HP:0003026", + "UPHENO:0087665", "UBERON:0011249", "UPHENO:0005998", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0056333", - "UBERON:0003133", + "UBERON:0000062", + "HP:0005344", + "UBERON:0011582", + "HP:0010301", + "UPHENO:0031129", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "UPHENO:0031193", + "HP:0002863", "HP:0025354", "HP:0001646", "UPHENO:0050625", @@ -894,6 +886,9 @@ def search_response(): "UBERON:0001137", "HP:0004378", "UPHENO:0001002", + "UBERON:0003135", + "UPHENO:0002332", + "UBERON:0015030", "UBERON:0019264", "HP:0033353", "UPHENO:0020584", @@ -901,60 +896,62 @@ def search_response(): "UPHENO:0081566", "UPHENO:0014240", "HP:0000356", - "HP:0000153", - "HP:0100491", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0087531", - "UPHENO:0086198", - "HP:0000539", - "UBERON:0003135", - "UBERON:0011138", - "UBERON:0004571", - "UBERON:0000065", - "GO:0022414", + "UBERON:0001130", + "HP:0010161", + "GO:0007601", + "UBERON:0000465", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0021823", + "UPHENO:0085194", + "UBERON:0000991", + "HP:0000707", + "HP:0000795", + "UBERON:0000990", + "BFO:0000001", + "UPHENO:0002635", + "HP:0030311", + "UPHENO:0002371", + "BFO:0000004", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0056333", + "UBERON:0003133", + "GO:0048729", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "HP:0002414", + "UPHENO:0082129", + "HP:0003330", + "UPHENO:0001005", "UBERON:0003509", "UBERON:0015021", "HP:0001667", "HP:0000027", - "UBERON:0001049", - "HP:0034261", - "UPHENO:0020641", - "UPHENO:0076692", - "HP:0011961", + "UPHENO:0019477", + "UBERON:0011138", + "UBERON:0004571", + "UBERON:0000065", + "GO:0022414", + "HP:0045058", "UPHENO:0086005", "UPHENO:0087510", "GO:0009653", "UBERON:0000964", - "HP:0045058", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0001005", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0050881", - "HP:0008669", - "HP:0000505", - "UBERON:0006058", - "UBERON:0015203", - "UPHENO:0087022", - "UBERON:0001768", - "UBERON:0000991", - "NCBITaxon:131567", - "UBERON:0001981", - "UPHENO:0002406", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0005433", - "UBERON:0000990", - "UPHENO:0001003", - "UPHENO:0002332", - "UBERON:0015030", - "UBERON:0008784", - "UPHENO:0049970", - "HP:0001627", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0011137", + "HP:0012639", + "BFO:0000002", + "HP:0000481", + "UPHENO:0015280", + "HP:0001560", + "UPHENO:0075902", + "UBERON:0001007", + "UPHENO:0072194", + "UPHENO:0079876", "HP:0010468", "UPHENO:0076727", "UBERON:0003608", @@ -963,152 +960,82 @@ def search_response(): "UPHENO:0076739", "UPHENO:0005986", "CL:0002242", + "HP:0006501", + "HP:0001642", + "UPHENO:0005116", + "UBERON:0005181", "UBERON:0005291", "UPHENO:0081755", "UBERON:0002103", "UBERON:0003462", "NBO:0000411", "HP:0000163", - "HP:0008055", - "UPHENO:0041462", "UPHENO:0086201", - "HP:0000759", - "UPHENO:0076735", - "UPHENO:0078081", - "UBERON:0002495", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015063", "UPHENO:0080352", "HP:0025031", - "GO:0009888", - "HP:0000925", - "UPHENO:0075997", - "GO:0048598", - "UPHENO:0003055", - "GO:0008150", - "HP:0007565", - "UPHENO:0086700", - "UBERON:0003126", - "UBERON:0001009", - "UPHENO:0002830", - "CL:0000015", - "UBERON:0015228", - "UBERON:0002513", - "HP:0004362", - "GO:0032504", - "HP:0000078", - "UBERON:0000062", - "HP:0003468", - "UPHENO:0020950", - "UPHENO:0081424", - "UBERON:0000075", - "UPHENO:0087894", - "UPHENO:0002901", - "UPHENO:0021823", - "UPHENO:0085194", - "UPHENO:0081598", - "UBERON:0011595", - "UPHENO:0081608", - "UBERON:0001423", - "UBERON:0004176", - "UPHENO:0020748", - "UPHENO:0081584", - "UPHENO:0002595", - "HP:0012041", - "UBERON:0010313", - "HP:0000315", - "UBERON:0001004", - "HP:0000481", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001249", - "UBERON:0000479", - "UBERON:0001007", - "UPHENO:0072194", - "UPHENO:0079876", - "NCBITaxon:33208", - "UBERON:0011374", - "GO:0001843", - "UPHENO:0079839", - "UPHENO:0021672", - "HP:0012130", - "UBERON:0002405", - "NCBITaxon:2759", - "UPHENO:0076800", - "UBERON:0002386", - "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0003947", - "CL:0000019", - "UPHENO:0041591", - "UBERON:0002082", - "UPHENO:0084815", - "HP:0003026", - "UPHENO:0076957", - "UPHENO:0005651", - "UBERON:0005178", - "UBERON:0001436", - "UPHENO:0049701", + "UPHENO:0086621", + "HP:0010461", "UBERON:0000020", - "UPHENO:0080165", - "UPHENO:0087547", - "UBERON:0001638", - "CL:0000413", - "UPHENO:0041395", - "UBERON:0000922", - "UBERON:0007811", - "UPHENO:0084816", - "HP:0012252", - "UBERON:0000057", - "UPHENO:0088338", - "UPHENO:0077872", - "UBERON:0010409", - "UBERON:0002104", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "HP:0006501", - "HP:0001642", - "UBERON:0005181", - "UPHENO:0005116", - "UPHENO:0087665", - "HP:0000707", - "HP:0000795", - "HP:0011389", - "GO:0007276", - "UBERON:0004710", - "HP:0005773", - "UPHENO:0026028", - "UBERON:0001062", - "UPHENO:0085118", - "UBERON:0010358", - "UPHENO:0015303", - "UBERON:0010314", - "HP:0100691", - "GO:0003006", - "GO:0048609", - "UPHENO:0078267", + "HP:0000078", + "HP:0032251", + "UBERON:0001460", + "GO:0050881", + "HP:0008669", + "HP:0000505", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "UBERON:0001021", + "UPHENO:0031170", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0011159", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0086091", + "UPHENO:0002406", + "UPHENO:0082875", + "HP:0011355", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0012874", + "UBERON:0004529", + "UPHENO:0002598", + "UPHENO:0078729", + "UBERON:0002495", + "UBERON:0000463", + "UBERON:0015063", "UBERON:0010707", "UPHENO:0049985", + "UPHENO:0002595", + "UPHENO:0002992", + "HP:0007874", + "HP:0012041", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0087531", + "UPHENO:0086198", + "HP:0000539", + "HP:0000153", + "HP:0100491", + "UBERON:0001049", + "HP:0034261", + "UPHENO:0020641", + "UPHENO:0076692", + "HP:0011961", + "UBERON:0034923", "UBERON:0004054", "HP:0100736", "UPHENO:0087577", "UPHENO:0084834", - "UBERON:0034923", - "UPHENO:0020967", - "UBERON:0000473", - "UBERON:0000477", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0050101", - "UPHENO:0008523", - "UBERON:0010703", - "HP:0002823", + "UBERON:0001004", "UBERON:0002080", "UPHENO:0078452", "UBERON:0011779", @@ -1118,71 +1045,146 @@ def search_response(): "HP:0003022", "UPHENO:0026506", "GO:0032501", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0002075", - "UBERON:0012150", - "UBERON:0001486", - "CL:0000300", - "UPHENO:0020998", - "UBERON:0010538", - "UBERON:0005445", - "UPHENO:0046540", - "HP:0001626", - "GO:0000003", - "UPHENO:0087006", - "HP:0002119", - "GO:0048232", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005156", + "HP:0410043", + "UBERON:0000479", + "HP:0001249", + "UBERON:0001968", "HP:0001751", "HP:0000035", "UBERON:0001709", "UBERON:0016525", "UPHENO:0087973", "UPHENO:0075878", - "UPHENO:0077885", - "BFO:0000003", - "GO:0060429", - "UBERON:0000003", + "UPHENO:0033572", + "HP:0002246", "PR:000050567", - "HP:0000593", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0011159", - "UPHENO:0079872", - "UBERON:0002544", - "UPHENO:0076695", - "UBERON:0000060", - "UPHENO:0087585", - "UBERON:0016548", - "UPHENO:0088171", - "GO:0019953", - "UPHENO:0086091", - "HP:0001872", - "UBERON:0002100", - "UPHENO:0076675", - "HP:0012874", - "UBERON:0004529", - "HP:0005344", - "UBERON:0011582", - "UPHENO:0082467", - "UPHENO:0052178", - "HP:0010301", - "UPHENO:0031129", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0002635", - "HP:0030311", - "UPHENO:0075208", - "HP:0000811", - "HP:0004328", + "UPHENO:0075684", + "HP:0030680", + "UPHENO:0002448", + "UPHENO:0056237", + "HP:0012758", + "UBERON:0002193", + "UPHENO:0087846", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0001870", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "HP:0000315", + "UBERON:0010313", + "UPHENO:0001003", + "HP:0000759", + "UPHENO:0076735", + "UPHENO:0078081", "UBERON:0016879", - "BFO:0000040", + "UPHENO:0005433", + "UBERON:0005156", + "GO:0048232", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0010763", + "UBERON:0001009", + "UPHENO:0002830", + "CL:0000015", + "UBERON:0015228", + "UPHENO:0081598", + "UPHENO:0081608", + "UBERON:0011595", + "HP:0004362", + "UBERON:0002513", + "GO:0032504", + "UBERON:0001638", + "CL:0000413", + "UPHENO:0080165", + "UPHENO:0087547", "NBO:0000416", "HP:0001871", + "BFO:0000040", + "HP:0000152", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0041037", + "UPHENO:0078267", + "GO:0003006", + "GO:0048609", + "UPHENO:0081424", + "UBERON:0000075", + "UPHENO:0087894", + "UPHENO:0002901", + "HP:0011389", + "GO:0007276", + "UBERON:0004710", + "HP:0005773", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0088050", + "UBERON:0008784", + "UPHENO:0049970", + "HP:0001627", + "UBERON:0003126", + "UPHENO:0081584", + "UPHENO:0020748", + "UPHENO:0086700", + "UBERON:0002050", + "UBERON:0010703", + "HP:0002823", + "HP:0003468", + "UPHENO:0020950", + "UPHENO:0020967", + "UBERON:0000473", + "HP:0000234", + "UPHENO:0085873", + "UBERON:0002075", + "UBERON:0002544", + "UPHENO:0087585", + "UPHENO:0076695", + "UBERON:0000060", + "UBERON:0012150", + "UBERON:0001486", + "CL:0000300", + "UPHENO:0020998", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "HP:0001626", + "GO:0000003", + "UPHENO:0087006", + "HP:0002119", + "UBERON:0001436", + "UPHENO:0049701", + "UPHENO:0005651", + "UBERON:0005178", + "UPHENO:0026028", + "UPHENO:0015303", + "UBERON:0010314", + "HP:0100691", + "UPHENO:0075208", + "HP:0000811", + "HP:0004328", + "UPHENO:0041395", + "UBERON:0000922", + "UBERON:0007811", + "UPHENO:0084816", + "HP:0012252", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0000057", + "UPHENO:0088338", + "UBERON:0011215", + "GO:0048856", + "HP:0006503", + "UPHENO:0076800", + "UBERON:0002386", + "HP:0002778", + "HP:0000812", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0084763", + "UBERON:0001691", + "UPHENO:0075220", "UBERON:0002105", "UPHENO:0081792", "UBERON:0022303", @@ -1193,8 +1195,14 @@ def search_response(): "UBERON:0011250", "UBERON:0001690", "UBERON:0015410", - "UPHENO:0002678", - "UPHENO:0051003", + "HP:0011842", + "UBERON:0001440", + "UPHENO:0075696", + "UBERON:0006598", + "UBERON:0004908", + "HP:0012243", + "HP:0005607", + "UBERON:0007798", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", @@ -1203,10 +1211,25 @@ def search_response(): "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", @@ -1215,237 +1238,155 @@ def search_response(): "UPHENO:0002378", "UPHENO:0076765", "HP:0002086", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", "HP:0000478", - "UBERON:0000481", - "HP:0000957", + "UPHENO:0041079", + "UBERON:0019231", + "HP:0031703", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", "HP:0011314", "UBERON:0001819", "UBERON:0003657", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "HP:0010461", - "UPHENO:0086621", - "RO:0002577", - "HP:0000951", "HP:0000364", "GO:0009790", "UPHENO:0081574", "UPHENO:0086159", "UPHENO:0076730", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0005607", - "UBERON:0007798", - "HP:0002664", + "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", - "HP:0011793", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "UPHENO:0071334", - "HP:0000032", "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", - "UBERON:0015212", - "UPHENO:0087478", - "UBERON:0001558", - "GO:0048731", - "UBERON:0001043", - "HP:0001713", - "UBERON:0035554", - "UPHENO:0041410", - "UPHENO:0071309", - "UPHENO:0002725", - "HP:0012718", - "CL:0000039", - "UBERON:0013765", - "OBI:0100026", - "UPHENO:0086633", - "UBERON:0004119", - "UPHENO:0080209", + "GO:0072175", + "HP:0002060", + "GO:0007283", + "UPHENO:0082449", "UPHENO:0087802", - "UPHENO:0075684", - "HP:0030680", - "UPHENO:0002448", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", - "UPHENO:0021045", - "HP:0001000", - "UBERON:0012430", - "UPHENO:0035025", - "UPHENO:0080185", - "HP:0012373", - "UBERON:0002091", - "GO:0035239", - "HP:0000813", - "HP:0100542", - "UBERON:0000045", - "UPHENO:0002910", - "UBERON:0001272", - "GO:0007283", - "UPHENO:0082449", - "HP:0031703", - "UPHENO:0041079", - "UBERON:0019231", "UBERON:0010708", "GO:0050890", - "UBERON:0000019", "UBERON:0000073", + "UBERON:0000019", + "UPHENO:0080202", + "UBERON:0000995", + "UBERON:0010428", "GO:0050882", "UBERON:0013522", - "HP:0008438", - "UPHENO:0076798", - "UBERON:0010222", - "UPHENO:0076805", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0035148", - "HP:0000453", - "GO:0048729", - "UBERON:0016491", - "UBERON:0000033", - "UBERON:0006052", - "UPHENO:0033572", - "HP:0002246", - "HP:0001710", - "UPHENO:0087363", - "UBERON:0004375", - "GO:0009792", - "UBERON:5101463", - "GO:0007399", - "GO:0021915", - "HP:0002060", - "GO:0072175", - "UPHENO:0055730", - "UBERON:0005897", - "UBERON:0005174", - "UBERON:0010741", - "UPHENO:0041037", - "HP:0009121", - "HP:0005918", - "UBERON:0034944", - "UBERON:0011164", - "UPHENO:0075655", - "HP:0007874", - "UPHENO:0002992", - "UBERON:0002050", - "UBERON:0003914", - "UBERON:0003920", - "UBERON:0001801", - "UBERON:0010371", - "UPHENO:0015282", - "HP:0000366", - "UPHENO:0087307", - "UPHENO:0050034", - "HP:0003312", - "HP:0000119", - "GO:0043009", - "UBERON:0000061", - "UPHENO:0076803", - "GO:0001838", - "UBERON:0006717", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0002941", - "UPHENO:0019477", - "UPHENO:0076783", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", + "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", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UPHENO:0020809", - "UBERON:0002108", "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:0077889", - "UBERON:0000161", - "UPHENO:0086824", "UPHENO:0074228", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", "UPHENO:0021304", "HP:0010293", - "UBERON:0013702", - "HP:0002023", - "UBERON:0002355", - "UPHENO:0087509", - "HP:0006265", + "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", - "UPHENO:0033559", - "UPHENO:0082794", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "HP:0000174", - "UBERON:0003978", - "HP:0001159", - "UBERON:0005725", - "UPHENO:0086858", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005623", - "UPHENO:0087612", - "UBERON:0004288", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UBERON:0002389", - "HP:0001654", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0010795", "UPHENO:0002839", "UPHENO:0086614", "UBERON:0000915", @@ -1454,163 +1395,194 @@ def search_response(): "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", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", "UPHENO:0015327", "UBERON:0019221", + "UBERON:0002389", + "HP:0001654", + "HP:0030669", + "UBERON:0000117", + "UBERON:0034921", + "HP:0032039", + "UBERON:0010912", + "UPHENO:0086144", "HP:0000492", "UPHENO:0080382", "HP:0200006", "UBERON:0001474", "UPHENO:0063722", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0021791", + "UBERON:0000179", "UPHENO:0003085", "GO:0030154", "UBERON:0004573", "UBERON:0015052", - "HP:0032039", - "HP:0030669", - "UBERON:0010912", - "UPHENO:0086144", - "UPHENO:0021791", - "UBERON:0000179", "UBERON:0000014", "UPHENO:0086680", "UPHENO:0076761", + "UBERON:0000965", + "UBERON:0005389", + "UBERON:0000477", + "HP:0000517", + "UPHENO:0086633", + "UBERON:0004119", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0088132", "HP:0000518", "HP:0001924", "UPHENO:0018424", - "UBERON:0000965", "UPHENO:0087578", - "UBERON:0005389", "HP:0000508", "GO:0048468", "UPHENO:0087214", "GO:0060562", "UPHENO:0041644", "UPHENO:0041667", - "UPHENO:0086699", + "UPHENO:0021517", "UBERON:0010913", + "UPHENO:0086699", "UBERON:0005726", "UPHENO:0086628", - "UPHENO:0021517", "UPHENO:0063621", "HP:0010978", "UPHENO:0086100", - "UPHENO:0003048", - "HP:0005105", - "HP:0011994", - "UPHENO:0002907", - "UPHENO:0084447", - "HP:0100790", - "HP:0010935", - "UBERON:0002268", + "UBERON:0010323", + "UPHENO:0087814", + "UBERON:0007832", "UPHENO:0085330", "UBERON:0003129", "UPHENO:0002642", "UBERON:0010740", "UBERON:0000004", - "UPHENO:0063595", - "HP:0000929", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", + "UPHENO:0003048", + "UBERON:0002268", "HP:0000415", "HP:0100547", "HP:0000144", - "UPHENO:0075852", - "HP:0000080", - "UBERON:0001008", - "UBERON:0012241", - "UPHENO:0002790", + "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:0010936", - "UBERON:8450002", - "HP:0000079", + "HP:0200005", + "UPHENO:0065599", "HP:0010438", "HP:0000118", "UPHENO:0005995", "UPHENO:0020068", "UBERON:0007830", - "HP:0200005", - "UPHENO:0065599", - "HP:0000252", - "HP:0003272", + "HP:0007364", + "UPHENO:0080079", + "HP:0012130", + "UBERON:0002405", + "NCBITaxon:2759", + "UPHENO:0079839", + "UPHENO:0021672", + "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:0080200", "HP:0100886", "UPHENO:0020888", - "UBERON:0001893", - "UPHENO:0087518", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0004348", - "HP:0002715", - "UPHENO:0086045", - "UBERON:0001449", - "UBERON:0000178", - "HP:0011893", - "HP:0010987", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", + "HP:0000252", + "HP:0003272", "UPHENO:0088321", "UPHENO:0004459", "UPHENO:0003020", "UPHENO:0004536", "UPHENO:0003116", - "UBERON:0002390", + "HP:0004377", + "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", - "CL:0000255", - "CL:0000219", - "UPHENO:0002948", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", + "HP:0010987", + "HP:0011893", + "UBERON:0002390", "UPHENO:0085410", - "UPHENO:0001440", "UPHENO:0000541", "HP:0002031", "HP:0001373", "UBERON:0012476", "UPHENO:0000543", + "UPHENO:0001440", + "HP:0002624", + "UBERON:0002530", "UBERON:0002423", "UBERON:0002365", "UBERON:0002330", - "HP:0002012", - "UBERON:0015204", - "UPHENO:0080126", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000818", - "UPHENO:0084767", - "UBERON:0000916", "UBERON:0002417", "NBO:0000417", "HP:0000924", @@ -1619,26 +1591,38 @@ def search_response(): "UBERON:0002368", "CL:0000408", "UBERON:0005173", - "HP:0002624", - "UBERON:0002530", + "UBERON:0000916", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "HP:0002012", + "UBERON:0004092", "UPHENO:0002844", "UPHENO:0075995", - "UBERON:0004092", "UBERON:0000466", - "UBERON:0008785", - "UBERON:0000015", "UPHENO:0052675", "HP:0000316", + "UBERON:0008785", + "UBERON:0000015", "UPHENO:0042834", "UPHENO:0072195", "HP:0002814", "UBERON:0006800", "UPHENO:0049367", + "HP:0001197", + "UPHENO:0075949", + "UBERON:0000173", + "HP:0001562", + "NBO:0000313", + "HP:0002827", "UPHENO:0052231", "UPHENO:0081594", - "NCBITaxon:1", "UPHENO:0021474", "UPHENO:0087597", + "NCBITaxon:1", "UBERON:0002114", "UPHENO:0076748", "UBERON:0012152", @@ -1646,53 +1630,53 @@ def search_response(): "UBERON:0010696", "NBO:0000444", "UPHENO:0081344", - "UBERON:0000063", - "HP:0008056", - "UBERON:0007273", "HP:0002270", "UBERON:0015022", "UPHENO:0086866", "UBERON:0001445", - "HP:0011297", - "UBERON:0004248", "GO:0043473", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", "UBERON:0012142", "UBERON:0010758", "UBERON:0001890", "UPHENO:0081091", + "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", - "UPHENO:0087369", - "UPHENO:0082444", - "HP:0001639", - "UPHENO:0002896", - "UPHENO:0076806", + "UBERON:0010709", "HP:0040072", "UBERON:0004053", "UBERON:0001441", "UBERON:0015023", - "UPHENO:0081575", "UBERON:0001711", "UBERON:0003221", + "UPHENO:0087369", + "UPHENO:0081575", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", + "UPHENO:0033603", + "UBERON:0001466", "HP:0100760", - "UBERON:0010709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UBERON:0001769", - "UBERON:5002544", - "UBERON:0000154", - "HP:0031653", - "UBERON:0004122", - "HP:0009826", - "UPHENO:0033616", - "HP:0001384", "CL:0000763", "UPHENO:0049586", "UBERON:0010742", @@ -1700,228 +1684,244 @@ def search_response(): "HP:0040068", "UBERON:0002470", "UBERON:0012139", - "HP:0001824", - "UBERON:0004709", - "UPHENO:0033603", - "UBERON:0001466", - "UBERON:0000978", - "UPHENO:0087123", - "HP:0000077", - "UBERON:0002199", "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:0034768", - "UPHENO:0081570", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", - "UBERON:0002553", - "HP:0031816", - "UPHENO:0075843", - "HP:0000172", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0002553", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0004089", "UPHENO:0088088", + "UBERON:0034768", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UPHENO:0081570", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0080221", - "HP:0001034", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "HP:0000309", - "UPHENO:0082682", + "UPHENO:0021670", + "HP:0000553", + "UPHENO:0041664", + "UPHENO:0086817", + "UBERON:0000063", + "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", + "HP:0000593", "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:0008053", - "UPHENO:0022529", - "UPHENO:0054957", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", + "HP:0000309", + "UPHENO:0082682", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", "UPHENO:0080601", "UPHENO:0086172", "UPHENO:0074589", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0049940", - "UPHENO:0084761", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", "UBERON:0002384", "UBERON:0012141", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0084766", - "UPHENO:0080201", "UBERON:0003101", + "UPHENO:0080201", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0085371", + "UPHENO:0076723", "HP:0045060", + "CL:0000151", + "HP:0001510", + "HP:0001167", "HP:0008373", "HP:0005927", - "UPHENO:0085371", - "UPHENO:0076723", + "UPHENO:0084766", "UPHENO:0084653", "UBERON:0005451", "HP:0005922", "UPHENO:0082671", "UPHENO:0078179", + "UPHENO:0082835", "HP:0011849", "HP:0010469", "UBERON:0008202", "UPHENO:0082834", "HP:0004209", "UPHENO:0087203", - "UPHENO:0082835", "UBERON:0002412", "GO:0001503", - "HP:0011446", - "HP:0030084", + "HP:0009179", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", "HP:0000377", "HP:0004097", + "HP:0011446", + "HP:0030084", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UPHENO:0080369", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0076736", - "HP:0009179", "UBERON:5003625", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0081790", - "HP:0200007", - "HP:0009821", + "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:0001001", - "UPHENO:0087892", - "UPHENO:0060026", - "HP:0001367", + "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", - "NBO:0000313", - "HP:0002827", - "UBERON:0000982", - "UBERON:0005913", - "UBERON:0001271", + "UBERON:0003463", + "UPHENO:0060026", + "HP:0001367", "UBERON:0003828", "UPHENO:0075945", - "UBERON:0003463", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0001464", + "UPHENO:0001001", + "UPHENO:0087892", "UBERON:0008114", "UBERON:0007828", "UBERON:0003840", - "UPHENO:0087974", - "UBERON:0004770", - "HP:0002644", - "UBERON:5002389", - "UPHENO:0087558", "HP:0000271", "UBERON:0005893", + "UBERON:5002389", + "UPHENO:0087558", "UBERON:0001712", "UBERON:0001950", "UBERON:0003826", - "UBERON:0016526", - "UPHENO:0010795", - "UBERON:0001805", - "HP:0002251", - "UBERON:0004121", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0020258", - "UPHENO:0087121", - "UBERON:0002410", + "HP:0012331", ], "has_phenotype_closure_label": [ - "decreased biological_process in multicellular organism", "decreased qualitatively pigmentation in independent continuant", - "Hypopigmentation of the skin", - "decreased qualitatively biological_process 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 platelet", "abnormally decreased number of myeloid cell", - "abnormal blood cell", + "abnormally decreased number of platelet", "abnormal platelet", "anucleate cell", "secretory cell", + "abnormal blood cell", "obsolete cell", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "decreased size of the multicellular organism", "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", - "cellular developmental process", - "abnormal erythroid lineage cell morphology", "erythroid lineage cell", - "Sideroblastic anemia", - "Abnormal myeloid cell morphology", + "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", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", "homeostasis of number of cells", - "oxygen accumulating cell", - "Anemia of inadequate production", - "radius bone", + "cellular developmental process", "Abnormal morphology of the radius", - "aplasia or hypoplasia of radius bone", "abnormal radius bone morphology", + "aplasia or hypoplasia of radius bone", + "radius bone", "Neurodevelopmental delay", - "abnormal size of palpebral fissure", "decreased length of palpebral fissure", "Abnormal size of the palpebral fissures", - "Abnormality of immune system physiology", + "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", @@ -1935,178 +1935,167 @@ def search_response(): "abnormally decreased functionality of the gonad", "Cleft palate", "Craniofacial cleft", - "increased height of the anatomical entity", "increased height of anatomical entity in independent continuant", + "increased height of the anatomical entity", "High palate", - "Increased head circumference", "increased size of the head", + "Increased head circumference", + "skin of head", "increased length of the epicanthal fold", - "upper eyelid", - "zone of skin", "Epicanthus", - "skin of head", "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", - "abnormal facial skeleton morphology", - "Hypoplastic facial bones", + "mandible hypoplasia", + "bone element hypoplasia in face", + "decreased size of the mandible", + "bone of lower jaw", + "lower jaw region", "facial skeleton", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "bone of lower jaw", - "mandible hypoplasia", - "abnormal mandible morphology", "Abnormal mandible morphology", - "lower jaw region", "facial bone hypoplasia", - "decreased size of the mandible", - "bone element hypoplasia in face", + "anatomical entity hypoplasia in face", + "abnormal mandible morphology", + "Hypoplastic facial bones", + "abnormal facial skeleton morphology", "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", "abnormal sensory perception of sound", - "Hearing abnormality", "sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", "Abnormal conjugate eye movement", "Strabismus", - "sensory perception of light stimulus", - "abnormal sensory perception of light stimulus", "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", - "Abnormality of globe size", - "Abnormality of eye movement", "cranial nerve related reflex", - "Abnormal vestibulo-ocular reflex", "Abnormal vestibular function", + "Abnormality of eye movement", "abnormality of ear physiology", + "eye movement", "abnormal eye movement", "abnormal physiologic nystagmus", - "eye movement", "abnormal vestibulo-ocular reflex", - "shape uterus", - "abnormal uterus", - "female organism", + "Abnormal vestibulo-ocular reflex", "internal female genitalia", "abnormal internal female genitalia morphology", - "Abnormality of the female genitalia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "female organism", + "abnormal uterus", "abnormal female reproductive system", - "oviduct", "bicornuate anatomical entity", - "uterus", + "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", + "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", - "manual digit 1 digitopodial skeleton", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "manual digit 1", "abnormal female reproductive system morphology", "digit 1 digitopodial skeleton", "skeleton of manual acropodium", "skeleton of manual digitopodium", - "Bicornuate uterus", - "abnormal behavior", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", "body part movement", "neuromuscular process", "voluntary musculoskeletal movement", "kinesthetic behavior", - "increased qualitatively response to stimulus", - "abnormal voluntary musculoskeletal movement", - "Hyperreflexia", - "reflex", + "multicellular organismal movement", "Abnormality of movement", + "abnormal voluntary musculoskeletal movement", "Recurrent urinary tract infections", "involuntary movement behavior", - "multicellular organismal movement", + "Bicornuate uterus", + "abnormal behavior", + "Hyperreflexia", + "increased qualitatively response to stimulus", + "reflex", "abnormal response to external stimulus", "decreased embryo development", "abnormal embryo development", - "Abnormal umbilicus morphology", - "Hernia", - "Hernia of the abdominal wall", + "herniated abdominal wall", "Abnormality of connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", "Abnormality of the abdominal wall", + "Hernia", + "herniated anatomical entity", + "Hernia of the abdominal wall", + "Abnormal umbilicus morphology", "umbilicus", "connective tissue", - "herniated anatomical entity", - "herniated abdominal wall", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "abnormal amniotic fluid", - "Abnormality of prenatal development or birth", - "Renal insufficiency", - "late embryo", - "Oligohydramnios", - "amniotic fluid", + "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", - "abnormal cardiac atrium morphology", - "abnormal interatrial 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", - "interventricular septum", "abnormal hematopoietic cell morphology", "Abnormal connection of the cardiac segments", - "abnormally increased volume of anatomical entity", "Ventricular hypertrophy", "abnormal pulmonary valve morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "cardiac septum", + "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", - "abnormal cardiac septum morphology", - "hypertrophic cardiac ventricle", "hypertrophic heart right ventricle", + "heart layer", "Abnormal myocardium morphology", "layer of muscle tissue", "abnormal myocardium morphology", - "heart layer", "abnormal abdominal wall", "embryonic cardiovascular system", "heart vasculature", "response to stimulus", "ductus arteriosus", - "abnormal coronary vessel morphology", "abnormal number of anatomical enitites of type myeloid cell", "thoracic segment blood vessel", "coronary vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", + "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", "abnormal incomplete closing of the ductus arteriosus", @@ -2115,187 +2104,175 @@ def search_response(): "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", - "aorta", "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", - "shape longitudinal arch of pes", "Pes planus", "flat anatomical entity", - "abnormally fused anatomical entity and pedal digit", "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", - "neurocranium bone", "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", - "neurocranium", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal head bone morphology", - "abnormal shape of frontal cortex", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", "abnormal vault of skull", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", + "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", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", "vertebral column", - "vertebra", + "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 neural tube 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", - "tube formation", - "neural tube", - "presumptive structure", "Abnormality of the inner ear", "abnormal vertebral column morphology", - "face", - "aplasia or hypoplasia of manual digit", - "Abnormality of the vasculature", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "Vertebral arch anomaly", + "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 systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal common carotid artery plus branches morphology", - "jaw region", - "artery", - "abnormal anatomical entity 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", - "Abnormality of the orbital region", - "roof of mouth", "paralysed cranial nerve", - "Abnormal cranial nerve physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal neocortex morphology", - "decreased biological_process", - "Eukaryota", - "Eumetazoa", - "Aplasia/Hypoplasia affecting the uvea", - "anterior uvea", - "vestibulo-auditory system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "head bone", - "shape digit", - "multi-tissue structure", - "bodily fluid", - "abnormal peripheral nervous system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "appendage girdle complex", - "subdivision of head", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "Abnormal morphology of ulna", - "Aplasia/Hypoplasia of the iris", - "mouth", - "spinal cord", - "appendicular skeleton", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "abnormally formed anatomical entity", - "absent sperm", + "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", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "Abnormality of limbs", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "appendage girdle complex", + "subdivision of head", "ulna endochondral element", "abnormal shape of cornea", "abnormal forebrain morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "neural tube formation", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "Anal atresia", - "postcranial axial skeletal system", - "Clubbing of toes", - "Abnormal uvea 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", - "zeugopod", - "skeletal element", + "Abnormal forebrain morphology", "paired limb/fin", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "bone element", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal digestive system morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", "septum", "Abnormality of limb bone morphology", - "Abnormal forearm bone morphology", - "root", - "Abnormal forebrain morphology", "developing anatomical structure", "skeleton of limb", "forelimb zeugopod skeleton", @@ -2303,51 +2280,75 @@ def search_response(): "subdivision of oviduct", "limb bone", "pectoral appendage skeleton", - "Abnormal blood vessel morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", + "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 vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", "abnormal cardiovascular system", "Abnormal reproductive system morphology", "abnormal blood vessel morphology", "abnormal parasympathetic nervous system morphology", "abnormal embryo morphology", "Abnormal venous morphology", - "Aplasia/Hypoplasia affecting the eye", "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", - "Abnormality of the forehead", - "intromittent organ", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", "organism", "secondary palate", - "penis", - "Orofacial cleft", - "digestive system element", "autopod bone", "Neurodevelopmental abnormality", "manual digit phalanx endochondral element", @@ -2357,30 +2358,11 @@ def search_response(): "abnormal cardiovascular system morphology", "Abnormality of mental function", "nervous system process", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "abnormality of internal male genitalia physiology", - "decreased length of forelimb zeugopod bone", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", + "skeleton of digitopodium", "Abnormal preputium morphology", - "Neural tube defect", - "organ system subdivision", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", "forelimb bone", "Abnormal uvula morphology", - "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", "ventricular system of central nervous system", "Abnormal shape of the frontal region", "central nervous system", @@ -2391,6 +2373,14 @@ def search_response(): "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", @@ -2398,53 +2388,56 @@ def search_response(): "abnormal heart layer morphology", "Abnormal frontal bone morphology", "Abnormality of lower limb joint", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", + "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", - "cerebrospinal fluid", "abnormal nervous system", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "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", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal voluntary movement behavior", - "tissue", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", + "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", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "embryo", - "Absent testis", - "exocrine system", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", "phenotype by ontology source", "Abnormality of the male genitalia", "Abnormality of blood and blood-forming tissues", @@ -2454,150 +2447,57 @@ def search_response(): "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", - "anatomical system", - "upper digestive tract", - "dorsum", - "cranial nerve", - "testis", - "reproductive structure", - "abnormal ulna morphology", - "gonad", - "Decreased anatomical entity mass density", - "ganglion", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "iris", - "absent gamete", - "naris", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "internal male genitalia", - "digestive system", - "curved anatomical entity", - "decreased length of long bone", - "material entity", - "increased reflex", - "long bone", + "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", - "system process", - "male gamete", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "entire sense organ system", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "organ", - "pedal digit plus metapodial segment", - "occurrent", - "abnormal male reproductive organ morphology", - "pedal digit phalanx endochondral element", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "sensory system", - "absent sperm in the independent continuant", - "pelvic region element", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "reproduction", - "vessel", - "lateral structure", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "All", - "Abnormal bone structure", - "male reproductive organ", - "abnormal blood cell morphology", - "abnormal cell", - "disconnected anatomical group", - "upper limb segment", - "biological_process", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "delayed biological_process", - "systemic artery", - "organism substance", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal leukocyte morphology", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "neuron projection bundle", - "Abnormal spinal cord morphology", - "external male genitalia", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "independent continuant", - "anatomical line between pupils", - "abnormal number of anatomical enitites of type anatomical entity", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "hepatobiliary system", - "subdivision of skeletal system", - "Abnormal external genitalia", "pulmonary valve", "cellular organisms", "vertebral element", @@ -2605,54 +2505,144 @@ def search_response(): "bone of free limb or fin", "abnormal pedal digit morphology", "abnormal ear", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "abnormal gamete generation", - "Abnormality of the curvature of the cornea", + "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", - "limb", - "respiratory system", - "hip joint", + "abnormal peripheral nervous system morphology", + "bodily fluid", + "multi-tissue structure", "abnormal ear morphology", "abnormal number of anatomical enitites of type sperm", - "Abnormality of the cardiovascular system", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "dorsal region element", - "abnormal opening of the anatomical entity", + "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", - "multicellular anatomical structure", - "hematopoietic system", "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", - "internal genitalia", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal tracheobronchial tree morphology", "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Abnormal ear morphology", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "abnormal internal genitalia", - "ocular surface region", + "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", @@ -2663,80 +2653,24 @@ def search_response(): "anus atresia", "abnormal skull morphology", "Short long bone", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "neural tube development", - "external genitalia", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal limb bone morphology", - "tunica fibrosa of eyeball", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "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", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormal esophagus morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "process", + "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", - "Abnormality of the nose", - "developmental process involved in reproduction", "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", "aplasia or hypoplasia of anatomical entity", "limb long bone", "compound organ", "eye", - "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 anterior uvea morphology", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "cerebral cortex", - "tracheobronchial tree", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the peripheral nervous system", - "trunk region element", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", + "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", @@ -2744,53 +2678,129 @@ def search_response(): "Short palpebral fissure", "Abnormal skeletal morphology", "increased pigmentation", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal bone element mass density", - "main body axis", - "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", - "external soft tissue zone", - "digit plus metapodial segment", - "head", + "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", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal heart morphology", - "appendage girdle region", - "anatomical structure morphogenesis", - "abnormal limb bone", - "abnormal spinal cord morphology", - "Hypogonadism", - "arm bone", - "urethral opening", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "sense organ", + "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", - "abnormality of camera-type eye physiology", - "organism subdivision", "subdivision of digestive tract", "Abnormal pinna morphology", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "respiratory airway", - "abnormal secondary palate 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", @@ -2802,28 +2812,45 @@ def search_response(): "anterior chamber of eyeball", "abnormal development of anatomical entity", "increased biological_process", - "abnormal postcranial axial skeleton morphology", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "embryo development", - "brain gray matter", - "Abnormal tracheobronchial morphology", + "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", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", + "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", @@ -2831,10 +2858,6 @@ def search_response(): "Short stature", "Abnormality of the vertebral column", "abnormal digestive system", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal morphology of the great vessels", - "pectoral complex", "flat longitudinal arch of pes", "abnormal bone of pectoral complex morphology", "orifice", @@ -2842,6 +2865,27 @@ def search_response(): "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", @@ -2857,192 +2901,121 @@ def search_response(): "Aplasia/Hypoplasia of the testes", "left cardiac chamber", "Slanting of the palpebral fissure", - "Hip dislocation", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal long bone morphology", - "digitopodium bone", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "lower respiratory tract", - "visual system", - "abnormal camera-type eye morphology", + "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", "orbital region", - "multicellular organism development", - "Ventriculomegaly", - "Abnormal anterior eye segment morphology", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal bony vertebral centrum morphology", "abnormal alimentary part of gastrointestinal system", "Abnormal carotid artery morphology", "Astigmatism", - "circulatory organ", - "uvea", - "shape cornea", - "paired limb/fin segment", "pelvic girdle region", - "simple eye", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", "abnormal posterior nasal aperture morphology", "curvature anatomical entity", + "abnormal camera-type eye morphology", "abnormal orbital region", - "morphogenesis of an epithelium", - "epithelial tube morphogenesis", - "abnormal palpebral fissure", - "abnormal tube formation", - "circulatory system", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "multicellular organismal-level homeostasis", - "anterior segment of eyeball", - "chordate embryonic development", - "skeleton of digitopodium", - "embryonic epithelial tube formation", - "cranium", - "dermatocranium", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "neural tube closure", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "manus", - "abnormal nose morphology", - "embryonic tissue", - "ileum", - "Ventricular septal defect", - "small intestine", - "Abnormal jaw morphology", - "irregular bone", - "Meckel diverticulum", - "trunk bone", - "Azoospermia", - "Abnormal small intestine morphology", - "skeleton of lower jaw", - "abnormal small intestine", + "abnormal bony vertebral centrum morphology", + "simple eye", "anus", "Abnormal skull morphology", - "Abnormal anus morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "abnormal anus", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", "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", - "Weight loss", - "Decreased body weight", - "autopodial extension", "growth", "cardiac valve", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", + "Decreased body weight", + "autopodial extension", "abnormal forelimb zeugopod bone", "valve", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", "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", "gamete", "upper jaw region", - "Abnormal eyelid morphology", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "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", - "palpebral fissure", "Abnormal ocular adnexa morphology", - "Upslanted palpebral fissure", - "manual digit plus metapodial segment", - "Abnormal bone ossification", + "Abnormal eyelid morphology", "female reproductive organ", "ocular adnexa", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", - "opaque anatomical entity", + "palpebral fissure", + "abnormal lens of camera-type eye morphology", + "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "Cataract", - "abnormal lens of camera-type eye morphology", - "Atrial septal defect", - "drooping anatomical entity", + "opaque anatomical entity", "clavate digit", "shape eyelid", + "Atrial septal defect", + "drooping anatomical entity", "Ptosis", "Abnormal cornea morphology", "gland", - "abnormal artery morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal penis morphology", - "abnormal cranium morphology", "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", + "cranial skeletal system", + "nose", + "endocrine gland", + "sperm", + "internal naris", "Neoplasm by anatomical site", "olfactory system", "Abnormality of the nervous system", @@ -3051,81 +3024,66 @@ def search_response(): "bony vertebral centrum", "abnormal olfactory system morphology", "abnormal nose", - "sperm", - "internal naris", - "olfactory organ", - "cranial skeletal system", - "nose", - "endocrine gland", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", "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", - "excretory system", - "abnormal urethra", - "renal system", "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", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", - "Scoliosis", "Abnormal curvature of the vertebral column", - "tube closure", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", + "Scoliosis", + "root", "regional part of nervous system", "Abnormal midface morphology", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Abnormal vascular morphology", - "Abnormality of skull size", + "Decreased head circumference", + "Metazoa", + "abnormal parasympathetic ganglion morphology", "Abnormal pulmonary valve morphology", - "abnormal anterior chamber of eyeball morphology", "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal anterior chamber of eyeball morphology", "telencephalon", - "Decreased head circumference", + "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", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", "abnormality of renal system physiology", "abnormal esophagus morphology", "abnormal size of anatomical entity", - "Leukopenia", - "abnormal hematopoietic system", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal number of anatomical enitites of type hematopoietic cell", "digit 1 plus metapodial segment", "synovial joint", "Abnormality of the anus", @@ -3134,26 +3092,32 @@ def search_response(): "abnormally decreased number of cell", "Functional abnormality of the inner ear", "pedal digit", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", + "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", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "Myelodysplasia", + "haemolymphatic fluid", + "abnormal hematopoietic system", + "delayed growth", "abnormal immune system morphology", "Hematological neoplasm", "Reduced bone mineral density", - "abnormal size of brain ventricle", - "nerve", - "Frontal bossing", - "zone of organ", - "increased size of the brain ventricle", + "Myelodysplasia", "Abnormality of vision", "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", @@ -3162,43 +3126,63 @@ def search_response(): "pedal digit bone", "cardiac atrium", "Abnormality of the integument", - "delayed growth", + "abnormal size of brain ventricle", + "zone of organ", + "increased size of the brain ventricle", + "liver", + "abnormal endocrine system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", "Abnormality of the endocrine system", "forelimb", "skeleton of pelvic complex", - "abnormal endocrine system", "abdominal segment of trunk", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "glandular system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", - "Decreased fertility", + "Abnormality of the liver", "behavior", "abdomen element", - "Abnormality of the liver", - "liver", + "glandular system", "abnormal hypothalamus-pituitary axis", - "increased anatomical entity length in independent continuant", - "Hypertelorism", + "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", + "Hypertelorism", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", "immaterial anatomical entity", "abnormal anatomical entity, curved", "anatomical line", - "non-material anatomical boundary", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", + "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", - "duodenum", - "Abnormality of the lower limb", + "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", @@ -3207,73 +3191,104 @@ def search_response(): "skeleton of pes", "abnormal incomplete closing of the interventricular septum", "Abnormal toe morphology", - "pes", - "abnormal phalanx morphology", - "Choanal atresia", - "acropodial skeleton", - "digitopodium region", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", "Duodenal stenosis", "Abnormal foot morphology", "Hypermelanotic macule", - "digit", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "abnormal digit morphology", - "shape forehead", - "posterior region of body", - "individual digit of digitopodial skeleton", - "phalanx endochondral element", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal digit", "leg", "abnormally decreased number of anatomical entity in the blood", "phalanx of pes", + "abnormal long bone morphology", + "digitopodium bone", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", "phalanx", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal autopod region morphology", - "nervous system cell part layer", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", "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", + "digitopodium region", "genitourinary system", "Limb undergrowth", - "Abnormality of the kidney", "abnormal kidney morphology", "skull", "femur", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormality of the kidney", "Decreased fertility in males", - "primary circulatory organ", - "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", + "prominent anatomical entity", + "abnormal roof of mouth morphology", "anatomical projection", + "abnormal midface morphology", + "mouth", + "Aplasia/Hypoplasia of the iris", + "Abnormal oral cavity morphology", "Abnormal aortic valve morphology", "midface", "abnormal soft palate morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", "Abnormal soft palate morphology", "shape palpebral fissure", "abnormal palatine uvula morphology", "anatomical cavity", - "abnormal midface morphology", - "palatine uvula", - "Abnormal erythrocyte morphology", - "soft palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal asymmetry of face", - "abnormal integument", + "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", + "Abnormal hip joint morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "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", "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", @@ -3284,78 +3299,66 @@ def search_response(): "abnormal cell morphology", "anatomical collection", "Macule", + "abnormal cornea, curved", + "pigmentation", "eyeball of camera-type eye", "abnormal upper urinary tract", "abnormal skin of body", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", "Abnormality of skin morphology", - "integument", "abnormality of kidney physiology", "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "increased biological_process in skin of body", - "abnormal cornea, curved", - "pigmentation", - "increased pigmentation in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal manus", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the hand", "skeleton of manus", + "Aplasia/Hypoplasia of fingers", "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "Aplasia/Hypoplasia of fingers", - "abnormal manus", "decreased pigmentation in skin of body", "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/hypoplasia involving the skeleton", - "abnormal manus morphology", "vascular system", "abnormal anterior segment of eyeball morphology", "aplasia or hypoplasia of skeleton", + "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", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", "appendage", "abnormally fused digit and digit", "Clinodactyly of the 5th finger", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", "biogenic amine secreting cell", "ossification", "Abnormality of bone mineral density", - "manual digit 5", "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", "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", - "deviation of digit towards the middle", - "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 manual digit", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "manual digit 5", "hypertrophic multicellular anatomical structure", "dermal skeletal element", "decreased length of anatomical entity in independent continuant", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "forelimb zeugopod bone hypoplasia", + "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", @@ -3363,92 +3366,101 @@ def search_response(): "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", "increased height of the secondary palate", "Tetralogy of Fallot", "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "articulation", - "skeletal joint dislocation", - "articular system", - "peripheral nervous system", - "abnormal hip joint morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", + "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", - "skin of body", + "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", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "abnormal hindlimb stylopod morphology", - "Abnormality of femur 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", - "stylopod", - "upper leg bone", + "Abnormality of femur morphology", "Abnormality of enteric ganglion morphology", - "Unusual infection", - "abnormal enteric ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "enteric ganglion", + "abnormal intestine morphology", "abnormal face morphology", "axial skeletal system", - "abnormal intestine morphology", "autonomic ganglion", - "parasympathetic nervous system", - "Abnormality of the autonomic nervous system", - "autonomic nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", + "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 vascular system morphology", - "cortex of cerebral lobe", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "abnormal roof of mouth morphology", - "prominent anatomical entity", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology", ], }, { - "id": "MONDO:0060778", + "id": "MONDO:0001083", "category": "biolink:Disease", - "name": "adult Fanconi syndrome", - "xref": ["NCIT:C4377"], + "name": "Fanconi renotubular syndrome", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624", + ], "provided_by": "phenio_nodes", - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "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:0003581", "HP:0012823", "HP:0000001", "HP:0003674", "HP:0031797"], - "has_phenotype_closure_label": [ - "Clinical course", - "All", - "Adult onset", - "Clinical modifier", - "Onset", + "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", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", + "Lignac-Fanconi syndrome", + "adult Fanconi syndrome", + "congenital Fanconi syndrome", + "deToni Fanconi syndrome", + "infantile nephropathic cystinosis", + "toni-debre-Fanconi syndrome", ], + "namespace": "MONDO", + "has_phenotype_count": 0, }, { "id": "MONDO:0009217", @@ -3469,458 +3481,446 @@ def search_response(): ], "has_phenotype_count": 5, "has_phenotype_closure": [ - "HP:0001574", + "HP:0002664", "UBERON:0004121", - "HP:0007606", - "HP:0011793", + "UPHENO:0002635", "UBERON:0002097", "UBERON:0002199", "UBERON:0002416", - "HP:0002664", - "UPHENO:0002635", + "HP:0001574", + "HP:0007606", + "HP:0011793", + "UBERON:0000479", + "UPHENO:0084987", + "UPHENO:0011498", + "HP:0025354", + "UPHENO:0085118", + "UPHENO:0086172", + "UPHENO:0085144", + "HP:0001876", + "UBERON:0002371", "UPHENO:0085302", "HP:0032251", - "HP:0001876", - "UPHENO:0085195", - "UPHENO:0084928", - "UPHENO:0076675", "CL:0002242", - "UPHENO:0086005", - "CL:0000219", "CL:0001035", "UBERON:0002193", "CL:0000225", - "CL:0000255", - "UPHENO:0011498", - "HP:0025354", - "CL:0000151", "HP:0011873", - "UBERON:0002371", - "UPHENO:0087123", - "HP:0011842", - "UPHENO:0063722", + "CL:0000151", + "CL:0000255", + "UPHENO:0077426", + "UPHENO:0086173", + "HP:0011893", + "HP:0020047", + "UPHENO:0085195", "HP:0001872", - "HP:0012145", - "UPHENO:0084987", + "UPHENO:0063722", + "CL:0000219", + "UPHENO:0086005", + "UPHENO:0084928", "UPHENO:0085068", "UPHENO:0006910", "UPHENO:0086049", - "UPHENO:0085118", - "UPHENO:0086172", - "UBERON:0000479", + "UPHENO:0085984", + "UPHENO:0076675", + "CL:0000232", + "CL:0000458", + "CL:0000763", + "CL:0000738", + "UPHENO:0086045", "HP:0005561", "UPHENO:0087355", + "UPHENO:0087123", + "HP:0011842", + "CL:0002092", + "HP:0012145", + "CL:0000233", + "UPHENO:0004459", "HP:0011875", "UPHENO:0088166", "UPHENO:0076703", - "CL:0002092", - "UPHENO:0085144", - "HP:0011893", - "HP:0020047", - "UPHENO:0004459", - "CL:0000233", - "CL:0000232", - "CL:0000458", - "CL:0000763", - "UPHENO:0085371", "CL:0000457", - "CL:0000738", - "UPHENO:0086045", - "UPHENO:0085984", - "UPHENO:0077426", - "UPHENO:0086173", - "NCBITaxon:33154", + "UPHENO:0085371", + "HP:0002107", "NCBITaxon:6072", - "BFO:0000020", - "BFO:0000015", "HP:0008069", "UBERON:0001474", "HP:0005939", - "CL:0000000", - "UPHENO:0054970", - "HP:0002719", - "BFO:0000004", - "UBERON:0001005", - "UPHENO:0080377", - "UBERON:0001062", - "UBERON:0000042", - "UBERON:0002204", - "UBERON:0004765", - "UBERON:0034923", - "UPHENO:0081440", "BFO:0000040", "UPHENO:0074624", "UBERON:0015212", - "UPHENO:0083263", - "UBERON:0000468", - "UPHENO:0001005", - "UBERON:0002390", - "GO:0006954", - "HP:0002754", + "NCBITaxon:33154", + "UBERON:0010000", "HP:0010978", + "HP:0002754", "UPHENO:0002964", "HP:0000951", "HP:0012252", - "GO:0006952", - "HP:0002715", - "UBERON:0000025", - "CL:0000329", - "HP:0012647", - "UPHENO:0081590", - "UPHENO:0003811", - "UPHENO:0082682", + "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", - "HP:0010987", - "UBERON:0000977", - "HP:0000924", + "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", - "BFO:0000001", - "UPHENO:0080662", - "UBERON:0004120", - "UPHENO:0001002", - "UPHENO:0074687", - "UPHENO:0080693", - "UPHENO:0080221", - "UPHENO:0074685", - "UBERON:0000481", - "UPHENO:0002332", - "HP:0033127", - "UPHENO:0059829", - "UBERON:0002405", - "NCBITaxon:2759", "UBERON:0000061", "HP:0001881", "UPHENO:0085344", "HP:0002205", "UBERON:0000065", - "UBERON:0000467", - "UBERON:0002100", - "UBERON:0011216", - "UBERON:0001434", - "HP:0011843", - "HP:0002088", - "UPHENO:0001003", - "HP:0000118", - "UBERON:0000064", - "UPHENO:0086908", + "UPHENO:0003811", + "UPHENO:0082682", + "BFO:0000004", + "UBERON:0001005", "UPHENO:0001001", + "UPHENO:0086908", "UPHENO:0002263", - "UPHENO:0082875", - "UBERON:0010000", + "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", "CL:0000764", "UPHENO:0074572", "NCBITaxon:1", + "UBERON:0001434", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UPHENO:0082875", "UPHENO:0002948", "UPHENO:0049588", - "UPHENO:0002536", - "UPHENO:0002448", - "UBERON:0015203", - "UBERON:0005906", - "CL:0000988", - "UBERON:0000465", - "UPHENO:0082723", - "UPHENO:0015280", + "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:0087339", - "UPHENO:0087433", - "UPHENO:0076684", - "UBERON:0001558", "UBERON:0013701", "CL:0000081", "UBERON:0009569", - "UBERON:0000475", - "UPHENO:0020748", - "UBERON:0000062", "HP:0002086", "HP:0002783", + "UBERON:0004119", + "UBERON:0000170", + "HP:0001873", + "UBERON:0013702", + "UPHENO:0019970", + "GO:0008150", + "HP:0002795", "UPHENO:0004536", - "UBERON:0003103", - "GO:0050896", - "UPHENO:0049584", - "HP:0012649", - "UBERON:0000060", - "UBERON:0011676", - "UBERON:0000072", + "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", "UBERON:0004111", "UBERON:0005178", - "HP:0032101", - "HP:0001871", - "UPHENO:0049586", - "UPHENO:0075696", - "HP:0002103", - "UBERON:0005181", - "HP:0025461", - "UPHENO:0085189", - "NCBITaxon:33208", - "UBERON:0000077", - "UBERON:0002075", - "HP:0001873", - "UBERON:0013702", - "UPHENO:0019970", - "GO:0008150", - "HP:0002795", "UBERON:0034925", - "UBERON:0002048", - "UBERON:0000171", - "UBERON:0005177", - "UBERON:0004119", - "UBERON:0000170", - "HP:0002107", + "UBERON:0003103", + "UPHENO:0049584", + "GO:0050896", + "HP:0012649", + "UBERON:0000060", + "UBERON:0000062", + "UBERON:0009778", + "HP:0010987", + "HP:0000924", + "UBERON:0000977", "GO:0006950", "NCBITaxon:131567", - "UBERON:0009778", ], "has_phenotype_closure_label": [ "Abnormality of the skin", + "Neoplasm by anatomical site", + "Neoplasm", + "integumental system", "Multiple cutaneous malignancies", "Neoplasm of the skin", - "integumental system", - "Neoplasm", - "Neoplasm by anatomical site", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "bone marrow", "cell", - "Pancytopenia", "Abnormal immune system morphology", + "Pancytopenia", "serotonin secreting cell", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal bone marrow cell", - "Abnormal cell morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "bone marrow", - "abnormal bone marrow cell morphology", - "skeletal element", - "abnormal hematopoietic system morphology", - "abnormally decreased number of cell", - "bone element", "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", - "platelet", - "Abnormal cellular immune system morphology", - "erythrocyte", - "leukocyte", - "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", "abnormal platelet", - "Abnormality of bone marrow cell morphology", - "bone cell", + "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", - "abnormal leukocyte morphology", + "abnormal hematopoietic system morphology", + "Abnormal cellular 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", - "increased biological_process in independent continuant", + "non-connected functional system", + "increased qualitatively inflammatory response", + "subdivision of tube", + "Abnormal leukocyte morphology", + "response to stimulus", "changed biological_process rate in independent continuant", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Eukaryota", - "bone marrow cell", - "hematopoietic system", - "Abnormality of the skeletal system", - "anatomical entity", - "Abnormal inflammatory response", + "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", - "increased inflammatory response in bone element", - "abnormally decreased number of myeloid cell", - "compound organ", - "abnormal anatomical entity", - "occurrent", - "Osteomyelitis", - "anucleate cell", - "phenotype by ontology source", - "abnormal cell", - "Abnormal respiratory system physiology", - "increased qualitatively biological_process in independent continuant", - "anatomical structure", - "anatomical conduit", - "increased qualitatively response to stimulus", - "Thrombocytopenia", - "Abnormality of immune system physiology", - "viscus", - "abnormal immune system morphology", - "Eumetazoa", - "defense response", - "Abnormality of the integument", - "protein-containing material entity", - "motile cell", - "independent continuant", - "material entity", + "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", - "biological_process", + "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", - "Increased inflammatory response", - "tissue", - "continuant", - "entity", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type cell", - "increased inflammatory response in independent continuant", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "multicellular organism", - "Abnormal myeloid cell morphology", - "changed biological_process rate", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "lateral structure", - "skin of body", - "skeletal system", - "abnormal skin of body", - "musculoskeletal system", - "Abnormal pleura morphology", - "non-connected functional system", - "increased qualitatively inflammatory response", - "subdivision of tube", - "abnormal inflammatory response", - "Abnormal leukocyte morphology", - "response to stimulus", "Abnormal skeletal morphology", "abnormal response to stimulus", - "abnormal skeletal system", - "increased biological_process", + "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", "integument", "eukaryotic cell", "increased qualitatively inflammatory response in independent continuant", "inflammatory response", "specifically dependent continuant", - "organ system subdivision", - "response to stress", - "ectoderm-derived structure", - "proximo-distal subdivision of respiratory tract", - "increased qualitatively biological_process", - "pleural sac", - "biogenic amine secreting cell", - "Abnormal musculoskeletal physiology", - "Abnormal platelet count", - "abnormal platelet morphology", - "material anatomical entity", + "biological_process", + "tissue", + "continuant", "erythroid lineage cell", "multicellular anatomical structure", - "anatomical system", - "Abnormality of thrombocytes", - "organ", - "organism", + "abnormal skeletal system", + "increased biological_process", + "abnormal immune system morphology", + "Eumetazoa", + "defense response", + "Abnormality of the integument", + "protein-containing material entity", + "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", + "blood cell", + "respiration organ", + "pair of lungs", + "trunk region element", + "thoracic segment organ", + "anatomical collection", "abnormal respiratory system morphology", - "Abnormal lung morphology", - "abnormal anatomical entity morphology in the independent continuant", - "organ part", - "Recurrent respiratory infections", - "respiratory system", - "Multiple bilateral pneumothoraces", "main body axis", "abnormally decreased number of hematopoietic cell", "serous membrane", "abnormal biological_process in independent continuant", "Unusual infection", - "Metazoa", "Abnormality of the immune system", "multi-tissue structure", - "Recurrent infections", + "Metazoa", "abnormal blood cell", "abnormal response to stress", "subdivision of trunk", "Abnormal respiratory system morphology", - "Abnormality of the respiratory system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Recurrent lower respiratory tract infections", - "endoderm-derived structure", - "pair of lungs", - "blood cell", - "respiration organ", + "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", - "thoracic segment organ", - "anatomical collection", - "trunk region element", - "body proper", "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", + "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", - "All", - "abnormal lung morphology", - "tube", - "Pneumothorax", - "respiratory tract", - "organism subdivision", - "respiratory airway", - "thoracic cavity element", - "subdivision of organism along main body axis", - "lung", - "abnormal number of anatomical enitites of type myeloid cell", - "mixed endoderm/mesoderm-derived structure", "lower respiratory tract", "anatomical wall", - "process", - "pleura", "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", - "abnormal bone marrow morphology", + "skeletal element", ], }, { - "id": "MONDO:0001083", + "id": "MONDO:0060778", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624", - ], + "name": "adult Fanconi syndrome", + "xref": ["NCIT:C4377"], "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", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", - "Lignac-Fanconi syndrome", - "adult Fanconi syndrome", - "congenital Fanconi syndrome", - "deToni Fanconi syndrome", - "infantile nephropathic cystinosis", - "toni-debre-Fanconi syndrome", - ], + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], "namespace": "MONDO", - "has_phenotype_count": 0, + "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", + ], }, { "id": "MONDO:0060779", @@ -3943,12 +3943,12 @@ def search_response(): "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0000117", "HP:0001824", "HP:0001324", "HP:0004910", "HP:0001510", + "HP:0002749", "HP:0003774", "HP:0002150", "HP:0001944", @@ -3974,12 +3974,12 @@ def search_response(): "HP:0002049", ], "has_phenotype_label": [ - "Osteomalacia", "Renal phosphate wasting", "Weight loss", "Muscle weakness", "Bicarbonate-wasting renal tubular acidosis", "Growth delay", + "Osteomalacia", "Stage 5 chronic kidney disease", "Hypercalciuria", "Dehydration", @@ -4006,403 +4006,420 @@ def search_response(): ], "has_phenotype_count": 29, "has_phenotype_closure": [ - "UPHENO:0068495", - "UPHENO:0046286", - "UPHENO:0051930", - "UPHENO:0068091", - "HP:0031980", - "CHEBI:25806", - "HP:0032180", - "UPHENO:0004459", - "GO:0098771", + "UPHENO:0051670", + "HP:0002909", "CHEBI:50860", - "UPHENO:0001001", + "CHEBI:36962", + "CHEBI:25806", "UPHENO:0081544", - "HP:0011015", - "UPHENO:0080555", - "UBERON:0000170", - "CHEBI:27226", - "HP:0004323", - "HP:0002206", - "UPHENO:0034438", + "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", - "HP:0012252", - "HP:0002088", - "PATO:0000001", - "UBERON:0001005", "UPHENO:0087433", "UBERON:0000475", "HP:0012598", + "UPHENO:0034438", + "HP:0012252", + "HP:0002206", + "UBERON:0000170", + "CHEBI:27226", "UPHENO:0068169", "UBERON:0013522", "UBERON:0001004", - "UBERON:0002075", - "CHEBI:22563", - "GO:0065007", + "HP:0004323", + "HP:0002088", + "PATO:0000001", "GO:0033500", "GO:0043229", "UPHENO:0020584", "UPHENO:0050619", - "GO:0065008", - "UPHENO:0086172", + "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", - "CHEBI:22984", - "CHEBI:26020", + "HP:0004912", + "UPHENO:0066781", "GO:0050878", + "UPHENO:0051930", "CHEBI:33521", "CHEBI:36586", - "HP:0011280", - "UPHENO:0051704", + "CHEBI:22984", + "CHEBI:26020", "HP:0000083", "UPHENO:0082794", "HP:0011804", - "GO:0042593", - "UPHENO:0049873", + "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", - "UPHENO:0079536", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0034149", - "UPHENO:0019970", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UBERON:0002390", + "UBERON:0000479", + "CHEBI:83821", + "UPHENO:0000541", "UPHENO:0051739", "UPHENO:0066943", - "UBERON:0011143", - "HP:0003076", - "UPHENO:0051847", - "UBERON:0005173", - "UBERON:0000916", - "HP:0000124", - "CHEBI:16646", - "UPHENO:0067999", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0000463", - "CHEBI:16541", - "CHEBI:18282", - "HP:0003126", + "UBERON:0002390", "HP:0004325", "CHEBI:35584", - "UPHENO:0002803", - "UBERON:0005172", "UPHENO:0078555", - "HP:0012622", - "UBERON:0006555", "UPHENO:0081547", "CHEBI:25414", - "UBERON:0004122", "UPHENO:0086132", - "UBERON:0004819", - "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", - "CHEBI:83821", - "UPHENO:0000541", - "CHEBI:22313", - "HP:0000077", - "CHEBI:78616", + "CHEBI:18059", + "UBERON:0000916", + "UPHENO:0079536", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0034149", + "HP:0012072", + "GO:0008150", "UPHENO:0051763", - "HP:0006530", - "UPHENO:0066927", - "HP:0020129", - "UBERON:0004765", - "UBERON:0000467", - "CHEBI:33273", - "UPHENO:0054261", - "HP:0033127", - "UBERON:0001630", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0002150", - "HP:0011842", - "UPHENO:0068089", - "UPHENO:0075696", - "HP:0012599", - "HP:0003330", - "HP:0000924", - "UBERON:0002113", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051668", + "UPHENO:0068491", + "UBERON:0001062", + "HP:0001510", + "CHEBI:25696", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0000543", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0068036", + "UPHENO:0081548", "CHEBI:33579", - "HP:0004360", - "HP:0001941", - "UPHENO:0051804", - "UPHENO:0066781", - "HP:0004912", - "CHEBI:35570", - "HP:0001871", + "UPHENO:0051668", + "GO:0009112", + "CHEBI:36359", + "CHEBI:33675", + "UBERON:8450002", + "CHEBI:33302", "GO:0032501", "UBERON:0013701", - "UPHENO:0050433", - "UPHENO:0082539", - "UPHENO:0046344", - "UBERON:0000489", - "UBERON:0000465", - "CHEBI:33582", - "HP:0004348", - "CHEBI:23906", - "HP:0003774", - "HP:0004349", - "BFO:0000040", - "UBERON:0000179", + "UBERON:0000025", + "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", + "HP:0001939", + "CHEBI:26082", + "GO:0040007", + "CHEBI:36357", + "UPHENO:0077821", + "UPHENO:0019970", "CHEBI:33595", "UPHENO:0081550", - "UPHENO:0068064", - "BFO:0000001", - "UBERON:0015212", - "HP:0012211", - "UBERON:0002204", - "UPHENO:0046348", - "UPHENO:0081440", - "UPHENO:0081548", - "UPHENO:0076703", - "UBERON:0000065", - "HP:0002653", - "CHEBI:33241", - "UPHENO:0084654", - "CHEBI:35568", + "HP:0002086", + "GO:0001503", "UBERON:0000062", "CHEBI:26401", "HP:0003119", - "HP:0002086", - "GO:0001503", - "HP:0001510", - "CHEBI:25696", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0084653", - "HP:0003287", - "UPHENO:0020748", - "HP:0004910", - "UPHENO:0051678", - "UBERON:0004111", - "GO:0043227", - "BFO:0000002", - "UPHENO:0000543", - "UPHENO:0051686", - "CHEBI:36915", - "UPHENO:0068036", - "UBERON:0001008", - "CHEBI:24833", - "CHEBI:26079", - "UBERON:0010000", - "CHEBI:33839", - "HP:0010996", - "CHEBI:33635", - "CHEBI:25384", - "CHEBI:36916", - "UPHENO:0079822", - "CHEBI:26469", - "UBERON:0011676", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0000178", - "UPHENO:0078646", + "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", + "HP:0003774", + "HP:0004349", + "UPHENO:0050342", + "HP:0012603", + "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", - "HP:0040156", "CHEBI:33559", + "HP:0040156", "UBERON:0001015", "HP:0012606", "GO:0006144", "GO:0006629", - "UPHENO:0001005", - "UBERON:0000383", - "UPHENO:0051635", - "CHEBI:23367", - "HP:0003355", - "UPHENO:0076289", - "UPHENO:0082538", - "UPHENO:0080556", + "HP:0010996", + "CHEBI:33635", + "CHEBI:25384", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:26469", + "UBERON:0011676", "UBERON:0000174", "HP:0002900", - "CHEBI:26082", - "CHEBI:35381", - "UBERON:0005181", - "HP:0010966", - "UPHENO:0080659", - "HP:0001939", - "GO:0040007", - "UBERON:0000468", - "UBERON:0005090", - "CHEBI:33917", - "HP:0002795", - "UBERON:0001434", - "UBERON:0001474", - "CHEBI:51151", - "UPHENO:0082875", - "UPHENO:0034276", - "GO:0019752", - "UBERON:0011216", - "UBERON:0005178", - "UPHENO:0068102", - "UPHENO:0082835", - "GO:0006631", - "UPHENO:0049874", - "UPHENO:0001002", - "GO:0008152", - "UPHENO:0078592", - "UPHENO:0050791", - "UBERON:0001088", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0082542", - "GO:0009112", - "CHEBI:36359", - "UBERON:0000025", - "CHEBI:33256", - "UPHENO:0051900", - "HP:0002049", - "HP:0011014", - "HP:0430071", - "CHEBI:36360", - "UBERON:0001062", - "UPHENO:0068491", - "CHEBI:33675", - "UBERON:0005177", - "HP:0011277", - "UPHENO:0046283", - "CHEBI:36357", - "UPHENO:0077821", - "GO:0044238", - "GO:0044281", - "CHEBI:37577", - "HP:0002749", - "HP:0001507", - "GO:0005975", - "HP:0000079", - "UPHENO:0002642", - "HP:0002909", - "CHEBI:33318", - "CHEBI:24431", - "HP:0003111", - "UBERON:0000483", - "UPHENO:0082543", - "UPHENO:0010795", + "HP:0003355", + "UPHENO:0076289", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0054299", "UPHENO:0010763", "UPHENO:0034391", - "UBERON:0004120", - "CHEBI:17234", "UPHENO:0076294", "HP:0001942", + "CHEBI:17234", "UPHENO:0086128", "UBERON:0009569", - "HP:0000001", - "UPHENO:0054299", + "UPHENO:0002642", "HP:0001824", + "UBERON:0011143", "HP:0003011", - "UPHENO:0002320", - "UBERON:0002100", - "UPHENO:0068134", - "HP:0001324", - "UPHENO:0079824", - "UBERON:0000064", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0001005", + "UBERON:0000383", + "UPHENO:0051635", "BFO:0000003", "PR:000050567", "UPHENO:0068110", "UBERON:0001231", + "CHEBI:22313", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0079824", + "UBERON:0000064", + "HP:0004360", + "UBERON:0009773", + "UBERON:0004819", + "UPHENO:0002320", + "UBERON:0002100", + "UPHENO:0068134", + "HP:0001324", "UPHENO:0046284", "HP:0001947", "HP:0011849", "GO:0055086", - "UBERON:0000479", - "CHEBI:36962", + "UBERON:0005173", + "UPHENO:0050433", + "UPHENO:0080556", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0046344", + "UBERON:0000489", + "HP:0012622", + "UBERON:0006555", + "UBERON:0000915", + "CHEBI:33285", + "UBERON:0002193", + "UPHENO:0050116", "CHEBI:15693", "CHEBI:72695", "UPHENO:0050539", "UPHENO:0049904", - "GO:0048878", - "UPHENO:0082834", - "CHEBI:17544", - "CHEBI:36963", - "UPHENO:0051186", - "UBERON:0000915", - "CHEBI:33285", + "UBERON:0000179", + "HP:0430071", + "UBERON:0004120", + "HP:0011013", + "HP:0004354", "UPHENO:0049628", "CHEBI:33238", "HP:0003149", - "UBERON:0002193", - "UPHENO:0051766", - "UPHENO:0050116", - "UPHENO:0076286", - "HP:0004354", - "HP:0011013", - "HP:0012603", - "UPHENO:0050342", - "CHEBI:18059", + "HP:0001871", + "GO:0042593", + "UPHENO:0049873", + "GO:0048878", + "UPHENO:0082834", + "CHEBI:17544", "UPHENO:0051866", - "UPHENO:0046356", "UPHENO:0051887", "GO:0110165", "UPHENO:0051709", "CHEBI:35605", - "CHEBI:38166", - "CHEBI:26708", "BFO:0000004", "CHEBI:22314", - "HP:0012591", - "UPHENO:0034253", - "CHEBI:35406", - "HP:0002148", - "UPHENO:0050121", + "UPHENO:0046356", + "CHEBI:38166", + "CHEBI:26708", "UPHENO:0050080", "CHEBI:35573", - "UPHENO:0002411", - "GO:0050801", - "GO:0009987", - "UPHENO:0066739", - "UPHENO:0068296", - "UPHENO:0002816", - "UPHENO:0051937", - "UPHENO:0034351", - "CHEBI:33259", - "CHEBI:24870", + "HP:0002148", + "UPHENO:0050121", "UBERON:0002417", "HP:0000093", - "HP:0012531", - "CHEBI:24867", - "CHEBI:25213", "UPHENO:0034248", + "CHEBI:25213", "HP:0010932", + "UPHENO:0002411", + "GO:0050801", + "CHEBI:24867", + "HP:0012531", + "UPHENO:0034351", + "HP:0012591", + "UPHENO:0034253", + "CHEBI:35406", "HP:0100529", "UPHENO:0034217", - "HP:0002157", - "HP:0033354", - "GO:0006725", - "UPHENO:0068538", - "HP:0004352", - "CHEBI:33608", - "CHEBI:35366", - "CHEBI:25810", - "HP:0000117", - "CHEBI:35875", - "HP:0004364", - "GO:0044237", - "GO:0008150", - "HP:0012072", + "CHEBI:33259", + "CHEBI:24870", + "UPHENO:0002816", + "UPHENO:0051937", + "GO:0009987", + "UPHENO:0066739", + "UPHENO:0068296", "HP:0012337", "UPHENO:0068251", + "UBERON:0003103", + "HP:0001943", + "GO:0072521", + "CHEBI:33250", + "CHEBI:25367", + "HP:0011042", + "HP:0000117", + "CHEBI:35875", + "UPHENO:0068442", + "HP:0004352", "GO:0034641", "GO:0046483", "UBERON:0000061", "GO:1901360", "GO:1901564", "GO:0006139", + "CHEBI:33608", + "CHEBI:35366", + "GO:0044237", + "CHEBI:25810", + "UPHENO:0049587", + "BFO:0000015", + "CHEBI:33833", + "CHEBI:38101", + "CHEBI:33692", + "CHEBI:36914", + "CHEBI:35571", + "CHEBI:51143", + "CHEBI:35352", + "HP:0002157", + "HP:0033354", + "GO:0006725", + "UPHENO:0068538", + "UPHENO:0049748", + "CHEBI:33674", + "UPHENO:0068058", "CHEBI:37175", "UPHENO:0051688", "GO:0005739", @@ -4412,9 +4429,7 @@ def search_response(): "CHEBI:5686", "HP:0004359", "CHEBI:33655", - "UPHENO:0049748", - "UPHENO:0077826", - "CHEBI:51143", + "HP:0003537", "UPHENO:0051960", "UPHENO:0078616", "UPHENO:0051777", @@ -4423,25 +4438,7 @@ def search_response(): "HP:0004369", "CHEBI:16670", "CHEBI:25699", - "CHEBI:35352", - "UPHENO:0068442", - "CHEBI:33674", - "UPHENO:0068058", - "HP:0003537", - "CHEBI:33692", - "CHEBI:36914", - "CHEBI:35571", - "UBERON:0003103", - "HP:0001943", - "GO:0072521", - "CHEBI:33250", - "CHEBI:25367", - "HP:0011042", - "UPHENO:0049587", - "BFO:0000015", - "CHEBI:33833", - "CHEBI:38101", - "CHEBI:27171", + "UPHENO:0077826", "GO:0006807", "CHEBI:33659", "GO:0043436", @@ -4456,71 +4453,71 @@ def search_response(): "CHEBI:33245", "UPHENO:0050113", "CHEBI:60242", - "UPHENO:0006889", - "HP:0001944", - "CHEBI:22860", - "CHEBI:17126", + "HP:0004364", + "CHEBI:27171", + "GO:0006577", + "CHEBI:36358", "GO:0071704", "CHEBI:35284", - "UPHENO:0049723", - "HP:0010967", - "UPHENO:0050484", + "HP:0001944", + "CHEBI:22860", "UPHENO:0084472", + "HP:0001992", + "HP:0011017", + "UPHENO:0002442", + "UPHENO:0034199", + "CHEBI:17126", "GO:0044255", "GO:0006082", "HP:0010935", "GO:0005575", "UPHENO:0002448", "GO:0006575", + "GO:0009437", + "UPHENO:0084541", + "UPHENO:0034319", + "HP:0011843", + "UPHENO:0049723", + "CHEBI:25741", + "CHEBI:24651", + "UPHENO:0050484", + "GO:0043226", + "GO:0005737", + "GO:0005622", + "HP:0010967", + "UPHENO:0078640", "GO:0032787", "CHEBI:36587", "CHEBI:29067", - "UPHENO:0078640", - "HP:0012103", - "UPHENO:0084537", - "GO:0005623", "UPHENO:0082544", - "UPHENO:0051712", - "HP:0025354", - "HP:0001992", - "HP:0011017", - "UPHENO:0002442", - "UPHENO:0034199", - "GO:0043226", - "GO:0005737", - "GO:0005622", - "CHEBI:29103", - "UPHENO:0068040", - "CHEBI:25741", - "CHEBI:24651", - "UPHENO:0084541", - "UPHENO:0034319", - "HP:0011843", - "GO:0006577", - "CHEBI:36358", - "CHEBI:33575", - "CHEBI:28868", - "UPHENO:0015280", - "UPHENO:0075902", + "UPHENO:0084537", + "UPHENO:0006889", + "HP:0012103", "UPHENO:0048707", + "UPHENO:0075902", + "UPHENO:0015280", "CHEBI:27369", "CHEBI:35757", "GO:0055062", "UPHENO:0084542", - "GO:0009437", - "UPHENO:0068350", + "UPHENO:0051712", + "HP:0025354", + "GO:0005623", + "CHEBI:33575", + "CHEBI:28868", "UPHENO:0051898", "HP:0003081", "UBERON:0000171", "CHEBI:26216", "UBERON:0004119", "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0051645", "CHEBI:33296", + "HP:0010929", "UBERON:0001558", "CHEBI:26217", "CHEBI:37247", - "UPHENO:0051645", - "HP:0010929", "UBERON:0000072", "UPHENO:0051958", "CHEBI:33504", @@ -4531,81 +4528,82 @@ def search_response(): "HP:0001995", "GO:0055080", "HP:0004918", + "HP:0011032", + "HP:0003110", + "UPHENO:0051659", "UPHENO:0001003", "UPHENO:0068079", "HP:0003646", + "HP:0031980", "HP:6000531", "CHEBI:35604", - "HP:0011032", - "HP:0003110", - "UPHENO:0051659", - "UPHENO:0051619", "UPHENO:0051714", + "UPHENO:0051619", "HP:0003234", "HP:0012610", "UPHENO:0068024", - "UPHENO:0068247", - "CHEBI:32988", "CHEBI:35552", "CHEBI:15841", - "CHEBI:50047", "UPHENO:0051801", + "CHEBI:32988", "UBERON:0001285", "UPHENO:0068565", + "UPHENO:0068247", + "CHEBI:50047", "UPHENO:0080658", + "CHEBI:33709", + "UPHENO:0068091", "UPHENO:0049618", "UPHENO:0068144", - "CHEBI:33709", - "UPHENO:0051670", + "UPHENO:0046286", + "UPHENO:0068495", ], "has_phenotype_closure_label": [ "Proximal renal tubular acidosis", - "increased level of carboxylic acid in independent continuant", "abnormal independent continuant amino acid level", + "increased level of carboxylic acid in independent continuant", + "amino acid", + "Abnormal circulating organic compound concentration", "abnormal mitochondrion", - "heteroorganic entity", - "abnormal metabolic process", - "excreta", - "organic oxo compound", "molecular entity", - "abnormal homeostatic process", - "proximo-distal subdivision of respiratory tract", - "abnormal blood glucose level", - "Decreased plasma carnitine", + "heteroorganic entity", "abnormal chemical homeostasis", "abnormal urine organic anion level", - "Abnormal blood glucose concentration", - "organonitrogen compound metabolic process", - "abnormal hematopoietic system", + "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", - "lung fibrosis", + "pair of lungs", + "regulation of biological quality", "abnormal respiratory system", - "increased bodily fluid acid level", - "Bicarbonaturia", - "biological_process", - "increased bodily fluid role level", "viscus", "abnormal respiratory system morphology", "monocarboxylic acid metabolic process", - "pair of lungs", - "regulation of biological quality", + "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", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal lung morphology", + "increased bodily fluid acid level", + "Bicarbonaturia", "oxygen molecular entity", "organooxygen compound", "Abnormality of fluid regulation", - "abnormal independent continuant phosphate level", "Abnormality of the skeletal system", "lung", + "abnormal independent continuant phosphate level", "Hypercalciuria", - "haemolymphatic fluid", - "abnormal role urine level", "s-block element atom", "metal atom", "uric acid", @@ -4614,340 +4612,344 @@ def search_response(): "mesoderm-derived structure", "non-functional anatomical entity", "thoracic segment organ", - "delayed biological_process", - "oxoacid", - "abnormal role bodily fluid level", - "aldose", - "increased level of glucose in independent continuant", - "abnormal regulation of body fluid levels", - "excretory tube", - "Abnormal pulmonary interstitial morphology", - "Renal tubular acidosis", - "abdomen element", - "respiratory tract", - "organism subdivision", - "increased level of chemical entity", - "organic substance metabolic process", - "Abnormal cellular physiology", - "inorganic cation", - "abnormal urine calcium atom level", + "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", - "lateral structure", + "abnormal role bodily fluid level", "abnormal lipid metabolic process", - "endoderm-derived structure", - "trunk region element", - "body proper", - "increased level of glucose in urine", - "purine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "carboxylic acid metabolic process", - "organic aromatic compound", - "Renal tubular dysfunction", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "regulation of body fluid levels", - "abnormal blood chemical entity level", - "abnormal acid bodily fluid level", + "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", - "Decreased anatomical entity mass density", "carbon group molecular entity", + "carbohydrate metabolic process", + "Pulmonary fibrosis", "abnormal independent continuant chemical entity level", + "abnormal skeletal system", + "Abnormal renal physiology", "Weight loss", - "phosphorus oxoacid derivative", - "compound organ", - "kidney epithelium", - "Abnormal blood phosphate concentration", - "skeletal system", + "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", - "abnormality of anatomical entity mass", - "abnormality of respiratory system physiology", + "biological_process", + "increased bodily fluid role level", "Decreased body weight", - "organ", - "occurrent", - "anatomical collection", - "polyatomic entity", - "abnormality of renal system physiology", - "monosaccharide", - "nucleobase-containing small molecule metabolic process", - "mancude organic heterobicyclic parent", + "lipid", + "carbohydrate", + "renal system", + "oxopurine", "respiratory system", "abnormal sodium atom level", "abnormal amino-acid betaine level", - "oxopurine", - "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", - "Abnormality of urine homeostasis", - "organ system subdivision", - "Aminoaciduria", - "abnormal genitourinary system", - "Metabolic acidosis", - "blood", - "hydrides", - "increased level of potassium atom in urine", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "material entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "hematopoietic system", - "purines", - "abnormal purine nucleobase metabolic process", - "Abnormal respiratory system physiology", - "potassium molecular entity", + "organochalcogen compound", "Abnormal homeostasis", "Abnormal muscle physiology", - "organochalcogen compound", "Increased susceptibility to fractures", + "Abnormal respiratory system physiology", + "potassium molecular entity", "homeostatic process", "abnormal carbohydrate metabolic process", "p-block molecular entity", - "phosphorus oxoacids and derivatives", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "Abnormal renal physiology", - "abnormal skeletal system", - "nucleobase", - "increased level of carboxylic acid in urine", - "abnormal musculature", - "organ part", - "Muscle weakness", - "multicellular organismal process", - "abnormal blood phosphate level", - "obsolete cellular aromatic compound metabolic process", - "hemolymphoid system", - "hexose", - "multicellular anatomical structure", - "Pulmonary fibrosis", - "carbohydrate metabolic process", - "abnormal lung morphology", - "alkaline earth metal atom", - "Abnormal skeletal morphology", - "abnormal glucose homeostasis", - "decreased level of phosphate in independent continuant", - "anatomical entity", - "bone element", - "excretory system", - "tube", - "decreased level of phosphate in blood", - "abnormal phosphate level", - "decreased level of chemical entity", - "abnormal anatomical entity", - "abnormal growth", - "All", - "Abnormal bone structure", - "organic cyclic compound", - "Hyperchloremic acidosis", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "abnormal bone element mass density", - "abnormality of anatomical entity physiology", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "Osteomalacia", - "Abnormality of the musculature", - "decreased role independent continuant level", - "ossification", - "abnormal independent continuant calcium atom level", - "Abnormal circulating metabolite concentration", - "increased independent continuant role level", - "entity", - "cavitated compound organ", - "skeletal element", - "Decreased bone element mass density", - "abnormal phenotype by ontology source", - "pnictogen molecular entity", - "subdivision of trunk", "abnormal chemical entity level", "Abnormality of metabolism/homeostasis", + "nephron", "tissue", "continuant", "Abnormal circulating nucleobase concentration", "protein polypeptide chain", - "nephron", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Chronic kidney disease", - "material anatomical entity", - "muscle structure", - "carbohydrate", - "renal system", - "lipid", - "Bicarbonate-wasting renal tubular acidosis", - "organism substance", - "cellular anatomical entity", - "aldohexose", - "subdivision of organism along main body axis", - "phosphoric acid derivative", - "abnormal renal system", - "abnormal independent continuant monoatomic ion level", - "abnormal small molecule metabolic process", - "phosphate", - "abnormal multicellular organism chemical entity level", - "alkali metal cation", - "abnormal role independent continuant level", - "metal cation", - "abnormal independent continuant glucose level", - "process", - "trunk", + "monoatomic ion homeostasis", + "increased independent continuant role level", + "entity", + "subdivision of trunk", + "pnictogen molecular entity", "Abnormality of the urinary system", "Aciduria", - "epithelium", - "abnormality of kidney physiology", - "main group molecular entity", - "heteroatomic molecular entity", - "increased level of calcium atom in independent continuant", - "increased independent continuant acid level", - "Dehydration", - "polyatomic ion", - "Renal insufficiency", - "nephron epithelium", - "Abnormality of body weight", - "growth", - "heteropolycyclic compound", - "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", - "Abnormality of the upper urinary tract", - "Bone pain", - "decreased anatomical entity strength", - "abnormal calcium atom level", - "musculature of body", - "biological regulation", - "abdominal segment of trunk", - "anatomical conduit", - "phosphorus molecular entity", - "anatomical structure", - "organic ion", - "Abnormal circulating carbohydrate concentration", - "musculature", - "calcium atom", - "decreased role blood level", + "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", - "decreased anatomical entity mass", - "abdomen", - "Abnormal circulating organic compound concentration", - "increased level of calcium atom in urine", - "abnormal carbohydrate homeostasis", - "Abnormal urine metabolite level", - "primary metabolic process", "glucose homeostasis", - "carbohydrates and carbohydrate derivatives", - "organic acid", - "abnormal metabolite independent continuant level", - "abnormal primary metabolic process", + "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", - "Renal sodium wasting", - "delayed growth", - "decreased level of carnitine in blood", "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", - "Hypophosphatemic rickets", - "Decreased anatomical entity mass", - "inorganic ion homeostasis", "abnormal blood monoatomic ion level", - "Azotemia", "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", - "Hypophosphatemia", - "Renal phosphate wasting", - "Abnormal circulating monocarboxylic acid concentration", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", "phosphate ion homeostasis", - "Abnormal blood ion concentration", - "increased level of chemical entity in blood", - "Abnormal urine phosphate concentration", - "organic hydride", - "Abnormality of urinary uric acid level", - "aromatic compound", - "nitrogen molecular entity", - "polycyclic compound", - "s-block molecular entity", + "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", - "obsolete heterocycle metabolic process", - "small molecule metabolic process", "nucleobase-containing compound metabolic process", - "Abnormal circulating purine concentration", - "Abnormal urine protein level", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "mancude ring", - "elemental potassium", - "cellular process", - "amino-acid betaine", - "increased level of organic acid in urine", - "Hypouricemia", "Decreased circulating purine concentration", "anatomical system", "mitochondrion", "abnormal independent continuant carnitine level", "Hypokalemia", - "Abnormality of the genitourinary system", - "organic heterocyclic compound", - "heterobicyclic compound", + "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 independent continuant uric acid level", - "abnormal blood carnitine level", - "cellular metabolic process", - "obsolete nitrogen compound metabolic process", + "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", @@ -4957,16 +4959,6 @@ def search_response(): "kidney", "Growth delay", "organic mancude parent", - "heteroarene", - "organic molecular entity", - "abnormal anatomical entity mass density", - "increased level of organic molecular entity in independent continuant", - "organic heteropolycyclic compound", - "organonitrogen heterocyclic compound", - "non-functional kidney", - "heterocyclic organic fundamental parent", - "chemical entity", - "Abnormal circulating carboxylic acid concentration", "Reduced bone mineral density", "abnormal blood nitrogen molecular entity level", "Abnormality of the kidney", @@ -4974,45 +4966,58 @@ def search_response(): "decreased level of purines", "cation", "purine nucleobase metabolic process", - "amino acid", - "decreased level of uric acid in blood", - "decreased multicellular organism mass", - "abnormal blood uric acid level", - "phenotype by ontology source", - "oxoanion", - "carboxylic acid anion", - "monocarboxylic acid", - "cellular lipid metabolic process", - "cellular modified amino acid 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", - "abnormal cell", - "heterocyclic compound", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", + "quality", + "carboxylic acid", + "abnormal amino acid derivative level", + "phenotype by ontology source", + "oxoanion", + "carboxylic acid anion", "abnormal cellular_component", - "abnormal role blood level", - "organelle", "abnormal carboxylic acid metabolic process", - "zwitterion", - "carbonyl compound", - "monocarboxylic acid anion", - "purine-containing compound metabolic process", - "carbon oxoacid", - "obsolete cell", - "Abnormal blood potassium concentration", "Abnormal circulating nitrogen compound concentration", "intracellular membrane-bounded organelle", "oxide", - "polyatomic anion", - "glucose", - "fatty acid anion", "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", - "organic heterobicyclic compound", "Abnormality of bone mineral density", + "organic heterobicyclic compound", "hydrogencarbonate", "oxoacid metabolic process", "abnormal urine sodium atom level", @@ -5022,49 +5027,44 @@ def search_response(): "intracellular organelle", "membrane-bounded organelle", "anion", - "quality", - "abnormal amino acid derivative level", - "carboxylic acid", - "onium betaine", - "Abnormal urine carboxylic acid level", - "Abnormal circulating fatty-acid concentration", - "Abnormality of acid-base homeostasis", - "urine", - "quaternary nitrogen compound", - "increased level of monosaccharide in independent continuant", - "Hyperchloremic metabolic acidosis", - "amino acid derivative", - "abnormal carnitine metabolic process", "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", - "Abnormal bone ossification", - "abnormal urine potassium atom level", + "monocarboxylic acid", "chalcogen molecular entity", "abnormal potassium atom level", "abnormal independent continuant potassium atom level", "chemical homeostasis", "main body axis", "potassium atom", - "monovalent inorganic cation", - "monoatomic monocation", - "abnormal urine hydrogencarbonate level", - "alkali metal molecular entity", + "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", - "abnormal blood potassium(1+) level", "polypeptide", "decreased level of potassium atom in blood", - "potassium(1+)", - "monoatomic cation", - "Abnormal blood monovalent inorganic cation concentration", "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", @@ -5074,38 +5074,49 @@ def search_response(): "Pain", "independent continuant", "Abnormal urine pH", - "abnormal independent continuant hydrogencarbonate level", - "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "increased level of hydrogencarbonate in urine", "imidazopyrimidine", "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "abnormal hydrogencarbonate level", "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", - "Hyperuricosuria", - "increased level of amino acid in urine", - "increased level of uric acid in urine", - "peptide", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", + "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", - "abnormal acid independent continuant level", - "organic amino compound", + "peptide", "abnormal urine glucose level", "increased level of monosaccharide in urine", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", + "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", - "abnormal amino acid level", + "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", @@ -5122,8 +5133,8 @@ def search_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0000117", + "HP:0002749", "HP:0002148", "HP:0000114", "HP:0002757", @@ -5141,8 +5152,8 @@ def search_response(): "HP:0002150", ], "has_phenotype_label": [ - "Osteomalacia", "Renal phosphate wasting", + "Osteomalacia", "Hypophosphatemia", "Proximal tubulopathy", "Recurrent fractures", @@ -5161,608 +5172,617 @@ def search_response(): ], "has_phenotype_count": 17, "has_phenotype_closure": [ - "HP:0002150", - "UPHENO:0051678", + "HP:0011280", "UPHENO:0068134", "UPHENO:0046344", - "HP:0011280", + "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:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - "UPHENO:0000541", "UPHENO:0075159", - "HP:0001510", - "UPHENO:0068174", - "UPHENO:0082943", - "HP:0002152", - "PR:000000001", - "CHEBI:33694", - "PR:000064867", - "UPHENO:0051648", - "HP:0004360", - "UPHENO:0068442", "UPHENO:0051936", - "HP:0001948", "HP:0012337", "UPHENO:0077826", + "HP:0001948", + "UPHENO:0068174", + "UPHENO:0051648", "UPHENO:0068971", "CHEBI:33695", - "UPHENO:0068104", + "UPHENO:0051741", + "UPHENO:0082943", + "PR:000064867", + "UPHENO:0068477", + "CHEBI:33694", + "UBERON:0001969", "UPHENO:0082536", "UPHENO:0068472", "UPHENO:0068068", - "UPHENO:0051741", - "UBERON:0001969", - "UPHENO:0068477", - "UPHENO:0081550", + "HP:0002152", + "HP:0004360", + "UPHENO:0068442", "PR:000018263", - "UPHENO:0080658", + "PR:000000001", + "UPHENO:0068104", + "UPHENO:0081550", "HP:0012212", "UBERON:0001977", "UPHENO:0051635", + "UPHENO:0080658", "UPHENO:0068054", - "UPHENO:0052116", "HP:6000531", - "CHEBI:17234", "CHEBI:33917", + "CHEBI:18133", + "CHEBI:17234", "HP:0010876", "CHEBI:35381", - "CHEBI:18133", + "UPHENO:0052116", + "UPHENO:0068247", "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:32988", "UPHENO:0051801", "CHEBI:15841", - "CHEBI:32988", - "CHEBI:16541", - "UPHENO:0068247", "CHEBI:16670", - "UPHENO:0048763", - "UPHENO:0082539", + "PR:000013429", + "HP:0100508", + "UPHENO:0049873", + "UBERON:0034923", + "UPHENO:0051628", + "UPHENO:0068047", + "HP:0000818", "CHEBI:26191", "CHEBI:35350", "CHEBI:22313", "CHEBI:51958", - "UPHENO:0076293", - "UPHENO:0079534", - "CHEBI:37622", - "GO:0006775", - "GO:0008202", - "UBERON:0034923", - "UPHENO:0080351", - "UPHENO:0076286", - "HP:0031415", + "UPHENO:0081547", + "UPHENO:0048763", + "HP:0430071", + "UPHENO:0051680", + "UBERON:0015204", "UPHENO:0050116", - "UPHENO:0051628", - "UPHENO:0068047", - "HP:0000818", - "CHEBI:18059", + "CHEBI:33822", + "CHEBI:33832", + "CHEBI:78616", + "HP:0000077", "UBERON:0001231", - "UBERON:0000064", - "CHEBI:24870", - "UPHENO:0034217", - "UPHENO:0051960", + "UBERON:0011143", "GO:0048878", - "UPHENO:0066739", - "UPHENO:0075902", "UPHENO:0080352", "UBERON:0000179", "CHEBI:27136", "BFO:0000004", - "HP:0012531", - "GO:0050801", - "HP:0000083", - "GO:0032501", - "GO:1901360", - "UPHENO:0050080", - "HP:0002148", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0049618", + "CHEBI:33259", + "UPHENO:0034217", "UPHENO:0051630", "UPHENO:0034253", - "UBERON:0000468", "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:0004364", - "UPHENO:0078628", - "UPHENO:0078589", - "UPHENO:0002442", - "PATO:0000001", - "HP:0000079", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "UPHENO:0004459", - "GO:0098771", - "HP:0011277", - "GO:0071704", - "CHEBI:33675", - "BFO:0000020", - "HP:0430071", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0082542", - "HP:0000119", + "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:51143", "UPHENO:0080638", "UPHENO:0002964", - "UPHENO:0051712", - "UPHENO:0086128", - "CHEBI:33595", - "UPHENO:0049587", - "GO:0008152", - "HP:0003077", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", - "HP:0001871", - "UPHENO:0082835", - "UPHENO:0068040", "UPHENO:0080643", "UBERON:0011216", "UPHENO:0082875", "UBERON:0001474", "UBERON:0002100", - "HP:0000118", - "UBERON:0001434", - "HP:0001939", - "CHEBI:26082", - "CHEBI:17823", - "CHEBI:23367", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0068491", - "CHEBI:36357", - "UPHENO:0077821", + "HP:0003330", + "UBERON:0000467", + "UBERON:0004765", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0082835", + "UPHENO:0068040", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0001871", "UPHENO:0002536", "UPHENO:0076692", "UPHENO:0051186", "CHEBI:36963", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", "CHEBI:33635", "UBERON:0000061", - "CHEBI:33839", - "CHEBI:26079", - "HP:0011849", - "UPHENO:0048707", - "HP:0100529", - "CHEBI:35352", - "UPHENO:0051686", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0084653", - "CHEBI:73558", - "UBERON:8450002", - "UPHENO:0068169", - "HP:0032369", - "CHEBI:33302", - "UBERON:0001062", - "GO:0001503", - "UPHENO:0084654", - "UPHENO:0034351", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "GO:0008152", + "HP:0003077", + "UPHENO:0046284", + "UBERON:0003103", + "UPHENO:0068110", + "UPHENO:0002442", + "PATO:0000001", "UBERON:0002193", - "CHEBI:33241", "HP:0002653", "UPHENO:0076703", - "CHEBI:33259", - "UPHENO:0049618", "UPHENO:0015280", "UPHENO:0081548", + "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", + "CHEBI:33839", + "CHEBI:26079", + "HP:0031415", + "GO:0042592", + "UBERON:0000489", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0001003", "UBERON:0004120", "UPHENO:0068538", - "CHEBI:35341", - "BFO:0000001", - "UPHENO:0003116", - "UPHENO:0051804", + "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:0051937", - "CHEBI:33709", - "CHEBI:35605", - "GO:0042359", - "UPHENO:0082834", - "HP:0033405", - "BFO:0000040", - "HP:0004349", - "UBERON:0001088", - "GO:0044281", - "UPHENO:0082534", - "HP:0002749", - "HP:0004348", - "HP:0000001", - "UBERON:0004111", - "UBERON:0000489", - "UPHENO:0082538", - "GO:0042592", - "CHEBI:36080", - "UBERON:0006314", - "HP:0000114", - "UPHENO:0068495", + "UPHENO:0077821", + "CHEBI:36357", + "UPHENO:0004459", + "GO:0098771", + "CHEBI:26082", + "CHEBI:17823", + "HP:0001939", + "HP:0033127", + "UPHENO:0075696", + "HP:0011842", + "HP:0012599", + "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:0100529", + "CHEBI:35352", + "UPHENO:0051686", + "UPHENO:0001005", + "GO:0044281", + "UBERON:0001088", "CHEBI:33318", "CHEBI:24431", "HP:0003111", - "BFO:0000015", - "UPHENO:0049628", - "CHEBI:33238", - "CHEBI:35788", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "UBERON:0000174", - "HP:0000924", - "UBERON:0013702", - "CHEBI:33304", - "HP:0003330", - "HP:0012599", - "UPHENO:0075696", - "HP:0011842", - "HP:0033127", - "UPHENO:0001003", - "HP:0100530", - "UPHENO:0034391", - "UPHENO:0068049", - "CHEBI:51143", - "UPHENO:0051640", - "UPHENO:0081546", - "UBERON:0000467", - "UBERON:0004765", - "UBERON:0000949", - "UBERON:0000062", - "HP:0003119", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "CHEBI:15693", - "UPHENO:0081544", + "UBERON:0001062", "UPHENO:0051763", "GO:0008150", "UPHENO:0068064", "CHEBI:72695", + "HP:0011849", + "UPHENO:0048707", + "UPHENO:0051847", + "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", "UBERON:0009569", "CHEBI:24651", + "BFO:0000001", + "CHEBI:35341", + "CHEBI:36853", + "UBERON:0004819", "UBERON:0000483", - "UBERON:0000479", - "CHEBI:33832", - "UBERON:0000475", - "HP:0012211", + "UBERON:0004122", + "HP:0010935", "UPHENO:0076285", "UBERON:0015212", + "HP:0012211", + "HP:0033331", + "UBERON:0006555", + "UPHENO:0024906", "UPHENO:0002411", "UPHENO:0051864", - "CHEBI:78616", - "HP:0000077", - "UBERON:0002390", - "HP:0003117", - "HP:0001992", - "UPHENO:0051709", - "UBERON:0010000", - "UPHENO:0066943", + "UBERON:0000916", "UBERON:0004211", "UBERON:0007684", "UBERON:0009773", - "UBERON:0004122", - "HP:0010935", - "HP:0033331", - "UBERON:0006555", "UPHENO:0052038", "UBERON:0005172", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UPHENO:0068533", - "CHEBI:47042", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0011143", - "UPHENO:0024906", - "CHEBI:36853", - "UBERON:0004819", - "HP:0002659", + "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", - "PR:000013429", - "HP:0100508", - "HP:0011843", "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", - "UBERON:0000465", - "CHEBI:33582", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0002642", - "HP:0002909", + "UPHENO:0076289", "HP:0012072", - "UPHENO:0076287", "UPHENO:0046281", + "UPHENO:0076287", "CHEBI:25806", - "UPHENO:0051670", - "HP:0031980", + "CHEBI:36962", "CHEBI:50860", - "CHEBI:22984", - "UBERON:0000463", - "CHEBI:26020", - "HP:0040156", - "CHEBI:36587", - "UPHENO:0068384", - "UBERON:0001008", - "CHEBI:24833", - "HP:0003355", - "CHEBI:33559", - "UPHENO:0051930", + "UPHENO:0079534", "UPHENO:0051900", "UPHENO:0051739", - "CHEBI:36962", - "CHEBI:33285", - "CHEBI:25367", "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:0068058", - "UPHENO:0068313", - "CHEBI:33674", - "UPHENO:0076289", + "UPHENO:0051670", "CHEBI:33575", "CHEBI:50047", - "CHEBI:33521", - "UPHENO:0082541", - "CHEBI:36586", + "UPHENO:0068251", + "GO:0008202", + "UPHENO:0082834", + "GO:0042359", "UPHENO:0068102", "UPHENO:0000543", "HP:0003076", "CHEBI:27300", - "UPHENO:0048711", - "UPHENO:0049873", - "UPHENO:0001001", - "GO:0044238", - "UPHENO:0068251", "GO:0006629", "GO:1901615", "UBERON:0000178", "GO:0006766", - "UPHENO:0051680", - "UBERON:0015204", - "CHEBI:33822", - "UPHENO:0081547", + "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": [ - "Hypercalciuria", "alkaline earth metal atom", - "atom", + "Hypercalciuria", "s-block element atom", "main group element atom", - "Abnormality of urine calcium concentration", "increased level of calcium atom in independent continuant", + "Abnormality of urine calcium concentration", "abnormal calcium atom level", + "atom", "Renal insufficiency", "non-functional kidney", - "Decreased glomerular filtration rate", "Abnormal glomerular filtration rate", + "Decreased glomerular filtration rate", "Pain", "Constitutional symptom", - "growth", - "Growth delay", "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", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "abnormal blood parathyroid hormone level", "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", - "parathyroid hormone", - "blood plasma", - "increased level of calcium atom in urine", - "abnormal blood protein polypeptide chain level", - "Elevated circulating parathyroid hormone level", - "Abnormal circulating nitrogen compound concentration", - "increased level of protein in blood", - "Alkalosis", - "increased level of nitrogen molecular entity in blood", - "Abnormality of acid-base homeostasis", "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", - "abnormal blood serum chemical entity level", - "abnormal acid bodily fluid level", - "increased level of protein", "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", - "increased level of monosaccharide in urine", + "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", - "abnormal urine glucose level", - "abnormal independent continuant carbohydrate level", "monosaccharide", + "peptide", "macromolecule", "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "amide", "increased level of protein polypeptide chain in independent continuant", - "peptide", - "Abnormal metabolism", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "hydroxy seco-steroid", + "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", - "small molecule metabolic process", "abnormal hormone independent continuant level", - "abnormal independent continuant calcium atom level", - "abnormal independent continuant parathyroid hormone level", - "abnormal vitamin metabolic process", - "steroid", - "cyclic compound", "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", - "organism substance", - "primary amide", - "elemental molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "seco-steroid", + "bodily fluid", + "abnormal urine phosphate level", + "abdomen element", "Hypophosphatemia", "monoatomic ion", - "increased blood role level", - "Abnormality of vitamin D metabolism", - "abnormal homeostatic process", - "decreased level of chemical entity in blood", - "phenotype by ontology source", "abnormal blood chemical entity level", "monoatomic entity", "abnormal acid independent continuant level", - "abnormal urine phosphate level", - "abdomen element", - "protein-containing molecular entity", - "Abnormal circulating organic compound concentration", - "increased level of vitamin D", + "decreased level of chemical entity in blood", + "phenotype by ontology source", "abnormal blood plasma chemical entity level", "inorganic ion homeostasis", "Reduced bone mineral density", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "non-functional anatomical entity", - "Osteopenia", - "increased level of monosaccharide in independent continuant", - "D3 vitamins", - "chemical entity", - "polyol", - "increased independent continuant acid level", - "heteroatomic molecular entity", - "main group molecular entity", - "abnormality of kidney physiology", - "abnormal chemical homeostasis", - "abnormal independent continuant lipid level", - "phosphorus molecular entity", - "oxoacid derivative", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal bone element mass density", - "abnormal multicellular organism chemical entity level", - "phosphate", - "non-connected functional system", - "calcitriol", - "subdivision of organism along main body axis", + "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", - "phosphate ion homeostasis", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "lipid", - "material anatomical entity", - "nephron", - "protein polypeptide chain", - "continuant", - "amino acid chain", - "tissue", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "increased level of lipid in independent continuant", + "abnormal size of multicellular organism", + "bone element", "decreased size of the multicellular organism", "Decreased bone element mass density", - "chemical homeostasis", - "skeletal element", - "cavitated compound organ", - "increased level of lipid in blood", - "increased level of parathyroid hormone in blood serum", - "Abnormal circulating protein concentration", - "entity", - "abnormal blood lipid level", - "information biomacromolecule", - "Glycosuria", - "Abnormal bone ossification", - "abdominal segment element", "abnormal anatomical entity mass density", "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "anatomical system", - "All", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal independent continuant monoatomic ion level", - "excretory system", - "abnormal size of multicellular organism", - "bone element", - "anatomical entity", - "multicellular anatomical structure", + "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 musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", + "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", - "Alkalemia", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal protein level", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", + "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", - "organic cyclic compound metabolic process", - "ion", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", "biomacromolecule", "p-block molecular entity", "triol", @@ -5771,98 +5791,88 @@ def search_response(): "Abnormal homeostasis", "Increased susceptibility to fractures", "organochalcogen compound", - "urine", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "material entity", - "organic amino compound", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "Azotemia", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "process", - "fat-soluble vitamin metabolic process", - "nephron tubule", - "hydrogen molecular entity", - "abnormal role independent continuant level", - "abnormal genitourinary system", - "Aminoaciduria", - "organ system subdivision", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "carbon oxoacid", + "Organic aciduria", + "Abnormal metabolism", "increased level of calcitriol in independent continuant", - "musculoskeletal system", "abnormal upper urinary tract", - "uriniferous tubule", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", + "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", - "Abnormal bone structure", - "organic cyclic compound", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "phosphoric acid derivative", - "abnormality of renal system physiology", - "quality", - "carbon oxoacid", - "multicellular organism", - "hematopoietic system", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Recurrent fractures", - "carbonyl compound", - "polyatomic entity", - "abnormal chemical entity level", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "pnictogen molecular entity", - "occurrent", - "organ", - "delayed biological_process", - "Osteomalacia", - "oxoacid", "carbohydrate", "increased bodily fluid role level", "biological_process", "renal tubule", "Hyperlipidemia", - "abnormal vitamin D level", "genitourinary system", - "skeletal system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "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", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "bodily fluid", - "seco-steroid", "metabolic process", - "Bone pain", - "Abnormality of the upper urinary tract", - "Abnormal blood phosphate concentration", - "phosphorus oxoacids and derivatives", + "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", - "abdomen", - "abdominal segment of trunk", - "Renal tubular dysfunction", - "abnormal kidney", - "increased bodily fluid base level", - "increased level of glucose in urine", - "body proper", - "trunk region element", - "nephron epithelium", "lateral structure", - "Proximal tubulopathy", - "organism subdivision", - "tube", - "excretory tube", "Abnormality of urine homeostasis", "upper urinary tract", "abnormal hematopoietic system", @@ -5870,1599 +5880,1589 @@ def search_response(): "Renal phosphate wasting", "abnormal endocrine system", "kidney", + "tube", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium", "hemolymphoid system", "Rickets", - "increased level of organic acid in independent continuant", - "Abnormal urine phosphate concentration", - "increased level of carboxylic acid in urine", - "increased level of chemical entity in blood plasma", - "s-block molecular entity", - "amino acid", - "molecule", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", - "carboxamide", - "Generalized aminoaciduria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "endocrine system", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "carboxylic acid", "increased level of chemical entity in independent continuant", "Abnormal urine pH", - "carboxylic acid", + "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", - "abnormal vitamin D metabolic process", - "Abnormality of the urinary system physiology", - "hydroxycalciol", "increased independent continuant hormone level", - "increased independent continuant base level", - "Abnormality of the urinary system", - "Aciduria", - "organic molecule", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of organic molecular entity in independent continuant", - "abnormality of multicellular organism height", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "primary metabolic process", - "glandular system", - "organic molecular entity", - "increased level of chemical entity in urine", - "increased level of amino acid in urine", - "increased level of chemical entity in bodily fluid", - "abnormal role urine level", - "organic substance metabolic process", + "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 urine protein level", - "abnormal hormone blood level", - "polycyclic compound", - "carbohydrates and carbohydrate derivatives", - "organic hydroxy compound", - "abnormal small molecule metabolic process", - "abnormal renal system", - "vitamin D", + "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", - "Abnormality of vitamin metabolism", + "material anatomical entity", + "lipid", "abnormal primary metabolic process", "increased level of calcitriol in blood", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "excreta", - "organic oxo compound", - "abnormal metabolic process", - "abnormal lipid level", - "increased level of parathyroid hormone in blood", - "hydroxy steroid", + "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", ], }, { - "id": "MONDO:0014275", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "name": "Fanconi renotubular syndrome 1", + "xref": ["DOID:0080757", "OMIM:134600"], "provided_by": "phenio_nodes", - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH", + "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:0001942", - "HP:0001510", - "HP:0003259", + "HP:0003648", + "HP:0001324", + "HP:0002749", + "HP:0002148", + "HP:0000124", "HP:0003109", + "HP:0002900", "HP:0002748", - "HP:0002979", + "HP:0034359", "HP:0003076", - "HP:0000083", - "HP:0004322", + "HP:0003155", "HP:0003355", + "HP:0004322", "HP:0003126", + "HP:0000083", ], "has_phenotype_label": [ "Metabolic acidosis", - "Growth delay", - "Elevated circulating creatinine concentration", + "Lacticaciduria", + "Muscle weakness", + "Osteomalacia", + "Hypophosphatemia", + "Renal tubular dysfunction", "Hyperphosphaturia", + "Hypokalemia", "Rickets", - "Bowing of the legs", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Renal insufficiency", - "Short stature", + "Elevated circulating alkaline phosphatase concentration", "Aminoaciduria", + "Short stature", "Low-molecular-weight proteinuria", + "Renal insufficiency", ], - "has_phenotype_count": 11, + "has_phenotype_count": 16, "has_phenotype_closure": [ + "CHEBI:37622", + "UPHENO:0068247", "UPHENO:0068565", - "UPHENO:0051801", - "CHEBI:15841", - "HP:0000093", "CHEBI:16541", - "UPHENO:0068247", + "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:36586", - "UPHENO:0068495", - "CHEBI:50047", - "CHEBI:33575", + "HP:0003355", "CHEBI:24651", + "CHEBI:33575", + "UPHENO:0068495", "UPHENO:0046286", - "UPHENO:0051930", - "HP:0003355", - "CHEBI:36587", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068091", "HP:0031980", - "UPHENO:0051670", - "HP:0012072", - "HP:0032943", "CHEBI:33709", - "UPHENO:0081424", - "UPHENO:0069254", - "UPHENO:0075159", - "UPHENO:0068971", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0005173", - "UBERON:0000916", - "UPHENO:0075195", - "UPHENO:0086132", - "UBERON:0000489", - "HP:0012211", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011676", - "UPHENO:0075902", - "CHEBI:33674", - "UPHENO:0068058", - "HP:0000077", - "CHEBI:78616", - "UPHENO:0052116", - "CHEBI:17234", - "CHEBI:35381", - "CHEBI:18133", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0041258", - "HP:6000531", - "UPHENO:0068352", - "UPHENO:0079534", - "CHEBI:50860", - "CHEBI:23443", - "CHEBI:24532", - "CHEBI:37622", - "UPHENO:0001001", - "CHEBI:16646", - "CHEBI:38304", - "UPHENO:0068064", - "CHEBI:72695", - "GO:0008150", - "UBERON:0002193", - "CHEBI:33675", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0076740", - "UPHENO:0082467", - "HP:0012100", - "CHEBI:32988", - "UPHENO:0002411", - "HP:0002981", + "CHEBI:50047", + "HP:0004379", + "UPHENO:0081777", + "UPHENO:0068971", + "CHEBI:33695", + "UPHENO:0082943", + "PR:000064867", "CHEBI:35352", - "UPHENO:0077826", - "CHEBI:38101", - "UPHENO:0081550", - "UPHENO:0041573", - "UPHENO:0076703", - "CHEBI:33661", - "UPHENO:0001002", - "GO:0008152", + "UPHENO:0075666", + "CHEBI:51143", + "CHEBI:33694", + "UPHENO:0046362", + "HP:0012379", + "PR:000018263", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", + "HP:0033354", + "UPHENO:0068054", + "CHEBI:33285", + "CHEBI:50860", "CHEBI:36962", - "UPHENO:0002830", + "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:0068049", - "CHEBI:51143", - "UPHENO:0051640", - "UPHENO:0081546", + "UPHENO:0050080", + "GO:0001503", + "HP:0000118", + "UBERON:0001434", + "UBERON:0002204", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "HP:0004349", + "BFO:0000040", + "UPHENO:0082834", + "UPHENO:0034391", "HP:0004360", - "HP:0430071", - "BFO:0000020", - "UPHENO:0068491", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0051763", - "UPHENO:0041098", - "UPHENO:0078550", - "HP:0004364", - "BFO:0000004", - "UPHENO:0051753", - "UPHENO:0068346", - "UPHENO:0051894", - "UPHENO:0086956", - "CHEBI:36963", - "UPHENO:0068442", - "CHEBI:24995", - "CHEBI:38261", + "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", + "UPHENO:0034253", + "UBERON:0002417", + "CHEBI:22314", + "UPHENO:0084654", + "UPHENO:0034351", + 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"UBERON:0002390", - "UBERON:0010000", - "UBERON:0010363", - "HP:0001942", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0006487", - "UPHENO:0068538", - "UBERON:0004120", - "HP:0040064", - "UPHENO:0068144", - "UBERON:0010707", - "UPHENO:0002964", - "UBERON:0002101", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "UPHENO:0001002", + "CHEBI:60242", "UPHENO:0086128", "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:24431", - "UPHENO:0000541", - "CHEBI:33285", - "CHEBI:25367", - "UPHENO:0076727", - "UPHENO:0079873", + "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", - "UPHENO:0031193", - "GO:0040007", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082539", - "PR:000050567", - "BFO:0000003", - "HP:0011844", - "UBERON:0004709", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0001001", "CHEBI:24833", "UBERON:0001008", "CHEBI:33839", "CHEBI:26079", - "CHEBI:33670", - "PATO:0000001", - "UPHENO:0002442", - "UBERON:0011249", - "UBERON:0000978", - "HP:0000001", - "CHEBI:16737", - "UPHENO:0076289", - "CHEBI:5686", - "BFO:0000002", - "UBERON:0001062", - "CHEBI:33256", - "CHEBI:33302", - "CHEBI:25693", - "UBERON:0000061", - "BFO:0000015", - "UBERON:0005055", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0081548", - "UPHENO:0015280", + "GO:0042592", + "UPHENO:0082539", "UPHENO:0082538", - "UBERON:0004769", - "UPHENO:0048707", - "HP:0011849", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:36357", - "UPHENO:0077821", - "HP:0003076", - "UPHENO:0000543", - "CHEBI:23367", - "BFO:0000040", - "UPHENO:0082834", - "HP:0004349", - "UBERON:0006314", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", + "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:0049874", - "UBERON:0003823", + "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:0001507", - "CHEBI:37577", - "UBERON:0002417", - "UPHENO:0082129", - "HP:0001939", - "UBERON:0011216", - "UBERON:0001969", - "UBERON:0005172", - "UPHENO:0052038", - "HP:0020129", - "UPHENO:0046348", - "UBERON:0005177", - "UPHENO:0051847", - "CHEBI:36359", - "HP:0003110", - "UBERON:0001088", - "UPHENO:0051686", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0068292", - "UPHENO:0084654", - "CHEBI:26082", - "HP:0010935", - "UBERON:0004122", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0001474", - "HP:0011277", - "HP:0012599", + "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:0084763", - "HP:0000924", - "UBERON:0000174", - "GO:0001503", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0004708", - "UBERON:0001434", - "UBERON:0000062", - "HP:0000083", - "GO:0032501", - "UPHENO:0082835", - "UPHENO:0075696", - "HP:0011842", - "HP:0004348", - "UPHENO:0084653", - "UBERON:0002204", - "UPHENO:0068054", - "UPHENO:0020041", - "HP:0003330", - "UPHENO:0041610", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0068251", - "UBERON:0004288", - "UBERON:0000064", - "HP:0002814", - "RO:0002577", - "UBERON:0034944", - "UPHENO:0002896", - "UPHENO:0080300", - "UPHENO:0004459", - "UBERON:0002428", - "UBERON:0005913", - "UBERON:0004381", - "UPHENO:0080352", - "UBERON:0000179", - "UBERON:0000026", - "HP:0033127", - "UPHENO:0086635", - "UBERON:0000475", - "UPHENO:0041536", - "UBERON:0002529", - "UPHENO:0086780", - "UBERON:0000075", - "UBERON:0010912", - "UBERON:0011582", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0004322", - "UBERON:0015061", - "CHEBI:33917", - "UBERON:0004375", - "UBERON:0002103", - "UBERON:0010538", - "UPHENO:0051630", - "UPHENO:0068190", - "UBERON:0010712", - "CHEBI:35605", - "UPHENO:0041591", - "UBERON:0002091", - "UPHENO:0031310", - "UPHENO:0020584", + "UPHENO:0002816", + "UBERON:0011143", + "HP:0011036", + "CHEBI:78616", + "HP:0000077", "UBERON:0013702", "CHEBI:33304", - "HP:0002813", - "HP:0011314", - "UPHENO:0080658", - "UBERON:0002495", - "HP:0000079", - "UBERON:0002513", - "UPHENO:0084767", - "UPHENO:0086628", - "UPHENO:0076285", - "UBERON:0015212", - "UBERON:0010709", - "UBERON:0006058", - "UPHENO:0041226", - "UPHENO:0075952", - "HP:0040068", - "HP:0002979", + "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:0002471", - "CHEBI:33608", - "HP:0000940", - "GO:0042592", - "UBERON:0034925", - "UPHENO:0068472", - "UBERON:0000154", - "HP:0003259", - "UBERON:0010758", - "UPHENO:0068040", - "UBERON:0008784", - "UPHENO:0077858", - "UPHENO:0003070", - "UBERON:0010740", - ], - "has_phenotype_closure_label": [ - "macromolecule", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "increased level of protein polypeptide chain in independent continuant", - "Abnormal urine protein level", - "peptide", - "increased level of carboxylic acid in independent continuant", - "organic amino compound", + "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 amino acid in urine", - "hydroxides", - "carbon oxoacid", - "carbonyl compound", - "abnormal independent continuant amino acid level", - "Abnormal urine pH", - "increased independent continuant base level", - "abnormal urine amino acid level", - "hydrogen molecular entity", - "increased level of organic acid in urine", + "increased level of carboxylic acid in independent continuant", "amino acid", - "increased level of amino acid in independent continuant", + "Elevated urinary carboxylic acid", "increased level of organic acid in independent continuant", - "abnormal amino acid level", + "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", - "Short stature", - "Abnormality of body height", - "decreased size of the anatomical entity in the independent continuant", - "decreased height of the multicellular organism", - "kidney", - "cavitated compound organ", - "abdomen element", - "Abnormality of the kidney", - "Renal insufficiency", - "trunk region element", - "abnormal kidney", - "abdominal segment of trunk", - "trunk", - "abdomen", - "Abnormality of the upper urinary tract", - "non-functional kidney", - "non-functional anatomical entity", - "main body axis", - "subdivision of organism along main body axis", + "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 urine metabolite level", - "body proper", - "increased level of glucose in urine", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "abnormal role urine level", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", - "glucose", - "aldose", - "hexose", - "abnormal urine glucose level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormal phosphate level", - "abnormality of kidney physiology", - "main group molecular entity", - "increased level of creatinine in independent continuant", - "primary amide", - "abnormal blood nitrogen molecular entity level", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "organonitrogen heterocyclic compound", - "abnormal shape of continuant", - "molecule", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", + "abnormal independent continuant glucose level", + "increased level of monosaccharide in urine", + "organic molecular entity", "oxygen molecular entity", - "anatomical system", - "abnormal independent continuant carbohydrate level", - "organic molecule", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "organooxygen compound", - "upper urinary tract", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "blood plasma", + "increased level of organic molecular entity in independent continuant", + "Abnormal urine metabolite level", + "Hypophosphatemia", + "monoatomic ion", "decreased size of the anatomical entity", "blood", - "abdominal segment element", - "Glycosuria", - "Abnormal bone ossification", - "hindlimb", - "organic molecular entity", - "heteromonocyclic compound", - "haemolymphatic fluid", - "multicellular organism", - "hematopoietic system", - "increased level of nitrogen molecular entity in blood", - "abnormal blood chemical entity level", - "imidazolidines", - "increased level of chemical entity in blood serum", - "urine", - "increased level of creatinine in blood serum", - "excretory system", - "imidazolidinone", - "Abnormal circulating creatinine concentration", - "increased level of chemical entity", - "heteroorganic entity", - "abnormal role blood serum level", - "phosphorus molecular entity", - "Azotemia", - "cyclic amide", - "paired limb/fin segment", + "inorganic ion", "pnictogen molecular entity", - "abnormal blood serum chemical entity level", - "curved long bone", - "phenotype by ontology source", - "growth", - "monocyclic compound", - "Abnormal bone structure", - "organic cyclic compound", - "phenotype", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "long bone", - "increased independent continuant acid level", - "chemical entity", - "material anatomical entity", - "Metabolic acidosis", - "Abnormal renal physiology", - "chalcogen molecular entity", - "s-block molecular entity", - "increased level of chemical entity in blood plasma", - "Elevated circulating creatinine concentration", - "abnormal independent continuant creatinine level", - "molecular entity", - "Abnormality of blood and blood-forming tissues", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "inorganic ion homeostasis", + "Reduced bone mineral density", "organism substance", - "increased level of chemical entity in blood", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "abnormal role independent continuant level", - "process", - "abnormal blood plasma chemical entity level", - "multi-limb segment region", - "bodily fluid", - "abnormal urine phosphate level", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "independent continuant", - "abnormal growth", - "genitourinary system", - "abnormal blood creatinine level", - "abnormal acid independent continuant level", - "organic heteromonocyclic compound", - "oxoacid", - "delayed biological_process", - "limb skeleton subdivision", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "carbon group molecular entity", - "increased blood serum role level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "phosphorus oxoacid derivative", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "anatomical structure", + "primary amide", + "elemental molecular entity", + "decreased level of chemical entity in blood", + "phenotype by ontology source", "polypeptide", - "abnormal limb", "Abnormality of bone mineral density", - "Bowing of the long bones", - "Acidosis", - "material entity", - "Phenotypic abnormality", - "Hyperphosphaturia", - "Abnormal circulating organic compound concentration", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", - "delayed growth", + "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", - "posterior region of body", + "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", - "blood serum", "increased level of chemical entity in independent continuant", - "metabolic process", + "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", - "Elevated urinary carboxylic acid", - "skeleton", - "anatomical entity", - "carboxamide", - "endochondral element", + "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", - "appendicular skeleton", + "abnormal anatomical entity", + "Metabolic acidosis", + "decreased level of potassium atom in blood", "Abnormality of acid-base homeostasis", - "Abnormal homeostasis", - "organochalcogen compound", - "homeostatic process", - "abnormal hindlimb zeugopod morphology", - "appendage girdle complex", - "organic heterocyclic compound", - "organic acid", - "Abnormal circulating metabolite concentration", - "ossification", - "abnormal hindlimb zeugopod", - "organism subdivision", - "protein polypeptide chain", - "continuant", - "cyclic compound", - "appendage", - "organonitrogen compound", - "polyatomic entity", + "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", - "lactam", - "increased independent continuant role level", - "creatinine", - "subdivision of skeletal system", - "entity", + "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", - "Growth abnormality", - "increased blood role level", - "leg", - "Abnormality of the skeletal system", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "abnormal leg", - "All", - "anatomical collection", - "Growth delay", - "diaphysis", - "renal system", - "abnormal urine chemical entity level", - "Abnormality of the urinary system physiology", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "zone of bone organ", - "abnormality of anatomical entity physiology", - "compound organ", + "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", - "quality", - "abnormality of renal system physiology", - "phosphoric acid derivative", - "abnormal renal system", - "hindlimb zeugopod", - "Abnormal long bone morphology", - "increased level of phosphate in urine", + "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", - "Aciduria", - "Abnormality of the urinary system", - "abnormal genitourinary system", - "abnormal hindlimb morphology", + "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", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "increased level of phosphate in independent continuant", - "abnormal skeletal system", - "Abnormal skeletal morphology", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", + "alkali metal cation", + "musculature", + "decreased role blood level", "hemolymphoid system", "Rickets", - "abnormal independent continuant glucose level", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal hindlimb zeugopod, curved", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal anatomical entity mass density", - "heterocyclic compound", - "skeletal system", - "multicellular organismal process", - "organ part", - "abnormal size of multicellular organism", - "bone element", - "Decreased anatomical entity mass density", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "diazolidine", - "Reduced bone mineral density", - "Abnormality of the lower limb", - "curved anatomical entity in independent continuant", - "abnormal appendicular skeleton morphology", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity morphology in the independent continuant", - "increased level of protein polypeptide chain in urine", - "limb segment", - "abnormal anatomical entity, curved", - "curved anatomical entity", - "abnormal long bone morphology", - "aldohexose", - "zone of organ", - "shape anatomical entity in independent continuant", - "limb", - "pelvic appendage", - "zone of long bone", - "Abnormality of the calf", - "paired limb/fin", - "subdivision of organism along appendicular axis", - "heteroatomic molecular entity", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "abnormal limb bone morphology", - "lateral structure", - "curved hindlimb zeugopod", - "system", + "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", - "Abnormal appendicular skeleton morphology", - "amide", - "Abnormality of limb bone", - "Organic aciduria", - "Abnormal diaphysis morphology", - "subdivision of skeleton", - "endochondral bone", - "pelvic complex", - "abnormal chemical entity level", - "appendicular skeletal system", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lower limb segment", - "skeletal element", - "zeugopod", - "nitrogen molecular entity", - "abnormal limb morphology", - "abnormal diaphysis morphology", - "increased bodily fluid role level", - "biological_process", - "carbohydrate", + "hexose", + "organooxygen compound", + "heteroorganic entity", + "body proper", + "increased level of glucose in urine", ], }, { - "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:0024525", + "id": "MONDO:0014275", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "OMIM:134600"], + "name": "Fanconi renotubular syndrome 3", + "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], "provided_by": "phenio_nodes", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", "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:0002749", "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0003155", - "HP:0002148", - "HP:0000124", + "HP:0001510", + "HP:0003259", "HP:0003109", - "HP:0002900", "HP:0002748", - "HP:0034359", + "HP:0002979", "HP:0003076", - "HP:0003355", + "HP:0000083", "HP:0004322", + "HP:0003355", "HP:0003126", - "HP:0000083", ], "has_phenotype_label": [ - "Osteomalacia", "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", - "Hypophosphatemia", - "Renal tubular dysfunction", + "Growth delay", + "Elevated circulating creatinine concentration", "Hyperphosphaturia", - "Hypokalemia", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Bowing of the legs", "Glycosuria", - "Aminoaciduria", + "Renal insufficiency", "Short stature", + "Aminoaciduria", "Low-molecular-weight proteinuria", - "Renal insufficiency", ], - "has_phenotype_count": 16, + "has_phenotype_count": 11, "has_phenotype_closure": [ + "UPHENO:0068247", + "HP:0000093", "UPHENO:0068565", - "CHEBI:37622", - 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"UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UPHENO:0002320", - "UPHENO:0084653", - "UPHENO:0001001", - "UBERON:0000062", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0001474", - "UPHENO:0082875", - "UBERON:0002100", - "CHEBI:28358", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "UBERON:0002204", + "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", - "CHEBI:33582", - "UBERON:0000465", + "UBERON:0004769", "UPHENO:0082538", - "UBERON:0000489", + "PR:000050567", + "BFO:0000003", + "HP:0011844", + "UBERON:0004709", "BFO:0000001", - "CHEBI:24833", - "UBERON:0001008", - "UPHENO:0082834", - "BFO:0000040", - "HP:0004349", - "GO:0042592", - "HP:0004348", - "HP:0002749", - "CHEBI:23906", - "HP:0003011", - "HP:0012337", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0068089", + "CHEBI:16737", + "UPHENO:0076289", + "CHEBI:25693", + "UBERON:0000061", "BFO:0000015", - "UBERON:0000174", - "HP:0000924", - "HP:0003330", - "UPHENO:0078554", - "UPHENO:0002332", - "CHEBI:33259", - "HP:0011277", - "UPHENO:0046283", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33285", - "UPHENO:0001003", - "HP:0003155", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0081550", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", + "UBERON:0005055", "HP:0003110", "CHEBI:36359", - "GO:0008150", - "UPHENO:0051763", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0048707", + "HP:0011849", + "UBERON:0011216", + "UBERON:0005172", + "UPHENO:0052038", + "UBERON:0001969", "UBERON:0001062", - "CHEBI:72695", - "UPHENO:0068064", - "CHEBI:26079", - "CHEBI:33839", - "UPHENO:0082943", - "UPHENO:0075666", - "UPHENO:0002411", - "UBERON:0004120", - "HP:0002148", - "CHEBI:33304", - "HP:0010930", - "UBERON:0013702", - "UPHENO:0050080", - "GO:0098771", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", - "CHEBI:33250", - "UBERON:0002113", + "UPHENO:0001005", + "UBERON:0000465", + "CHEBI:33582", + "UPHENO:0081547", + "HP:0012337", "HP:0032180", - "CHEBI:25367", - "HP:0011042", - "CHEBI:26082", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", - "GO:0048878", - "UPHENO:0051937", - "UBERON:0002193", - "UPHENO:0051960", - "CHEBI:24870", - "UBERON:0000064", + "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", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "HP:0001510", - "HP:0003109", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", + "CHEBI:26082", + "UPHENO:0051686", + "HP:6000531", + "UPHENO:0068352", "UPHENO:0051739", - "UPHENO:0079824", "UPHENO:0051900", - "UPHENO:0049628", - "CHEBI:33238", - "UPHENO:0052008", + "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:0034217", - "UBERON:0011676", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "UPHENO:0082543", - "UBERON:0000483", - "CHEBI:24431", - "HP:0003111", - "CHEBI:33318", - "PR:000003968", - "UBERON:0000479", - "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012211", - "UBERON:0015212", - "CHEBI:78616", - "HP:0000077", - "HP:0001992", - "UBERON:0010000", - "UPHENO:0051709", - "UBERON:0002390", - "UPHENO:0066943", - "UPHENO:0049709", - "HP:0004322", - "CHEBI:26216", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0004122", - "HP:0010935", - "UBERON:0005172", + "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", - "HP:0002748", - "UPHENO:0002832", "UPHENO:0002803", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UPHENO:0002816", - "UBERON:0011143", - "UBERON:0004819", - "HP:0012599", - "CHEBI:33296", - "PR:000000001", - 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"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": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "carboxamide", - "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", + "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", - "peptide", - "growth", - "Growth delay", - "Abnormality of body height", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "increased level of carboxylic acid in independent continuant", "carboxylic acid", - "molecule", - "increased level of amino acid in urine", - "hydroxides", - "organic molecule", - "carbonyl compound", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "Organic aciduria", - "abnormal urine amino acid level", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", + "abnormal independent continuant amino acid level", + "increased level of carboxylic acid in independent continuant", "amino acid", - "Elevated urinary carboxylic 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 urine metabolite level", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "oxygen molecular entity", - "organooxygen compound", + "abnormal role urine level", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "aldohexose", - "increased level of organic molecular entity in independent continuant", + "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", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", - "monosaccharide", - "abnormal renal system process", - "renal absorption", - "abnormal renal absorption", - "abnormal independent continuant amino acid level", - "renal system process", + "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", - "protein-containing molecular entity", - "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", - "pnictogen molecular entity", - "abnormality of muscle organ physiology", - "increased level of protein", - "increased level of glucose in urine", - "body proper", - "decreased muscle organ strength", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abdominal segment of trunk", - "musculature of body", - "monoatomic cation", - "Abnormality of the upper urinary tract", - "chemical substance", - "abnormal independent continuant potassium atom level", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "increased level of rac-lactic acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "organic oxo compound", - "excreta", - "abnormal acid bodily fluid level", - "monoatomic monocation", - "Abnormality of the urinary system", "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "increased level of rac-lactic acid in independent continuant", - "skeletal element", - "cavitated compound organ", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "chemical entity", - "increased independent continuant acid level", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", + "Abnormality of the urinary system", + "oxygen molecular entity", + "increased level of creatinine in blood", "increased bodily fluid acid level", - "abnormal blood monoatomic ion level", - "decreased level of potassium atom in blood", - "Metabolic acidosis", - "homeostatic process", - "protein", - "phenotype by ontology source", - "decreased level of chemical entity in blood", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "Phenotypic abnormality", - "Hyperphosphaturia", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "Abnormal bone structure", - "anatomical system", - "potassium(1+)", - "All", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", "decreased height of the anatomical entity", "abnormal metabolite independent continuant level", - "abnormal size of multicellular organism", - "bone element", - "Abnormal renal tubular resorption", - "anatomical entity", - "multicellular anatomical structure", - "heteroorganic entity", - "abnormal bone element mass density", - "decreased role independent continuant level", - "Muscle weakness", - "organ part", - "abnormal musculature", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system", - "process", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "genitourinary system", - "atom", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "carbon group molecular entity", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "Abnormal circulating enzyme concentration or activity", - "organism subdivision", + "increased level of chemical entity in blood serum", "urine", - "material entity", - "organic amino compound", - "Acidosis", + "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", - "inorganic cation", - "Glycosuria", - "information biomacromolecule", - "abdominal segment element", - "Abnormal bone ossification", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "blood plasma", "decreased size of the anatomical entity", "blood", - "racemate", - "phosphate ion homeostasis", - "inorganic ion", - "abnormal genitourinary system", - "Aminoaciduria", - "organ system subdivision", - "primary amide", - "elemental molecular entity", - "nitrogen molecular entity", - "renal system", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "Abnormality of the genitourinary system", - "Reduced bone mineral density", - "inorganic ion homeostasis", - "Impaired renal tubular reabsorption of phosphate", - "multicellular organism", - "hematopoietic system", - "abnormal monoatomic cation homeostasis", - "alkaline phosphatase, tissue-nonspecific isozyme", - "nephron epithelium", - "polyatomic entity", - "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", - "organochalcogen compound", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", + "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", - "biomacromolecule", - "Abnormality of urine homeostasis", - "upper urinary tract", - "occurrent", - "organ", - "skeletal system", - "Abnormality of the urinary system physiology", - "abnormal blood chemical entity level", - "macromolecule", - "material anatomical entity", - "muscle structure", - "metabolic process", - "bodily fluid", - "abnormal urine phosphate level", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", + "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", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "main group molecular entity", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "chemical homeostasis", "abnormal independent continuant carboxylic acid level", "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal chemical homeostasis", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "haemolymphatic fluid", - "ion", - "abnormal homeostatic process", - "multicellular organismal process", - "abnormal blood phosphate level", - "Hypophosphatemia", - "monoatomic ion", - "abnormal role bodily fluid level", - "abnormal biological_process", - "potassium atom", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "trunk", - "phosphorus molecular entity", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", + "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", - "ossification", "Abnormal circulating metabolite concentration", - "main body axis", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "kidney epithelium", - "compound organ", - "abdomen", - "Renal tubular dysfunction", - "abnormal kidney", - "trunk region element", - "Abnormality of the kidney", - "lateral structure", - "chalcogen molecular entity", + "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", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "excretory tube", - "kidney", + "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", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "musculature", - "decreased role blood level", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "s-block molecular entity", - "s-block element atom", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium(1+) level", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "elemental potassium", - "Hypokalemia", - "Abnormal blood monovalent inorganic cation concentration", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", + "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", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "decreased level of chemical entity", - "abnormal phosphate level", - "system process", + "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", ], }, { @@ -7481,13 +7481,13 @@ def search_response(): "has_phenotype": [ "HP:0002857", "HP:0045051", - "HP:0002097", "HP:0002148", "HP:0002206", "HP:0004912", "HP:0004918", "HP:0000093", "HP:0003076", + "HP:0002097", "HP:0003355", "HP:0005576", "HP:0003774", @@ -7497,13 +7497,13 @@ def search_response(): "has_phenotype_label": [ "Genu valgum", "Decreased DLCO", - "Emphysema", "Hypophosphatemia", "Pulmonary fibrosis", "Hypophosphatemic rickets", "Hyperchloremic metabolic acidosis", "Proteinuria", "Glycosuria", + "Emphysema", "Aminoaciduria", "Tubulointerstitial fibrosis", "Stage 5 chronic kidney disease", @@ -7513,292 +7513,295 @@ def search_response(): "has_phenotype_count": 14, "has_phenotype_closure": [ "HP:0100526", - "HP:0011793", "HP:0002664", - "UBERON:0000477", + "HP:0011793", + "UBERON:0000055", "UBERON:0034923", "HP:0002597", - "UPHENO:0002678", "UBERON:0002049", "UBERON:0001009", - "UBERON:0000055", - "HP:0001626", - "HP:0000822", + "UPHENO:0002678", "UBERON:0004535", "UBERON:0001981", + "UBERON:0000477", + "HP:0000822", "HP:0030972", - "HP:0012622", + "HP:0001626", "UPHENO:0086132", "HP:0003774", "HP:0012211", - "UPHENO:0076779", - "UBERON:0004819", + "HP:0012622", + "UBERON:0000479", "HP:0012210", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0076714", - "UBERON:0005173", - "UBERON:0000916", "UBERON:0005172", - "UBERON:0000489", "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", + "UBERON:0000916", "HP:0000091", - "UBERON:0000479", + "UBERON:0000489", + "UBERON:0005173", + "UPHENO:0076779", + "UPHENO:0076714", + "UBERON:0004819", "HP:0030760", - "UPHENO:0075902", "UBERON:0001231", - "UPHENO:0068169", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075902", + "UPHENO:0051670", "CHEBI:36586", - "UPHENO:0068495", - "CHEBI:33575", - "UPHENO:0076756", - "CHEBI:25367", - "CHEBI:24651", - "UBERON:0004537", - "UPHENO:0046286", - "UPHENO:0051930", - "UPHENO:0051739", "CHEBI:36587", - "HP:0031980", - "UPHENO:0051670", + "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", - "CHEBI:33674", - "UPHENO:0068058", + "UPHENO:0076756", + "CHEBI:25367", + "HP:0002097", "HP:0000077", "CHEBI:78616", "UPHENO:0051635", - "UPHENO:0052116", "HP:6000531", + "CHEBI:18133", + "CHEBI:33674", + "UPHENO:0068058", "CHEBI:17234", "CHEBI:35381", "CHEBI:16646", - "CHEBI:18133", - "UPHENO:0002442", - "UPHENO:0068565", + "UPHENO:0052116", "CHEBI:37622", "CHEBI:50047", - "CHEBI:15841", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0068247", + "UBERON:0001088", + "UPHENO:0002442", + "UPHENO:0068565", "HP:0011277", + "HP:0033354", + "CHEBI:16541", "HP:0010935", "UBERON:0004122", "UBERON:8450002", - "HP:0033354", + "UPHENO:0068538", "CHEBI:33285", "CHEBI:32988", "CHEBI:35352", + "UPHENO:0051686", + "CHEBI:50860", "HP:0032581", "CHEBI:36962", "CHEBI:51143", - "UPHENO:0051686", - "CHEBI:16541", - "UBERON:0001088", - "CHEBI:50860", - "UPHENO:0068247", - "CHEBI:15693", - "UPHENO:0081544", + "CHEBI:15841", "HP:0000119", "UPHENO:0082542", - "CHEBI:16670", "CHEBI:24833", "UBERON:0001008", - "UPHENO:0068538", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0082539", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0082467", - "UBERON:0011676", - "UBERON:0000072", - "UBERON:0010740", + "CHEBI:16670", "UPHENO:0068040", "UBERON:0008784", - "UBERON:0004288", - "UBERON:0010758", + "UPHENO:0068089", + "UBERON:0000170", + "HP:0006487", + "UPHENO:0004536", + "UBERON:0000062", + "UPHENO:0041610", + "UBERON:0010912", + "UBERON:0011582", + "UBERON:0000075", "UBERON:0000061", - "UPHENO:0041098", - "UPHENO:0002830", - "UBERON:0011249", - "UPHENO:0001003", - "UPHENO:0002642", - "HP:0100491", - "UPHENO:0081548", - "UPHENO:0015280", - "HP:0003110", - "CHEBI:36359", - "UBERON:0000174", - "HP:0000924", - "UPHENO:0041226", - "UBERON:0010363", - "UBERON:0010709", "UPHENO:0068054", "UPHENO:0020041", "UPHENO:0075945", "UPHENO:0084767", - "UPHENO:0031310", - "UPHENO:0020584", + "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", - "UPHENO:0002964", - "UBERON:0002101", - "UPHENO:0068144", - "UBERON:0010707", "UBERON:0004120", "HP:0040064", + "UPHENO:0068144", + "UBERON:0010707", "HP:0011025", "HP:0001969", "UBERON:0005055", "BFO:0000015", - "UPHENO:0086628", - "UBERON:0002529", "UPHENO:0041536", - "UPHENO:0076727", - "BFO:0000020", - "UPHENO:0068491", - "CHEBI:36360", - "HP:0100606", - "UPHENO:0084763", - "UPHENO:0001005", - "UBERON:0005913", - "UPHENO:0041610", - "UBERON:0000062", - "HP:0012575", - "UPHENO:0081550", + "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:0000001", - "UBERON:0004111", - "UBERON:0006058", - "HP:0033127", - "UPHENO:0086635", - "BFO:0000004", - "UBERON:0000026", - "UBERON:0000179", - "UBERON:0004381", - "UBERON:0011582", - "UBERON:0010912", - "UPHENO:0001002", "HP:0034669", "HP:0020129", "UPHENO:0046348", "HP:0006530", - "BFO:0000002", + "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", - "UPHENO:0086956", - "UPHENO:0002885", - "UPHENO:0076692", - "UPHENO:0002536", + "UBERON:0000174", + "HP:0000924", + "UBERON:0010709", "UBERON:0000154", + "UPHENO:0086628", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0004288", + "HP:0012575", + "UPHENO:0081550", "UPHENO:0076703", - "HP:0002814", - "UPHENO:0051801", - "UBERON:0001465", - "UPHENO:0076767", - "UBERON:0034944", - "UPHENO:0080300", - "UPHENO:0002896", - "HP:0012252", - "HP:0000118", - "UPHENO:0031193", - "UBERON:0000178", + "UPHENO:0003070", + "CHEBI:25806", + "UPHENO:0082449", + "HP:0000079", + "UBERON:0002513", "UBERON:0001062", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0005178", - "UBERON:0011216", - "UBERON:0004770", - "UBERON:0002417", - "UPHENO:0082129", - "CHEBI:37577", + "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", - "BFO:0000001", + "UBERON:0002417", + "UPHENO:0082129", + "CHEBI:37577", + "UBERON:0015061", + "HP:0011314", + "UPHENO:0001001", + "UBERON:0002204", + "UPHENO:0086908", "UBERON:0001434", - "UPHENO:0076299", - "UBERON:0004708", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "HP:0040068", - "UPHENO:0075952", - "UPHENO:0002411", - "HP:0002981", - "UBERON:0006555", - "UPHENO:0086780", - "UBERON:0010538", - "HP:0003076", - "UBERON:0013522", - "HP:0006487", - "UPHENO:0004536", - "UPHENO:0001001", - "UBERON:0002204", - "UPHENO:0086908", + "UPHENO:0041226", "UPHENO:0080658", "UBERON:0002495", "UBERON:0000468", - "UBERON:0010712", - "UPHENO:0034253", "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", - "HP:0000079", - "UBERON:0002513", - "UBERON:0000075", - "UPHENO:0003070", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0011314", - "UBERON:0015061", - "UPHENO:0077858", - "CHEBI:35605", - "UBERON:0002091", - "UPHENO:0041591", - "UPHENO:0002406", - "BFO:0000040", - "UPHENO:0082834", - "HP:0004349", - "HP:0002815", - "CHEBI:33917", - "UBERON:0004375", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UBERON:0002103", - "UBERON:0015212", - "UPHENO:0041258", - "UBERON:0005177", - "UPHENO:0051847", - "CHEBI:33582", - "UBERON:0000465", - "UBERON:0004769", - "UPHENO:0082538", + "UPHENO:0002448", "UBERON:0001004", + "HP:0045051", + "HP:0002086", + "GO:0001503", + "GO:0008150", + "UPHENO:0041573", + "HP:0030878", "UPHENO:0087427", "UPHENO:0078554", "UPHENO:0002332", "CHEBI:33259", - "UPHENO:0041573", - "HP:0030878", "HP:0045049", "UBERON:0000978", "HP:0100529", @@ -7807,60 +7810,26 @@ def search_response(): "UPHENO:0082875", "CHEBI:36963", "UPHENO:0051186", - "HP:0002086", - "GO:0001503", - "HP:0045051", - "GO:0008150", - "UPHENO:0002448", - "UBERON:0000475", - "UPHENO:0087433", - "UBERON:0001558", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "HP:0002097", - "UPHENO:0068110", - "UBERON:0003103", - "CHEBI:33256", - "UBERON:0000025", - "CHEBI:24867", - "HP:0005576", - "UBERON:0001005", - "PATO:0000001", - "UBERON:0004905", - "HP:0002088", - "UPHENO:0020748", - "UBERON:0005181", - "UBERON:0002075", - "HP:0003355", - "UPHENO:0019970", + "UPHENO:0050080", + "HP:0002148", "UBERON:0007798", "CHEBI:33304", "HP:0002813", "UBERON:0013702", - "HP:0002148", - "UBERON:0002048", - "UBERON:0000171", - "UBERON:0004119", - "CHEBI:33302", - "UBERON:0034925", - "HP:0002795", - "GO:0042592", - "UPHENO:0087993", - "GO:0008152", + "HP:0003355", + "UPHENO:0019970", "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "UBERON:0003657", - "CHEBI:23367", - "HP:0032263", - "UPHENO:0046284", - "UBERON:0000915", - "UPHENO:0034391", - "HP:0004360", - "UPHENO:0050080", + "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", @@ -7871,178 +7840,211 @@ def search_response(): "GO:0032501", "UBERON:0003823", "HP:0001995", - "UBERON:0000065", - "HP:0032180", + "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", - "UPHENO:0049904", - "UPHENO:0066739", - "GO:0048878", + "UBERON:0000982", + "UPHENO:0034217", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:33675", + "UBERON:0002193", "UPHENO:0051763", "UPHENO:0080362", "UPHENO:0051937", - "HP:0004912", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051960", - "UPHENO:0034351", - "UPHENO:0084654", "HP:0001939", - "CHEBI:33241", - "UPHENO:0049628", - "CHEBI:33238", + "HP:0003111", + "CHEBI:24431", + "UPHENO:0049904", + "UPHENO:0066739", + "CHEBI:33839", + "CHEBI:26079", + "GO:0048878", "HP:0040156", "HP:0002857", "UBERON:0000463", "CHEBI:26020", - "UBERON:0006314", - "CHEBI:33839", - "CHEBI:26079", - "UBERON:0000982", - "UPHENO:0034217", - "HP:0003111", - "CHEBI:24431", - "UPHENO:0079873", - "HP:0002206", + "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:0003330", "HP:0004918", - "UPHENO:0081547", - "HP:0012337", - "UBERON:0000170", - "UPHENO:0068089", "UPHENO:0076289", - "CHEBI:72695", - "UPHENO:0068064", "UBERON:0000483", - "UBERON:0002471", "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", - "disconnected anatomical group", - "abnormal cardiovascular system", - "Hypertension", "Abnormal systemic blood pressure", - "abnormal vasculature", - "Chronic kidney disease", + "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", - "Abnormal renal morphology", - "abdomen element", + "abdominal segment of trunk", + "abdomen", + "abnormal kidney", + "Abnormal renal morphology", "tissue", "anatomical cluster", "abnormal kidney epithelium morphology", - "Abnormality of the kidney", - "renal tubule", - "uriniferous tubule", - "nephron epithelium", - "Abnormal renal insterstitial morphology", - "abnormal kidney", - "abdominal segment of trunk", - "abdomen", "Abnormality of the upper urinary tract", "Abnormal nephron morphology", - "Increased blood pressure", - "Tubulointerstitial fibrosis", - "increased level of carboxylic acid in independent continuant", "carboxylic acid", - "molecule", - "increased level of amino acid in urine", - "hydroxides", - "organic molecule", + "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 independent continuant amino acid level", - "abnormal amino acid level", + "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", - "abnormal nephron tubule morphology", - "increased level of organic acid in urine", - "increased level of carboxylic acid in urine", - "amino acid", - "s-block molecular entity", - "oxoacid", - "increased level of organic acid in independent continuant", + "increased level of amino acid in urine", + "abnormal amino acid level", + "Emphysema", "increased level of glucose in independent continuant", - "abnormal metabolite independent continuant level", - "carbohydrates and carbohydrate derivatives", + "abnormal independent continuant carbohydrate level", + "Abnormal urinary organic compound level", "Lung adenocarcinoma", "increased level of monosaccharide in urine", - "Abnormal urinary organic compound level", + "abnormal metabolite independent continuant level", + "abnormal urine glucose level", "glucose", "aldose", "hexose", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", "monosaccharide", - "Abnormal urine metabolite level", + "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", - "carboxamide", - "organic amino compound", "macromolecule", "abnormal genitourinary system", - "abnormal independent continuant protein polypeptide chain level", - "Aciduria", - "Abnormality of the urinary system", + "organic molecular entity", "oxygen molecular entity", + "organic oxo compound", + "excreta", + "increased independent continuant base level", "abnormal independent continuant nitrogen molecular entity level", - "abnormal renal system", - "heteroorganic entity", - "organooxygen compound", - "abnormal role urine level", - "vascular system", - "increased level of chemical entity in urine", "increased level of protein polypeptide chain in independent continuant", "upper urinary tract", "Abnormal tubulointerstitial morphology", "Abnormality of urine homeostasis", - "organic molecular entity", - "urine", - "Abnormality of the urinary system physiology", - "Abnormal urine protein level", - "organic oxo compound", - "excreta", - "increased independent continuant base level", - "renal system", "genitourinary system", - "abnormal shape of continuant", + "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", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "zone of bone organ", - "appendicular skeleton", - "pelvic complex", - "curvature anatomical entity in independent continuant", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "nephron", - "curved long bone", - "occurrent", - "organ", - "Stage 5 chronic kidney disease", - "mesoderm-derived structure", - "zone of long bone", - "Hyperchloremic metabolic acidosis", - "Emphysema", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", "skeletal system", "blood", "long bone", @@ -8050,122 +8052,153 @@ def search_response(): "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", - "Abnormal respiratory system physiology", - "homeostatic process", - "organochalcogen compound", - "Abnormal homeostasis", - "lower limb segment", - "abnormal skeletal joint morphology", + "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 by ontology source", - "amide", - "Abnormality of limb bone", - "anatomical entity", - "material entity", - "Abnormal appendicular skeleton morphology", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", + "phenotype", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", "Proteinuria", - "abnormal skeletal system morphology", "protein-containing material entity", - "hindlimb", - "epithelium", - "system", - "subdivision of tube", - "abnormal anatomical 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", - "limb segment", "Abnormal joint morphology", - "increased level of amino acid in independent continuant", - "thoracic segment of trunk", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "Non-small cell lung carcinoma", - "skeletal joint", - "abnormal limb bone morphology", - "aldohexose", - "zone of organ", - "abnormal long bone morphology", - "organonitrogen compound", - "appendage", - "tube", - "Abnormality of acid-base homeostasis", + "limb segment", "organ part", "abnormal blood phosphate level", "multicellular organismal process", - "limb skeleton subdivision", - "paired limb/fin segment", - "Abnormality of the knee", - "abnormal lung morphology", - "subdivision of organism along appendicular axis", - "abnormal skeletal system", - "Abnormality of the lower limb", "curved anatomical entity in independent continuant", + "Abnormality of the lower limb", "abnormal appendicular skeleton morphology", "abnormal phenotype by ontology source", "subdivision of trunk", - "abnormal renal system morphology", - "abnormal hindlimb joint", - "All", - "anatomical collection", - "vessel", - "diaphysis", - "abnormal leg", - "non-functional anatomical entity", - "thoracic segment organ", - "subdivision of skeleton", - "endochondral bone", - "articular system", - "Hypophosphatemia", - "leg", - "monoatomic ion", - "chemical homeostasis", - "Genu valgum", - "limb joint", - "limb bone", - "shape anatomical entity in independent continuant", - "phenotype", "abnormal upper urinary tract", - "curvature anatomical entity", "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", - "abnormal knee morphology", - "Abnormal respiratory system morphology", - "shape anatomical entity", "skeleton of limb", "Abnormal pulmonary interstitial morphology", - "vasculature", - "Abnormal long bone morphology", - "hindlimb zeugopod", - "Abnormal urine carboxylic acid level", - "decreased level of chemical entity", - "abnormal phosphate level", + "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", - "curved hindlimb zeugopod", - "kidney", - "articulation", - "blood vessel", - "multi-limb segment region", "abnormal diaphysis morphology", "lateral structure", - "anatomical structure", - "Bowing of the long bones", - "anatomical conduit", - "polypeptide", - "abnormal limb", - "Abnormality of bone mineral density", - "endochondral element", - "hindlimb joint", - "trunk", - "oxoacid derivative", - "Abnormality of the calf", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal knee morphology", "Hyperchloremic acidosis", "Abnormal bone structure", "Abnormal renal physiology", @@ -8174,161 +8207,128 @@ def search_response(): "abnormal anatomical entity mass density", "decreased level of chemical entity in blood", "shape hindlimb zeugopod", - "Phenotypic abnormality", - "Elevated urinary carboxylic acid", - "skeleton", - "Neoplasm by anatomical site", - "p-block molecular entity", - "abnormality of cardiovascular system physiology", - "limb", - "curved anatomical entity", - "paired limb/fin", - "bone element", - "Renal fibrosis", - "abnormal hindlimb morphology", + "abnormal anatomical entity", + "abnormal shape of continuant", "independent continuant", - "multicellular anatomical structure", - "posterior region of body", - "Metabolic acidosis", - "zeugopod", - "skeletal element", - "appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "limb endochondral element", - "bone of free limb or fin", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lung fibrosis", - "Organic aciduria", - "Abnormal diaphysis morphology", - "Abnormal DLCO", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "Abnormal knee morphology", - "abnormality of respiratory system physiology", - "polyatomic entity", "epithelial tube", "respiratory system", "Abnormal skeletal morphology", "decreased level of phosphate in independent continuant", - "Abnormality of the respiratory system", - "abnormal respiratory system", + "abnormality of respiratory system physiology", + "polyatomic entity", "abnormality of anatomical entity physiology", - "lower respiratory tract", - "Abnormality of lower limb joint", - "anatomical system", - "Abnormal lung morphology", - "haemolymphatic fluid", - "subdivision of organism along main body axis", - "Bowing of the legs", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "lung", - "abnormal kidney morphology", - "main body axis", - "organic acid", - "abnormal hindlimb zeugopod", - "ossification", - "Abnormal circulating metabolite concentration", - "pelvic appendage", - "endoderm-derived structure", - "pair of lungs", - "abnormal respiratory system morphology", - "viscus", - "increased level of glucose in urine", - "Decreased DLCO", - "body proper", - "trunk region element", - "knee", - "Hypophosphatemic rickets", - "respiratory airway", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "abnormal monoatomic ion homeostasis", + "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 independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "abnormal nephron morphology", - "Rickets", - "multi organ part structure", - "hemolymphoid system", - "abnormal bone element mass density", - "appendicular skeletal system", - "abnormal chemical entity level", + "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", - "abnormal role independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "abnormal chemical homeostasis", - "pnictogen molecular entity", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "metabolic process", - "bodily fluid", - "abnormal blood monoatomic ion level", - "respiration organ", - "increased bodily fluid acid 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", - "organism substance", - "kidney epithelium", - "phosphorus oxoacids and derivatives", - "compound organ", - "Abnormal blood phosphate concentration", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "carbon group molecular entity", - "primary amide", - "elemental molecular entity", - "phosphorus oxoacid derivative", - "decreased level of phosphate in blood", - "ion", - "Abnormality on pulmonary function testing", - "proximo-distal subdivision of respiratory tract", - "abnormal homeostatic process", + "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", - "phosphorus molecular entity", - "decreased level of chemical entity in independent continuant", - "Abnormal cardiovascular system physiology", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "paired limb/fin skeleton", - "heteroatomic molecular entity", - "chemical entity", - "increased independent continuant acid level", - "phosphate", - "abnormal multicellular organism chemical entity level", "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 level of chemical entity in bodily fluid", - "increased level of chemical entity", "increased independent continuant role level", - "peptide", - "continuant", - "protein polypeptide chain", - "circulatory system", - "abnormal independent continuant monoatomic ion level", - "excretory system", ], }, { @@ -8343,7930 +8343,5656 @@ def search_response(): "has_phenotype_count": 0, }, { - "id": "MONDO:0014638", + "id": "MONDO:0010953", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "name": "Fanconi anemia complementation group E", + "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", + "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.", "synonym": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T 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", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0004808", + "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:0005528", - "HP:0009942", - "HP:0001903", + "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:0010628", + "HP:0003214", + "HP:0003213", + "HP:0000085", ], "has_phenotype_label": [ - "Acute myeloid leukemia", + "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", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", - "Anemia", + "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", - "Facial palsy", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney", ], - "has_phenotype_count": 11, + "has_phenotype_count": 32, "has_phenotype_closure": [ - "UPHENO:0080556", - "UBERON:0034713", - "UPHENO:0076702", - "HP:0001324", - "UPHENO:0076772", - "UBERON:0001021", - "UBERON:0005162", - "HP:0012638", - "HP:0011799", - "UBERON:0004473", - "UPHENO:0076710", - "HP:0001291", - "UPHENO:0086589", - "UBERON:0002376", - "UBERON:0001577", - "UBERON:0000010", - "UPHENO:0076722", - "UPHENO:0004523", - "UPHENO:0081709", - "UPHENO:0003587", - 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"UPHENO:0053580", + "UBERON:0011143", "UBERON:0000062", - "HP:0011793", - "UBERON:0002544", - "BFO:0000020", - "UPHENO:0087123", - "HP:0001909", - "UBERON:0015063", + "UPHENO:0080099", + "CL:0000219", + "UPHENO:0085371", + "HP:0025354", + "UBERON:0000465", + "CL:0000988", + "HP:0012372", + "HP:0002060", + "BFO:0000003", "UBERON:5002389", "UPHENO:0086049", - "UBERON:0003607", - "UPHENO:0084928", - "UPHENO:0002948", - "HP:0004808", - "HP:0001871", - "UBERON:0001444", - "HP:0011842", - "UPHENO:0075696", - "UBERON:0002470", - "CL:0000000", - "UBERON:0012354", - "GO:0065007", - "UPHENO:0085070", - "HP:0009602", - "UBERON:0011779", - "UPHENO:0077426", - "UPHENO:0087006", - "UPHENO:0085984", - "UPHENO:0002903", - "HP:0011875", - "UBERON:0005451", - "UBERON:0012140", - "HP:0010628", - "UPHENO:0085195", + "PR:000050567", "UBERON:0012475", - "UPHENO:0087369", - "UBERON:0000475", - "UBERON:0012151", - "UPHENO:0080099", - "HP:0040064", - "HP:0001167", - "UBERON:0003606", - "UBERON:0010538", - 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"UBERON:0012357", - "UPHENO:0079876", - "UPHENO:0076740", - "GO:0044237", - "UBERON:0010363", - "UPHENO:0046624", - "UPHENO:0076723", - "HP:0040068", - "UPHENO:0075159", "UPHENO:0002880", - "HP:0001903", - "UBERON:0034925", - "UBERON:0004708", - "UBERON:5002544", - "CL:0000738", - "UBERON:0005881", - "UBERON:0010758", - "UPHENO:0079872", - "UPHENO:0046505", - "UPHENO:0075195", - "UPHENO:0084448", - "UBERON:0004710", - "UPHENO:0011498", - "UBERON:0004249", - "UBERON:0002389", - "UBERON:0001033", - "UBERON:0001690", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0087427", + "CL:0002242", + "UPHENO:0085405", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0087802", + "UPHENO:0088170", "UBERON:0010740", - "HP:0005528", - "UBERON:0010688", - "UBERON:5106048", - "UBERON:0004461", - "UBERON:0015021", - "UBERON:0018254", - "UPHENO:0086956", - "BFO:0000003", - "HP:0009942", - "HP:0031910", - "UBERON:5101463", - "UBERON:0011676", - "HP:0009997", - "UBERON:0015023", - "UBERON:0004381", - "UBERON:0008962", + "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", + "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", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", - "UPHENO:0046411", - "UBERON:0001436", - "UPHENO:0081700", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", - "UBERON:0011216", - "UBERON:0012150", - "UPHENO:0081424", - "UBERON:0010741", - ], - "has_phenotype_closure_label": [ - "skeletal musculature", - "Abnormality of facial soft tissue", - "abnormal muscle organ morphology", - "cranial neuron projection bundle", - "Abnormality of the nervous system", - "decreased muscle organ strength", - "nerve", - "musculature of body", - "neuron projection bundle", - "Abnormal peripheral nervous system morphology", - "Weakness of facial musculature", - "Muscle weakness", - "abnormal peripheral nervous system morphology", - "abnormal nerve", - "decreased anatomical entity strength", - "facial muscle", - "cranial muscle", - "abnormal head morphology", - "subdivision of head", - "Abnormality of the seventh cranial nerve", - "Cranial nerve paralysis", - "Abnormal cranial nerve morphology", - "abnormal craniocervical region morphology", - "abnormal facial nerve", - "gustatory system", - "nervous system", - "nerve of head region", - "multi cell part structure", - "Abnormal skeletal muscle morphology", - "cranial or facial muscle", - "skeletal muscle organ, vertebrate", - "paralysed cranial nerve", - "abnormal nervous system", - "abnormal musculature", - "Abnormal cranial nerve physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "sensory perception of mechanical stimulus", - "sensory perception", - "decreased sensory perception of sound", - "Abnormality of the ear", - "Hearing abnormality", - "sensory system", - "abnormality of anatomical entity physiology", - "Abnormality of head or neck", - "abnormal peripheral nervous system", - "body proper", + "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", + "UBERON:0004710", + "UPHENO:0088162", + "GO:0050794", + "UPHENO:0085875", + "HP:0011121", + "HP:0001903", + "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", + ], + "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", - "changed biological_process rate", - "abnormality of ear physiology", - "musculature", - "Hearing impairment", - "main body axis", - "subdivision of organism along main body axis", - "nervous system process", - "Abnormality of the head", - "growth", - "delayed biological_process", - "Abnormality of the face", - "decreased height of the anatomical entity", - "Growth delay", - "decreased size of the multicellular organism", + "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", - "delayed growth", "decreased height of the multicellular organism", - "system process", "abnormality of multicellular organism height", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "negative regulation of biosynthetic process", - "regulation of macromolecule biosynthetic process", + "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 cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", - "regulation of macromolecule metabolic process", - "negative regulation of metabolic process", - "negative regulation of cellular 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", - "regulation of biological process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Abnormality of the peripheral nervous system", - "decreased qualitatively biological_process", "abnormal cellular component organization", - "Abnormal muscle physiology", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "Abnormality of chromosome stability", - "abnormality of nervous system physiology", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Chromosomal breakage induced by crosslinking agents", + "Abnormality of DNA repair", + "abnormal organelle organization", "metabolic process", - "abnormal cellular 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", - "abnormal facial muscle", - "multicellular organismal process", + "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", + "obsolete heterocycle metabolic process", "obsolete cellular aromatic compound metabolic process", - "organelle organization", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "face", - "Growth abnormality", + "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", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "biological_process", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "anterior region of body", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "abnormal myeloid cell morphology", - "limb bone", - "musculature of face", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "craniocervical muscle", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal nervous system morphology", + "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", - "abnormal limb bone", - "abnormal skeletal system", - "abnormal phalanx of manus morphology", - "occurrent", - "organ", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "forelimb endochondral element", - "multicellular anatomical structure", - "cellular process", - "Abnormal digit morphology", - "Abnormal nervous system physiology", + "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", - "tissue", - "entire sense organ system", - "continuant", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "facial nerve", - "Abnormality of the skeletal system", - "decreased size of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "muscle structure", - "material anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "limb endochondral element", - "Abnormal leukocyte count", - "autopod region", - "skeleton", - "manual digit bone", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "decreased length of anatomical entity", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "decreased length of anatomical entity in independent continuant", - "eukaryotic cell", - "skeleton of pectoral complex", - "Pancytopenia", - "bone marrow", - "acropodium region", - "Abnormal cellular immune system morphology", - "myeloid cell", - "immune system", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "blood cell", - "paired limb/fin segment", - "abnormal cranial nerve morphology", - "cellular metabolic process", - "biogenic amine secreting cell", - "abnormal blood cell morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of bone marrow cell morphology", - "abnormal limb bone morphology", - "serotonin secreting cell", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", "process", "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of cranial nerve physiology", - "abnormal appendicular skeleton morphology", - "abnormal platelet", - "structure with developmental contribution from neural crest", - "long bone", - "Duplication of bones involving the upper extremities", - "non-connected functional system", - "Abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", - "decreased biological_process", - "Short stature", - "Aplasia/hypoplasia of the extremities", - "aplasia or hypoplasia of manual digit", - "digit 1", - "skeletal system", - "motile cell", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormality of facial musculature", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "organic cyclic compound metabolic process", - "manual digitopodium bone", - "segment of autopod", - "Abnormal cellular phenotype", - "skeleton of manus", - "Short finger", - "craniocervical region musculature", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "regulation of biosynthetic process", - "acropodial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "oxygen accumulating cell", - "abnormal forelimb morphology", - "material entity", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "craniocervical region", - "abnormal long bone morphology", - "negative regulation of macromolecule metabolic process", + "system process", + "Duplication of hand bones", "abnormal nitrogen compound metabolic process", - "manual digit 1 digitopodial skeleton", - "hemolymphoid system", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "disconnected anatomical group", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "abnormal hematopoietic system", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "abnormally decreased number of platelet", - "phalanx", - "erythrocyte", - "abnormal blood cell", - "manual digit 1 phalanx", - "organ system subdivision", - "abnormal phenotype by ontology source", - "abnormal size of multicellular organism", - "bone element", - "platelet", - "vestibulo-auditory system", - "hematopoietic cell", - "skeletal element", - "Bone marrow hypocellularity", - "Anemia", - "abnormal bone marrow cell", - "Acute leukemia", - "abnormal immune system", - "abnormal anatomical entity", - "abnormally decreased number of cell", - "muscle organ", - "abnormal anatomical entity length", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "quality", - "phenotype by ontology source", - "anucleate cell", - "manus bone", - "Abnormality of the hand", - "Hematological neoplasm", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "hematopoietic system", - "autopod bone", - "multicellular organism", - "mesoderm-derived structure", - "skeleton of limb", - "nucleate cell", - "Abnormal finger morphology", - "anatomical system", - "anatomical structure", - "abnormally decreased number of myeloid cell", - "Abnormality of the musculoskeletal system", - "Abnormal finger phalanx morphology", - "abnormal bone marrow morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "appendage", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal immune system morphology", - "manual digit 1", - "Aplasia/hypoplasia involving bones of the extremities", - "decreased length of digit", - "Short thumb", - "abnormal manual digit 1 morphology", - "digit 1 plus metapodial segment", - "digit", - "endochondral element", - "abnormality of muscle organ physiology", - "multi-limb segment region", - "manual digit phalanx endochondral element", - "abnormal sensory perception", - "abnormal manus", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", + "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 number of anatomical entities of type anatomical entity in independent continuant", "abnormal skeletal system morphology", - "protein-containing material entity", - "aplasia or hypoplasia of anatomical entity", - "All", - "anatomical collection", - "paired limb/fin", - "digit plus metapodial segment", - "abnormal face", - "autopodial extension", - "subdivision of organism along appendicular axis", - "paired limb/fin skeleton", - "abnormal ear", - "abnormal autopod region morphology", - "bone of free limb or fin", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "autopodial skeleton", - "skeleton of digitopodium", + "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", - "forelimb", - "Acute myeloid leukemia", - "Short digit", - "lateral structure", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", + "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", - "aplasia or hypoplasia of manual digit 1", - "bone marrow cell", + "abnormal limb morphology", "system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Abnormal appendicular skeleton morphology", - "Facial palsy", - "manual digit", - "paralysed anatomical entity", - "phalanx endochondral element", - "pectoral appendage skeleton", - "abnormal manus morphology", - "Abnormality of the musculature", - "abnormal digit", - "head", - "Abnormality of limb bone", - "cranial nerve", - "abnormal phalanx morphology", - "abnormal arm", - "manus", - "abnormal limb", - "skeletal musculature of head", - "organism subdivision", - "Leukemia", - "bone of pectoral complex", + "aplasia or hypoplasia of manual digit 1", "entity", - "subdivision of skeletal system", - "endochondral bone", - "subdivision of skeleton", - "arm", - "Abnormal ear physiology", - "sensory perception of sound", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "decreased qualitatively sensory perception of sound", - "cell", + "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", - "Duplication of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "pectoral complex", - "digit 1 digitopodial skeleton", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "Abnormal digit morphology", "appendicular skeletal system", - "limb skeleton subdivision", - "upper limb segment", - "appendicular skeleton", - "abnormal manual digit morphology in the independent continuant", - "Abnormal hand morphology", - "abnormal limb morphology", - "Abnormality of thumb phalanx", - "decreased length of manual digit", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "primary metabolic process", - "skeleton of manual digitopodium", - "abnormal head", - "skeleton of manual acropodium", - "axial musculature", - "manual digit digitopodial skeleton", - "pectoral appendage", - "autopod endochondral element", - "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of hand bones", - "peripheral nervous system", - "obsolete cell", - "limb long bone", - "forelimb bone", - "Abnormal long bone morphology", - "phalanx of manus", - "manual digit 1 phalanx endochondral element", - "digitopodium bone", - "forelimb long bone", - ], - }, - { - "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.", - "synonym": [ - "FANCV", - "Fanconi Anemia, complementation Group 5", - "Fanconi Anemia, complementation group V", - "Fanconi Anemia, complementation group type V", - "Fanconi anaemia caused by mutation in MAD2L2", - "Fanconi anaemia complementation group type V", - "Fanconi anemia caused by mutation in MAD2L2", - "Fanconi anemia complementation group type V", - "Fanconi anemia, complementation GROUP V", - "MAD2L2 Fanconi anaemia", - "MAD2L2 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001875", - "HP:0000252", - "HP:0001873", - "HP:0005528", - "HP:0006254", - "HP:0003221", - "HP:0001903", - "HP:0004322", - ], - "has_phenotype_label": [ - "Neutropenia", - "Microcephaly", + "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", - "Bone marrow hypocellularity", - "Elevated circulating alpha-fetoprotein concentration", - "Chromosomal breakage induced by crosslinking agents", - "Anemia", - "Short stature", - ], - "has_phenotype_count": 8, - "has_phenotype_closure": [ - "GO:0040007", - "UPHENO:0081424", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0001507", - "UPHENO:0012541", - "HP:0000002", - "HP:0001510", - "HP:0001877", - "CL:0000329", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0010558", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0048519", - "GO:0006139", - "GO:1901360", - "GO:0043170", - "GO:0046483", - "UPHENO:0050845", - "HP:0003220", - "GO:0071840", - "UPHENO:0078606", - "UPHENO:0050113", - "GO:0031052", - "CHEBI:24431", - "UPHENO:0051680", - "HP:0006254", - "UBERON:0010323", - "UPHENO:0086045", - "HP:0000234", - "UPHENO:0088338", - "UPHENO:0087089", - "UPHENO:0087123", - "HP:0000252", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0000541", - "HP:0001874", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "NCBITaxon:2759", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000152", - "UBERON:0000475", - "HP:0000240", - "UBERON:0001434", - "UPHENO:0076805", - "HP:0025461", - "HP:0002060", - "CL:0000988", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "HP:0010987", - "UPHENO:0081435", - "HP:0000924", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0022529", - "UPHENO:0049587", - "UPHENO:0002844", - "UPHENO:0001002", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", - "UBERON:0011676", - "UBERON:0000061", - "UPHENO:0001003", - "GO:0050789", - "UBERON:0013701", - "HP:0001881", - "UPHENO:0085344", - "UPHENO:0063722", - "HP:0001872", - "HP:0032180", - "UPHENO:0075159", - "HP:0100547", - "GO:0071704", - "CL:0000219", - "UBERON:0011137", - "BFO:0000020", - "HP:0011991", - "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", - "CHEBI:33256", - "UBERON:0000062", - "UPHENO:0086019", - "UPHENO:0011498", - "UPHENO:0077822", - "UBERON:0011216", - "UPHENO:0076703", - "UBERON:0002193", - "CL:0001035", - "UPHENO:0085354", - "PR:000018263", - "UPHENO:0076799", - "UBERON:0000481", - "UPHENO:0020584", - "UPHENO:0087518", - "OBI:0100026", - "CL:0000766", - "UPHENO:0084928", - "UPHENO:0088318", - "HP:0000001", - "HP:0011875", - "HP:0430071", - "UPHENO:0085042", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "HP:0012443", - "HP:0032251", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0049700", - "HP:0001911", - "UPHENO:0085405", - "UPHENO:0002764", - "GO:0006807", - "UPHENO:0006910", - "CL:0002242", - "GO:0010556", - "PR:000050567", - "UPHENO:0085076", - "BFO:0000003", - "UPHENO:0085356", - "PATO:0000001", - "UBERON:0034923", - "HP:0040012", - "UPHENO:0086005", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0085118", - "HP:0002715", - "GO:0090304", - "UPHENO:0015280", - "HP:0045056", - "UPHENO:0004523", - "UPHENO:0086176", - "GO:0065007", - "HP:0010974", - "UPHENO:0085070", - "CHEBI:36963", - "HP:0000118", - "UBERON:0000033", - "UBERON:0000178", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0001875", - "UPHENO:0077426", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "UPHENO:0085984", - "CHEBI:51143", - "CL:0000255", - "UPHENO:0085189", - "UPHENO:0051612", - "CL:0000738", - "CL:0000763", - "CL:0000458", - "UPHENO:0088170", - "GO:0044238", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", - "CHEBI:37622", - "HP:0004322", - "UBERON:0003129", - "UPHENO:0086016", - "CL:0000000", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0004120", - "CL:0000094", - "UPHENO:0046362", - "HP:0007364", - "UBERON:0000468", - "HP:0032309", - "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", - "NCBITaxon:33208", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0010314", - "UBERON:0001062", - "UPHENO:0088321", - "CL:0000775", - "UBERON:0000075", - "UBERON:0010912", - "CL:0000225", - "UBERON:0010000", - "UBERON:0002390", - "CHEBI:15841", - "GO:0031326", - "UBERON:0002090", - "CHEBI:23367", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", - "UPHENO:0001005", - "HP:0040195", - "GO:0016043", - "HP:0002011", - "HP:0012145", - "BFO:0000002", - "HP:0012639", - "UPHENO:0051804", - "UBERON:0002204", - "GO:0044237", - "HP:0002977", - "NCBITaxon:131567", - "NCBITaxon:33154", - "GO:0006725", - "UBERON:0001893", - "UPHENO:0080200", - "UBERON:0001890", - "HP:0033127", - "UPHENO:0076702", - "HP:0001903", - "UBERON:0005944", - "UPHENO:0088176", - "UBERON:0034925", - "BFO:0000040", - "HP:0033405", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "UBERON:0007811", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0086173", - "UPHENO:0086049", - "HP:0011017", - "PR:000000001", - "UPHENO:0084987", - "UPHENO:0048707", - "CL:0000232", - "HP:0011873", - "CL:0000151", - "UPHENO:0085302", - "UBERON:0004288", - "UPHENO:0085144", - "HP:0020047", - "CL:0002092", - "CHEBI:33579", - "UPHENO:0051668", - "UPHENO:0087355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "UPHENO:0087339", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0005528", - "UBERON:0002371", - "GO:0006259", - "UBERON:0001474", - "UPHENO:0085195", - "UBERON:0001016", - "CHEBI:36357", - "UPHENO:0077821", - "UBERON:0000463", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:16670", - "HP:0004364", - "HP:0010876", - "UPHENO:0085330", - "GO:0008152", - "UBERON:0002616", - "UPHENO:0048751", - "UPHENO:0046284", - "CHEBI:50860", - "CHEBI:16541", - "UPHENO:0068971", - "CHEBI:33695", - "UBERON:0001017", - "UPHENO:0081547", - "CHEBI:25806", - "CL:0000081", - "CHEBI:35352", - "UPHENO:0085068", - "CHEBI:32988", - "GO:0009987", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0020888", - "UPHENO:0077813", - "GO:0008150", - "CHEBI:33675", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", - "BFO:0000015", - "CHEBI:33694", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0051801", - ], - "has_phenotype_closure_label": [ - "delayed biological_process", - "Short stature", - "decreased height of the anatomical entity", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "abnormality of anatomical entity height", - "delayed growth", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "protein-DNA complex organization", - "regulation of cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", - "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", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal cellular metabolic process", - "obsolete cell", - "abnormal metabolic process", - "cellular process", - "abnormal cellular process", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "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", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "abnormal telencephalon morphology", - "anatomical entity", - "cellular organisms", - "polyatomic entity", - "Abnormality of head or neck", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "regional part of brain", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "Morphological central nervous system abnormality", - "cell", - "neutrophil", - "anterior region of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal role bodily fluid level", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "Chromosome breakage", - "abnormal chromatin organization", - "mesoderm-derived structure", - "macromolecule", - "anatomical system", - "main body axis", - "immune system", - "myeloid cell", - "organonitrogen compound", - "root", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "Abnormal neutrophil count", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal bone marrow morphology", - "quality", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", - "granulocyte", - "abnormal number of anatomical enitites of type myeloid cell", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "nervous system", - "anatomical collection", - "All", - "abnormal skull morphology", - "increased level of protein", - "abnormally decreased number of leukocyte in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "central nervous system", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "material anatomical entity", - "abnormal platelet morphology", - "Abnormal platelet count", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "nucleate cell", - "postcranial axial skeletal system", - "abnormal phenotype by ontology source", - "hematopoietic cell", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "abnormal immune system morphology", - "nitrogen molecular entity", - "chromatin organization", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "amino acid chain", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "organic molecular entity", - "primary amide", - "eukaryotic cell", - "skull", - "abnormal head", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "information biomacromolecule", - "multicellular organism", - "hematopoietic system", - "abnormally decreased number of neutrophil", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal granulocyte morphology", - "anatomical structure", - "regulation of macromolecule biosynthetic process", - "Abnormal circulating metabolite concentration", - "abnormally decreased number of granulocyte", - "structure with developmental contribution from neural crest", - "abnormal neutrophil", - "ectoderm-derived structure", - "abnormally decreased number of hematopoietic cell", - "pnictogen molecular entity", - "Abnormal nervous system morphology", - "abnormally decreased number of cell", - "oxygen molecular entity", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "organic amino compound", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "material entity", - "abnormal alpha-fetoprotein level", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "abnormal DNA metabolic process", - "blood cell", - "chemical entity", - "abnormal myeloid cell morphology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", - "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", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "abnormal size of multicellular organism", - "bone element", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal granulocyte morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "protein-containing molecular entity", - "skeleton", - "bone marrow", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal immune system", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of the head", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "erythrocyte", - "abnormal blood cell", - "organ system subdivision", - "abnormal size of skull", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "organism subdivision", - "decreased size of the anatomical entity", - "blood", - "subdivision of skeleton", - "Opisthokonta", - "telencephalon", - "axial skeletal system", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "postcranial axial skeleton", - "abnormal skeletal system", - "Metazoa", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Eumetazoa", - "Eukaryota", - "abnormal craniocervical region", - "organism", - "Decreased head circumference", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal platelet", - "cellular metabolic process", - "biogenic amine secreting cell", - "abnormal blood chemical entity level", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "bone cell", - "Abnormality of bone marrow cell morphology", - "polypeptide", - "abnormal hematopoietic system morphology", - "Bone marrow hypocellularity", - "skeletal element", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", - "Abnormal circulating alpha-fetoprotein concentration", - "Abnormality of multiple cell lineages in the bone marrow", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "peptide", - "continuant", - "protein polypeptide chain", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "abnormal role independent continuant level", - "abnormal independent continuant protein level", - "chalcogen molecular entity", - "entity", - "subdivision of skeletal system", - "Abnormal circulating protein concentration", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal protein level", - "metabolic process", - "bodily fluid", - "organism substance", - "organ", - "occurrent", - "increased level of alpha-fetoprotein", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "organic substance metabolic process", - "Abnormal cellular physiology", - "increased level of chemical entity", - "head", - "amide", - "platelet", - "organooxygen compound", - "abnormal independent continuant alpha-fetoprotein level", - "p-block molecular entity", - "biomacromolecule", - "Abnormal platelet morphology", - "heteroorganic entity", - "alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating organic amino compound concentration", - "abnormal multicellular organism chemical entity level", - "main group molecular entity", - "negative regulation of cellular biosynthetic process", - ], - }, - { - "id": "MONDO:0011325", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group F", - "xref": ["DOID:0111088", "GARD:15355", "NCIT:C125707", "OMIM:603467"], - "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", - "synonym": [ - "FANCF", - "Fanconi Anemia, complementation group type F", - "Fanconi anaemia complementation group type F", - "Fanconi anemia complementation group F", - "Fanconi anemia complementation group type F", - "Fanconi anemia, complementation group F", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0008551", - "HP:0002984", - "HP:0009777", - "HP:0000750", - "HP:0000960", - "HP:0001882", - "HP:0000252", - "HP:0000957", - "HP:0002247", - "HP:0000028", - "HP:0001631", - "HP:0009778", - "HP:0001873", - "HP:0000125", - "HP:0000405", - "HP:0000824", - "HP:0000568", - "HP:0002090", - "HP:0003221", - "HP:0000076", - "HP:0001643", - "HP:0005528", - "HP:0030260", - "HP:0000953", - "HP:0001328", - "HP:0001903", - "HP:0001508", - "HP:0001195", - "HP:0000089", - "HP:0001233", - "HP:0004322", - "HP:0001511", - "HP:0001561", - "HP:0011419", - ], - "has_phenotype_label": [ - "Microtia", - "Hypoplasia of the radius", - "Absent thumb", - "Delayed speech and language development", - "Sacral dimple", - "Leukopenia", - "Microcephaly", - "Cafe-au-lait spot", - "Duodenal atresia", - "Cryptorchidism", - "Atrial septal defect", - "Short thumb", - "Thrombocytopenia", - "Pelvic kidney", - "Conductive hearing impairment", - "Decreased response to growth hormone stimulation test", - "Microphthalmia", - "Pneumonia", - "Chromosomal breakage induced by crosslinking agents", - "Vesicoureteral reflux", - "Patent ductus arteriosus", - "Bone marrow hypocellularity", - "Microphallus", - "Hyperpigmentation of the skin", - "Specific learning disability", - "Anemia", - "Failure to thrive", - "Single umbilical artery", - "Renal hypoplasia", - "2-3 finger syndactyly", - "Short stature", - "Intrauterine growth retardation", - "Polyhydramnios", - "Placental abruption", - ], - "has_phenotype_count": 34, - "has_phenotype_closure": [ - "UBERON:0003100", - "UPHENO:0005170", - "UBERON:0000173", - "HP:0001561", - "GO:0009790", - "UPHENO:0080393", - "UPHENO:0081436", - "GO:0048856", - "UPHENO:0005642", - "UPHENO:0081424", - "UPHENO:0000543", - "UPHENO:0080351", - "UPHENO:0075159", - "UBERON:5003622", - "UBERON:0006049", - "UPHENO:0078125", - "UPHENO:0078307", - "UPHENO:0078215", - "UPHENO:0076747", - "UPHENO:0078288", - "UPHENO:0075182", - "UPHENO:0081210", - "HP:0001195", - "UBERON:0000478", - "HP:0001159", - "UBERON:0000323", - "HP:0011403", - "UBERON:0002331", - "UPHENO:0075949", - "UBERON:0000922", - "HP:0010881", - "HP:0010948", - "GO:0040007", - "UPHENO:0049874", - "HP:0001507", - "UPHENO:0082794", - "HP:0001508", - "UPHENO:0054299", - "UPHENO:0010795", - "HP:0001877", - "HP:0001328", - "UBERON:0008811", - "HP:0000036", - "HP:0008736", - "UBERON:0000989", - "UPHENO:0050034", - "CL:0001035", - "HP:0012145", - "UPHENO:0087339", - "UPHENO:0087355", - "UBERON:0011695", - "HP:0002597", - "UPHENO:0086797", - "UPHENO:0002678", - "UPHENO:0087018", - "HP:0030962", - "UBERON:0004716", - "UPHENO:0015290", - "UBERON:0004572", - "UBERON:0006876", - "UBERON:0002201", - "HP:0001194", - "UBERON:0003498", - "UBERON:0007798", - "UBERON:0004145", - "UPHENO:0076729", - "UBERON:0000477", - "UBERON:0009856", - "CL:0000232", - "UPHENO:0002806", - "UPHENO:0082878", - "UBERON:0000056", - "HP:0010936", - "HP:0000069", - "UBERON:0036295", - "UBERON:0018707", - "UPHENO:0002437", - "HP:0000076", - "UPHENO:0075852", - "UBERON:0000479", - "HP:0000014", - "GO:0031326", - "GO:0009890", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0009889", - "GO:0031323", - "GO:0090304", - "UPHENO:0050116", - "HP:0003221", - "GO:0005623", - "UPHENO:0049700", - "UPHENO:0000541", - "GO:0010468", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "HP:0000009", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", - "GO:0044238", - "GO:0071704", - "GO:0008152", - "UPHENO:0050113", - "GO:0031052", - "UPHENO:0080693", - "UPHENO:0002827", - "UPHENO:0082723", - "HP:0010978", - "UPHENO:0002448", - "UBERON:0004119", - "UBERON:0000171", - "UBERON:0002048", - "UPHENO:0019970", - "HP:0002090", - "UPHENO:0083263", - "HP:0012647", - "GO:0006952", - "UBERON:0001005", - "UPHENO:0049588", - "HP:0012649", - "HP:0002086", - "UPHENO:0087433", - "UPHENO:0087472", - "UBERON:0001987", - "UBERON:0002371", - "UPHENO:0075997", - "UBERON:0001456", - "HP:0000568", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UPHENO:0087924", - "HP:0100887", - "HP:0000478", - "UBERON:0001004", - "HP:0000315", - "UPHENO:0068843", - "UPHENO:0080209", - "GO:0002790", - "CHEBI:24431", - "GO:0065007", - "UPHENO:0076287", - "GO:0006954", - "UPHENO:0080220", - "HP:0031072", - "UPHENO:0082671", - "UBERON:0006555", - "GO:0030252", - "UPHENO:0076293", - "UBERON:0002530", - "GO:0046903", - "GO:0071705", - "HP:0040075", - "UPHENO:0076286", - "UBERON:0002368", - "UPHENO:0087516", - "UPHENO:0050121", - "HP:0000864", - "UPHENO:0004618", - "UPHENO:0080588", - "UBERON:0010133", - "UBERON:0003296", - "GO:0030072", - "GO:0023052", - "GO:0007267", - "HP:0034058", - "UPHENO:0077873", - "UPHENO:0049647", - "HP:0005528", - "HP:0031071", - "UBERON:0002196", - "GO:0050789", - "HP:0025015", - "UBERON:0000970", - "GO:0007154", - "HP:0000818", - "UPHENO:0075772", - "GO:0009892", - "UPHENO:0087940", - "GO:0010556", - "HP:0012503", - "UPHENO:0074685", - "UPHENO:0076812", - "HP:0004323", - "UPHENO:0005652", - "HP:0003117", - "UPHENO:0059874", - "UBERON:0003937", - "HP:0010662", - "UPHENO:0049724", - "UBERON:0004092", - "HP:0032367", - "UPHENO:0075995", - "UPHENO:0077872", - "GO:0050954", - "HP:0011947", - "GO:0007600", - "HP:0000370", - "UPHENO:0076901", - "UPHENO:0003017", - "HP:0000405", - "GO:0055127", - "GO:0009987", - "HP:0000365", - "GO:0007605", - "UPHENO:0050625", - "GO:0006807", - "HP:0031704", - "UPHENO:0005518", - "UPHENO:0052970", - "UBERON:0034921", - "UPHENO:0076779", - "UBERON:0010260", - "GO:0048523", - "HP:0000079", - "UPHENO:0002910", - "GO:0046879", - "HP:0000125", - "HP:0000086", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0000916", - "UPHENO:0083952", - "UBERON:8450002", - "UPHENO:0002803", - "UBERON:0005172", - "HP:0003241", - "HP:0010935", - "HP:0100542", - "UPHENO:0081320", - "UBERON:0001008", - "UPHENO:0051763", - "HP:0025461", - "UPHENO:0085070", - "HP:0020047", - "CL:0000458", - "UBERON:0019222", - "UPHENO:0085189", - "UPHENO:0086049", - "UPHENO:0085118", - "CL:0000233", - "CL:0000763", - "CL:0000457", - "HP:0011603", - "HP:0009381", - "GO:0050877", - "HP:0011927", - "UPHENO:0046411", - "HP:0009778", - "HP:0030680", - "HP:0005120", - "UPHENO:0033559", - "UPHENO:0075655", - "UPHENO:0004536", - "UPHENO:0015329", - "UPHENO:0074722", - "HP:0011994", - "GO:0031049", - "UBERON:0002075", - "UBERON:0005181", - "UBERON:0000915", - "UBERON:0002085", - "CL:0000151", - "UBERON:0003037", - "UBERON:0005178", - "UBERON:0000948", - "UPHENO:0074804", - "UBERON:0002099", - "UPHENO:0076810", - "UBERON:0001009", - "UBERON:0003103", - "HP:0006101", - "HP:0012638", - "HP:0000708", - "CL:0000329", - "UBERON:0001474", - "UPHENO:0049622", - "GO:0010558", - "NBO:0000313", - "HP:0025634", - "HP:0000824", - "UBERON:0001756", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0011425", - "HP:0040195", - "UPHENO:0019888", - "UPHENO:0002844", - "UBERON:0019231", - "UPHENO:0085144", - "UPHENO:0087006", - "GO:0043170", - "HP:0011961", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "NCBITaxon:2759", - "UPHENO:0021474", - "UBERON:5001463", - "UBERON:5006049", - "UPHENO:0002905", - "UPHENO:0076723", - "UPHENO:0054261", - "NCBITaxon:131567", - "UBERON:0002544", - "UPHENO:0049586", - "UPHENO:0053208", - "UBERON:0019221", - "UBERON:0019232", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0060026", - "UPHENO:0002378", - "UPHENO:0087548", - "GO:1901360", - "UBERON:0004151", - "UBERON:0000061", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", - "UPHENO:0006910", - "UPHENO:0086908", - "UBERON:0005451", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0003513", - "UBERON:0012141", - "HP:0012759", - "UBERON:0002097", - "UBERON:0003135", - "HP:0000001", - "HP:0011297", - "UPHENO:0087186", - "UPHENO:0081435", - "UPHENO:0076724", - "UPHENO:0081451", - "HP:0000077", - "UBERON:0002199", - "UBERON:0002193", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "HP:0006501", - "UPHENO:0087907", - "UBERON:0013768", - "UPHENO:0046505", - "UPHENO:0069254", - "HP:0001233", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0087309", - "UPHENO:0051804", - "HP:0002167", - "UBERON:0008785", - "UPHENO:0085068", - "UBERON:0004708", - "UBERON:0034925", - "GO:0032504", - "HP:0000750", - "UPHENO:0049701", - "HP:0100547", - "HP:0040070", - "UBERON:0010363", - "HP:0002977", - "UBERON:0010708", - "UPHENO:0076765", - "HP:0031073", - "UBERON:0013765", - "UBERON:0002204", - "UBERON:0008001", - "HP:0000271", - "UPHENO:0020041", - "UPHENO:0086863", - "HP:0009601", - "UBERON:0003607", - "UBERON:0001423", - "UBERON:0004456", - "HP:0009826", - "UBERON:0002105", - "UBERON:0002529", - "UBERON:0002513", - "UBERON:0016887", - "UBERON:0011138", - "GO:0022414", - "UPHENO:0076727", - "HP:0011875", - "UPHENO:0086045", - "HP:0002088", - "UPHENO:0084763", - "HP:0009824", - "HP:0001882", - "GO:0003008", - "UBERON:0010538", - "UPHENO:0088186", - "UPHENO:0002901", - "UPHENO:0080352", - "UBERON:0000075", - "UBERON:0002104", - "HP:0006503", - "HP:0008678", - "GO:0006996", - "UBERON:0005179", - "UPHENO:0078278", - "UBERON:0001255", - "UPHENO:0069196", - "GO:0050896", - "UBERON:0011582", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0010763", - "UPHENO:0002833", - "UPHENO:0078179", - "GO:0006810", - "UPHENO:0080585", - "UBERON:0012139", - "UPHENO:0012541", - "UPHENO:0020748", - "UPHENO:0086700", - "UPHENO:0086699", - "HP:0011314", - "UBERON:0002091", - "UPHENO:0020584", - "HP:0034434", - "UPHENO:0059829", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0002880", - "UBERON:0012475", - "UBERON:0010000", - "UBERON:0002390", - "UPHENO:0085344", - "UPHENO:0020950", - "UPHENO:0001003", - "UBERON:0006717", - "HP:0004325", - "UPHENO:0031839", - "HP:0002463", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "HP:0000234", - "UPHENO:0046284", - "UPHENO:0085873", - "UPHENO:0081091", - "HP:0002242", - "UPHENO:0079872", - "GO:0019953", - "UBERON:0005985", - "UPHENO:0075195", - "GO:0032940", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0083648", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0084987", - "UBERON:0011584", - "UBERON:0005423", - "UBERON:0000026", - "HP:0033353", - "UBERON:0002355", - "HP:0000364", - "UBERON:0000179", - "UBERON:0002101", - "UBERON:0002081", - "HP:0045060", - "HP:0031703", - "UPHENO:0049873", - "HP:0008771", - "UBERON:0005440", - "UPHENO:0077887", - "UBERON:0002386", - "UBERON:0003509", - "UBERON:0004573", - "UBERON:0015021", - "UBERON:0005881", - "UBERON:0001062", - "UPHENO:0081095", - "GO:0009914", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0088321", - "UBERON:0002049", - "UBERON:0001016", - "GO:0065008", - "UPHENO:0081204", - "HP:0001197", - "HP:0011446", - "UPHENO:0042775", - "CL:0000408", - "GO:0007283", - "UPHENO:0026506", - "PATO:0000001", - "UPHENO:0080110", - "UBERON:0006048", - "UBERON:5002544", - "UPHENO:0087510", - "UPHENO:0086173", - "UBERON:0015410", - "UBERON:0001690", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0002903", - "UPHENO:0053644", - "UPHENO:0086633", - "GO:0023061", - "UPHENO:0002371", - "HP:0000598", - "UPHENO:0041226", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0010741", - "UBERON:0001894", - "UPHENO:0046540", - "HP:0001560", - "GO:0016043", - "UPHENO:0075902", - "UPHENO:0015280", - "UBERON:0001460", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0002108", - "HP:0000356", - "BFO:0000004", - "UPHENO:0077890", - "UPHENO:0046624", - "UPHENO:0011498", - "UBERON:0004381", - "UBERON:0013702", - "UPHENO:0080187", - "HP:0011844", - "UBERON:0000062", - "GO:0031327", - "HP:0002984", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0087547", - "UBERON:0003834", - "HP:0000118", - "UPHENO:0082129", - "HP:0001511", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0004100", - "BFO:0000003", - "UBERON:5002389", - "PR:000050567", - "UBERON:0011249", - "HP:0000152", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0000033", - "UPHENO:0001002", - "UBERON:0001137", - "UBERON:0000178", - "HP:0009821", - "UBERON:0015204", - "UPHENO:0049927", - "UPHENO:0080126", - "HP:0000119", - "UPHENO:0076799", - "GO:0071702", - "HP:0012210", - "UBERON:0008962", - "UBERON:0001463", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "GO:0032501", - "UBERON:0013701", - "UPHENO:0076730", - "UPHENO:0081119", - "UPHENO:0050108", - "UPHENO:0086735", - "HP:0011452", - "UBERON:0034923", - "UPHENO:0051668", - "UBERON:0004054", - "BFO:0000002", - "HP:0012639", - "UPHENO:0075961", - "HP:0000089", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0050008", - "HP:0006496", - "HP:0002795", - "UBERON:0001434", - "HP:0012252", - "UBERON:0007811", - "UBERON:0001270", - "UBERON:0000020", - "UBERON:0002470", - "GO:0140352", - "UPHENO:0081790", - "HP:0000377", - "UPHENO:0076803", - "UBERON:0000465", - "UBERON:0001130", - "UPHENO:0075933", - "UBERON:0000153", - "UPHENO:0086589", - "UPHENO:0076791", - "GO:0043933", - "UPHENO:0002896", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000073", - "UBERON:0010703", - "UBERON:0000955", - "GO:0034641", - "HP:0000929", - "UBERON:0007272", - "UBERON:8600018", - "UPHENO:0087802", - "UPHENO:0012274", - "HP:0001872", - "UPHENO:0084761", - "UBERON:5006048", - "UBERON:0003133", - "UPHENO:0086956", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001167", - "UPHENO:0080111", - "HP:0040064", - "UBERON:0002428", - "HP:0001903", - "UPHENO:0003116", - "UPHENO:0004459", - "UPHENO:0054957", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0081792", - "HP:0012130", - "UPHENO:0033603", - "CL:0000300", - "UPHENO:0005597", - "GO:0007610", - "HP:0005922", - "UPHENO:0015303", - "UPHENO:0052178", - "HP:0008551", - "UPHENO:0086771", - "UPHENO:0026183", - "UPHENO:0084771", - "UPHENO:0081313", - "UPHENO:0069110", - "UPHENO:0002263", - "UPHENO:0019890", - "GO:0006725", - "UPHENO:0087501", - "HP:0005927", - "UBERON:0003101", - "UBERON:0004120", - "UBERON:0001440", - "HP:0000027", - "UPHENO:0069294", - "HP:0011121", - "HP:0034057", - "UPHENO:0078606", - "HP:0006265", - "GO:0042886", - "HP:0040072", - "UBERON:0010912", - "UPHENO:0085302", - "UPHENO:0084928", - "UPHENO:0026028", - "UPHENO:0063565", - "HP:0005773", - "HP:0011873", - "UBERON:0004375", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UBERON:0001555", - "UPHENO:0087846", - "GO:0008150", - "UPHENO:0020888", - "UPHENO:0002433", - "HP:0011747", - "UPHENO:0049587", - "BFO:0000015", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0005431", - "UPHENO:0086172", - "UPHENO:0076739", - "UPHENO:0080079", - "HP:0007364", - "BFO:0000001", - "UPHENO:0002635", - "UPHENO:0002751", - "UBERON:0002495", - "UBERON:0004535", - "HP:0005107", - "HP:0010767", - "UPHENO:0003020", - "UBERON:0005944", - "UBERON:0000991", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002416", - "CL:0000764", - "UPHENO:0087089", - "UPHENO:0083951", - "UPHENO:0087374", - "CL:0000039", - "UBERON:0002102", - "UPHENO:0003811", - "CL:0000225", - "HP:0000925", - "GO:0006950", - "UPHENO:0015324", - "HP:0001643", - "UBERON:0004571", - "UBERON:0000065", - "HP:0000830", - "UBERON:0012140", - "UBERON:0005473", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:0011137", - "UPHENO:0033572", - "HP:0009815", - "HP:0002246", - "UBERON:0006077", - "UPHENO:0078159", - "UPHENO:0049584", - "HP:0025033", - "GO:0048232", - "UBERON:0003828", - "CL:0000988", - "HP:0012372", - "HP:0002060", - "GO:0060255", - "UBERON:0006075", - "UBERON:0001981", - "UPHENO:0082875", - "HP:0011355", - "GO:0050794", - "UPHENO:0085875", - "HP:0010781", - "UPHENO:0076695", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002813", - "GO:0007275", - "HP:0000924", - "UBERON:0004121", - "UBERON:0004247", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0005173", - "UPHENO:0086857", - "UBERON:0003463", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0001556", - "HP:0001574", - "UBERON:0005174", - "UBERON:0011216", - "HP:0011024", - "UBERON:0004175", - "UPHENO:0087334", - "UBERON:0005177", - "HP:0009121", - "HP:0011100", - "UPHENO:0049990", - "UPHENO:0020659", - "RO:0002577", - "HP:0000951", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0085984", - "HP:0002715", - "HP:0030260", - "GO:0051234", - "UPHENO:0085371", - "CL:0000000", - "UPHENO:0050101", - "UPHENO:0088338", - "UPHENO:0078743", - "UPHENO:0076703", - "UPHENO:0085330", - "HP:0010460", - "UPHENO:0035025", - "UPHENO:0079876", - "UBERON:0001007", - "UPHENO:0078327", - "UPHENO:0087123", - "UBERON:0018674", - "UPHENO:0088319", - "UPHENO:0075872", - "GO:0010605", - "UPHENO:0035147", - "UBERON:0000474", - "HP:0025354", - "CL:0000255", - "UPHENO:0005986", - "CL:0002242", - "UPHENO:0087643", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0063722", - "UPHENO:0087376", - "HP:0001881", - "UPHENO:0078081", - "GO:0015833", - "UPHENO:0076735", - "UBERON:0006314", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "UPHENO:0085195", - "UPHENO:0063629", - "UPHENO:0086635", - "HP:0000812", - "HP:0000240", - "UPHENO:0081628", - "UPHENO:0086855", - "UBERON:0001691", - "UPHENO:0075220", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", - "UBERON:0000055", - "UPHENO:0083689", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0069391", - "UBERON:0001017", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "HP:0012443", - "UBERON:0002616", - "HP:0000050", - "UPHENO:0054970", - "HP:0012758", - "HP:0002011", - "UPHENO:0046707", - "UPHENO:0074575", - "UBERON:0000170", - "UPHENO:0076805", - "UPHENO:0080200", - "UBERON:0001890", - "UPHENO:0002476", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000475", - "UPHENO:0076702", - "UPHENO:0076776", - "NCBITaxon:6072", - "UBERON:0000007", - "UPHENO:0080221", - "HP:0001034", - "UPHENO:0085410", - "HP:0001631", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0000481", - "HP:0000957", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0076684", - "UPHENO:0074589", - "UBERON:0003460", - "HP:0012733", - "GO:0010817", - "GO:0043473", - "UBERON:0004537", - "CL:0000081", - "UBERON:0000064", - "UBERON:0013522", - "HP:0002664", - "UPHENO:0063569", - "HP:0002589", - "UPHENO:0076783", - "HP:0011793", - "UPHENO:0003058", - "UBERON:0004088", - "UBERON:0000025", - "UBERON:0002090", - "HP:0002247", - "UBERON:0000072", - "UPHENO:0080362", - "GO:0006325", - "UPHENO:0063639", - "UPHENO:0053580", - "UPHENO:0081594", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "UBERON:0002114", - "UPHENO:0082761", - "CL:0000738", - "UBERON:0000160", - "UPHENO:0087427", - "UPHENO:0002808", - "HP:0025031", - "HP:0010461", - "UPHENO:0086621", - "HP:0001671", - "HP:0003026", - "CL:0000019", - "UPHENO:0081423", - "UBERON:0005409", - "UPHENO:0052231", - "HP:0000028", - "UPHENO:0069523", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0088337", - "HP:0002244", - "UBERON:0001558", - "UPHENO:0086201", - "UPHENO:0076289", - "UBERON:0010712", - "HP:0000080", - "GO:0048519", - "UBERON:0006058", - "HP:0008772", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0078267", - "HP:0001000", - "UPHENO:0080382", - "GO:0048609", - "HP:0011419", - "GO:0051179", - "GO:0003006", - "UBERON:0003622", - "UBERON:0002471", - "UPHENO:0081755", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "UPHENO:0081547", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0000960", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015228", - "UPHENO:0002830", - "UBERON:0004288", - "CL:0000015", - "UPHENO:0002764", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0004176", - "HP:0008669", - "UBERON:0002405", - "UBERON:0003606", - "UPHENO:0021561", - "UPHENO:0086198", - "UPHENO:0077889", - "UPHENO:0079826", - "UPHENO:0002595", - "UBERON:0004122", - "UPHENO:0049940", - "CL:0000413", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0003690", - "HP:0000078", - "HP:0100767", - "UBERON:0001968", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "HP:0001626", - ], - "has_phenotype_closure_label": [ - "female organism", - "abnormal female reproductive system", - "Intrauterine growth retardation", - "multicellular organism development", - "delayed biological_process", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormally fused anatomical entity and anatomical entity", - "abnormally fused digit and digit", - "Abnormal 2nd finger morphology", - "digit 2", - "abnormally fused digit and anatomical entity", - "digit 2 plus metapodial segment", - "abnormally fused manual digit 2 and manual digit 3", - "abnormally fused anatomical entity and digit", - "Syndactyly", - "manual digit 2", - "abnormal manual digit 2 morphology", - "Renal hypoplasia", - "decreased size of the kidney", - "decreased embryo development", - "abnormal umbilical blood vessel morphology", - "Fetal ultrasound soft marker", - "entire extraembryonic component", - "Abnormality of the umbilical cord", - "Single umbilical artery", - "developing anatomical structure", - "abnormal late embryo", - "abnormal growth", - "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormality of anatomical entity mass", - "erythroid lineage cell", - "erythrocyte", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "abnormal penis morphology", - "Hypoplasia of penis", - "External genital hypoplasia", - "Abnormal penis morphology", - "decreased size of the penis", - "anatomical structure development", - "Hypoplastic male external genitalia", - "tissue", - "Bone marrow hypocellularity", - "abnormal hematopoietic system morphology", - "Abnormality of bone marrow cell morphology", - "bone cell", - "conceptus", - "Abnormal blood vessel morphology", - "blood vasculature", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "heart vasculature", - "thoracic segment blood vessel", - "blood vessel", - "outflow tract", - "Congenital malformation of the great arteries", - "trunk blood vessel", - "abnormal artery morphology in the independent continuant", - "coronary vessel", - "abnormal incomplete closing of the ductus arteriosus", - "vascular system", - "abnormal systemic artery morphology", - "systemic artery", - "Abnormality of the lower urinary tract", - "Functional abnormality of the bladder", - "decreased size of the external male genitalia", - "Abnormal ureter physiology", - "abnormal embryo development", - "Microphallus", - "renal pelvis/ureter", - "bladder organ", - "Abnormality of the amniotic fluid", - "urinary bladder", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "abnormal lower urinary tract", - "ureter", - "sac", - "Abnormality of the ureter", - "abnormal penis", - "abnormality of ureter physiology", - "abnormal primary metabolic process", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "protein-containing complex organization", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Abnormality of chromosome stability", - "Abnormal cellular physiology", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal DNA metabolic process", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Failure to thrive", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "Placental abruption", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "abnormal vascular system morphology", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "Pneumonia", - "increased inflammatory response in independent continuant", - "Abnormality of immune system physiology", - "abnormal blood vessel morphology", - "lung", - "decreased growth", - "increased qualitatively inflammatory response", - "respiratory airway", - "Abnormal respiratory system physiology", - "abnormal lung morphology", - "abnormal response to stress", - "Abnormality of prenatal development or birth", - "increased inflammatory response", - "proximo-distal subdivision of respiratory tract", - "abnormal respiratory system", - "Increased inflammatory response", - "Abnormality of the respiratory system", - "abnormality of respiratory system physiology", - "abnormal bone marrow morphology", - "lower respiratory tract", - "response to stress", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "Abnormality of the face", - "simple eye", - "Abnormality of the eye", - "abnormal face", - "camera-type eye", - "orbital region", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "visual system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of the vasculature", - "abnormal growth hormone secretion", - "abnormal biological_process in nervous system", - "abnormal multicellular organism chemical entity level", - "peptide secretion", - "external male genitalia hypoplasia", - "peptide transport", - "chemical entity", - "Abnormal endocrine physiology", - "secretion", - "increased qualitatively response to stimulus", - "signal release", - "regulation of biological process", - "cell communication", - "vasculature of organ", - "Abnormal circulating hormone concentration", - "abnormal secretion in independent continuant", - "Abnormal growth hormone level", - "abnormal inflammatory response", - "neuroendocrine gland", - "lower urinary tract", - "Hypopituitarism", - "decreased secretion in independent continuant", - "regulation of biological quality", - "Abnormal pituitary gland morphology", - "glandular system", - "abnormal independent continuant chemical entity level", - "abnormal pituitary gland morphology", - "gland", - "female reproductive system", - "gland of diencephalon", - "pituitary gland", - "adenohypophysis", - "abnormal blood chemical entity level", - "Abnormality of the diencephalon", - "abnormal role independent continuant level", - "abnormal diencephalon morphology", - "localization", - "cellular process", - "abnormal endocrine gland morphology", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal diencephalon", - "abnormal urinary bladder", - "regulation of hormone levels", - "transport", - "Decreased response to growth hormone stimulation test", - "decreased biological_process in brain", - "abnormal secretion by cell", - "abnormal hypothalamus-pituitary axis", - "neuroendocrine system", - "peptide hormone secretion", - "Anterior hypopituitarism", - "abnormal hormone blood level", - "abnormal localization", - "Abnormality of metabolism/homeostasis", - "abnormal chemical entity level", - "abnormal transport", - "abnormal middle ear", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormality of middle ear physiology", - "nucleic acid metabolic process", - "abnormal sensory perception of sound", - "Hearing abnormality", - "obsolete nitrogen compound metabolic process", - "Abnormal ear physiology", - "abnormality of urinary bladder physiology", - "Abnormality of the middle ear", - "decreased vibrational conductance of sound to the inner ear", - "multi organ part structure", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "sensory perception of sound", - "system process", - "vibrational conductance of sound to the inner ear", - "Pelvic kidney", - "excretory tube", - "abnormal kidney morphology", - "Ectopic kidney", - "abnormal renal system", - "abdomen element", - "Abnormality of the kidney", - "Abnormal localization of kidney", - "Abnormality of the upper urinary tract", - "renal system", - "excretory system", - "organic substance transport", - "Abnormal platelet count", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "abnormal placenta", - "Abnormal cell morphology", - "abnormal hematopoietic cell morphology", - "abnormally decreased number of myeloid cell", - "great vessel of heart", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "Abnormal myeloid cell morphology", - "embryo", - "abnormal blood cell", - "abnormal cellular process", - "secretory cell", - "decreased length of manual digit", - "Short digit", - "Short finger", - "Short thumb", - "Abnormality of cardiovascular system morphology", - "vasculature of trunk", - "heart plus pericardium", - "interatrial septum", - "abnormal biological_process in central nervous system", - "primary circulatory organ", - "thoracic cavity element", - "eye", - "Functional abnormality of the middle ear", - "compound organ", - "cardiovascular system", - "abnormal cardiac atrium morphology", - "Abnormality of speech or vocalization", - "skeleton of pectoral complex", - "axial skeleton plus cranial skeleton", - "Growth delay", - "kidney", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormality of anatomical entity physiology", - "abnormally fused manual digit and manual digit", - "anatomical entity atresia", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "abnormality of nervous system physiology", - "response to stimulus", - "sperm", - "Delayed speech and language development", - "Abnormality of limbs", - "Atypical behavior", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "biological_process", - "secretion by cell", - "abnormal nervous system", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "digit 1 or 5", - "abnormal interatrial septum morphology", - "abnormal digit", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "abnormal blood cell morphology", - "pectoral appendage skeleton", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "umbilical cord", - "autopodial skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "haemolymphatic fluid", - "digit plus metapodial segment", - "abnormal digit morphology", - "abnormal manus", - "digit", - "Hyperpigmentation of the skin", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal ureter", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "nitrogen compound transport", - "aplastic anatomical entity", - "decreased length of manual digit 1", - "anterior region of body", - "Absent thumb", - "abnormal ear", - "increased qualitatively inflammatory response in independent continuant", - "abnormal autopod region morphology", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "Sacrococcygeal pilonidal abnormality", - "decreased size of the external ear", - "Language impairment", - "agenesis of anatomical entity", - "abnormal role blood level", - "Conductive hearing impairment", - "abnormal anatomical entity morphology in the manus", - "acropodium region", - "skeleton of manus", - "abnormal platelet morphology", - "digit 1", - "Vesicoureteral reflux", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "Abnormal cardiac septum morphology", - "subdivision of skeleton", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Decreased body weight", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "pair of lungs", - "zeugopod", - "skeletal element", - "subdivision of head", - "appendage girdle complex", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "appendicular skeleton", - "upper limb segment", - "anucleate cell", - "cardiac septum", - "pectoral complex", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "abnormal forelimb zeugopod bone", - "limb", - "Finger syndactyly", - "cell", - "Anemia", - "Abnormality of the hand", - "radius bone", - "arm", - "subdivision of skeletal system", - "entity", - "Abnormal vascular morphology", - "abnormal arm", - "head", - "Forearm undergrowth", - "Abnormal appendicular skeleton morphology", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "behavior", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "organ system subdivision", - "aplasia or hypoplasia of manual digit 1", - "system", - "appendicular skeletal system", - "anatomical system", - "arterial system", - "abnormal sensory perception", - "aplasia or hypoplasia of ear", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Respiratory tract infection", - "absent digit", - "inflammatory response", - "phenotype", - "skeletal system", - "Abnormal endocrine morphology", - "motile cell", - "abnormal cellular metabolic process", - "musculoskeletal system", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "platelet", - "absent sperm in the independent continuant", - "pelvic region element", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", - "Thrombocytopenia", - "multicellular organism", - "hematopoietic system", - "endoderm-derived structure", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "embryo development", - "diencephalon", - "abnormal radius bone morphology", - "Hypoplasia of the radius", - "paired limb/fin", - "Aplasia/hypoplasia involving the skeleton", - "abnormal umbilical cord", - "structure with developmental contribution from neural crest", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "ectoderm-derived structure", - "multi-limb segment region", - "abnormal endocrine system morphology", - "sensory system", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "external ear hypoplasia", - "vessel", - "lateral structure", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "increased biological_process in lung", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "abnormal head morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "abnormal limb bone morphology", - "abnormally fused manual digit and anatomical entity", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "craniocervical region", - "biogenic amine secreting cell", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "blood", - "abnormal pigmentation in independent continuant", - "multicellular organismal reproductive process", - "abnormal head", - "systemic arterial system", - "entire sense organ system", - "continuant", - "hormone secretion", - "endocrine system", - "forelimb skeleton", - "decreased qualitatively reproductive process", - "genitourinary system", - "Microtia", - "phenotype by ontology source", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "bone marrow", - "Abnormal cardiac atrium morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "abnormality of endocrine system physiology", - "non-connected functional system", - "embryonic cardiovascular system", - "organism subdivision", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively biological_process in independent continuant", - "Neoplasm", - "Abnormal intestine morphology", - "protein-DNA complex organization", - "vestibulo-auditory system", - "hematopoietic cell", - "behavior process", - "abnormal upper urinary tract", - "Limb undergrowth", - "decreased secretion in pituitary gland", - "Aplasia/Hypoplasia of the thumb", - "Abnormal communication", - "abnormality of ear physiology", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "All", - "anatomical collection", - "increased qualitatively biological_process", - "manus", - "negative regulation of cellular process", - "abnormal limb", - "abnormally fused manual digit 2 and anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "small intestine", - "main body axis", - "arterial blood vessel", - "decreased spermatogenesis", - "decreased size of the anatomical entity in the independent continuant", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "abnormal ear morphology", - "umbilical blood vessel", - "abnormal heart morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "thoracic segment organ", - "Neurodevelopmental abnormality", - "regulation of gene expression", - "respiratory system", - "pectoral appendage", - "subdivision of organism along appendicular axis", - "establishment of localization", - "cell-cell signaling", - "Abnormal male reproductive system physiology", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "abnormal reproductive system morphology", - "decreased qualitatively growth", - "Abnormal inflammatory response", - "abnormally decreased number of hematopoietic cell", - "abnormal phenotype by ontology source", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "body proper", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "material anatomical entity", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Patent ductus arteriosus", - "Abnormal pinna morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal bone of pectoral complex morphology", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "absent anatomical entity in the limb", - "Abnormal long bone morphology", - "absent sperm in the semen", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "Microphthalmia", - "abnormal external ear morphology", - "postcranial axial skeleton", - "decreased qualitatively developmental process", - "forelimb zeugopod bone hypoplasia", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod", - "abnormal testis morphology", - "abnormal size of anatomical entity", - "Abnormal renal morphology", - "abnormal external genitalia", - "respiration organ", - "Sacral dimple", - "segment of autopod", - "Abnormal fetal morphology", - "abnormal intestine morphology", - "independent continuant", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "decreased length of anatomical entity in independent continuant", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "forelimb bone", - "anatomical entity hypoplasia", - "appendage", - "root", - "internal genitalia", - "abnormal behavior", - "radius endochondral element", - "Aplasia/Hypoplasia of the ear", - "Azoospermia", - "mesoderm-derived structure", - "skeleton", - "male gamete generation", - "abnormal neuroendocrine gland morphology", - "endochondral element", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "Polyhydramnios", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal gamete generation", - "leukocyte", - "abnormally decreased number of anatomical entity in the blood", - "ear", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "paired limb/fin skeleton", - "Short forearm", - "subdivision of digestive tract", - "penis hypoplasia", - "limb endochondral element", - "abnormal amniotic fluid", - "zeugopodial skeleton", - "limb long bone", - "eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "bone of appendage girdle complex", - "serotonin secreting cell", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "Abnormality of limb bone morphology", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "reproductive system", - "sacral region", - "Abnormal testis morphology", - "abnormal integument", - "abnormal role bodily fluid level", - "dorsum", - "testis", - "Skin dimple", - "abnormal fused sacrum morphology", - "2-3 finger syndactyly", - "biological regulation", - "abdominal segment of trunk", - "bone of dorsum", - "abdominal segment element", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ductus arteriosus", - "abnormal opening of the anatomical entity", - "dorsal region element", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "macromolecule metabolic process", - "pelvic region of trunk", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of the integument", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "face", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "manual digit 2, 3 or 4", - "Fetal anomaly", - "Abnormality of skin morphology", - "integumental system", - "abnormal gland morphology", - "middle ear", - "integument", - "abnormal craniocervical region", - "sacral region of vertebral column", - "organism", - "irregular bone", - "fused sacrum", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "bony pelvis", - "Growth abnormality", - "abnormal adenohypophysis", - "axial skeletal system", - "reproductive gland", - "abnormal skull morphology", - "Short long bone", - "reproductive organ", - "decreased developmental process", - "absent manual digit", - "subdivision of vertebral column", - "Abnormality of the gastrointestinal tract", - "vertebral column", - "abnormally fused anatomical entity and manual digit 3", - "telencephalon", - "bone element hypoplasia in independent continuant", - "germ line cell", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "Leukopenia", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal hematopoietic system", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "heart blood vessel", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "eukaryotic cell", - "hemolymphoid system", - "increased inflammatory response in lung", - "nucleate cell", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "Abnormal upper limb bone morphology", - "skin of body", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "external genitalia", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal immune system", - "abnormally decreased number of cell", - "abnormal cardiac septum morphology", - "organism substance", - "immune system", - "nucleobase-containing compound metabolic process", - "abnormally decreased number of leukocyte in the blood", - "cavitated compound organ", - "Abnormal leukocyte count", - "intestine", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "hormone transport", - "abnormal number of anatomical enitites of type platelet", - "abnormal brain morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "forelimb", - "Abnormal forebrain morphology", - "bodily fluid", - "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal skull morphology", - "regional part of nervous system", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "abnormal duodenum morphology", - "hypothalamus-pituitary axis", - "signaling", - "abnormal anatomical entity morphology in the heart", - "Abnormality of limb bone", - "central nervous system", - "regional part of brain", - "vasculature", - "duodenum atresia", - "external ear", - "abnormal telencephalon morphology", - "Abnormalities of placenta or umbilical cord", - "amide transport", - "forelimb long bone", - "abnormal size of skull", - "Eumetazoa", - "Abnormal umbilical cord blood vessel morphology", - "negative regulation of cellular metabolic process", - "Eukaryota", - "abnormal central nervous system morphology", - "abnormal forebrain morphology", - "abnormal nervous system morphology", - "forebrain", - "blood cell", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "decreased biological_process in pituitary gland", - "endocrine gland", - "cranial skeletal system", - "Decreased head circumference", - "Cafe-au-lait spot", - "Hypermelanotic macule", - "late embryo", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "reproduction", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "manual digit 2 plus metapodial segment", - "reproductive structure", - "changed biological_process rate", - "increased biological_process in skin of body", - "Abnormal response to endocrine stimulation test", - "absent germ cell", - "abnormal external ear", - "increased biological_process", - "digit 2, 3 or 4", - "Specific learning disability", - "Abnormality of the anterior pituitary", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal appendicular skeleton morphology", - "male organism", - "Irregular hyperpigmentation", - "increased pigmentation in independent continuant", - "placenta", - "organic substance metabolic process", - "heart", - "Abnormality of the head", - "abnormal pigmentation", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal duodenum morphology", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "organ part", - "defense response", - "subdivision of tube", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "Duodenal atresia", - "Neoplasm by anatomical site", - "respiratory tract", - "alimentary part of gastrointestinal system atresia", - "arm bone", - "Intestinal atresia", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "penis", - "digestive system element", - "abnormal alimentary part of gastrointestinal system", - "Morphological abnormality of the gastrointestinal tract", - "Abnormality of body height", - "tube", - "abnormal hormone independent continuant level", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "duodenum", - "intestine atresia", - "Abnormal placenta morphology", - "digestive tract", - "Abnormal small intestine morphology", - "abnormal digestive system", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", - "limb segment", - "absent sperm", - "Abnormal lung morphology", - "cellular organisms", - "obsolete multicellular organism reproduction", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "extraembryonic structure", - "gamete", - "Abnormality of reproductive system physiology", - "artery", - "germ cell", - "abnormal internal genitalia", - "Abnormality of the genital system", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "Abnormal fetal cardiovascular morphology", - "Cryptorchidism", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "changed biological_process rate in brain", - "haploid cell", - "Abnormality of the outer ear", - "abnormal gamete", - "abnormal male reproductive system", - "semen", - "Abnormal external genitalia", - "abnormally localised anatomical entity in independent continuant", - "male gamete", - "male germ cell", - "Abnormal respiratory system morphology", - "upper urinary tract", - "decreased length of digit", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", - "male reproductive system", - "abnormal number of anatomical enitites of type sperm", - "manual digit", - "abnormal multicellular organismal reproductive process", - "anatomical entity", - "decreased qualitatively biological_process", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "internal male genitalia", - "growth hormone secretion", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "absent gamete", - "abnormally localised anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "sexual reproduction", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Non-obstructive azoospermia", - "reproductive process", - "negative regulation of metabolic process", - "decreased growth hormone secretion", - "manual digit 1 or 5", - "abdominal segment bone", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "amniotic fluid", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "cardiac atrium", - "abnormal incomplete closing of the interatrial septum", - "export from cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "viscus", - "circulatory organ", - "bone marrow cell", - "circulatory system", - "paired limb/fin segment", - "septum", - "Abnormality of the bladder", - "abnormality of reproductive system physiology", - "Abnormal heart morphology", - ], - }, - { - "id": "MONDO:0044325", - "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", - "xref": ["OMIM:617784", "UMLS:C4521564"], - "provided_by": "phenio_nodes", - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002984", - "HP:0009777", - "HP:0000252", - "HP:0002247", - "HP:0002863", - "HP:0001510", - "HP:0002119", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Microcephaly", - "Duodenal atresia", - "Myelodysplasia", - "Growth delay", - "Ventriculomegaly", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology", - ], - "has_phenotype_count": 16, - "has_phenotype_closure": [ - "UPHENO:0076779", - "HP:0000079", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0075182", - "HP:0008678", - "HP:0010935", - "UPHENO:0081210", - "UBERON:0003103", - "HP:0000077", - "UBERON:0001008", - "UPHENO:0081786", - "HP:0000089", - "UBERON:0001444", - "HP:0011800", - "UPHENO:0087472", - "UBERON:0001456", - "UBERON:0004089", - "UPHENO:0081227", - "UBERON:0000064", - "UPHENO:0002764", - "HP:0009121", - "HP:0011100", - "NCBITaxon:131567", - "UPHENO:0076723", - "UBERON:0004092", - "HP:0012639", - "BFO:0000002", - "UBERON:0002028", - "HP:0002011", - "UBERON:0006558", - "GO:0071705", - "HP:0040195", - "UBERON:0000073", - "HP:0000929", - "RO:0002577", - "UPHENO:0076805", - "UBERON:0011138", - "UBERON:0002513", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33208", - "UPHENO:0076692", - "NCBITaxon:1", - "UPHENO:0087907", - "HP:0006501", - "HP:0000152", - "UBERON:0019261", - "UPHENO:0080325", - "UBERON:0015203", - "NCBITaxon:2759", - "UBERON:5001463", - "UPHENO:0086932", - "UPHENO:0002905", - "UPHENO:0004618", - "UBERON:0002544", - "UBERON:0002437", - "UPHENO:0086700", - "UBERON:0007811", - "UPHENO:0026506", - "UBERON:0013701", - "GO:0032501", - "HP:0002977", - "UBERON:0010363", - "UBERON:0002037", - "UBERON:0000467", - "UPHENO:0071344", - "UPHENO:0056072", - "HP:0000234", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UBERON:0000061", - "UPHENO:0008523", - "UPHENO:0087518", - "UPHENO:0006910", - "UBERON:0002368", - "UPHENO:0080099", - "UBERON:0005451", - "UBERON:0012141", - "UBERON:0001442", - "HP:0000001", - "UBERON:0002465", - "UPHENO:0081435", - "GO:0051234", - "PATO:0000001", - "UPHENO:0020888", - "GO:0008150", - "HP:0011283", - "UBERON:0000465", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002193", - "UBERON:0002101", - "HP:0002060", - "UPHENO:0076718", - "UBERON:0001895", - "UBERON:0004710", - "UPHENO:0084448", - "BFO:0000004", - "UPHENO:0075195", - "HP:0000119", - "UPHENO:0076799", - "UBERON:0000481", - "UBERON:0000075", - "HP:0002246", - "HP:0009815", - "HP:0009601", - "UBERON:0003607", - "GO:0023052", - "HP:0045060", - "UPHENO:0087902", - "HP:0005922", - "UPHENO:0026183", - "UPHENO:0084771", - "UPHENO:0086771", - "HP:0005927", - "HP:0002984", - "UPHENO:0081313", - "UBERON:0001434", - "HP:0006496", - "UPHENO:0074037", - "UBERON:0006717", - "UPHENO:0001003", - "UBERON:0008785", - "UBERON:0000033", - "UBERON:0000178", - "HP:0009821", - "HP:0000118", - "HP:0031073", - "UBERON:0013765", - "HP:0002119", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0087940", - "HP:0002817", - "UPHENO:0001001", - "UBERON:0002428", - "UBERON:0010740", - "UPHENO:0081792", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "UBERON:0010708", - "HP:0011297", - "UPHENO:0076957", - "UBERON:0003129", - "UBERON:0015061", - "UPHENO:0002833", - "UBERON:0005881", - "UBERON:0001062", - "UBERON:0004120", - "HP:0002500", - "HP:0040064", - "HP:0001167", - "UPHENO:0022529", - "UBERON:0010707", - "HP:0012443", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002616", - "UPHENO:0076790", - "UBERON:0015021", - "HP:0010662", - "UBERON:0004765", - "HP:0031689", - "HP:0006503", - "UPHENO:0020013", - "UBERON:5002389", - "UPHENO:0075995", - "PR:000050567", - "UBERON:0010741", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "GO:0009987", - "UBERON:0001017", - "UPHENO:0081547", - "UBERON:0002049", - "UBERON:0001016", - "UBERON:0011137", - "UBERON:0004111", - "UPHENO:0080377", - "UPHENO:0076740", - "UBERON:0007272", - "UPHENO:0031839", - "HP:0410049", - "UBERON:0005944", - "UBERON:0034925", - "HP:0002308", - "UPHENO:0084761", - "UBERON:5006048", - "UBERON:0003133", - "HP:0003026", - "UBERON:0004708", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0002910", - "GO:0046879", - "HP:0100547", - "UPHENO:0084763", - "HP:0000707", - "UPHENO:0081204", - "GO:0065008", - "UPHENO:0086172", - "UBERON:0000062", - "UPHENO:0078743", - "UPHENO:0076703", - "UBERON:0010133", - "UPHENO:0002678", - "UBERON:8450002", - "UPHENO:0083952", - "HP:0005561", - "BFO:0000040", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0049724", - "BFO:0000001", - "UPHENO:0080187", - "UBERON:0013702", - "HP:0002818", - "HP:0002813", - "UBERON:0007798", - "UBERON:0006058", - "UBERON:0002102", - "UPHENO:0076702", - "UBERON:0000475", - "UPHENO:0086633", - "HP:0000830", - "UBERON:0012140", - "HP:0001172", - "UBERON:0011676", - "HP:0002973", - "UPHENO:0002803", - "UBERON:0005172", - "UBERON:0010314", - "GO:0009914", - "UPHENO:0050034", - "CL:0001035", - "UPHENO:0087501", - "UBERON:0000060", - "UBERON:0002075", - "HP:0000864", - "UPHENO:0069294", - "HP:0012143", - "UBERON:0012139", - "HP:0002352", - "UPHENO:0012541", - "UPHENO:0087089", - "HP:0033127", - "GO:0042886", - "HP:0040072", - "UBERON:0010912", - "UPHENO:0084928", - "UPHENO:0026028", - "UPHENO:0063565", - "UBERON:0011582", - "UPHENO:0052178", - "UPHENO:0012274", - "HP:0011314", - "UBERON:0001893", - "HP:0005773", - "HP:0000309", - "UBERON:0004375", - "UBERON:0003296", - "GO:0023061", - "UPHENO:0002844", - "UBERON:0019231", - "UPHENO:0001002", - "UBERON:0003460", - "UBERON:0000026", - "UBERON:0004923", - "UBERON:0011584", - "UBERON:0003606", - "UBERON:0002405", - "UBERON:0000179", - "UPHENO:0075902", - "UPHENO:0015280", - "UPHENO:0059874", - "UBERON:0000477", - "UPHENO:0081790", - "GO:0140352", - "UBERON:0012354", - "UPHENO:0081566", - "BFO:0000020", - "UBERON:0001555", - "UPHENO:0059829", - "UPHENO:0076727", - "UBERON:0001423", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0002108", - "UBERON:0001460", - "GO:0040007", - "HP:0009826", - "UPHENO:0002642", - "HP:0001748", - "UPHENO:0076293", - "UBERON:0002529", - "UBERON:0002091", - "CL:0000556", - "UPHENO:0020584", - "UBERON:0010538", - "HP:0009824", - "HP:0000252", - "UPHENO:0002880", - "UBERON:0012475", - "UBERON:0010000", - "UBERON:0002390", - "HP:0003117", - "HP:0000271", - "UPHENO:0020041", - "UPHENO:0049647", - "UPHENO:0087585", - "UPHENO:0079872", - "UPHENO:0081091", - "HP:0002242", - "UBERON:0001474", - "UBERON:0002100", - "UPHENO:0082875", - "UPHENO:0076720", - "UBERON:0017672", - "UBERON:0001440", - "UPHENO:0002832", - "GO:0032502", - "UPHENO:0077873", - "UBERON:0002530", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UPHENO:0002830", - "UBERON:0004288", - "UPHENO:0050108", - "UPHENO:0087006", - "UPHENO:0085144", - "HP:0040070", - "UBERON:0001869", - "UBERON:0002471", - "UPHENO:0046505", - "UPHENO:0002896", - "UPHENO:0075175", - "UPHENO:0079876", - "UBERON:0001007", - "UBERON:0000479", - "UBERON:0013522", - "UPHENO:0000543", - "HP:0002664", - "UPHENO:0063569", - "HP:0002589", - "UBERON:0000463", - "UPHENO:0076783", - "UPHENO:0085195", - "UPHENO:0063629", - "HP:0011793", - "UBERON:0011215", - "UBERON:0000025", - "UBERON:0002090", - "HP:0002247", - "UPHENO:0080362", - "UPHENO:0063639", - "UPHENO:0081594", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "HP:0009777", - "UBERON:0004921", - "UBERON:0002114", - "UBERON:0000160", - "UBERON:0004733", - "UPHENO:0087427", - "UPHENO:0002808", - "HP:0025031", - "UPHENO:0086621", - "GO:0065007", - "UBERON:0005409", - "UPHENO:0087531", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0009382", - "UPHENO:0088047", - "HP:0002244", - "HP:0001510", - "UPHENO:0076803", - "HP:0002863", - "HP:0007367", - "HP:0001871", - "HP:0004377", - "UPHENO:0081562", - "UPHENO:0000541", - "BFO:0000003", - "HP:0001507", - "UPHENO:0049874", - "HP:0002597", - "UPHENO:0065599", - "UPHENO:0081598", - "GO:0048856", - "UBERON:0005358", - "UPHENO:0005597", - "UBERON:0005282", - "UBERON:0003947", - "UBERON:0005281", - "UBERON:0000153", - "UBERON:0004086", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0076812", - "HP:0002118", - "UPHENO:0001440", - "UPHENO:0080382", - "UPHENO:0005642", - "UPHENO:0081436", - "UPHENO:0080393", - "GO:0009790", - "UPHENO:0050121", - "UBERON:0004121", - "HP:0000924", - "GO:0007275", - "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0051804", - "UPHENO:0052778", - "UPHENO:0080220", - "HP:0002715", - "UPHENO:0069110", - "UPHENO:0014240", - "UBERON:0002106", - "HP:0040068", - "UPHENO:0002708", - "HP:0100763", - "UPHENO:0081466", - "CL:0002092", - "UPHENO:0087339", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:8600018", - "HP:0031072", - "UPHENO:0075774", - "UPHENO:0001005", - "HP:0000824", - "UPHENO:0002819", - "HP:0001626", - "UBERON:0011249", - "UPHENO:0087267", - "HP:0025408", - "CL:0000988", - "UPHENO:0056059", - "UBERON:0006314", - "UPHENO:0087123", - "UBERON:0001009", - "UBERON:0004177", - "HP:0006265", - "HP:0009799", - "UPHENO:0002948", - "HP:0012210", - "UBERON:0008962", - "UBERON:0001463", - "GO:0071702", - "UBERON:0000916", - "HP:0001511", - "UBERON:0002417", - "UPHENO:0002536", - "GO:0032940", - "GO:0030072", - "UBERON:0005173", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "HP:0001743", - "GO:0006810", - "UBERON:0005057", - "UPHENO:0073937", - "UBERON:0005177", - "UPHENO:0014335", - "UPHENO:0077872", - "UBERON:0000007", - "UPHENO:0080221", - "HP:0032367", - "HP:0002012", - "GO:0007267", - "UPHENO:0002332", - "UBERON:0003466", - "UBERON:0000949", - "UPHENO:0046284", - "UBERON:0003937", - "UBERON:0005156", - "UPHENO:0080588", - "UBERON:0002386", - "UPHENO:0077887", - "UPHENO:0005652", - "HP:0012503", - "GO:0051179", - "UPHENO:0075220", - "UPHENO:0081628", - "UPHENO:0051668", - "UPHENO:0087355", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0083689", - "GO:0007154", - "HP:0031071", - "UBERON:0011299", - "UPHENO:0049587", - "BFO:0000015", - "HP:0011747", - "UPHENO:0042775", - "UBERON:0034923", - "UPHENO:0086735", - "GO:0010817", - "UPHENO:0080126", - "UPHENO:0049927", - "UBERON:0015204", - "UPHENO:0087376", - "GO:0050789", - "UBERON:0002196", - "UPHENO:0046540", - "UBERON:0001894", - "HP:0025461", - "UPHENO:0051763", - "UPHENO:0083951", - "UPHENO:0075772", - "HP:0000818", - "UPHENO:0087516", - "UBERON:0010712", - "UPHENO:0076289", - "UPHENO:0076286", - "HP:0040075", - "GO:0046903", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0077890", - "GO:0030252", - "UBERON:0004122", - "UPHENO:0077889", - "UPHENO:0076287", - "CHEBI:24431", - "HP:0010993", - "UPHENO:0076735", - "GO:0015833", - "UBERON:0002316", - "GO:0002790", - "UPHENO:0076953", - "HP:0002180", - "UBERON:0000454", - "UBERON:0019221", - "HP:0002438", - "HP:0002518", - "HP:0000240", - "UPHENO:0086635", - "UBERON:0003544", - "UPHENO:0088186", - "UBERON:0005162", - "NCBITaxon:6072", - "UPHENO:0021803", - "UBERON:0000063", - "UBERON:0011216", - "HP:0011024", - "HP:0001317", - "UPHENO:0072814", - "UBERON:0004732", - "NCBITaxon:33154", - "UPHENO:0071309", - "UPHENO:0081601", - "UBERON:0002204", - "HP:0011282", - "CL:0000763", - "CL:0000000", - "HP:0025033", - "UPHENO:0088145", - "UBERON:0002371", - "HP:0025354", - ], - "has_phenotype_closure_label": [ - "Abnormal radial ray morphology", - "Abnormality of the genitourinary system", - "Renal hypoplasia", - "abnormal kidney morphology", - "cavitated compound organ", - "abnormal renal system", - "Abnormal renal morphology", - "compound organ", - "decreased size of the kidney", - "Abnormality of the kidney", - "abnormal kidney", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "Abnormality of the upper urinary tract", - "renal system", - "genitourinary system", - "excretory system", - "abnormal face morphology", - "Abnormality of the face", - "anatomical entity hypoplasia in face", - "Midface retrusion", - "abnormal midface morphology", - "abnormal face", - "localization", - "Abnormal duodenum morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "Decreased head circumference", - "organism", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "root", - "appendage", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormal diencephalon", - "abnormal forebrain morphology", - "secretion", - "Eumetazoa", - "Eukaryota", - "tissue", - "craniocervical region", - "regional part of brain", - "Abnormality of brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the cardiovascular system", - "Abnormal midface morphology", - "regional part of nervous system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "main body axis", - "forelimb zeugopod bone", - "nervous system", - "abdominal viscera", - "Abnormality of the head", - "abnormal secretion in independent continuant", - "cellular organisms", - "abnormal digit", - "Metazoa", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "absent anatomical entity in the independent continuant", - "abnormal manus morphology", - "pectoral appendage skeleton", - "Finger aplasia", - "autopodial skeleton", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "haemolymphatic fluid", - "digit plus metapodial segment", - "abnormal digit morphology", - "abnormal manus", - "telencephalon", - "abnormal nervous system", - "secretion by cell", - "digit", - "abnormal hormone blood level", - "abnormal manual digit 1 morphology", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", + "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", - "abnormal skeletal system morphology", - "abnormal biological_process in central nervous system", - "Abnormal digit morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "anterior region of body", - "Absent thumb", - "abnormal autopod region morphology", - "Hematological neoplasm", - "agenesis of anatomical entity", + "gamete generation", + "abnormally decreased number of cell in the independent continuant", + "abnormal neutrophil", "ectoderm-derived structure", - "subdivision of organism along main body axis", - "small intestine", - "Abnormal endocrine morphology", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "cerebral subcortex", - "acropodium region", - "bone marrow", - "skeleton of manus", - "digit 1", - "Gastrointestinal atresia", - "anatomical system", - "digit 1 or 5", - "segmental subdivision of hindbrain", - "segment of autopod", - "multicellular organism development", - "reproductive system", - "aplastic manual digit 1", - "abnormal intestine morphology", - "bone cell", - "megakaryocyte", + "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 growth", - "cerebral hemisphere", - "abnormal size of anatomical entity", - "material anatomical entity", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "mesoderm-derived structure", - "anatomical collection", - "All", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal nervous system morphology", + "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", - "bone element", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "Chiari malformation", - "Abnormal cerebral subcortex morphology", - "Abnormal morphology of the radius", - "multi-limb segment region", - "Forearm undergrowth", - "blood", - "skeletal element", - "zeugopod", - "body proper", - "manual digit", - "Leukoencephalopathy", - "pectoral appendage", - "central nervous system", - "Abnormality of limb bone", - "head", - "increased size of the anatomical entity", - "limb", - "cell", - "abnormal appendicular skeleton morphology", - "Abnormality of skull size", - "pectoral complex", - "trunk region element", - "decreased developmental process", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "subdivision of digestive tract", - "delayed biological_process", - "regulation of hormone levels", - "limb endochondral element", - "Abnormality of head or neck", - "hemopoietic organ", - "long bone", - "material entity", - "Abnormal appendicular skeleton morphology", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "Aplasia/hypoplasia of the extremities", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "musculoskeletal system", - "absent digit", - "organic substance transport", - "abnormal brain white matter morphology", - "Abnormal hindbrain morphology", - "phenotype", - "brain ventricle/choroid plexus", - "peptide transport", - "Abnormal cell morphology", - "anatomical entity hypoplasia", - "forelimb bone", - "hormone secretion", - "endocrine system", - "forelimb skeleton", - "abnormal localization", - "abnormal duodenum morphology", - "forelimb endochondral element", - "abnormal axial skeleton plus cranial skeleton morphology", - "Opisthokonta", - "lymphoid system", - "skeleton of limb", - "Abnormality of the hypothalamus-pituitary axis", + "Abnormal nervous system morphology", "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the lymphatic system", - "limb bone", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "continuant", - "lateral structure", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "viscus", "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "skeleton", - "abnormal cerebellum morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "forelimb zeugopod", - "anatomical structure development", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "digitopodium region", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "subdivision of organism along appendicular axis", - "abnormal growth hormone secretion", - "Abnormality of the vasculature", - "abnormal central nervous system morphology", - "skull", - "limb skeleton subdivision", - "Upper limb undergrowth", - "abnormal forelimb zeugopod bone", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "postcranial axial skeleton", - "decreased qualitatively developmental process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "immune organ", - "abnormal phenotype by ontology source", - "absent manual digit", - "duodenum atresia", - "vasculature", - "abnormal hemopoietic organ morphology", - "organ system subdivision", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Hypopituitarism", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "aplasia or hypoplasia of manual digit 1", - "system", - "appendicular skeletal system", - "abnormal spleen morphology", - "abnormal chemical entity level", - "absent anatomical entity in the multicellular organism", - "multicellular organism", - "hematopoietic system", - "Abnormal growth hormone level", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "anatomical wall", + "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", - "cerebellum", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", "decreased biological_process", - "radius bone hypoplasia", "aplasia or hypoplasia of anatomical entity", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "abnormally formed cerebellum", - "Abnormal forearm bone morphology", - "abnormal metencephalon morphology", - "Abnormality of the skeletal system", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "pituitary gland", - "abnormal nervous system morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal cell morphology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "abnormally increased number of anatomical entity in the abdomen", - "abnormal arm", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "Neurodegeneration", - "multicellular organismal process", - "ventricular system of brain", - "anatomical entity hypoplasia in independent continuant", - "organism subdivision", - "organ", - "occurrent", - "glandular system", - "skeletal system", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal head", - "arm", - "limb segment", - "adenohypophysis", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal development of anatomical entity", - "subdivision of trunk", - "Abnormal thumb morphology", - "phenotype by ontology source", - "abnormal endocrine gland morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "Abnormal upper limb bone morphology", - "quality", - "decreased biological_process in multicellular organism", - "manual digit 1", - "autopodial extension", - "organ part", - "subdivision of tube", - "reproductive organ", - "abnormal skull morphology", - "Short long bone", - "reproductive gland", - "Abnormality of the upper limb", - "Duodenal atresia", - "Neoplasm by anatomical site", - "alimentary part of gastrointestinal system atresia", - "abnormal cerebral hemisphere morphology", - "arm bone", - "Intestinal atresia", - "Abnormality of the gastrointestinal tract", - "Abnormality of the digestive system", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "digestive system element", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "Morphological abnormality of the gastrointestinal tract", - "abnormal gland morphology", - "tube", - "abnormal hormone independent continuant level", - "brain white matter", - "abnormal developmental process", - "intestine", - "upper urinary tract", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "duodenum", - "intestine atresia", - "Abnormal endocrine physiology", - "digestive tract", - "Neoplasm", - "decreased qualitatively biological_process in independent continuant", - "Abnormal intestine morphology", - "regulation of biological quality", - "Abnormal pituitary gland morphology", - "abnormal cerebral subcortex morphology", - "midface hypoplasia", - "Abnormal small intestine morphology", - "abnormal digestive system", - "metencephalon", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system", - "hemolymphoid system", - "Myelodysplasia", - "cell communication", - "biological_process", - "process", - "delayed growth", - "axial skeletal system", - "abnormal adenohypophysis", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "kidney", - "Growth delay", - "abnormal biological_process", - "abnormal role bodily fluid level", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "increased size of the brain ventricle", - "increased size of the anatomical entity in independent continuant", + "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", - "organ component layer", - "ventricular system of central nervous system", - "paired limb/fin segment", - "Ventriculomegaly", - "abnormal brain ventricle morphology", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased length of forelimb zeugopod bone", - "brain ventricle", - "changed biological_process rate", - "abnormal embryo development", - "anatomical entity", - "decreased qualitatively biological_process", - "decreased embryo development", - "spleen", - "Abnormality of the immune system", - "vascular system", - "lymphatic part of lymphoid system", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal vasculature", - "Polysplenia", - "anatomical cluster", - "manual digit 1 plus metapodial segment", - "abdomen", - "abdominal segment element", - "viscus", - "Supernumerary spleens", - "transport", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal hindbrain morphology", - "gland", - "abnormal cell", - "disconnected anatomical group", - "abnormally increased number of anatomical entity", - "white matter of telencephalon", - "bone marrow cell", - "circulatory system", - "immune system", - "Abnormal spleen morphology", - "chemical entity", - "cardiovascular system", - "abnormal lymphatic part of lymphoid system", - "peptide secretion", - "abnormal spleen", - "central nervous system cell part cluster", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "anatomical conduit", - "abnormal limb morphology", - "Abnormality of the spleen", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "changed biological_process rate in brain", - "abnormally increased number of spleen", - "abnormal transport", - "abnormally increased number of anatomical entity in the independent continuant", - "Anterior hypopituitarism", - "peptide hormone secretion", - "neuroendocrine system", - "absent anatomical entity", - "decreased biological_process in independent continuant", - "abnormal bone marrow morphology", - "abnormal hypothalamus-pituitary axis", - "Abnormal metencephalon morphology", - "non-connected functional system", - "abnormality of endocrine system physiology", - "Decreased response to growth hormone stimulation test", - "regulation of biological process", - "signaling", - "hypothalamus-pituitary axis", - "malformed anatomical entity", - "aplastic anatomical entity", - "nitrogen compound transport", - "Abnormal cerebral white matter morphology", - "Abnormal response to endocrine stimulation test", + "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", - "Abnormality of the endocrine system", - "abnormal cellular process", - "hindbrain", - "abnormal endocrine system", - "multi-tissue structure", - "bodily fluid", - "abnormal diencephalon morphology", - "ventricle of nervous system", - "abnormal role independent continuant level", + "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", - "Abnormality of the anterior pituitary", "abnormal biological_process in independent continuant", - "Abnormality of the diencephalon", + "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", - "gland of diencephalon", - "abnormal pituitary gland morphology", - "abnormal size of brain ventricle", - "abnormal secretion by cell", - "decreased biological_process in brain", - "abnormal independent continuant chemical entity level", + "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", - "decreased growth hormone secretion", - "abnormal endocrine system morphology", - "decreased secretion in independent continuant", - "abnormal bone of pectoral complex morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal anatomical entity morphology in the manus", - "abnormal role blood level", - "reproductive structure", - "neuroendocrine gland", - "Abnormal circulating hormone concentration", - "endochondral element", - "abnormal neuroendocrine gland morphology", - "abnormal cardiovascular system", - "export from cell", - "signal release", - "abnormal brain morphology", - "hormone transport", - "endocrine gland", - "cranial skeletal system", - "decreased biological_process in pituitary gland", - "abdominal segment of trunk", - "biological regulation", + "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", - "amide transport", - "abnormal multicellular organism chemical entity level", - "Aplasia/Hypoplasia of the thumb", - "decreased secretion in pituitary gland", - "hematopoietic cell", - "growth hormone secretion", - "anatomical entity degeneration in independent continuant", - "establishment of localization", - "cell-cell signaling", - "Abnormal periventricular white matter morphology", - "multi cell part structure", - "cellular process", - "cerebral hemisphere white matter", - "subdivision of head", - "appendage girdle complex", - "abnormal megakaryocyte morphology", - "forebrain", - "white matter of forebrain", - "midface", - "white matter", - "diencephalon", + "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", - "embryo development", - "cerebral hemisphere white matter degeneration", - "abnormal cerebral hemisphere white matter morphology", - "anatomical entity degeneration", - "Abnormal finger morphology", - "Atrophy/Degeneration affecting the central nervous system", - "decreased length of long bone", - "digestive system", - "Cerebellar malformation", - "organ subunit", - "segmental subdivision of nervous system", - "abnormally formed anatomical entity in independent continuant", - "abnormally formed anatomical entity", - "myeloid cell", - "Megakaryocyte dysplasia", - "Abnormal megakaryocyte morphology", - "trunk", - "abnormal bone marrow cell", + "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", ], }, { - "id": "MONDO:0013248", + "id": "MONDO:0013566", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "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 RAD51C gene.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", "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", + "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", ], "namespace": "MONDO", "has_phenotype": [ "HP:0040012", - "HP:0002984", + "HP:0007018", + "HP:0000470", + "HP:0008551", "HP:0009777", - "HP:0001627", - "HP:0001245", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", + "HP:0000957", "HP:0002023", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", - "HP:0004322", - "HP:0003774", - "HP:0025023", + "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", - "Hypoplasia of the radius", + "Attention deficit hyperactivity disorder", + "Short neck", + "Microtia", "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Stage 5 chronic kidney disease", - "Rectal 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_count": 15, + "has_phenotype_count": 36, "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", + 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"UPHENO:0087349", "UBERON:0000468", - "HP:0005922", - "UPHENO:0026183", - "UPHENO:0084771", - "UBERON:0005178", - "UPHENO:0049701", - "UPHENO:0081313", - "GO:0048232", - "UPHENO:0086172", - "UBERON:0000059", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0011582", - "UPHENO:0052178", - "HP:0040072", - "UBERON:0010912", - "UPHENO:0026028", - "UPHENO:0063565", - "UPHENO:0080362", - "UPHENO:0086128", + "UBERON:0002389", + "UBERON:0001460", + "GO:0040007", + "UBERON:0019221", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0085068", + "UBERON:0004708", + "UPHENO:0046571", + "HP:0002086", + "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", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:0003103", - "UBERON:0001009", - "UBERON:0000948", - "NCBITaxon:6072", - "UPHENO:0076776", + "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", + "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:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UBERON:0004247", + "UBERON:0000117", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UBERON:0007811", + "HP:0012252", + "UPHENO:0075696", + "UBERON:0004908", + "HP:0000464", "UBERON:0000915", "UBERON:0005181", - "UBERON:0015410", - "UPHENO:0076803", - "UPHENO:0002655", - "UBERON:0004489", - "UBERON:0002471", - "UPHENO:0081755", - "UPHENO:0002816", - "UBERON:0011143", - "UPHENO:0053580", - "GO:0006325", - "UPHENO:0063639", - "HP:0011844", - "HP:0001227", - "UBERON:0034925", - "HP:0001421", - "UPHENO:0002832", - "GO:0032502", - "UPHENO:0063632", - "HP:0003011", - "HP:0001446", - "UBERON:0000161", - "UPHENO:0084841", - "UBERON:0000383", + "UBERON:0005944", + "UPHENO:0003020", + "UBERON:0005409", + "UPHENO:0025945", "UBERON:0006048", - "UBERON:0007271", - "HP:0009127", - "UBERON:0007269", - "UBERON:0004480", - "UBERON:0004481", - "HP:0001245", + "UPHENO:0021304", + "HP:0001574", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "HP:0005607", + "UBERON:0001005", + "UPHENO:0056212", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0088185", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UBERON:0000475", + "UPHENO:0076702", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", + "HP:0012759", + "HP:0007018", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", + "UPHENO:0025211", + "UPHENO:0087548", + "GO:1901360", + "UBERON:0000061", + "UBERON:0035639", + "UPHENO:0056333", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "HP:0000369", + "HP:0000118", + "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", - "UPHENO:0079876", - "UBERON:0001007", - "HP:0011793", - "HP:0025033", - "HP:0011805", - "UPHENO:0086682", - "UBERON:0000025", - "UBERON:0034929", - "HP:0002250", "HP:0009380", "UPHENO:0074228", - "UBERON:0000990", - "UPHENO:0084448", - "UBERON:0001245", "GO:0006807", "UPHENO:0002839", - "HP:0025031", - "UBERON:0036295", - "UBERON:0004907", - "HP:0000924", - "UBERON:0004121", - "HP:0034915", - "UPHENO:0063599", - "GO:0031326", - "UPHENO:0065599", - "HP:0034058", - "UBERON:0000064", - "UBERON:0001008", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "HP:0010946", - "UPHENO:0080382", - "GO:0048609", - "GO:0003006", - "UBERON:0001224", - "HP:0001197", - "UBERON:0000922", - "HP:0010945", - "UPHENO:0075949", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0084132", - "UPHENO:0076718", - "UPHENO:0005651", - "HP:0003241", - "HP:0010935", - "UPHENO:0049940", - "HP:0000119", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0000323", - "UPHENO:0087427", - "HP:0034242", - "UBERON:8450002", - "UBERON:0000916", - "UBERON:0002417", - "UBERON:0005173", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0034923", - "UPHENO:0084834", - "UBERON:0004054", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0076779", - "UBERON:0010538", - "UPHENO:0001478", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "UBERON:0000079", - "UPHENO:0086201", - "UPHENO:0085873", - "CL:0000586", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0010944", - "HP:0001510", - "UPHENO:0086023", - "UPHENO:0080369", - "CL:0000408", - "GO:0007283", - "UBERON:0000481", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "CL:0000015", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0000991", - "HP:0011024", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", - "UPHENO:0080377", - "HP:0000032", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "UBERON:0000473", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "UPHENO:0046411", - "UPHENO:0046707", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009623", - "UBERON:0012361", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009484", - "UPHENO:0084829", - "UPHENO:0080351", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0003466", - "UPHENO:0069254", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", + "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", - "UPHENO:0000543", - "UBERON:0013522", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "HP:0002589", - "UPHENO:0063629", - "HP:0011100", - "HP:0012732", - "NCBITaxon:1", - "UPHENO:0084124", - "UPHENO:0087346", - "HP:0009777", - "UBERON:0004921", - "UBERON:0000160", - "HP:0002034", - "UPHENO:0002725", - "HP:0012718", - "HP:0025023", + "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": [ - "rectum atresia", - "abnormal rectum", - "Abnormal intestine morphology", - "lower digestive tract", - "intestine", - "rectum", - "internal anal region", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", + "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", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "subdivision of tube", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "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", - "Rectal atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Chronic kidney disease", - "Abnormal renal physiology", - "Renal insufficiency", - "Abnormality of the urinary system physiology", - "Intestinal atresia", - "non-functional kidney", + "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", - "decreased height of the anatomical entity", - "digestive system element", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "Renal cyst", - "deviation of manual digit", - "intestine atresia", - "Proximal placement of thumb", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "Short finger", - "developmental process", - "reproductive process", - "abnormally localised testis", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "developmental process involved in reproduction", - "abnormally localised anatomical entity", - "abnormal reproductive system", - "absent gamete", - "sperm", - "male organism", - "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "testis", - "internal male genitalia", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "male germ cell", - "abnormality of multicellular organism height", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "organism substance", - "semen", - "abnormal male reproductive system", - "male reproductive system", - "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "decreased developmental process", - "reproductive organ", - "spermatogenesis", - "gamete generation", - "absent anatomical entity in the semen", - "abnormal gamete", - "abnormal number of anatomical enitites of type cell", - "external genitalia", - "internal genitalia", - "gonad", - "Abnormality of the genital system", + "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", - "germ cell", - "Abnormality of reproductive system physiology", - "gamete", - "obsolete multicellular organism reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "changed biological_process rate", - "absent germ cell", - "abnormal renal system morphology", - "Abnormality of prenatal development or birth", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "kidney", - "sexual reproduction", - "abnormal genitourinary system", - "increased size of the renal pelvis", - "late embryo", - "abnormal renal system", - "Abnormal renal morphology", - "embryo", - "renal pelvis", - "Abnormality of the kidney", - "renal pelvis/ureter", - "disconnected anatomical group", + "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", - "abdomen", - "decreased length of digit", - "anatomical cluster", - "Abnormality of the upper urinary tract", - "renal system", - "Abnormal fetal genitourinary system morphology", + "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", - "increased size of the anatomical entity in independent continuant", - "Abnormal fetal morphology", - "Abnormal renal pelvis morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "abnormal renal pelvis", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "abnormal closing of the anatomical entity", - "abnormal digestive system", - "deviation of manual digit 1", - "digestive tract", - "multicellular organismal reproductive process", - "anatomical conduit", - "anus", + "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", - "digestive system", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "musculature of upper limb", - "haploid cell", - "appendage musculature", - "musculature of body", - "Abnormality of the musculature of the upper limbs", - "cavitated compound organ", - "abnormal musculature of upper limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature of the hand", - "germ line cell", - "thenar eminence hypoplasia", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "abnormal musculature of limb", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "musculature of manus", - "abnormal musculature", - "abnormal heart morphology", - "Cryptorchidism", - "heart plus pericardium", - "Abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Fetal ultrasound soft marker", - "excretory system", - "circulatory system", - "body proper", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "limb endochondral element", + "Abnormality of the respiratory system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", "subdivision of digestive tract", "delayed biological_process", - "Short forearm", - "increased size of the anatomical entity", - "abnormal limb bone", - "limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", + "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", - "endochondral element", - "pectoral appendage", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "abnormal long bone morphology", - "forelimb zeugopod bone hypoplasia", - "anatomical entity hypoplasia in independent continuant", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "Abnormality of the musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", + "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", - "long bone", - "abnormal testis morphology", - "forelimb zeugopod", - "male reproductive organ", - "cellular component organization or biogenesis", - "multicellular anatomical structure", - "forelimb endochondral element", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "Abnormality of the urinary system", "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "musculature of limb", + "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", + ], + }, + { + "id": "MONDO:0012187", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group J", + "xref": [ + "DOID:0111097", + "GARD:15449", + "MESH:C563801", + "NCIT:C129027", + "OMIM:609054", + "UMLS:C1836860", + ], + "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", + ], + "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_count": 8, + "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: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", + "UBERON:0010000", + "UBERON:0002390", + "CL:0000000", + "UPHENO:0054970", + "HP:0025354", + "HP:0005528", + "UPHENO:0005597", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0049587", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0050108", + "UBERON:0001016", + "UPHENO:0080377", + "HP:0001510", + "UPHENO:0005642", + "GO:0032501", + "HP:0001511", + "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", + "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", + ], + "has_phenotype_closure_label": [ + "programmed DNA elimination", + "obsolete cell", + "abnormal metabolic process", "negative regulation of biosynthetic process", - "decreased length of forelimb zeugopod bone", - "orifice", "DNA metabolic process", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "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", - "programmed DNA elimination", - "digit", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "metabolic process", - "multi-limb segment region", - "abnormal cellular process", - "root", - "appendage", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "Abnormal internal genitalia", - "regulation of cellular process", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "abnormal growth", - "independent continuant", - "abnormal intestine morphology", - "aplastic manual digit 1", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "anal region", - "paired limb/fin skeleton", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "Abnormal anus morphology", "protein-DNA complex organization", - "arm", - "abnormal kidney", "Abnormality of chromosome stability", - "abnormal manus", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", "regulation of macromolecule metabolic process", - "acropodium region", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "Deviation of finger", + "regulation of biosynthetic process", "negative regulation of metabolic process", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abdominal segment element", - "abnormal thenar eminence", + "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", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "biological_process", - "Abnormal forearm bone morphology", - "Abnormality of the skeletal system", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "continuant", - "Abnormality of limbs", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "material entity", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "upper limb segment", - "appendicular skeleton", - "subdivision of organism along main body axis", - "abnormal biological_process", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "Abnormal long bone morphology", - "skeleton of limb", - "muscle structure", - "material anatomical entity", - "external male genitalia", + "abnormal organelle organization", + "metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", "chromatin organization", - "pectoral appendage musculature", - "abnormal metabolic process", - "abnormal forelimb zeugopod morphology", + "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", - "Non-obstructive azoospermia", - "biological regulation", - "regulation of cellular biosynthetic process", - "forelimb zeugopod skeleton", + "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", - "regulation of cellular metabolic process", - "abnormality of renal system physiology", - "quality", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal chromatin organization", - "Chromosome breakage", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "bone element", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", "forelimb skeleton", - "Abnormal cellular physiology", - "organic substance metabolic process", - "obsolete nitrogen compound metabolic process", - "abnormal upper urinary tract", - "musculoskeletal system", - "delayed growth", - "abnormal cardiovascular system", - "skeletal system", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased length of long bone", - "primary metabolic process", - "skeletal element", - "zeugopod", - "autopodial extension", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "process", - "nucleic acid metabolic process", - "aplasia or hypoplasia of skeleton", + "limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "bone of appendage girdle complex", + "Abnormality of the hand", "forelimb", - "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal limb bone morphology", - "radius endochondral element", - "Abnormality of digestive system morphology", - "thenar eminence", - "manus", - "abnormal limb", - "compound organ", - "zeugopodial skeleton", - "obsolete cell", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal radius bone morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of the anus", - "organ system subdivision", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "palmar/plantar part of autopod", - "external soft tissue zone", - "Abnormality of limb bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "occurrent", - "organ", - "heart", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "radius bone", - "deviation of anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "Aplasia/hypoplasia involving forearm bones", - "forelimb long bone", - "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "limb", - "cell", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Upper limb undergrowth", + "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", - "trunk region element", - "pectoral complex", - "Opisthokonta", - "paired limb/fin segment", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal skeletal system", - "forelimb zeugopod bone", - "subdivision of skeleton", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "anatomical system", + "delayed biological_process", + "autopod region", "digit 1", "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", + "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", - "cardiovascular system", + "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", - "agenesis of anatomical entity", - "Abnormality of the hand", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", + "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", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "segment of manus", - "cellular process", - "Abnormal digit morphology", - "absent anatomical entity", - "Short thumb", + "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", - "digit 1 plus metapodial segment", - "abnormal digit morphology", - "digit plus metapodial segment", - "Abnormal finger morphology", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Finger aplasia", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "pectoral appendage skeleton", - "abnormal manus morphology", - "primary circulatory organ", - "digit 1 or 5", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", + "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", - "decreased spermatogenesis", - "abnormal kidney 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:0010351", + "id": "MONDO:0012565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group B", - "xref": [ - "DOID:0111098", - "GARD:15257", - "MESH:C564497", - "NCIT:C125703", - "OMIM:300514", - "UMLS:C1845292", - ], + "name": "Fanconi anemia complementation group N", + "xref": ["DOID:0111094", "GARD:15500", "MESH:C563657", "OMIM:610832", "UMLS:C1835817"], "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", "synonym": [ - "FA2", - "FACB", - "FANCB", - "Fanconi Anemia, complementation group type B", - "Fanconi anaemia complementation group type B", - "Fanconi anemia complementation group B", - "Fanconi anemia complementation group type B", - "Fanconi anemia, complementation group B", - "Fanconi anemia, complementation group B, X-linked recessive", - "Fanconi pancytopenia type 2", - "Fanconi pancytopenia, type 2", + "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:0002575", - "HP:0001249", - "HP:0000238", - "HP:0000369", - "HP:0002101", - "HP:0000815", - "HP:0002247", + "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", - "HP:0007766", - "HP:0002119", + "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:0001873", - "HP:0001915", - "HP:0001680", - "HP:0002032", - "HP:0003220", - "HP:0001321", - "HP:0002079", - "HP:0000054", - "HP:0000396", - "HP:0003468", - "HP:0000135", - "HP:0004977", - "HP:0001643", - "HP:0001629", - "HP:0001195", - "HP:0002188", - "HP:0001511", - ], - "has_phenotype_label": [ - "Short neck", - "Absent thumb", - "Tracheoesophageal fistula", - "Intellectual disability", - "Hydrocephalus", - "Low-set ears", - "Abnormal lung lobation", - "Hypergonadotropic hypogonadism", - "Duodenal atresia", - "Growth delay", - "Optic disc hypoplasia", - "Ventriculomegaly", - "Renal agenesis", - "Thrombocytopenia", - "Aplastic anemia", - "Coarctation of aorta", - "Esophageal atresia", - "Abnormality of chromosome stability", - "Cerebellar hypoplasia", - "Hypoplasia of the corpus callosum", - "Micropenis", - "Overfolded helix", - "Abnormal vertebral morphology", - "Hypogonadism", - "Bilateral radial aplasia", - "Patent ductus arteriosus", - "Ventricular septal defect", - "Single umbilical artery", - "Delayed CNS myelination", - "Intrauterine growth retardation", - ], - "has_phenotype_count": 30, - "has_phenotype_closure": [ - "UPHENO:0052778", - "GO:0009790", - "UPHENO:0005433", - "UPHENO:0080393", - "UPHENO:0081436", - "UPHENO:0052178", - "UPHENO:0005642", - "UPHENO:0080382", - "GO:0048709", - "GO:0014003", - "UPHENO:0061854", - "GO:0007399", - "GO:0042552", - "GO:0032291", - "GO:0022008", - "GO:0010001", - "UPHENO:0050121", - "UPHENO:0083951", - "UPHENO:0000553", - "HP:0012447", - "UPHENO:0084012", - "GO:0048468", - "HP:0012448", - "UPHENO:0084007", - "GO:0009987", - "UPHENO:0000552", + "HP:0011355", + "GO:0043473", + "UPHENO:0060026", + "UPHENO:0074589", + "HP:0001000", + "UPHENO:0080662", "UPHENO:0059829", - "HP:0011425", - "HP:0001195", - 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"HP:0012145", + "UPHENO:0081466", + "CL:0002092", + "HP:0020047", + "UPHENO:0087355", "CL:0000457", - "UBERON:0004537", "UBERON:0000064", "CL:0000081", - "UBERON:0003951", "CL:0000763", - "UPHENO:0085371", - "UBERON:0000079", - "UBERON:0005970", - "HP:0001871", - "UPHENO:0084761", - "HP:0001872", + "CL:0000232", "UBERON:0004375", "HP:0011873", - "CL:0000232", - "UPHENO:0081095", - "UBERON:0010314", - "HP:0001873", - "UBERON:0001018", - "CL:0000458", - "HP:0020047", - "UPHENO:0081466", - "UPHENO:0002903", - "UPHENO:0081783", - "CL:0002092", - "HP:0025354", - "UBERON:0003037", - "CL:0000151", - "UBERON:0002413", - "CL:0000988", + "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:0087339", - "HP:0010987", + "UPHENO:0084761", + "HP:0001872", "HP:0005561", + "HP:0010987", "HP:0011893", - ], - "has_phenotype_closure_label": [ - "decreased developmental process", - "decreased qualitatively developmental process", - "abnormal embryo development", - "changed biological_process rate", - "Intrauterine growth retardation", - "changed embryo development rate", - "Delayed CNS myelination", - "abnormal biological_process in nervous system", - "gliogenesis", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "neurogenesis", - "glial cell differentiation", - "ensheathment of neurons", - "cellular developmental process", - "abnormal myelination in independent continuant", - "abnormal central nervous system myelination in independent continuant", - "delayed central nervous system myelination", - "Delayed myelination", - "Abnormal CNS myelination", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormality of prenatal development or birth", - "decreased embryo development", - "abnormal umbilical blood vessel morphology", - "entire extraembryonic component", - "Abnormality of the umbilical cord", - "Abnormal fetal cardiovascular morphology", - "extraembryonic structure", - "abnormal late embryo", - "Fetal anomaly", - "Abnormal cardiac ventricle morphology", + "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 interventricular septum morphology", - "abnormal incomplete closing of the interventricular septum", "abnormal cardiac ventricle morphology in the independent continuant", - "conceptus", - "abnormal biological_process in central nervous system", - "primary circulatory organ", - "abnormal anatomical entity morphology in the heart", - "heart vasculature", - "thoracic segment blood vessel", - "artery", - "Congenital malformation of the great arteries", - "circulatory organ", - "trunk blood vessel", - "abnormal artery morphology in the independent continuant", - "coronary vessel", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal systemic artery morphology", - "systemic artery", - "vasculature of organ", - "heart plus pericardium", - "vasculature of trunk", - "Aplasia/Hypoplasia of the radius", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "Abnormalities of placenta or umbilical cord", - "forelimb long bone", - "aplastic forelimb zeugopod bone", - "Abnormal morphology of the radius", - "umbilical blood vessel", - "abnormal heart morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "embryo development", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "Aplasia involving bones of the extremities", - "limb long bone", - "radius endochondral element", - "abnormal forelimb zeugopod morphology", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "forelimb zeugopod skeleton", - "Abnormal vertebral morphology", - "Abnormal helix morphology", - "folded anatomical entity in independent continuant", - "folded anatomical entity", - "Abnormally folded helix", - "pinna", - "abnormal helix of outer ear morphology", - "surface feature shape anatomical entity", - "abnormal penis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "external male genitalia", - "intromittent organ", - "Abnormal external genitalia", - "decreased size of the penis", - "abnormal male reproductive system", - "abnormal vertebral column morphology", - "abnormal external male genitalia morphology", - "abnormal penis", - "male reproductive system", - "abnormal reproductive system morphology", - "decreased size of the external male genitalia", - "abnormal cerebral hemisphere morphology", - "white matter of telencephalon", - "abnormal cerebral hemisphere white matter morphology", - "white matter", - "telencephalon", - "abnormal size of corpus callosum", - "abnormal forebrain morphology", - "folded helix of outer ear", - "forebrain", - "white matter of forebrain", - "brain commissure", - "corpus callosum hypoplasia", - "decreased size of the corpus callosum", - "cerebral subcortex", - "Abnormal cerebral subcortex morphology", - "aplasia or hypoplasia of telencephalon", - "Hypoplasia of the corpus callosum", - "Abnormal ventricular septum morphology", - "Abnormal cerebral white matter morphology", - "Abnormal cerebral morphology", - "cellular process", - "cerebral hemisphere white matter", - "intercerebral commissure", - "nervous system commissure", - "Cerebral white matter hypoplasia", - "nervous system development", - "Thin corpus callosum", - "corpus callosum", - "abnormal cerebellum morphology", - "segmental subdivision of nervous system", - "external genitalia", - "cerebellum", - "metencephalon", - "delayed myelination", - "abnormal hindbrain morphology", - "Abnormal metencephalon morphology", - "cerebellum hypoplasia", - "regional part of nervous system", - "forelimb zeugopod", - "Aplasia/Hypoplasia of the cerebellum", - "Cerebellar hypoplasia", - "Abnormality of metabolism/homeostasis", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "metabolic process", - "abnormal vertebra morphology", - "Esophageal atresia", - "esophagus atresia", - "Abnormal blood vessel morphology", - "Abnormality of the vasculature", - "Abnormality of cardiovascular system morphology", - "aortic system", - "cardiovascular system", - "Coarctation of aorta", - "blood vasculature", - "arterial system", - "outflow tract", - "blood vessel", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormality of the cardiovascular system", - "aorta", - "Bilateral radial aplasia", - "abnormal metencephalon morphology", - "abnormal cardiovascular system morphology", - "abnormal aorta morphology", - "thoracic cavity blood vessel", - "helix of outer ear", - "arterial blood vessel", - "Abnormal aortic morphology", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Aplastic anemia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "erythroid lineage cell", - "tissue", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Abnormality of mental function", - "abnormality of nervous system physiology", - "forelimb zeugopod bone", - "nervous system", - "renal system", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "biological_process", - "Abnormal optic nerve morphology", - "nervous system process", - "system process", - "subdivision of digestive tract", + "abnormal interventricular septum morphology", "delayed biological_process", - "Single umbilical artery", - "developing anatomical structure", - "Abnormal location of ears", - "thoracic cavity element", - "Abnormal systemic arterial morphology", - "hematopoietic system", - "respiratory airway", - "nucleate cell", - "abnormal cerebral subcortex morphology", - "respiratory tube", - "abnormal nervous system", - "abnormality of anatomical entity physiology", + "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", - "endoderm-derived structure", + "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", - "proximo-distal subdivision of respiratory tract", - "anatomical structure morphogenesis", - "Abnormality of the digestive system", - "Abnormal esophagus morphology", - "Abnormality of the vertebral column", - "retina", - "thoracic segment of trunk", - "abnormal digit", - "Abnormality of the respiratory system", - "Abnormal tracheobronchial morphology", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal esophagus morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "mesoderm-derived structure", - "abnormality of respiratory system physiology", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "abnormal limb", - "manus", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "appendicular skeleton", - "Abnormal cerebellum morphology", - "upper limb segment", - "limb skeleton subdivision", - "cell differentiation", - "appendicular skeletal system", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "axon ensheathment in central nervous system", + "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", - "absent anatomical entity in the renal system", - "cell", + "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", - "abnormal size of brain ventricle", "bone cell", - "arm", - "head", + "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 appendicular skeleton morphology", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormal retinal morphology", - "Finger aplasia", - "absent kidney in the renal system", - "bone of appendage girdle complex", - "anatomical wall", + "Abnormal morphology of the radius", + "zone of skin", + "forelimb skeleton", "genitourinary system", - "digestive tract", - "vessel", - "lateral structure", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Aplasia/hypoplasia involving bones of the hand", - "decreased size of the optic disc", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal forebrain morphology", - "forelimb", + "forelimb zeugopod", + "decreased size of the anatomical entity in the pectoral complex", "abnormal digestive system", "Abnormality of the cervical spine", "Abnormal skeletal morphology", - "umbilical cord", - "autopodial skeleton", + "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", - "Abnormal ear morphology", - "abnormal autopod region morphology", - "Absent thumb", - "Low-set ears", - "abnormal ear", - "penis hypoplasia", + "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", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "lung lobe formation", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "multicellular organism development", - "reproductive system", + "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", - "Abnormal fetal morphology", - "commissure of telencephalon", - "abnormal intestine morphology", + "segment of autopod", + "organic cyclic compound metabolic process", + "anatomical line between pupils", "independent continuant", "abnormal leukocyte morphology", - "radius bone", - "Abnormality of the hand", - "embryonic cardiovascular system", + "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", - "segmental subdivision of hindbrain", + "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", - "Aplasia/hypoplasia involving the skeleton", - "optic disc hypoplasia", - "decreased qualitatively biological_process", - "anatomical entity", - "long bone", - "material entity", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", + "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", - "Abnormal cardiac septum morphology", - "subdivision of skeleton", - "endochondral bone", - "cervical vertebra", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "animal organ development", - "abnormal anatomical entity morphology", - "Abnormality of head or neck", - "skeletal element", - "thoracic segment organ", - "anatomical collection", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the optic nerve", - "abnormal cellular process", - "secretory cell", - "bone element", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Cognitive impairment", - "abnormal central nervous system myelination", - "organ subunit", - "obsolete cell", - "digestive system", - "abnormal optic disc morphology", - "paired limb/fin", - "Morphological abnormality of the gastrointestinal tract", - "appendage", - "root", - "Aplasia/Hypoplasia of fingers", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal anatomical entity", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the retina", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "entity", - "abnormal anatomical entity morphology in the manus", - "skeleton", - "abnormal limb morphology", - "anatomical conduit", - "heart", - "Abnormality of the head", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "Abnormality of the gastrointestinal tract", + "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", - "glial cell development", - "Abnormal hindbrain morphology", + "nucleobase-containing compound metabolic process", "phenotype", "Abnormal cell morphology", - "musculoskeletal system", - "Abnormality of the eye", - "axon tract", - "abnormal upper urinary tract", - "Abnormality of the neck", - "manual digit 1", - "autopodial extension", - "abnormal face", - "abnormal alimentary part of gastrointestinal system", - "organ system subdivision", - "embryo", - "abnormal blood cell", - "erythrocyte", - "abnormal vertebral column", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", + "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", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "limb segment", - "subdivision of vertebral column", - "absent manual digit", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal craniocervical region morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", "continuant", - "absent radius bone in the independent continuant", - "systemic arterial system", "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", - "abnormal blood vessel morphology", - "lung", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "cognition", - "neck", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "Fetal ultrasound soft marker", - "abnormal neck", - "abnormal brain ventricle morphology", - "endochondral element", "craniocervical region", - "abnormal trachea morphology", - "male organism", + "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", - "anterior region of body", - "aplastic anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "Abnormal tracheal morphology", - "abnormal respiratory tube morphology", - "dorsum", - "abnormal coronary vessel morphology", - "tracheobronchial tree", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "main body axis", - "abnormal kidney morphology", - "decreased length of neck", - "cervical vertebra endochondral element", - "postcranial axial skeleton", - "abnormal external ear morphology", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "bone of dorsum", - "abnormal neck morphology", - "abnormal artery morphology", - "Abnormal forearm morphology", - "vertebra", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "reproductive organ", - "cell development", - "skeleton of manus", - "shape helix of outer ear", + "Abnormal finger morphology", "abnormal digestive system morphology", "abnormal forelimb morphology", - "quality", - "abnormal tracheobronchial tree morphology", - "Abnormal finger morphology", - "Abnormal neck morphology", - "anatomical system", - "upper digestive tract", - "abnormal digit morphology", - "abnormal skeletal system", - "digit 1 plus metapodial segment", - "material anatomical entity", - "skeleton of limb", - "digit plus metapodial segment", - "subdivision of tube", - "aplasia or hypoplasia of manual digit 1", - "system", - "circulatory system", - "bone marrow cell", - "tube", - "brain white matter", - "abnormal developmental process", - "penis", - "digestive system element", + "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", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", - "Abnormal corpus callosum morphology", - "irregular bone", - "organism", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb", - "increased size of the anatomical entity", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "multicellular organismal process", - "organ part", - "absent anatomical entity in the multicellular organism", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "Intellectual disability", - "bone marrow", - "subdivision of organism along main body axis", - "small intestine", - "agenesis of anatomical entity", + "non-material anatomical boundary", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "phenotype by ontology source", - "abnormal development of anatomical entity", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "absent anatomical entity", - "abnormal opening of the anatomical entity", - "ductus arteriosus", - "dorsal region element", - "body proper", - "respiratory system", - "pectoral appendage", - "abnormal hematopoietic system morphology", - "system development", - "digit", - "multi-limb segment region", - "acropodium region", - "tube development", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "cerebrospinal fluid", - "All", - "posterior segment of eyeball", - "ectoderm-derived structure", - "Hydrocephalus", - "Abnormal leukocyte count", - "cavitated compound organ", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "surface feature shape anatomical entity in independent continuant", - "Abnormal optic disc morphology", - "abnormal brain white matter morphology", - "Abnormality of the outer ear", - "abnormal cardiac septum morphology", - "organism substance", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormally increased number of anatomical entity", - "Morphological central nervous system abnormality", - "organ component layer", - "Abnormality of the urinary system", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "myelination", - "vascular system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "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", - "Aplasia/Hypoplasia of the corpus callosum", - "appendage girdle complex", - "subdivision of head", - "transudate", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal nervous system morphology", - "abnormal umbilical cord", + "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", - "Abnormal cerebral ventricle morphology", - "abnormal brain ventricle/choroid plexus morphology", - "ventricle of nervous system", - "increased size of the anatomical entity in independent continuant", - "vestibulo-auditory system", - "abnormal cranial nerve II morphology", - "hematopoietic cell", - "cellular organisms", - "Abnormal lung morphology", - "Decreased anatomical entity position", - "abnormal ear morphology", + "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", - "late embryo", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "lower respiratory tract", - "abnormal bone marrow morphology", - "non-connected functional system", - "abnormal location of ear", - "ear", - "anatomical entity hypoplasia in face", - "abnormal head morphology", + "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", - "gonad", - "abnormal growth", - "abnormal ocular fundus morphology", - "Decreased external ear position", - "platelet", - "abnormal location of external ear", - "Abnormality of the ear", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "orbital region", - "abnormal telencephalon morphology", - "external ear", - "abnormal anatomical entity topology in independent continuant", - "Patent ductus arteriosus", - "dorsal part of neck", - "Abnormal pinna morphology", - "abnormal external ear", - "abnormal bone marrow cell", - "trunk", + "anus atresia", + "Short long bone", + "abnormal skull morphology", + "abnormal immune system", + "Acute leukemia", + "camera-type eye", "abnormal shape of continuant", - "zeugopod", - "pair of lungs", - "segment of autopod", - "respiration organ", - "lung lobe development", - "Abnormal respiratory system physiology", - "Abnormal lung development", - "Abnormal lung lobation", - "abnormal lung lobe formation", - "abnormal lung morphology", - "Hypoplastic male external genitalia", - "anatomical structure development", - "anatomical structure formation involved in morphogenesis", - "Hypergonadotropic hypogonadism", - "respiratory system development", - "Abnormality of the orbital region", - "Aplasia/hypoplasia involving forearm bones", - "lung development", - "tract of brain", - "abnormally decreased functionality of the gonad", - "respiratory tube development", - "lung morphogenesis", - "Aplasia/Hypoplasia affecting the fundus", - "Abnormal platelet count", - "manual digit 1 or 5", - "developmental process", - "Abnormal myelination", + "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", - "abnormality of reproductive system physiology", - "Abnormality of the genital system", - "regional part of brain", - "Abnormal posterior eye segment morphology", - "Abnormality of reproductive system physiology", - "Abnormality of the endocrine system", - "hindbrain", - "animal organ morphogenesis", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "ventricular system of brain", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "glandular system", - "reproductive structure", - "changed developmental process rate", - "abnormal brain commissure morphology", - "dorsal telencephalic commissure", - "abnormal vasculature", - "abnormal genitourinary system", - "blood cell", - "Abnormality of the genitourinary system", - "Abnormal duodenum morphology", - "abnormal axon tract morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Duodenal atresia", - "vasculature", - "duodenum atresia", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal systemic arterial system morphology", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal external genitalia", - "Abnormal renal morphology", - "respiratory tract", - "alimentary part of gastrointestinal system atresia", - "arm bone", - "Intestinal atresia", - "intestine", - "duodenum", - "intestine atresia", - "Abnormal small intestine morphology", - "aplasia or hypoplasia of corpus callosum", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "Abnormality of the male genitalia", + "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", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", "upper urinary tract", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "cardiac chamber", + "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 corpus callosum morphology", - "abnormal orbital region", - "Aplasia/Hypoplasia of the cerebral white matter", - "visual system", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "multi cell part structure", - "central nervous system myelination", - "abnormal posterior segment of eyeball morphology", + "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", - "Ventricular septal defect", - "cerebral hemisphere", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "bodily fluid", - "multi-tissue structure", - "abnormal vascular system morphology", - "photoreceptor array", - "cranial neuron projection bundle", - "abnormal retina morphology", - "great vessel of heart", - "abnormal myeloid cell morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "aplasia or hypoplasia of cranial nerve II", - "camera-type eye", - "chorioretinal region", - "abnormal immune system", - "optic disc", - "central nervous system cell part cluster", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "ocular fundus", - "brain ventricle", + "decreased size of the eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", "eyeball of camera-type eye", - "cervical region", - "Optic disc hypoplasia", - "Eumetazoa", - "Abnormal umbilical cord blood vessel morphology", - "Eukaryota", - "neuron projection bundle", "simple eye", - "trachea", "Abnormality of the skeletal system", "biogenic amine secreting cell", - "cranial nerve II", - "central nervous system development", - "esophagus", - "hemolymphoid system", - "abnormal size of optic disc", - "Abnormality of the face", - "abnormal face morphology", - "forelimb bone", - "anatomical entity hypoplasia", - "increased size of the brain ventricle", - "septum", - "paired limb/fin segment", - "Ventriculomegaly", - "excretory system", - "absent kidney", - "Abnormality of the upper urinary tract", - "manual digit 1 plus metapodial segment", - "abdomen", - "lung lobe morphogenesis", - "abdominal segment of trunk", - "abdominal segment element", - "subdivision of skeletal system", - "absent kidney in the independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abnormal renal system", - "abnormal respiratory system", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal biological_process", + "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 dorsal telencephalic commissure morphology", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "Overfolded helix", + "abnormal biological_process", + "Decreased multicellular organism mass", + "abnormally decreased number of cell", "Abnormal leukocyte morphology", "Abnormal platelet morphology", - "cardiac septum", - "anucleate cell", - "abnormal number of anatomical enitites of type cell", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", + "myeloid cell", + "platelet", + "Abnormality of bone marrow cell morphology", "pectoral appendage skeleton", "abnormal blood cell morphology", - "Abnormal cellular phenotype", - "myeloid cell", + "cardiac septum", + "anucleate cell", + "oxygen accumulating cell", "abnormal brain morphology", "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of cell", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", + "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", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "multicellular organism", - "Thrombocytopenia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "heart blood vessel", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "eukaryotic cell", - "oxygen accumulating cell", - "Abnormal fundus morphology", - "Abnormality of bone marrow cell morphology", - "leukocyte", - "immune system", + "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", ], }, { @@ -16295,2588 +14021,5176 @@ def search_response(): "has_phenotype": [ "HP:0002984", "HP:0009777", - "HP:0000957", + "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", + 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+ "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", + 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"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", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", - ], - "has_phenotype_label": [ - "Hypoplasia of the radius", - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Squamous cell carcinoma", - "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", - "Vitiligo", - ], - "has_phenotype_count": 20, - "has_phenotype_closure": [ 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"HP:0040068", - "UPHENO:0002708", - "UBERON:0012141", - "UBERON:0002416", - "UBERON:0012128", - "HP:0011297", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0081435", - "HP:0000364", - "UPHENO:0021791", - "PATO:0000001", - "UBERON:0000465", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0002101", - "UPHENO:0021517", - "HP:0000001", - "UPHENO:0087950", - "HP:0002060", - "CL:0000988", - "UPHENO:0005651", - "UPHENO:0076718", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "BFO:0000004", - "UPHENO:0075195", - "UPHENO:0059829", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0000119", - "UPHENO:0076799", - "UPHENO:0080126", - "HP:0000957", - "UBERON:0000481", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "UBERON:0003113", - "HP:0001574", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000075", - "HP:0009815", - "HP:0009601", - "UBERON:0003607", - "HP:0045060", - "HP:0005927", - "GO:0031327", - "HP:0002984", - "UPHENO:0081313", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0087973", - "HP:0004322", - "UPHENO:0075878", - "HP:0009778", - "HP:0001877", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "UBERON:0006717", - "UPHENO:0001003", - "UBERON:0008785", - "HP:0009821", - "HP:0001876", - "HP:0000118", - "GO:1901360", - "UBERON:0000061", - "UBERON:0035639", - "UBERON:0013765", - "UPHENO:0080382", - "HP:0001000", - "HP:0002817", - "UPHENO:0001001", - "UBERON:0002428", - "UPHENO:0054957", - "UBERON:0010740", - "UPHENO:0088170", - "UPHENO:0081792", - "HP:0007364", - "UPHENO:0080079", - "HP:0011844", - "UBERON:0010708", - "UBERON:0000019", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0080662", + "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", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "UBERON:0002386", - "UPHENO:0087472", - "UBERON:0000020", - "UBERON:0011249", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000365", - "GO:0009987", - "UPHENO:0081204", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "UBERON:0007272", - "UPHENO:0031839", - "UBERON:0000991", - "UBERON:0005944", - "UBERON:0034925", - "UPHENO:0004459", + "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", + "HP:0000252", + "HP:0001510", + "HP:0006349", + "HP:0000125", + "HP:0005528", + "HP:0000568", + "HP:0007099", "HP:0001903", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", - "UBERON:0001442", - "UPHENO:0074584", - "BFO:0000040", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0081790", - "HP:0100547", - "UPHENO:0084763", - "UBERON:0000062", - "UPHENO:0076703", - "UPHENO:0086589", - "UPHENO:0076791", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - "UPHENO:0084457", + "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:0002896", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000153", - "UPHENO:0049873", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0085874", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0003811", - "UBERON:0002102", - "BFO:0000002", - "HP:0012639", - "UPHENO:0086633", - "UBERON:0011156", - "UBERON:0012140", - "HP:0000025", - "HP:0001172", - "UBERON:0011676", - "HP:0002973", - "CL:0001035", - "UPHENO:0002803", - "UBERON:0005172", - "UBERON:0012139", + "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", - "UPHENO:0003085", - "HP:0000153", - "HP:0007400", - "HP:0033127", - "HP:0000812", - "HP:0000240", - "UPHENO:0086635", - "HP:0040072", - "UBERON:0010912", - "CL:0000225", - "UBERON:0011582", - "UPHENO:0046707", - "UPHENO:0074575", - "HP:0002011", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0002833", - "UPHENO:0012274", + "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", - "HP:0011314", - "HP:0005773", - "HP:0000366", - "UPHENO:0001002", - "HP:0012733", - "UPHENO:0080087", - "UBERON:0003460", - "UBERON:0000026", - "UPHENO:0021561", - "UBERON:0003606", - "UBERON:0002405", - "BFO:0000001", - "UPHENO:0002635", - "HP:0000080", - "UBERON:0010712", - "UPHENO:0046540", - 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"UBERON:0004456", + "UBERON:0001423", + "UPHENO:0087924", + "UPHENO:0001002", + "UBERON:0003460", + "UPHENO:0086956", + "UBERON:0006048", + "UPHENO:0087510", "UBERON:0004381", - "UPHENO:0046624", - "GO:0031326", - "UPHENO:0065599", - "UBERON:0000466", - "UPHENO:0087907", - "UBERON:0034929", - "GO:0008150", - "UBERON:0006983", - "UPHENO:0084727", - "UPHENO:0076805", - "UPHENO:0088168", - "UPHENO:0084715", - "UPHENO:0087430", - "UBERON:0002268", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0002470", - "UBERON:0007827", - "CL:0000300", - "HP:0012130", - "UBERON:0001008", - "UPHENO:0041629", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "HP:0000085", - "UBERON:8450002", - "UBERON:0005173", - "UPHENO:0041226", - "UBERON:0011143", - "UBERON:0005177", "UBERON:0008962", - "UBERON:0001463", - "UBERON:0008907", - "HP:0012210", - "UPHENO:0087427", - "UPHENO:0050113", - "GO:0008152", + "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": [ - "Pelvic kidney", - "Ectopic kidney", - "reproductive process", - "Abnormal testis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male gamete generation", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "decreased developmental process", - "absent gamete", - "sperm", - "reproductive structure", - "decreased qualitatively developmental process", - "decreased spermatogenesis", - "external male genitalia", - "testis", - "Abnormal reproductive system morphology", - "Azoospermia", - "male germ cell", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "organism substance", - "semen", - "reproduction", - "abnormal testis morphology", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "abnormal location of anatomical entity", - "spermatogenesis", - "absent anatomical entity in the semen", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "abnormal gamete", - "Abnormality of reproductive system physiology", - "haploid cell", - "reproductive system", - "Cryptorchidism", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "abnormal internal genitalia", - "germ cell", - "gamete", - "abnormality of reproductive system physiology", - "absent germ cell", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal developmental process", - "sensory perception", - "decreased sensory perception of sound", - "abnormal sensory perception", - "Hearing abnormality", - "abnormality of anatomical entity physiology", - "ear", - "multicellular organismal process", - "sensory perception of sound", - "system process", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "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", - "Abnormality of metabolism/homeostasis", - "regulation of cellular biosynthetic 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", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "nervous system process", "abnormal nitrogen compound metabolic process", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "cellular process", - "abnormal DNA metabolic process", - "Abnormality of head or neck", - "craniocervical region", + "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", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "regional part of nervous system", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the 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 cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "main body axis", - "abnormal kidney morphology", - "Narrow palpebral fissure", - "renal system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", "multi-tissue structure", - "axial skeleton plus cranial skeleton", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "sensory system", - "abnormal nervous system", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "pigmentation", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormality of skin pigmentation", - "skeleton of limb", - "neural crest-derived structure", - "aplasia or hypoplasia of skull", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased qualitatively biological_process in independent continuant", - "absent sperm", + "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", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal integument", - "biological_process", - "obsolete multicellular organism reproduction", + "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", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", + "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", - "Abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of the thumb", + "manual digit 1 plus metapodial segment", "abnormal manus morphology", - "Neoplasm", - "digit", - "Hyperpigmentation of the skin", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", + "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", - "segment of manus", - "gamete generation", "protein-containing material entity", "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal immune system morphology", - "Absent thumb", - "abnormal autopod region morphology", - "agenesis of anatomical entity", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "skeleton of manus", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", "organism", - "Neoplasm of the skin", - "anatomical system", - "segment of autopod", - "organic cyclic compound metabolic process", - "aplastic manual digit 1", - "dentary", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal size of anatomical entity", - "material anatomical entity", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", + "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", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "facial skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "multi-limb segment region", - "endochondral element", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", + "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", - "skeletal element", - "zeugopod", - "body proper", - "central nervous system", - "Abnormality of limb bone", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased size of the anatomical entity", - "limb", - "decreased size of the multicellular organism", - "Abnormality of skull size", + "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", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "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", - "quality", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "primary metabolic process", - "Abnormality of the skin", - "forelimb endochondral element", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "abnormal craniocervical region morphology", + "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", - "lateral structure", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "compound organ", - "eye", - "skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "forelimb zeugopod", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "appendage", - "root", + "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", - "Aplasia/Hypoplasia of the radius", "endochondral bone", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", + "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", - "abnormal digit morphology", - "skeleton of lower jaw", - "subdivision of organism along appendicular axis", + "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", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "nervous system", - "forelimb zeugopod bone", + "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", - "Abnormal internal genitalia", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", + "abnormal DNA metabolic process", + "blood cell", "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "absent manual digit", + "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", - "organ system subdivision", - "decreased length of palpebral fissure", - "abnormal blood cell", - "erythrocyte", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "system", - "bone marrow cell", - "appendicular skeletal system", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "Aplasia/hypoplasia involving the skeleton", - "decreased qualitatively biological_process", - "anatomical entity", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "absent sperm in the semen", + "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", - "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", + "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", - "Abnormality of the musculoskeletal system", - "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", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "organism subdivision", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "skeletal system", - "motile cell", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "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", + "UBERON:0000982", + "HP:0006502", + "UPHENO:0076767", + "UBERON:0004770", + "UBERON:0034921", + "UPHENO:0002696", + "UBERON:0001427", + "UBERON:0009880", + "UPHENO:0080173", + "UBERON:0004302", + "UBERON:0002234", + "UBERON:0009877", + 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"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", + "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", + ], + "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", + "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", + "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", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", + "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", + "Absent thumb", "aplasia or hypoplasia of skeleton", "abnormal craniocervical region", - "abnormal mouth", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", + "limb", + "Abnormality of the upper limb", + "cell", + "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", + "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", + "primary metabolic process", + "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", + "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", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "manual digit 1", - "regulation of metabolic process", - "autopodial extension", - "abnormal face", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal central nervous system morphology", - "abnormal reproductive 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", + "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 forebrain morphology", - "abnormal nervous system morphology", - "abnormal cell morphology", - "telencephalon", - "forebrain", - "blood cell", - "head bone", + "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", - "cranial skeletal system", - "postcranial axial skeleton", - "Decreased head circumference", - "pectoral complex", - "dermatocranium", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", + "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", - "Squamous cell carcinoma", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", + "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", + "continuant", + "forelimb zeugopod", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "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", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Abnormality of the orbital region", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "orbital region", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal size of palpebral fissure", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Abnormality of the face", + "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", - "abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "abnormal hematopoietic system", - "Abnormality of the immune system", - "regulation of macromolecule biosynthetic process", + "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", - "Thrombocytopenia", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", + "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 leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", + "abnormal brain morphology", + "abnormal phenotype by ontology source", + "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", - "digestive system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manus", - "bone element hypoplasia in face", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "subdivision of tube", - "aplasia or hypoplasia of mandible", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal digit", - "lower jaw region", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", + "programmed DNA elimination", "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "abnormal male reproductive system", - "abnormal mouth morphology", - "mouth", - "abnormal mandible morphology", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "Abnormality of body height", - "tube", - "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "anatomical entity hypoplasia in face", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "Short finger", - "Short digit", - "anterior region of body", - "decreased length of manual digit 1", - "Abnormal nasal tip morphology", - "aplastic anatomical entity", - "Bulbous nose", - "Abnormal external nose morphology", - "entire sense organ system", - "abnormal external nose morphology", - "nose", - "immaterial anatomical entity", - "Abnormality of the nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "anatomical point", - "olfactory organ", - "abnormal erythrocyte morphology", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "excretory system", + "negative regulation of cellular biosynthetic process", "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "Abnormality of the kidney", - "Horseshoe kidney", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "vasculature", "abnormal renal system", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", + "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", + "Abnormal renal morphology", + "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", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", "upper urinary tract", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "concave 3-D shape anatomical entity", + "aplastic carpal bone", "abnormal renal system morphology", - "abnormal chromatin organization", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "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", + "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", + "primary circulatory organ", + "autopodial skeleton", + "abnormal skeletal joint morphology in the pectoral complex", + "digitopodium region", + "acropodium region", + "Finger aplasia", + "Abnormal proximal phalanx morphology of the hand", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system", + "abnormal musculature", + "abnormal forebrain morphology", + "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", + "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 head", + "abnormal limb morphology", + "anatomical conduit", + "abnormal skeletal joint morphology in the independent continuant", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "Short long bone", + "abnormal skull morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "abnormal biological_process", + "kidney", + "Growth delay", + "lateral structure", + "vessel", + "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", + "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 size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "absent carpal bone in the limb", + "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", + ], + }, + { + "id": "MONDO:0054748", + "category": "biolink:Disease", + "name": "Fanconi anemia, complementation group S", + "xref": ["GARD:16264", "OMIM:617883"], + "provided_by": "phenio_nodes", + "synonym": [ + "FANCS", + "Fanconi anemia, complementation GROUP S", + "Fanconi anemia, complementation group S", ], "namespace": "MONDO", "has_phenotype": [ + "HP:0040012", + "HP:0100615", + "HP:0000430", + "HP:0000750", "HP:0001249", - "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", "HP:0000252", - "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", + "HP:0000582", + "HP:0000316", + "HP:0000581", + "HP:0000527", "HP:0000568", - "HP:0007099", + "HP:0000689", + "HP:0000426", + "HP:0000294", + "HP:0001263", + "HP:0003002", + "HP:0025318", + "HP:0000215", + "HP:0030084", "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764", + "HP:0001508", + "HP:0008070", + "HP:0000280", + "HP:0001251", + "HP:0004322", + "HP:0000463", + "HP:0000189", + "HP:0001572", + "HP:0000286", + "HP:0009623", ], "has_phenotype_label": [ + "Chromosome breakage", + "Ovarian neoplasm", + "Underdeveloped nasal alae", + "Delayed speech and language development", "Intellectual disability", - "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", + "Upslanted palpebral fissure", + "Hypertelorism", + "Blepharophimosis", + "Long eyelashes", "Microphthalmia", - "Chiari type I malformation", + "Dental malocclusion", + "Prominent nasal bridge", + "Low anterior hairline", + "Global developmental delay", + "Breast carcinoma", + "Ovarian carcinoma", + "Thick upper lip vermilion", + "Clinodactyly", "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus", + "Failure to thrive", + "Sparse hair", + "Coarse facial features", + "Ataxia", + "Short stature", + "Anteverted nares", + "Narrow palate", + "Macrodontia", + "Epicanthus", + "Proximal placement of thumb", ], - "has_phenotype_count": 18, + "has_phenotype_count": 30, "has_phenotype_closure": [ - "HP:0001574", - "HP:0011121", - "UBERON:0002416", - "UPHENO:0002635", - "UBERON:0005174", - "HP:0002144", - "UBERON:0002240", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "GO:0006996", - "HP:0001939", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "UPHENO:0050845", - "HP:0003220", - "GO:0071704", - "GO:0008152", - "UPHENO:0050113", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", - "CL:0000232", - "CL:0000081", - "UPHENO:0020013", - "HP:0011282", - "UPHENO:0081601", - "UPHENO:0071309", - "HP:0007099", - "UBERON:0004732", - "UPHENO:0072814", - "HP:0001317", - "UBERON:0000063", - "HP:0002438", - "UPHENO:0069523", - "HP:0012372", - "UBERON:0004088", - "HP:0000568", - "UPHENO:0012541", - "UPHENO:0075219", - "HP:0008056", - "HP:0000478", - "HP:0000315", - "UPHENO:0068971", - "UPHENO:0021474", - "UBERON:0034923", - "UPHENO:0002948", - "HP:0025354", - "UPHENO:0087123", - "HP:0012145", - "HP:0001871", - "HP:0005528", - 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"UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UBERON:0010741", - "UBERON:0003466", - "UPHENO:0076718", - "HP:0000925", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", + "UPHENO:0081566", + "UBERON:0012354", + "HP:0009623", + "HP:0005105", + "UPHENO:0075219", + "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", + "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:0000033", + "UPHENO:0082938", + "UPHENO:0086700", + "UBERON:0001833", + "UBERON:0001834", + "UBERON:0001016", + "UPHENO:0020955", + "HP:0000177", + "UPHENO:0002915", + "HP:0040064", "UPHENO:0022529", - "HP:0009121", - "HP:0011793", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0025033", - "UBERON:0001245", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565", + "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", ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "skin of body", - "integument", - "integumental system", - "Nevus", - "Abnormal spinal cord morphology", - "spinal cord", - "Abnormal conus terminalis morphology", - "dorsum", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "abnormal organelle organization", - "programmed DNA elimination", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal cellular process", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormally formed anatomical entity", - "segmental subdivision of nervous system", - "hindbrain", - "Abnormal metencephalon morphology", - "Cerebellar malformation", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "decreased size of the anatomical entity in the independent continuant", - "orbital region", - "Abnormality of the orbital region", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "Abnormality of blood and blood-forming tissues", - "abnormal cell", - "immune system", - "disconnected anatomical group", - "abnormal immune system", - "non-connected functional system", - "Abnormal cellular phenotype", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "hemolymphoid system", - "Abnormality of the immune system", - "abnormal hematopoietic system", - "abnormal renal system morphology", - "abnormal anatomical entity topology in independent continuant", - "abnormal genitourinary system", - "abnormally localised anatomical entity", - "Ectopic kidney", - "abnormal renal system", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormally localised anatomical entity in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abdomen", - "Abnormality of the upper urinary tract", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormality of the face", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "anatomical cavity", - "abnormally decreased number of calcareous tooth", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "secondary dentition", - "abnormal mouth morphology", + "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", - "dentition", - "subdivision of tube", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "Abnormal number of teeth", - "myeloid cell", - "aplastic secondary dentition", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "subdivision of digestive tract", + "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", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Short stature", "delayed biological_process", - "Growth delay", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", "delayed growth", - "abnormal size of anatomical entity", - "Decreased head circumference", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal forebrain morphology", - "Eukaryota", + "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", - "abnormal skull morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "abnormal telencephalon morphology", - "dorsal region element", + "postcranial axial skeleton", + "cellular organisms", + "thoracic segment of trunk", + "abnormal digit", + "decreased size of the multicellular organism", "Abnormality of skull size", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "body proper", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", + "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", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "aplasia or hypoplasia of anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "Aplasia/hypoplasia involving bones of the upper limbs", - "bone marrow cell", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "limb endochondral element", - "genitourinary system", - "forelimb skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "Abnormal finger morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal appendicular skeleton morphology", - "multi-limb segment region", - "endochondral element", - "digit", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "head", - "Abnormality of limb bone", - "Neurodevelopmental delay", - "pectoral appendage", - "absent anatomical entity", - "brain ventricle", - "aplastic manual digit 1", - "abnormal growth", - "independent continuant", - "organic cyclic compound metabolic process", - "segment of autopod", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "skeletal system", "root", "appendage", - "tube", - "abnormal manual digit 1 morphology", - "organ subunit", - "Cognitive impairment", - "anatomical space", - "paired limb/fin", - "digestive system", - "upper limb segment", - "appendicular skeleton", - "abnormal anatomical entity morphology in the manus", - "manual digitopodium region", - "abnormal forelimb morphology", + "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", - "abnormal hematopoietic system morphology", + "Deviation of the thumb", "abnormal dentition", - "Abnormal nervous system physiology", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "cerebrospinal fluid", - "Abnormal cell morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", + "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", + "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", + "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", - "abnormal upper urinary tract", "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", + "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", + "process", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "eyelid", + "eye", + "scalp", "musculoskeletal system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of mental function", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Pelvic kidney", + "abnormal cellular metabolic process", + "Coarse facial features", + "material anatomical entity", "abnormality of nervous system physiology", - "skeleton of manus", + "internal female genitalia", + "Abnormal cellular physiology", + "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", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abnormal ala of nose morphology", + "Blepharophimosis", + "Intellectual disability", + "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", + "forebrain", + "Abnormal nasal morphology", + "negative regulation of macromolecule biosynthetic process", "lateral structure", - "digestive tract", - "process", - "hematopoietic system", + "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", + "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", + "regulation of macromolecule biosynthetic process", "multicellular organism", - "absent anatomical entity in the multicellular organism", - "agenesis of anatomical entity", - "abnormal face", + "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", + "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", - "Bone marrow hypocellularity", - "skeletal element", - "zeugopod", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of the hand", - "Abnormal appendicular skeleton morphology", - "Delayed ability to walk", + "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", + "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", - "abnormal cerebellum morphology", - "skeleton", - "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", + "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", + "face", + "abnormal orbital region", + "Abnormal eyelash morphology", + "axial skeletal system", + "Growth abnormality", + "upper lip", "nervous system", - "abnormal limb bone morphology", - "cellular process", - "Abnormal digit morphology", - "decreased size of the anatomical entity", - "cognition", - "ventricular system of brain", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "organism", - "autopod region", - "biological_process", - "Finger aplasia", - "entire sense organ system", - "continuant", - "manual digit 1 plus metapodial segment", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal skeletal system morphology", - "protein-containing material entity", + "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", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "organelle organization", + "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", - "segment of manus", + "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", "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "forelimb zeugopod", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "digit plus metapodial segment", + "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", - "material anatomical entity", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "radius endochondral element", + "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", + "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", - "biological regulation", - "Abnormality of globe size", - "Intellectual disability", + "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", + "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", + "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", - "bone marrow", + "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", - "Aplasia/hypoplasia of the extremities", - "forelimb", - "Abnormal skeletal morphology", - "aplasia or hypoplasia of manual digit", - "digit 1", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "postcranial axial skeleton", - "bone of free limb or fin", - "abnormal autopod region morphology", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "autopodial skeleton", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "organism subdivision", - "occurrent", - "organ", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", "abnormal head", + "decreased width of the anatomical entity in independent continuant", + "integumentary adnexa", + "jaw region", "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "trunk region element", - "pectoral complex", - "eye", - "Opisthokonta", - "paired limb/fin segment", + "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", - "skeleton of pectoral complex", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "abnormal spatial pattern of strand of hair", + "abnormal hairline", + "Narrow palate", + "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", - "abnormal forelimb zeugopod bone", - "abnormal manual digit morphology in the independent continuant", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "Microphthalmia", - "abnormal skeletal system", - "macromolecule metabolic process", - "appendage girdle complex", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", + "appendicular skeleton", + "anatomical conduit", "abnormal limb morphology", - "forelimb zeugopod skeleton", - "mesoderm-derived structure", - "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", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "Chiari malformation", - "anatomical conduit", - "Abnormality of the head", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "craniocervical region", - "abnormal long bone morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "arm bone", - "ventricle of nervous system", - "axial skeletal system", - "Radial dysplasia", - "Abnormal long bone morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "obsolete cell", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "dysgenesis of the anatomical entity", + "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", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "trunk", - "Abnormality of the vertebral column", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal bone structure", - "abnormal vertebral column", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "anus", - "protein-DNA complex organization", - "Abnormal anus morphology", - "DNA metabolic process", - "orifice", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "immaterial anatomical entity", - "anus atresia", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Chiari type I malformation", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Metazoa", + "abnormal number of anatomical enitites of type strand of hair", + "decreased qualitatively response to stimulus", + "deviation of anatomical entity", + "Ataxia", ], }, ], diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json index a8db384e4..2f1f833ad 100644 --- a/frontend/fixtures/association-counts.json +++ b/frontend/fixtures/association-counts.json @@ -2,7 +2,7 @@ "items": [ { "label": "Phenotype to Disease", - "count": 3959, + "count": 4012, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -14,6 +14,16 @@ "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" } ] } diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json index a547cef92..2bef88f1c 100644 --- a/frontend/fixtures/association-table.json +++ b/frontend/fixtures/association-table.json @@ -1,159 +1,335 @@ { "limit": 5, "offset": 0, - "total": 3959, + "total": 4012, "items": [ { - "id": "uuid:0f88c0b8-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98bea-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0958233", - "original_subject": "OMIM:620725", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0008029", - "MONDO:0000001", - "MONDO:0016106", - "BFO:0000002", - "MONDO:0958233", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", + "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0002320", + "BFO:0000002", "MONDO:0003847", - "MONDO:0700096" + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0000355", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001" ], - "subject_label": "Bethlem myopathy 1B", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "Bethlem myopathy", - "hereditary skeletal muscle disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "human disease", "entity", - "specifically dependent continuant", - "progressive muscular dystrophy", - "disease", - "Bethlem myopathy 1B", + "hereditary skeletal muscle disorder", "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", - "human disease", - "myopathy" + "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0006094", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", + "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:0002332", - "BFO:0000001", - "UPHENO:0002816", - "PATO:0000001", - "HP:0000001", - "HP:0000118", - "UBERON:0000062", - "UPHENO:0082875", - "UPHENO:0080555", - "HP:0011804", - "UBERON:0000467", - "UBERON:0005090", + "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:0076723", + "UPHENO:0002905", + "HP:0034430", + "HP:0000924", + "HP:0033127", + "HP:0040068", + "UPHENO:0002880", + "UPHENO:0002830", "UBERON:0000468", "UBERON:0011216", - "HP:0003011", + "HP:0000001", + "PATO:0000001", + "UBERON:0010708", + "UBERON:0010712", + "UBERON:0002091", + "UBERON:0000982", + "UPHENO:0086633", + "UPHENO:0077421", + "UPHENO:0001002", + "HP:0006094", + "UPHENO:0002964", + "UBERON:0001062", + "UBERON:0002529", + "UBERON:0003657", + "HP:0001167", + "HP:0001382", + "HP:0000118", "UPHENO:0002536", - "UBERON:0000383", - "UBERON:0001015", + "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:0002708", + "HP:0430046", + "UBERON:0000465", "UPHENO:0001005", - "UPHENO:0001002", + "UPHENO:0084763", + "UPHENO:0076727", + "UPHENO:0020584", + "UBERON:0011582", + "UBERON:0015061", + "UBERON:0004375", + "UBERON:0002102", + "UPHENO:0084766", + "HP:0005922", + "UPHENO:0087006", + "UPHENO:0002332", + "UPHENO:0002896", + "UPHENO:0081440", + "UPHENO:0086635", "BFO:0000040", - "UBERON:0001062", - "UBERON:0010000", - "UBERON:0001630", + "UBERON:0000467", + "UBERON:0004120", + "UBERON:0002389", + "UBERON:0010740", + "UBERON:0002513", + "UBERON:0001460", + "UPHENO:0082875", + "HP:0002813", + "UBERON:0034925", + "UBERON:0004708", + "UBERON:0000075", + "UBERON:0010912", "UPHENO:0075696", - "BFO:0000020", - "BFO:0000004", - "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002320", - "HP:0003701", - "UPHENO:0080556", - "UBERON:0000465" + "UPHENO:0076943", + "UPHENO:0084448", + "HP:0011844", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0002470", + "UBERON:0008785", + "UBERON:0012139", + "UBERON:0003839" ], - "object_label": "Proximal muscle weakness", + "object_label": "Finger joint hypermobility", "object_closure_label": [ - "phenotype", - "abnormal musculature", - "abnormality of muscle organ physiology", - "multicellular anatomical structure", - "muscle organ", - "Abnormality of the musculature", - "independent continuant", - "All", - "entity", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "Abnormal muscle physiology", - "abnormal anatomical entity", + "abnormal appendicular skeleton morphology", "specifically dependent continuant", - "continuant", - "abnormality of anatomical entity physiology", - "continuant", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "multicellular organism", - "organ system subdivision", - "abnormality of anatomical entity physiology", + "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", - "anatomical entity", - "Muscle weakness", + "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", - "phenotype by ontology source", + "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", - "musculature of body", - "musculature", - "quality", - "Phenotypic abnormality", - "decreased muscle organ strength", - "anatomical structure", - "Proximal muscle weakness", + "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", + "digit", + "Abnormality of the hand", + "Abnormal skeletal morphology", + "abnormality of anatomical entity physiology", + "abnormal limb bone", + "Abnormality of limbs", "material anatomical entity", + "pectoral complex", + "bone element", + "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", + "limb skeleton subdivision", + "appendicular skeleton", + "skeletal joint", + "Abnormal hand morphology", + "abnormal autopod region morphology", + "phenotype by ontology source", + "Small joint hypermobilty", + "appendage girdle complex", + "subdivision of skeletal system", + "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", - "muscle structure" + "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" ], "object_taxon": null, "object_taxon_label": null, @@ -161,7 +337,7 @@ "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 3, + "evidence_count": 6, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], @@ -171,25 +347,43 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 11, - "has_total": 11, + "has_count": 7, + "has_total": 7, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0006094", "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:16075202", + "PMID:11381124", + "PMID:11506412", + "PMID:20729548", + "PMID:20106987" + ], "publications_links": [ { - "id": "PMID:11865138", - "url": "http://identifiers.org/pubmed/11865138" + "id": "PMID:16075202", + "url": "http://identifiers.org/pubmed/16075202" }, { - "id": "PMID:17886299", - "url": "http://identifiers.org/pubmed/17886299" + "id": "PMID:11381124", + "url": "http://identifiers.org/pubmed/11381124" + }, + { + "id": "PMID:11506412", + "url": "http://identifiers.org/pubmed/11506412" + }, + { + "id": "PMID:20729548", + "url": "http://identifiers.org/pubmed/20729548" + }, + { + "id": "PMID:20106987", + "url": "http://identifiers.org/pubmed/20106987" } ], "frequency_qualifier": null, @@ -228,260 +422,157 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0] + "direction": "outgoing" }, { - "id": "uuid:0b39d5c5-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98be5-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013049", - "original_subject": "OMIM:612937", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "MONDO:0005500", - "MONDO:0005066", - "MONDO:0013049", - "MONDO:0018276", - "MONDO:0015286", - "MONDO:0024322", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0017749", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", - "MONDO:0003847", + "MONDO:0700223", "MONDO:0700096", - "MONDO:0019052" + "BFO:0000001", + "MONDO:0002320", + "BFO:0000002", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0000355", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001" ], - "subject_label": "DPM3-congenital disorder of glycosylation", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "hereditary neuromuscular disease", - "disorder of glycosylation", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "disorder of multiple glycosylation", - "hereditary skeletal muscle disorder", - "congenital disorder of glycosylation type I", - "metabolic disease", - "DPM3-congenital disorder of glycosylation", - "continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "congenital nervous system disorder", + "hereditary neuromuscular disease", + "human disease", "entity", - "muscular dystrophy-dystroglycanopathy", - "specifically dependent continuant", - "congenital disorder of glycosylation", - "disease", + "hereditary skeletal muscle disorder", "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", - "human disease", - "inborn errors of metabolism", - "myopathy" + "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0001252", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0077821", - "CHEBI:33302", - "CHEBI:33304", + "UPHENO:0082555", "BFO:0000002", - "PR:000050567", - "CHEBI:33582", - "CHEBI:16670", - "HP:0000001", - "HP:0011021", - "HP:0000118", "UPHENO:0001003", - "UBERON:0000178", - "HP:0004364", - "HP:0010876", - "HP:0003236", - "GO:0008152", - "UBERON:0000467", - "CHEBI:33579", - "UPHENO:0051668", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000468", - "UPHENO:0001001", - "UPHENO:0046284", - "BFO:0000001", - "HP:0001871", - "UPHENO:0002536", - "CHEBI:50860", - "HP:0430071", - "UPHENO:0004459", - "BFO:0000003", + "UPHENO:0002320", + "UPHENO:0002816", "BFO:0000002", - "UBERON:0002390", - "UBERON:0000179", - "GO:0002185", - "CHEBI:16541", + "UBERON:0011216", + "UPHENO:0075696", + "UPHENO:0082557", + "UPHENO:0001001", + "HP:0011804", + "HP:0033127", + "UBERON:0000468", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "HP:0003808", "UPHENO:0001002", - "UPHENO:0081547", - "UPHENO:0077826", - "HP:0032180", - "HP:0033405", + "BFO:0000001", + "BFO:0000040", "UBERON:0001062", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0001630", + "UBERON:0000465", "UPHENO:0001005", "BFO:0000020", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0051804", - "GO:0008150", - "BFO:0000040", - "UBERON:0010000", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0076289", - "HP:0001939", "BFO:0000001", - "BFO:0000015", - "BFO:0000004", - "GO:1902494", - "CHEBI:36357", - "GO:0061695", - "CHEBI:15841", - "UPHENO:0076286", - "HP:0040081", - "PATO:0000001", - "UPHENO:0051612", + "UPHENO:0002332", + "HP:0001252", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", "UBERON:0000061", - "UBERON:0000463", - "GO:1990234", - "CHEBI:33839", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UBERON:0004120", - "UBERON:0006314", - "UPHENO:0051801", - "GO:0005575", - "CHEBI:24431", - "UBERON:0000465" + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000062" ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Hypotonia", "object_closure_label": [ + "abnormal anatomical entity", + "decreased muscle organ tone", "entity", - "carbon group molecular entity", - "peptide", - "abnormal hematopoietic system", - "biological_process", - "material entity", - "multicellular anatomical structure", - "creatine kinase complex", - "protein polypeptide chain", - "p-block molecular entity", - "hemolymphoid system", - "abnormal chemical entity level", - "process", - "independent continuant", - "All", - "Abnormality of circulating enzyme level", - "pnictogen molecular entity", - "chalcogen molecular entity", + "decreased anatomical entity tone", + "abnormal musculature", + "quality", + "phenotype", "Phenotypic abnormality", - "Abnormal circulating protein concentration", - "Elevated circulating creatine kinase concentration", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "abnormal role independent continuant level", - "abnormal blood chemical entity level", - "anatomical structure", - "organism substance", - "abnormal independent continuant chemical entity level", - "continuant", "entity", - "occurrent", - "continuant", - "hematopoietic system", - "haemolymphatic fluid", - "specifically dependent continuant", - "catalytic complex", - "polyatomic entity", - "organic molecular entity", - "abnormal phenotype by ontology source", - "abnormal anatomical entity", - "protein-containing material entity", + "organ system subdivision", + "Abnormal muscle tone", + "Abnormality of the musculoskeletal system", "multicellular organism", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of blood and blood-forming tissues", - "anatomical entity", - "phenotype", - "abnormal role blood level", - "Abnormal circulating creatine kinase concentration", - "quality", - "abnormal blood protein polypeptide chain level", - "blood", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "abnormal independent continuant nitrogen molecular entity level", + "All", + "specifically dependent continuant", + "continuant", + "organ", + "independent continuant", + "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", + "continuant", "phenotype by ontology source", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "Abnormal circulating organic compound concentration", + "musculature of body", + "musculature", + "abnormal anatomical entity", "Phenotypic abnormality", - "abnormal independent continuant protein polypeptide chain level", - "protein-containing complex", - "molecular entity", - "transferase complex", - "macromolecule", - "carboxamide", - "organic amino compound", - "primary amide", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "cellular_component", - "chemical entity", - "material anatomical entity", - "abnormal multicellular organism chemical entity level", - "Abnormality of metabolism/homeostasis", "anatomical system", - "main group molecular entity" + "muscle structure", + "abnormality of anatomical entity physiology", + "abnormal phenotype by ontology source", + "material entity", + "anatomical entity" ], "object_taxon": null, "object_taxon_label": null, @@ -489,7 +580,7 @@ "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 3, + "evidence_count": 6, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], @@ -499,25 +590,43 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 2, - "has_total": 2, + "has_count": 5, + "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001252", "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:19576565", "PMID:28803818"], + "publications": [ + "PMID:16075202", + "PMID:11381124", + "PMID:11506412", + "PMID:20729548", + "PMID:20106987" + ], "publications_links": [ { - "id": "PMID:19576565", - "url": "http://identifiers.org/pubmed/19576565" + "id": "PMID:16075202", + "url": "http://identifiers.org/pubmed/16075202" + }, + { + "id": "PMID:11381124", + "url": "http://identifiers.org/pubmed/11381124" }, { - "id": "PMID:28803818", - "url": "http://identifiers.org/pubmed/28803818" + "id": "PMID:11506412", + "url": "http://identifiers.org/pubmed/11506412" + }, + { + "id": "PMID:20729548", + "url": "http://identifiers.org/pubmed/20729548" + }, + { + "id": "PMID:20106987", + "url": "http://identifiers.org/pubmed/20106987" } ], "frequency_qualifier": null, @@ -556,166 +665,229 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0] + "direction": "outgoing" }, { - "id": "uuid:0dc5ac14-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98c06-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009676", - "original_subject": "OMIM:253601", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", - "MONDO:0019056", - "BFO:0000001", "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0009676", - "MONDO:0016145", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", + "MONDO:0019950", + "MONDO:0700223", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0002320", + "BFO:0000002", "MONDO:0003847", - "MONDO:0016971", - "MONDO:0016139", - "MONDO:0700096" + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0000355", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "muscle tissue disorder", - "muscular dystrophy", - "disease", + "hereditary neuromuscular disease", + "human disease", + "entity", "hereditary skeletal muscle disorder", - "autosomal recessive disease", - "continuant", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "Ullrich congenital muscular dystrophy 1B", "skeletal muscle disorder", "neuromuscular disease", - "qualitative or quantitative defects of dysferlin", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", "disease", - "autosomal recessive limb-girdle muscular dystrophy type 2B", - "hereditary neurological disease", - "musculoskeletal system disorder", + "muscular dystrophy", + "congenital myopathy", "realizable entity", - "autosomal genetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", "myopathy", - "entity" + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0003557", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", + "UBERON:0000465", + "RO:0002577", + "CL:0000187", + "UBERON:0014892", + "UBERON:0002036", "BFO:0000002", - "UPHENO:0002332", - "BFO:0000001", + "UPHENO:0085135", + "HP:0011805", "UPHENO:0002816", - "PATO:0000001", - "HP:0000001", - "HP:0000118", - "UBERON:0000062", - "UPHENO:0082875", - "UPHENO:0080555", - "HP:0011804", - "UBERON:0000467", - "UBERON:0005090", + "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", "UBERON:0000468", "UBERON:0011216", + "HP:0000001", + "HP:0004303", "HP:0003011", - "UPHENO:0002536", - "UBERON:0000383", - "UBERON:0001015", - "BFO:0000002", - "UPHENO:0001005", + "UPHENO:0085099", + "PATO:0000001", + "CL:0002372", + "CL:0000737", + "UBERON:0001134", + "UPHENO:0067691", "UPHENO:0001002", - "BFO:0000040", "UBERON:0001062", + "UPHENO:0080626", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000004", + "UPHENO:0015280", + "BFO:0000002", + "HP:0012084", "UBERON:0010000", + "CL:0002242", + "CL:0000188", + "CL:0000211", + "CL:0000183", "UBERON:0001630", - "UPHENO:0075696", + "UBERON:0002385", + "BFO:0000001", + "GO:0005575", + "UPHENO:0001005", "BFO:0000020", - "BFO:0000004", - "HP:0001324", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002320", - "HP:0003701", - "UPHENO:0080556", - "UBERON:0000465" + "UPHENO:0086457", + "UPHENO:0020584", + "UPHENO:0085097", + "UPHENO:0087047", + "UPHENO:0006889", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0000467", + "CL:0000000", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0086172", + "HP:0025354", + "UPHENO:0088180", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0075696", + "UBERON:0000479", + "UBERON:0000062" ], - "object_label": "Proximal muscle weakness", + "object_label": "Increased variability in muscle fiber diameter", "object_closure_label": [ - "phenotype", + "abnormal size of skeletal muscle fiber", + "anatomical structure", "abnormal musculature", - "abnormality of muscle organ physiology", - "multicellular anatomical structure", - "muscle organ", - "Abnormality of the musculature", - "independent continuant", - "All", - "entity", - "abnormal phenotype by ontology source", + "quality", + "phenotype", "Phenotypic abnormality", - "Abnormal muscle physiology", - "abnormal anatomical entity", - "specifically dependent continuant", - "continuant", - "abnormality of anatomical entity physiology", - "continuant", - "decreased anatomical entity strength", - "abnormal anatomical entity", - "multicellular organism", - "organ system subdivision", - "abnormality of anatomical entity physiology", "material entity", - "anatomical entity", - "Muscle weakness", + "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", + "multicellular anatomical structure", + "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", - "quality", - "Phenotypic abnormality", - "decreased muscle organ strength", - "anatomical structure", - "Proximal muscle weakness", + "abnormal anatomical entity", + "abnormal muscle organ morphology", "material anatomical entity", - "entity", + "system", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the independent continuant", + "independent continuant", "anatomical system", - "muscle structure" + "cell", + "muscle structure", + "skeletal musculature", + "abnormal cell", + "entity", + "abnormal phenotype by ontology source", + "Increased variability in muscle fiber diameter", + "abnormal size of anatomical entity", + "anatomical entity" ], "object_taxon": null, "object_taxon_label": null, @@ -723,7 +895,7 @@ "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 3, + "evidence_count": 4, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], @@ -733,25 +905,29 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 32, - "has_total": 32, + "has_count": 4, + "has_total": 4, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0958235||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:9731527", "PMID:9009996"], + "publications": ["PMID:16075202", "PMID:11381124", "PMID:20106987"], "publications_links": [ { - "id": "PMID:9731527", - "url": "http://identifiers.org/pubmed/9731527" + "id": "PMID:16075202", + "url": "http://identifiers.org/pubmed/16075202" }, { - "id": "PMID:9009996", - "url": "http://identifiers.org/pubmed/9009996" + "id": "PMID:11381124", + "url": "http://identifiers.org/pubmed/11381124" + }, + { + "id": "PMID:20106987", + "url": "http://identifiers.org/pubmed/20106987" } ], "frequency_qualifier": null, @@ -790,296 +966,143 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0] + "direction": "outgoing" }, { - "id": "uuid:093061ab-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:22c98be7-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0958235", + "original_subject": "OMIM:620727", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0016140", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "MONDO:0958235", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0700223", "MONDO:0700096", - "BFO:0000001" + "BFO:0000001", + "MONDO:0002320", + "BFO:0000002", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0000355", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "Ullrich congenital muscular dystrophy 1B", "subject_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", + "specifically dependent continuant", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", + "hereditary neuromuscular disease", + "human disease", + "entity", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "autosomal recessive disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "Ullrich congenital muscular dystrophy 1B", "skeletal muscle disorder", "neuromuscular disease", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", + "muscular dystrophy", + "congenital myopathy", "realizable entity", - "familial dilated cardiomyopathy", - "autosomal genetic disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", - "myopathy" + "myopathy", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", + "hereditary disease", + "disease", + "continuant", + "disposition", + "muscle tissue disorder" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0008981", + "object": "HP:0001270", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0065599", - "UPHENO:0015280", - "UPHENO:0076692", "BFO:0000002", - "HP:0002814", + "UPHENO:0001003", + "HP:0012638", "BFO:0000002", + "UBERON:0001016", + "UPHENO:0004523", "BFO:0000001", - "RO:0002577", - "PR:000050567", - "UBERON:0014892", - "UBERON:0004466", - "UBERON:0003823", - "UBERON:0004256", - "UBERON:0006067", - "UPHENO:0002816", - "UBERON:0000026", - "HP:0000001", - "UPHENO:0002644", - "HP:0000118", - "UBERON:0000475", - "UBERON:0000062", - "UPHENO:0084489", - "UBERON:0000467", - "UBERON:0005090", - "UBERON:0018254", - "UPHENO:0075952", - "HP:0030236", - "UPHENO:0084715", - "BFO:0000001", - "UBERON:0000061", - "UBERON:0000468", - "UBERON:0011216", "UPHENO:0001001", - "HP:0008981", - "HP:0003011", - "HP:0001437", - "UPHENO:0002536", - "HP:0040064", - "UBERON:0000383", - "UBERON:0001015", - "UBERON:0010890", - "UBERON:0003661", - "UPHENO:0084535", - "UPHENO:0075777", - "HP:0011805", - "HP:0003712", - "UPHENO:0002647", - "UBERON:0002103", + "HP:0012759", + "UBERON:0000468", + "HP:0000001", + "PATO:0000001", "UPHENO:0001002", - "UPHENO:0076710", + "HP:0000707", + "BFO:0000040", "UBERON:0001062", - "UBERON:0010538", - "UBERON:0007271", - "UBERON:0014792", + "HP:0001270", + "HP:0000118", + "UPHENO:0002536", + "BFO:0000001", + "BFO:0000004", + "UBERON:0010000", + "UPHENO:0002433", + "UBERON:0000465", "UPHENO:0001005", - "HP:0009127", - "UPHENO:0084763", "BFO:0000020", - "UPHENO:0020584", - "HP:0008968", - "UBERON:0000978", - "UBERON:0002529", - "UBERON:0007270", - "UBERON:0004480", - "UBERON:0014795", - "UBERON:0003663", - "UPHENO:0084767", - "BFO:0000040", - "UBERON:0010000", - "UBERON:0001630", - "HP:0002981", - "UBERON:0015212", - "UBERON:0010709", - "UBERON:0006058", - "HP:0001430", - "UPHENO:0001072", - "HP:0033127", - "UPHENO:0001003", - "PATO:0000001", - "UPHENO:0002830", - "UBERON:0004708", - "UBERON:0010707", - "UBERON:0000154", - "UBERON:0010758", - "UBERON:0008784", - "UBERON:0002471", - "UBERON:0004482", - "UBERON:0001383", + "UPHENO:0002332", + "UBERON:0000467", + "UPHENO:0082875", + "UBERON:0000061", "UPHENO:0075696", - "UPHENO:0075195", - "UPHENO:0003070", - "BFO:0000004", - "UBERON:0002101", - "UBERON:0004709", - "UBERON:0000465" + "HP:0012758" ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Motor delay", "object_closure_label": [ - "Abnormality of the lower limb", - "abnormal musculature", - "Abnormality of the musculature of the lower limbs", - "skeletal muscle organ, vertebrate", - "musculature of leg", - "hindlimb zeugopod", - "hindlimb zeugopod muscle", - "musculature of hindlimb zeugopod", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "abnormal leg", - "material entity", - "multicellular anatomical structure", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal musculature of limb", - "continuant", - "muscle organ", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the musculature", - "abnormal anatomical entity morphology", - "appendage", - "All", - "abnormal musculature of lower limb", - "abnormal anatomical entity morphology in the pelvic complex", - "entity", + "abnormality of nervous system physiology", + "abnormal nervous system", + "quality", + "phenotype", "Phenotypic abnormality", - "hypertrophic multicellular anatomical structure", - "limb", - "pelvic appendage", - "multi-limb segment region", - "Abnormality of the calf", - "paired limb/fin", - "posterior region of body", - "subdivision of organism along appendicular axis", - "abnormal hindlimb zeugopod", - "continuant", - "hindlimb", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "lateral structure", - "pelvic complex muscle", - "limb muscle", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal anatomical entity", - "Abnormality of limbs", - "system", - "protein-containing material entity", + "Abnormality of the nervous system", + "nervous system", "multicellular organism", - "organ system subdivision", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "anatomical entity", - "phenotype", - "Calf muscle hypertrophy", - "Abnormality of the calf musculature", - "increased size of the anatomical entity", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "quality", - "abnormal limb", - "organism subdivision", - "organ", - "musculature of body", - "musculature", - "leg", - "limb segment", - "pelvic appendage musculature", - "musculature of limb", - "pelvic appendage muscle", - "hindlimb muscle", + "All", + "specifically dependent continuant", + "continuant", "abnormal anatomical entity", - "pelvic complex", - "paired limb/fin segment", - "appendage musculature", - "musculature of pelvic complex", - "hypertrophic pelvic complex muscle", - "Phenotypic abnormality", + "multicellular anatomical structure", + "Abnormal nervous system physiology", "anatomical structure", - "appendage girdle complex", - "lower limb segment", - "zeugopod", - "musculature of lower limb", - "muscle of leg", - "abnormal muscle organ morphology", + "abnormality of anatomical entity physiology", "material anatomical entity", - "abnormal size of anatomical entity", + "Motor delay", + "Neurodevelopmental abnormality", + "continuant", "entity", + "phenotype by ontology source", + "abnormal anatomical entity", + "Phenotypic abnormality", "independent continuant", "anatomical system", - "muscle structure", - "skeletal musculature" + "abnormality of anatomical entity physiology", + "entity", + "abnormal phenotype by ontology source", + "Neurodevelopmental delay", + "material entity", + "anatomical entity" ], "object_taxon": null, "object_taxon_label": null, @@ -1087,7 +1110,7 @@ "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 3, + "evidence_count": 4, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], @@ -1097,25 +1120,29 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 5, - "has_total": 5, + "has_count": 3, + "has_total": 3, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "grouping_key": "MONDO:0958235||biolink:has_phenotype|HP:0001270", "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:8069911", "PMID:8538707"], + "publications": ["PMID:16075202", "PMID:11506412", "PMID:20729548"], "publications_links": [ { - "id": "PMID:8069911", - "url": "http://identifiers.org/pubmed/8069911" + "id": "PMID:16075202", + "url": "http://identifiers.org/pubmed/16075202" }, { - "id": "PMID:8538707", - "url": "http://identifiers.org/pubmed/8538707" + "id": "PMID:11506412", + "url": "http://identifiers.org/pubmed/11506412" + }, + { + "id": "PMID:20729548", + "url": "http://identifiers.org/pubmed/20729548" } ], "frequency_qualifier": null, @@ -1154,274 +1181,159 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0] + "direction": "outgoing" }, { - "id": "uuid:093061a4-38d8-11ef-8dc1-0579903a0a12", + "id": "uuid:2360805d-400a-11ef-89e7-6fe0be41fbbf", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0958233", + "original_subject": "OMIM:620725", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0020121", - "MONDO:0004995", - "MONDO:0016140", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0005021", - "MONDO:0020120", - "MONDO:0019056", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0004994", - "MONDO:0016333", - "MONDO:0000001", - "MONDO:0016106", - "MONDO:0000591", - "BFO:0000002", - "MONDO:0005217", - "MONDO:0015152", - "MONDO:0000429", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0006025", + "BFO:0000002", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0019952", + "BFO:0000017", "MONDO:0100545", "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0016971", - "MONDO:0100547", - "MONDO:0016139", + "MONDO:0019950", + "MONDO:0008029", + "MONDO:0700223", "MONDO:0700096", - "BFO:0000001" + "MONDO:0002320", + "BFO:0000001", + "MONDO:0003847", + "MONDO:0020121", + "MONDO:0016106", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0958233" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "Bethlem myopathy 1B", "subject_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "limb-girdle muscular dystrophy", - "disposition", - "hereditary disease", "nervous system disorder", - "heart disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "familial cardiomyopathy", - "disease", - "dilated cardiomyopathy", - "cardiomyopathy", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", - "intrinsic cardiomyopathy", - "autosomal recessive disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "Bethlem myopathy", + "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "specifically dependent continuant", - "progressive muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy", "disease", - "hereditary neurological disease", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", + "muscular dystrophy", + "congenital myopathy", "realizable entity", - "familial dilated cardiomyopathy", - "autosomal genetic disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", + "continuant", + "myopathy", + "congenital nervous system disorder", "entity", - "myopathy" + "progressive muscular dystrophy", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "Bethlem myopathy 1B" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0003701", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0077821", - "CHEBI:33302", - "CHEBI:33304", + "UPHENO:0002320", + "UPHENO:0002816", "BFO:0000002", - "PR:000050567", - "CHEBI:33582", - "CHEBI:16670", - "HP:0000001", - "HP:0011021", - "HP:0000118", + "UPHENO:0075696", + "BFO:0000001", + "UBERON:0000061", + "HP:0011804", + "HP:0001324", + "HP:0033127", "UPHENO:0001003", - "UBERON:0000178", - "HP:0004364", - "HP:0010876", - "HP:0003236", - "GO:0008152", - "UBERON:0000467", - "CHEBI:33579", - "UPHENO:0051668", - "GO:0032991", - "CHEBI:23367", "UBERON:0000468", - "UPHENO:0001001", - "UPHENO:0046284", + "UBERON:0011216", + "HP:0000001", + "HP:0003011", + "PATO:0000001", + "UPHENO:0001005", + "UPHENO:0001002", + "UPHENO:0080556", "BFO:0000001", - "HP:0001871", + "BFO:0000040", + "UBERON:0001062", + "HP:0000118", "UPHENO:0002536", - "CHEBI:50860", - "HP:0430071", - "UPHENO:0004459", - "BFO:0000003", + "UPHENO:0001001", "BFO:0000002", - "UBERON:0002390", - "UBERON:0000179", - "GO:0002185", - "CHEBI:16541", - "UPHENO:0001002", - "UPHENO:0081547", - "UPHENO:0077826", - "HP:0032180", - "HP:0033405", - "UBERON:0001062", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", - "UPHENO:0001005", - "BFO:0000020", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0051804", - "GO:0008150", - "BFO:0000040", - "UBERON:0010000", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0076289", - "HP:0001939", - "BFO:0000001", - "BFO:0000015", + "UPHENO:0080555", "BFO:0000004", - "GO:1902494", - "CHEBI:36357", - "GO:0061695", - "CHEBI:15841", - "UPHENO:0076286", - "HP:0040081", - "PATO:0000001", - "UPHENO:0051612", - "UBERON:0000061", - "UBERON:0000463", - "GO:1990234", - "CHEBI:33839", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UBERON:0004120", - "UBERON:0006314", - "UPHENO:0051801", - "GO:0005575", - "CHEBI:24431", - "UBERON:0000465" + "UBERON:0010000", + "UBERON:0001630", + "BFO:0000020", + "UBERON:0000465", + "HP:0003701", + "UPHENO:0002332", + "UBERON:0000467", + "UBERON:0005090", + "UPHENO:0082875", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0000062" ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "entity", - "carbon group molecular entity", - "peptide", - "abnormal hematopoietic system", - "biological_process", - "material entity", - "multicellular anatomical structure", - "creatine kinase complex", - "protein polypeptide chain", - "p-block molecular entity", - "hemolymphoid system", - "abnormal chemical entity level", - "process", - "independent continuant", - "All", - "Abnormality of circulating enzyme level", - "pnictogen molecular entity", - "chalcogen molecular entity", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", - "Elevated circulating creatine kinase concentration", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "abnormal role independent continuant level", - "abnormal blood chemical entity level", + "abnormal anatomical entity", + "specifically dependent continuant", "anatomical structure", - "organism substance", - "abnormal independent continuant chemical entity level", - "continuant", + "abnormal musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", "entity", - "occurrent", - "continuant", - "hematopoietic system", - "haemolymphatic fluid", - "specifically dependent continuant", - "catalytic complex", - "polyatomic entity", - "organic molecular entity", "abnormal phenotype by ontology source", - "abnormal anatomical entity", - "protein-containing material entity", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", "multicellular organism", - "Abnormal circulating nitrogen compound concentration", - "Abnormality of blood and blood-forming tissues", - "anatomical entity", + "organ system subdivision", + "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", + "Proximal muscle weakness", + "musculature of body", + "musculature", + "decreased anatomical entity strength", + "abnormal anatomical entity", "phenotype", - "abnormal role blood level", - "Abnormal circulating creatine kinase concentration", - "quality", - "abnormal blood protein polypeptide chain level", - "blood", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "abnormal independent continuant nitrogen molecular entity level", - "phenotype by ontology source", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "Abnormal circulating organic compound concentration", "Phenotypic abnormality", - "abnormal independent continuant protein polypeptide chain level", - "protein-containing complex", - "molecular entity", - "transferase complex", - "macromolecule", - "carboxamide", - "organic amino compound", - "primary amide", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "cellular_component", - "chemical entity", - "material anatomical entity", - "abnormal multicellular organism chemical entity level", - "Abnormality of metabolism/homeostasis", "anatomical system", - "main group molecular entity" + "muscle structure", + "abnormality of anatomical entity physiology", + "continuant", + "entity", + "material entity", + "anatomical entity" ], "object_taxon": null, "object_taxon_label": null, @@ -1439,25 +1351,25 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 5, - "has_total": 5, + "has_count": 11, + "has_total": 11, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0958233||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:8069911", "PMID:8538707"], + "publications": ["PMID:11865138", "PMID:17886299"], "publications_links": [ { - "id": "PMID:8069911", - "url": "http://identifiers.org/pubmed/8069911" + "id": "PMID:11865138", + "url": "http://identifiers.org/pubmed/11865138" }, { - "id": "PMID:8538707", - "url": "http://identifiers.org/pubmed/8538707" + "id": "PMID:17886299", + "url": "http://identifiers.org/pubmed/17886299" } ], "frequency_qualifier": null, @@ -1496,10 +1408,7 @@ "stage_qualifier_category": null, "stage_qualifier_closure": [], "stage_qualifier_closure_label": [], - "direction": "outgoing", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0] + "direction": "outgoing" } ] } diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json index bf06e62cd..a64574dda 100644 --- a/frontend/fixtures/associations-compact.json +++ b/frontend/fixtures/associations-compact.json @@ -1,186 +1,186 @@ { "limit": 20, "offset": 0, - "total": 4965, + "total": 5013, "items": [ { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:26267", - "subject_label": "POMK", - "predicate": "biolink:causes", - "object": "MONDO:0014101", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": 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- "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0031318", + "object_label": "Myofiber disarray", "negated": null }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:15710", - "subject_label": "LDB3", - "predicate": "biolink:causes", - "object": "MONDO:0012277", - "object_label": "myofibrillar myopathy 4", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0024771", + "subject_label": "myopathy, distal, 7, adult-onset, X-linked", + "predicate": "biolink:has_phenotype", + "object": "HP:0003687", + "object_label": "Centrally nucleated skeletal muscle fibers", "negated": null }, { - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:6636", - "subject_label": "LMNA", - 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"predicate": "biolink:subclass_of", - "object": "MONDO:0016198", - "object_label": "qualitative or quantitative defects of plectin", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0007759", + "object_label": "Opacification of the corneal stroma", "negated": null }, { - "category": "biolink:Association", - "subject": "MONDO:0009181", - "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", - "predicate": "biolink:subclass_of", - "object": "MONDO:0017610", - "object_label": "epidermolysis bullosa simplex", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + 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"biolink:has_phenotype", - "object": "HP:0100306", - "object_label": "Muscle fiber hyaline bodies", + "object": "HP:0002187", + "object_label": "Intellectual disability, profound", "negated": null }, { - "category": "biolink:Association", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", - "predicate": "biolink:subclass_of", - "object": "MONDO:0000727", - "object_label": "scapuloperoneal myopathy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "predicate": "biolink:has_phenotype", + "object": "HP:0006829", + "object_label": "Severe muscular hypotonia", "negated": null }, { - "category": "biolink:Association", - "subject": "MONDO:0008409", - "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", - "predicate": "biolink:subclass_of", - "object": 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"negated": null } ] diff --git a/frontend/fixtures/associations.json b/frontend/fixtures/associations.json index b7a9367fa..5e8a4ad65 100644 --- a/frontend/fixtures/associations.json +++ b/frontend/fixtures/associations.json @@ -1,106 +1,211 @@ { "limit": 20, "offset": 0, - "total": 4965, + "total": 5013, "items": [ { - "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", - "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:26267", - "original_subject": "NCBIGene:84197", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "POMK", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:causes", - "object": "MONDO:0014101", - "original_object": "OMIM:615249", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0020121", - "BFO:0000017", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "id": "uuid:1ccfb83b-400a-11ef-89e7-6fe0be41fbbf", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0009667", + "original_subject": "OMIM:253280", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0005071", - "MONDO:0100546", - "MONDO:0000001", - "BFO:0000002", - "MONDO:0018276", - "MONDO:0000171", "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", - "BFO:0000020", - "MONDO:0014101", - "MONDO:0002320", - "BFO:0000001", + "MONDO:0015286", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000002", + "MONDO:0017741", + "MONDO:0024322", + "MONDO:0100546", + "OGMS:0000031", + "BFO:0000017", + "MONDO:0005066", "MONDO:0100545", "MONDO:0002081", "MONDO:0019950", + "MONDO:0700223", + "MONDO:0700096", + "MONDO:0002320", "MONDO:0003847", - "MONDO:0700096" + "MONDO:0020121", + "MONDO:0700068", + "MONDO:0005336", + "MONDO:0003939", + "BFO:0000001", + "MONDO:0019052", + "BFO:0000020", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0000001", + "MONDO:0009667", + "MONDO:0000171", + "MONDO:0018939" ], - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", - "object_closure_label": [ - "hereditary neuromuscular disease", - "disposition", - "hereditary disease", + "subject_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3", + "subject_closure_label": [ "nervous system disorder", - "continuant", - "muscle tissue disorder", - "muscular dystrophy", - "disease", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "hereditary neuromuscular disease", + "human disease", "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "specifically dependent continuant", + "muscular dystrophy-dystroglycanopathy (congenital with 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myopathy", + "muscular dystrophy", + "myopathy caused by variation in POMGNT1", "realizable entity", - "familial dilated cardiomyopathy", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease", - "entity", + "metabolic disease", + "continuant", "myopathy", - "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" + "congenital nervous system disorder", + "entity", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", + "hereditary disease", + "disease", + "disposition", + "muscle tissue disorder", + "muscle-eye-brain disease" ], "subject_taxon": null, "subject_taxon_label": null, - "predicate": "biolink:subclass_of", - "object": "MONDO:0019952", + "predicate": "biolink:has_phenotype", + "object": "HP:0000639", "original_object": null, - "object_namespace": "MONDO", - "object_category": "biolink:Disease", + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "MONDO:0019952", - "BFO:0000017", - "OGMS:0000031", - "BFO:0000002", - "MONDO:0020120", + "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", "BFO:0000001", - "MONDO:0000001", - "BFO:0000016", - "MONDO:0003939", - "MONDO:0700223", - "MONDO:0005336", + "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: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", + "HP:0000118", + "UPHENO:0002536", + "UBERON:0015212", + "UBERON:0010314", + "UBERON:0000970", + "BFO:0000002", + "BFO:0000002", + "HP:0100022", + "UPHENO:0002844", + "HP:0011389", + "HP:0000496", + "UPHENO:0079833", + "BFO:0000015", + "BFO:0000004", + "UBERON:0004121", + "UBERON:0010000", + "UBERON:0004456", + "NBO:0000388", + "NBO:0000444", + "UBERON:0000033", + "UBERON:0004088", + "UBERON:0001456", + "UPHENO:0049622", "BFO:0000020", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0700096" + "UPHENO:0002433", + "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: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" ], - "object_label": "congenital myopathy", + "object_label": "Nystagmus", "object_closure_label": [ - "disposition", - "hereditary disease", - "muscle tissue disorder", - "disease", - "hereditary skeletal muscle disorder", - "continuant", - "skeletal muscle disorder", + "abnormal voluntary movement behavior", + "abnormal response to stimulus", "specifically dependent continuant", - "disease", - "musculoskeletal system disorder", - "congenital myopathy", - "realizable entity", - "human disease", - "myopathy", - "entity" + "abnormality of nervous system physiology", + "abnormal behavior process", + "abnormal nervous system", + "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", + "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", + "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", + "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", + "Phenotypic abnormality", + "anatomical system", + "sensory system", + "abnormality of anatomical entity physiology", + "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" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mondo", - "aggregator_knowledge_source": [ - "infores:monarchinitiative", - "infores:phenio" - ], + "primary_knowledge_source": "infores:hpo-annotations", + "aggregator_knowledge_source": ["infores:monarchinitiative"], "negated": null, "pathway": null, - "evidence_count": 0, - "knowledge_level": "not_provided", - "agent_type": "not_provided", - "has_evidence": [], - "has_evidence_links": [], + "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_count": null, "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", - "provided_by": "phenio_edges", + "grouping_key": "MONDO:0009667||biolink:has_phenotype|HP:0000639", + "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { - "id": "phenio", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#" + "id": "hpoa_disease_to_phenotype", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, "publications": [], "publications_links": [], diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json index 64c4c5184..629b56593 100644 --- a/frontend/fixtures/autocomplete.json +++ b/frontend/fixtures/autocomplete.json @@ -116,114 +116,97 @@ "Male infertility" ], "has_phenotype_closure": [ - "HP:0003254", - "HP:0003213", - "UPHENO:0049964", - "UPHENO:0051124", "GO:0051716", "GO:0006950", - "GO:0051319", + "HP:0003213", + "UPHENO:0051124", + "HP:0003254", + "UPHENO:0049964", "GO:0007049", - "GO:0050954", - "HP:0000598", - "GO:0007605", + "GO:0051319", "UPHENO:0050625", "HP:0000364", + "GO:0007605", "UPHENO:0005518", + "HP:0000598", + "GO:0050954", "UPHENO:0052970", "UBERON:0002105", - "NBO:0000338", - "UPHENO:0049586", - "HP:0000708", - "UPHENO:0049622", "GO:0007610", - "HP:0000486", - "UBERON:0006800", - "BFO:0000141", + "HP:0000708", "HP:0000549", - "HP:0000496", + "HP:0000486", + "UPHENO:0049622", "NBO:0000444", + "HP:0000496", "UBERON:0010222", - "UPHENO:0079828", "UPHENO:0080585", - "GO:0050896", + "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:0080351", "UPHENO:0075159", - "UPHENO:0041226", - "HP:0000085", - "UPHENO:0082444", "GO:0007600", "UPHENO:0041075", + "HP:0000085", + "UPHENO:0041465", + "UPHENO:0082444", + "UPHENO:0041226", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0041465", "HP:0000081", "UPHENO:0075787", + "HP:0002664", + "HP:0011793", "HP:0001909", "HP:0004377", - "HP:0011793", - "HP:0002664", - "UBERON:0000477", - "GO:0008015", + "HP:0002597", "HP:0001892", "HP:0011029", - "HP:0002597", "UPHENO:0002678", - "GO:0003013", + "UBERON:0000477", "HP:0000978", "UPHENO:0051097", "HP:0001933", "UBERON:0007798", - "UPHENO:0084447", + "GO:0003013", + "GO:0008015", + "HP:0009943", + "HP:0011314", "HP:0009602", + "UPHENO:0087369", + "HP:0009942", "UBERON:0003221", "UBERON:0012357", - "HP:0011314", - "HP:0009943", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0087369", - "HP:0009942", "UPHENO:0021800", + "UPHENO:0084447", "GO:0022403", "UBERON:0004249", "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "GO:0010556", - "GO:0031326", - "GO:0009890", - "HP:0011276", - "UBERON:0005897", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "GO:0005623", + "UPHENO:0049873", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0010629", "GO:0065007", "UPHENO:0080581", "UPHENO:0050021", - "GO:0010629", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", "UPHENO:0000541", "UBERON:0001436", "GO:0010468", @@ -231,150 +214,173 @@ "GO:0010558", "GO:0031327", "GO:0006325", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", + "UPHENO:0049700", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "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", - "UPHENO:0049873", - "GO:0008152", - "HP:0000365", - "GO:0009987", + "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", + "UPHENO:0082794", "GO:0040007", "UPHENO:0049874", + "UPHENO:0010763", "UBERON:0010543", "HP:0001507", - "UPHENO:0082794", - "UPHENO:0010763", "UPHENO:0054299", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0020041", - "HP:0000271", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", "UPHENO:0069523", - "UBERON:0000020", - "UPHENO:0087472", + "UPHENO:0080209", "GO:0033554", "UBERON:0000970", "UBERON:0001456", - "UBERON:0004088", - "HP:0000568", - "UBERON:0004456", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", "UPHENO:0087924", "HP:0100887", "HP:0000478", "UPHENO:0002910", + "UPHENO:0020041", + "HP:0000271", "HP:0011025", "HP:0000315", - "UPHENO:0080209", - "HP:0001896", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", "HP:0004312", + "HP:0001896", "UPHENO:0086002", "UPHENO:0049588", "CL:0000558", "UPHENO:0046505", + "UPHENO:0088186", "HP:0009381", - "UPHENO:0012541", "UPHENO:0002433", "CL:0000233", - "GO:0008150", - "UPHENO:0020888", + "UPHENO:0026506", "UBERON:0015061", "UBERON:0003129", - "UPHENO:0026506", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "NCBITaxon:2759", - "UPHENO:0084448", + "UBERON:0010708", "UBERON:0012139", - "UPHENO:0082761", - "CL:0000738", - "HP:0000027", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UBERON:0010363", - "HP:0002977", - "HP:0009777", - "UBERON:0010708", - "UBERON:0002204", - "UPHENO:0086700", - "UPHENO:0086019", "UBERON:0019221", "GO:0044848", "UBERON:0001460", "UBERON:0002513", "UBERON:0011138", "GO:0022414", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "HP:0045060", - "UPHENO:0086633", + "NCBITaxon:2759", "UBERON:0006717", "UPHENO:0001003", "UPHENO:0076810", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "CL:0000775", - "UPHENO:0088186", + "CL:0000225", "UBERON:0011582", "GO:0006996", "HP:0008678", "UPHENO:0085263", "UPHENO:0052178", - "CL:0000225", - "UBERON:0001440", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "GO:0003008", - "UBERON:0010538", - "HP:0001167", - "HP:0040064", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", + "UBERON:0002204", "UPHENO:0080300", "UPHENO:0009382", "UBERON:0004708", "UPHENO:0085068", "UPHENO:0021474", "UBERON:5001463", - "UBERON:0012140", - "UBERON:0005451", + "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", - "UPHENO:0049952", - "HP:0040068", - "UPHENO:0002708", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0000153", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", "UBERON:0012141", + "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", @@ -384,19 +390,18 @@ "GO:0034641", "HP:0000929", "HP:0010461", - "UBERON:0000153", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "HP:0012638", + "UPHENO:0053644", + "UBERON:8450002", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "UBERON:0003103", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0088321", "UPHENO:0049367", "UPHENO:0075997", "UBERON:0002371", @@ -405,63 +410,70 @@ "HP:0012373", "HP:0100542", "UBERON:0000916", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UPHENO:0085984", - "UBERON:0005173", - "UBERON:0005177", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", + "UPHENO:0002803", + "UBERON:0005172", + "CL:0001035", + "BFO:0000040", "UPHENO:0084766", "UBERON:0015212", - "BFO:0000040", - "BFO:0000004", - "UBERON:8450002", - "UPHENO:0053644", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", + "UPHENO:0059829", + "HP:0011991", "UBERON:0011250", "UPHENO:0086176", "UBERON:0010758", "UPHENO:0087846", - "UBERON:5006048", - "UBERON:0003133", - "UBERON:0003103", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UPHENO:0085984", "HP:0020047", "GO:0007276", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "GO:0032501", - "UBERON:0013701", + "HP:0001874", + "UPHENO:0076692", + "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", - "HP:0001874", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0063722", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0088335", - "HP:0000924", - "UBERON:0004121", + "UPHENO:0001002", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "UBERON:0008785", + "CL:0000255", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", "GO:0043170", "HP:0011961", "UPHENO:0077426", @@ -470,12 +482,6 @@ "UPHENO:0076724", "UPHENO:0081451", "UBERON:0002101", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", "HP:0000152", "GO:0048523", "HP:0000079", @@ -483,277 +489,267 @@ "UPHENO:0085330", "UPHENO:0076703", "HP:0003974", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UPHENO:0001002", - "UBERON:0000062", + "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:0005881", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:5002544", - "UPHENO:0087510", - "GO:0006281", - "BFO:0000002", - "HP:0012639", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0000467", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", + "UBERON:0008962", + "HP:0012210", + "UBERON:0001463", "HP:0001877", "UBERON:0002389", "UPHENO:0087349", "UBERON:0000468", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UBERON:0004120", - "HP:0005922", - "UBERON:0005178", - "UPHENO:0049701", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0012638", "UPHENO:0079876", "UPHENO:0053580", "UBERON:0011143", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "HP:0011991", - "UPHENO:0059829", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0087802", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0086016", + "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", - "UPHENO:0085371", - "HP:0025354", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0000144", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0087427", "CL:0002242", "UPHENO:0085405", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UPHENO:0087427", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0002529", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UBERON:0003607", - "HP:0011844", - "HP:0007364", - "UPHENO:0080079", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UPHENO:0049748", - "HP:0000707", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0087802", + "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", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", "UPHENO:0076805", "UPHENO:0085189", - "UBERON:0012475", - "UPHENO:0002880", - "HP:0000144", - "HP:0001518", - "HP:0100547", - "HP:0032309", - "UPHENO:0078606", - "HP:0006265", - "UPHENO:0087123", - "UPHENO:0035025", - "UBERON:0000479", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", "HP:0000086", "CL:0000766", - "UBERON:0002091", - "UPHENO:0020584", + "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", - "UPHENO:0046624", - "UBERON:0004381", - "UPHENO:0011498", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0050108", - "HP:0100543", - "CL:0000408", - "GO:0007283", - "UPHENO:0075220", - "UPHENO:0087907", - "HP:0006501", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", + "UBERON:0001440", + "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", - "UPHENO:0086589", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", "UPHENO:0080377", "UBERON:0011137", "UBERON:0000489", "UBERON:0010323", - "UBERON:0002090", - "GO:0048232", - "UBERON:0001017", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0054970", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", "HP:0002011", "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0080362", - "BFO:0000001", - "UPHENO:0002635", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", "HP:0001626", - "UBERON:0001009", "UBERON:0000948", - "UPHENO:0005016", - "UBERON:0007100", - "NCBITaxon:6072", - "UPHENO:0076776", + "BFO:0000001", + "UPHENO:0002635", "UBERON:0000915", "UBERON:0005181", + "UPHENO:0080362", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0001009", "HP:0030680", - "UPHENO:0080221", + "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", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", "UBERON:0002102", "UPHENO:0003811", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "HP:0011121", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", "HP:0000002", "UPHENO:0076740", "HP:0000953", "HP:0000789", "UBERON:0004710", "UPHENO:0088162", - "UPHENO:0074589", "GO:0050794", "UPHENO:0085875", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001574", - "HP:0003251", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", + "HP:0011121", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0003055", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "HP:0000078", "HP:0011028", "UBERON:0010712", "HP:0000080", - "UPHENO:0003055", - "UBERON:0005156", - "UPHENO:0080126", - "UBERON:0015204", + "UPHENO:0066972", + "UBERON:0000990", "UPHENO:0003020", "UBERON:0005944", "UBERON:0000991", - "HP:0001903", - "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0066972", - "HP:0000818", - "UBERON:0000990", "HP:0008373", - "HP:0000118", - "HP:0001876", - "UPHENO:0024906", - "HP:0000078", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0000818", + "UBERON:0005156", "CL:0000232", "UBERON:0004375", "HP:0011873", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", "UPHENO:0087089", "CL:0000764", "UBERON:0001474", "CL:0000329", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", "UPHENO:0082875", "HP:0011355", "HP:0000104", @@ -765,6 +761,8 @@ "UPHENO:0025211", "HP:0025461", "UPHENO:0009399", + "UBERON:0013702", + "UPHENO:0080187", "UBERON:0015021", "UBERON:0002386", "UPHENO:0086635", @@ -772,41 +770,43 @@ "HP:0000812", "UBERON:0000955", "UBERON:0010703", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0085356", + "GO:0019953", "UBERON:0010912", "CL:0000094", "HP:0040072", - "UPHENO:0086956", - "UPHENO:0085356", - "GO:0019953", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "UPHENO:0076799", - "HP:0000119", - "UPHENO:0081511", - "UBERON:0004176", "UPHENO:0079872", "UPHENO:0009341", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0013702", - "UPHENO:0080187", + "UBERON:0001423", + "UPHENO:0086956", + "HP:0040070", "UBERON:0002405", "UPHENO:0021561", "UBERON:0003606", - "UBERON:0002104", - "HP:0006503", "UPHENO:0041821", "HP:0009825", "UPHENO:0002332", "HP:0012874", + "UBERON:0002104", + "HP:0006503", "HP:0009142", "UBERON:0004535", "UPHENO:0002751", "UBERON:0002495", - "UBERON:0001423", + "GO:0071840", + "HP:0002813", + "HP:0002818", "HP:0001249", "UBERON:0001968", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", "UBERON:0010741", "UPHENO:0081755", "UBERON:0002471", @@ -814,198 +814,195 @@ "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "HP:0040070", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000457", "UPHENO:0086045", "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0011584", - "UPHENO:0084987", "UPHENO:0085042", "HP:0012145", - "UPHENO:0084761", - "HP:0001872", + "UPHENO:0087355", + "CL:0000457", + "UPHENO:0087339", "CL:0000458", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", "UPHENO:0026028", "UPHENO:0084928", "UPHENO:0085302", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0086201", - "HP:0001000", - "UPHENO:0080382", - "HP:0003953", - "GO:0048609", - "GO:0003006", + "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", - "UPHENO:0052231", - "HP:0000028", "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", - "HP:0000811", - "HP:0005918", - "HP:0012243", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", "HP:0001172", - "UBERON:0011676", "HP:0002973", + "UBERON:0011676", "HP:0000025", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0004288", "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", - "HP:0008669", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", "UPHENO:0086198", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", "HP:0012041", "UPHENO:0079826", "UBERON:0004122", "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", "UBERON:0015063", "UPHENO:0078729", "UBERON:0000463", "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0008668", - "UPHENO:0068971", - "UPHENO:0046411", + "HP:0005918", + "HP:0012243", + "UPHENO:0012541", "HP:0004325", - "UPHENO:0031839" + "UPHENO:0031839", + "UPHENO:0046411", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "UPHENO:0008668", + "UPHENO:0068971" ], "has_phenotype_closure_label": [ "Decreased fertility in males", "Decreased fertility", - "DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", "abnormal response to stress", + "DNA repair", + "response to stress", "abnormal cellular response to stress", "abnormal DNA repair", - "response to stress", - "cell cycle phase", + "Deficient excision of UV-induced pyrimidine dimers in DNA", "Abnormality of the cell cycle", "G2 phase", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormal ear", + "cell cycle phase", "abnormal sensory perception", "Hearing abnormality", + "decreased sensory perception of sound", "ear", + "abnormal ear", "sensory perception of sound", - "body part movement", + "decreased qualitatively sensory perception of mechanical stimulus", "anatomical line", + "body part movement", "immaterial anatomical entity", - "Strabismus", - "abnormal response to stimulus", + "behavior", "response to stimulus", - "behavior process", - "abnormal eye movement", "eye movement", - "behavior", - "delayed biological_process", - "Short stature", + "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", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "Horseshoe kidney", + "shape anatomical entity", "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "shape anatomical entity", - "Horseshoe kidney", "3-D shape anatomical entity", "U-shaped anatomical entity", "Neoplasm", "Hematological neoplasm", - "Generalized abnormality of skin", - "Internal hemorrhage", + "vasculature", "Abnormality of the vasculature", "blood circulation", - "Vascular skin abnormality", - "Abnormality of blood circulation", - "vasculature", - "abnormality of cardiovascular system physiology", - "Abnormal bleeding", "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", + "manual digit bone", "Duplication of bones involving the upper extremities", - "phalanx", "phalanx endochondral element", "manual digit phalanx endochondral element", - "abnormal phalanx morphology", - "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", + "abnormal phalanx morphology", "acropodial skeleton", - "manual digit bone", + "abnormal phalanx of manus morphology", + "Abnormality of thumb phalanx", + "phalanx", "digit 1 digitopodial skeleton", "manual digit digitopodial skeleton", "digitopodium bone", "skeleton of manual acropodium", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "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", - "Abnormality of DNA repair", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", + "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", @@ -1017,126 +1014,104 @@ "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "cellular component organization or biogenesis", + "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", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "abnormal growth", + "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", - "decreased anatomical entity mass", - "abnormal size of eyeball of camera-type eye", + "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", - "Abnormality of the face", - "simple eye", - "sensory system", + "abnormal camera-type eye morphology", "Abnormality of the eye", "abnormal face", - "sense organ", - "eyeball of camera-type eye", - "camera-type eye", - "Microphthalmia", "orbital region", - "Abnormality of the orbital region", "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", + "abnormal size of eyeball of camera-type eye", "visual system", - "abnormally decreased number of reticulocyte", - "reticulocyte", - "multicellular organismal reproductive process", - "Non-obstructive azoospermia", - "axial skeleton plus cranial skeleton", + "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", - "system process", - "Male infertility", - "abnormal limb morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "appendicular skeletal system", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "entity", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", + "axial skeleton plus cranial skeleton", "Abnormal appendicular skeleton morphology", "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "system", - "aplasia or hypoplasia of manual digit 1", - "bone of appendage girdle complex", - "Abnormal finger phalanx morphology", - "pigmentation", + "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 limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "occurrent", + "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", + "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "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", - "paired limb/fin skeleton", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "digit plus metapodial segment", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "forelimb", - "Abnormal forebrain morphology", - "abnormal digit morphology", - "abnormal manus", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal skeletal system", - "digit 1 plus metapodial segment", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", @@ -1146,82 +1121,87 @@ "skeleton", "male gamete generation", "absent anatomical entity", - "regulation of metabolic process", - "Decreased body weight", - "autopodial extension", - "manual digit 1", - "abnormal immune system morphology", - "skeletal system", - "motile cell", - "Abnormality of limbs", - "Abnormality of limb bone morphology", "Abnormal digit morphology", - "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 cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "abnormally decreased number of myeloid cell", - "aplastic anatomical entity", - "face", - "aplasia or hypoplasia of manual digit", + "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", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "acropodium region", - "Intellectual disability", - "bone marrow", + "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", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "abnormal enucleated reticulocyte morphology", - "nucleate cell", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "sexual reproduction", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "Macule", - "renal system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "quality", "abnormal manus morphology", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", + "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", - "Aplasia/Hypoplasia of fingers", "digitopodium region", + "Aplasia/Hypoplasia of fingers", "abnormal myeloid cell morphology", "increased biological_process", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "hemolymphoid system", - "Aplasia/hypoplasia involving the skeleton", + "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", @@ -1233,18 +1213,68 @@ "Abnormal cerebral morphology", "abnormal blood circulation", "arm bone", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", - "abnormal anatomical entity", - "Small for gestational age", - "Abnormal forearm morphology", - "abnormal immune system", + "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", + "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 leukocyte morphology", - "anatomical line between pupils", - "independent continuant", + "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", @@ -1252,29 +1282,27 @@ "Hypermelanotic macule", "abnormal bone marrow morphology", "reproduction", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Abnormal cellular immune system morphology", - "Abnormal nervous system physiology", - "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "multicellular organism", "Thrombocytopenia", - "skeletal element", - "zeugopod", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "renal collecting system", - "Ectopic kidney", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", + "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", @@ -1282,9 +1310,9 @@ "Abnormality of neutrophils", "leukocyte", "abnormal gamete generation", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "continuant", + "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", @@ -1292,70 +1320,15 @@ "negative regulation of biosynthetic process", "material entity", "long bone", - "regional part of nervous system", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "abdominal segment element", - "abnormal reproductive system morphology", - "abnormal hematopoietic system", - "Renal agenesis", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "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", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "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", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "aplastic manual digit 1", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic cell morphology", - "viscus", - "Abnormal granulocyte morphology", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Complete duplication of phalanx of hand", - "limb bone", - "granulocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal nervous system", "paired limb/fin segment", "abnormality of camera-type eye physiology", "immune system", - "abnormally decreased number of leukocyte in the independent continuant", "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "Absent forearm bone", "Leukemia", "abnormal cell morphology", @@ -1371,6 +1344,34 @@ "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", @@ -1378,6 +1379,9 @@ "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", @@ -1387,95 +1391,84 @@ "compound organ", "zeugopodial skeleton", "limb long bone", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", "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", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "manual digit 1 plus metapodial segment", - "abdomen", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "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 nervous system", + "abnormal hematopoietic cell morphology", "biological phase", "autopod bone", "mesoderm-derived structure", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", + "abnormal manus", + "craniocervical region", + "abnormal forebrain morphology", "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", "abnormal craniocervical region morphology", "immaterial entity", "Abnormality of chromosome stability", "anatomical entity dysfunction in independent continuant", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "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", - "craniocervical region", + "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", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", + "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", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "kinesthetic behavior", - "Eumetazoa", - "Infertility", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal forebrain morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal skull morphology", - "reproductive organ", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Decreased head circumference", + "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", @@ -1483,42 +1476,51 @@ "Abnormal axial skeleton morphology", "non-material anatomical boundary", "erythroid lineage cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", + "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", - "heart plus pericardium", - "Cryptorchidism", + "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", - "abnormal integument", - "Cafe-au-lait spot", - "abnormally decreased number of anatomical entity in the independent continuant", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Neutropenia", - "reproductive structure", "changed biological_process rate", "increased biological_process in skin of body", "absent germ cell", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal skin of body", "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", - "integumental system", - "integument", - "absent radius bone in the forelimb", "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", @@ -1527,28 +1529,27 @@ "germ line cell", "abnormal pigmentation in independent continuant", "Abnormal forearm bone morphology", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "Abnormality of the head", - "heart", - "abnormal pigmentation", + "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", - "Abnormality of the genital system", + "abnormal endocrine system", + "abnormally decreased number of reticulocyte", + "Abnormality of the endocrine system", "Abnormality of reproductive system physiology", "gamete", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "glandular system", "male gamete", "abnormally decreased functionality of the gonad", - "oxygen accumulating cell", + "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", @@ -1556,134 +1557,133 @@ "abnormal shape of continuant", "trunk", "abnormal bone marrow cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", "absent kidney", "subdivision of skeletal system", "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "forelimb zeugopod skeleton", - "forelimb zeugopod", - "abnormal testis morphology", "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", - "abnormal radius bone morphology", - "Absent radius", - "aplastic forelimb zeugopod bone", - "abnormal size of skull", - "forelimb long bone", "sensory perception of mechanical stimulus", "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", + "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", "anucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", "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", - "digit 1", - "abnormal platelet morphology", + "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", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", "germ cell", - "abnormal internal genitalia", - "abnormal cell", - "disconnected anatomical group", - "male reproductive organ", - "internal genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "haploid cell", + "absent gamete", + "sperm", "abnormal gamete", "Reticulocytopenia", - "interphase", - "semen", "organism substance", - "Abnormal external genitalia", + "haploid cell", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "internal genitalia", + "abnormal internal genitalia", "platelet", "absent sperm in the independent continuant", - "male germ cell", - "abnormal granulocyte morphology", - "Azoospermia", "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", - "testis", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive 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", - "sperm", - "absent gamete", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "Abnormal testis morphology", + "abnormal granulocyte morphology", + "Azoospermia", "absent anatomical entity in the independent continuant", "abnormally localised testis", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", + "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", + "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", - "Short finger", "skeleton of digitopodium", "Short digit", - "anterior region of body", - "decreased length of manual digit 1" + "reticulocyte" ], "has_phenotype_count": 34, "highlight": null, @@ -1718,10 +1718,10 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0007018", "HP:0040012", - "HP:0008551", + "HP:0007018", "HP:0000470", + "HP:0008551", "HP:0009777", "HP:0004590", "HP:0002575", @@ -1756,10 +1756,10 @@ "HP:0000089" ], "has_phenotype_label": [ - "Attention deficit hyperactivity disorder", "Chromosome breakage", - "Microtia", + "Attention deficit hyperactivity disorder", "Short neck", + "Microtia", "Absent thumb", "Hypoplastic sacrum", "Tracheoesophageal fistula", @@ -1795,187 +1795,201 @@ ], "has_phenotype_closure": [ "UPHENO:0081210", - "UPHENO:0085195", - "UPHENO:0087123", - "HP:0012145", - "HP:0005528", "UBERON:0000479", + "HP:0005528", + "HP:0002715", "HP:0005561", + "UPHENO:0085195", "UPHENO:0087355", - "HP:0002715", - "UBERON:0008340", - "UPHENO:0006161", - "UPHENO:0087278", + "UPHENO:0087123", + "HP:0012145", "UPHENO:0006147", + "UPHENO:0087278", "UPHENO:0081800", + "UBERON:0008340", "HP:0000431", + "UPHENO:0006161", "HP:0000568", - "HP:0008056", "HP:0100887", + "HP:0008056", + "UPHENO:0000552", + "UPHENO:0050372", "GO:0048709", + "GO:0048869", + "HP:0012448", "GO:0007399", "GO:0032291", "GO:0022008", "GO:0010001", - "HP:0012448", - "GO:0048869", - "UPHENO:0000552", - "UPHENO:0050372", - "UPHENO:0076779", - "UPHENO:0087427", - "GO:0030154", - "UBERON:0002113", - "UBERON:0011143", "UBERON:0000916", "UPHENO:0083952", "UBERON:8450002", - "HP:0000122", "UPHENO:0026980", "UPHENO:0008593", - "GO:0014003", - "HP:0001877", - "HP:0012130", - "UBERON:0002390", - "UPHENO:0004459", - "HP:0001903", + "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", - "UPHENO:0082467", - "UPHENO:0041458", - "UPHENO:0041203", - "UBERON:0000004", - "UBERON:0002268", - "UPHENO:0087430", + "HP:0012130", + "HP:0001903", + "UPHENO:0004459", "HP:0000366", "UPHENO:0082454", - "UPHENO:0081585", - "UPHENO:0082356", + "UPHENO:0041203", "UPHENO:0041080", "UPHENO:0075219", "HP:0005105", + "UPHENO:0087430", + "UPHENO:0041458", + "UBERON:0002268", + "UPHENO:0081585", + "UPHENO:0082356", + "UBERON:0000004", + "UPHENO:0082467", "HP:0000436", - "UPHENO:0080209", - "UPHENO:0068843", - "UBERON:0004053", - "UBERON:0008811", "HP:0010935", "UPHENO:0002907", "HP:0003241", - "HP:0000032", + "UBERON:0003101", + "UBERON:0004053", + "UBERON:0008811", "HP:0008736", + "UBERON:0000989", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", "UBERON:0001008", "UPHENO:0081320", "UPHENO:0002948", "UPHENO:0087643", - "UBERON:0000989", - "UBERON:0003101", - "UPHENO:0050406", - "HP:0000811", - "HP:0010461", "HP:0000054", + "HP:0000032", + "UPHENO:0087802", "HP:0001871", "UBERON:0000079", - "UPHENO:0087802", - "UPHENO:0075655", + "UPHENO:0080209", + "UPHENO:0068843", + "HP:0000175", + "HP:0000202", "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0002553", "UBERON:0001716", - "HP:0000202", + "UBERON:0000464", "UBERON:0001709", - "UBERON:0002553", - "UPHENO:0076786", + "UPHENO:0075655", "UPHENO:0033635", - "UBERON:0000464", - "HP:0000175", - "UPHENO:0020013", + "HP:0011283", "NCBITaxon:6072", - "NCBITaxon:2759", - "UPHENO:0081601", + "UPHENO:0076720", + "UPHENO:0080089", + "NCBITaxon:131567", + "UPHENO:0020013", + "UBERON:0004732", "UBERON:0002028", "UBERON:0002037", "UBERON:0001895", "NCBITaxon:33154", - "NCBITaxon:131567", - "UPHENO:0080089", - "HP:0002977", + "UPHENO:0081601", "GO:0007417", "UBERON:0004176", "UBERON:0004733", - "UBERON:0004732", - "UPHENO:0076720", "NCBITaxon:1", - "HP:0011283", + "HP:0002977", "UBERON:0000063", "UBERON:0000073", + "NCBITaxon:2759", "HP:0011968", "UPHENO:0063603", "HP:0002589", "HP:0003221", "HP:0001263", - "UPHENO:0002642", + "UBERON:0005156", "HP:0000151", - "UPHENO:0020950", - "UBERON:0000990", + "UBERON:0003100", + "UPHENO:0003053", + "UPHENO:0002642", "UPHENO:0025875", "UBERON:0003134", "UBERON:0000995", - "UPHENO:0087547", - "HP:0000130", - "UPHENO:0003053", - "UBERON:0003100", + "UBERON:0000990", + "UPHENO:0003055", "HP:0010460", + "UPHENO:0020950", "UPHENO:0005170", - "UBERON:0005156", - "UPHENO:0003055", + "HP:0000130", + "UPHENO:0087547", "UPHENO:0009305", + "UPHENO:0005642", "UPHENO:0002832", "UPHENO:0041098", "UBERON:0013515", "GO:0032502", - "UPHENO:0052778", "CL:0001035", "UPHENO:0050034", + "UPHENO:0052778", "UBERON:0012128", "GO:0009790", - "UPHENO:0005433", - "UPHENO:0080393", - "UPHENO:0005642", "UPHENO:0068984", "UPHENO:0050108", - "HP:0040070", - "UPHENO:0076718", - "HP:0006501", + "UPHENO:0005433", + "UPHENO:0080393", "UBERON:0003466", "UBERON:0002471", "UBERON:0010741", + "HP:0000119", + "UPHENO:0081511", + "HP:0003974", "HP:0003953", - "UPHENO:0026023", - "UBERON:0003607", - "UBERON:0001423", + "UPHENO:0076718", "HP:0009825", "UBERON:0002405", "UBERON:0003606", - "HP:0003974", - "UPHENO:0062515", - "UPHENO:0087585", - "UPHENO:0079872", - "UPHENO:0009341", - "HP:0000119", - "UPHENO:0081511", + "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:0002386", + "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", - "UBERON:0003457", - "UBERON:0003135", - "HP:0009116", "GO:0042063", "HP:0000036", "UBERON:0011156", @@ -1985,161 +1999,175 @@ "UBERON:0003278", "UBERON:0003462", "UBERON:0001684", - "UPHENO:0061854", - "UPHENO:0084457", - "HP:0009118", - "HP:0011821", - "HP:0031816", - "UPHENO:0088116", - "UBERON:0000165", - "UBERON:0002514", - "UBERON:0007842", - "HP:0002692", - "UBERON:0004756", - "UBERON:0010313", - "UBERON:0003129", - "UBERON:0004742", - "UPHENO:0083646", - "UPHENO:0081314", - "UBERON:0000489", - "UBERON:0010323", - "HP:0030791", - "UBERON:0007375", - "UBERON:0012360", - "HP:0000163", - "UBERON:0002103", - "HP:0000309", - "UBERON:0004375", + "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", - "UPHENO:0080126", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0060026", - "UPHENO:0088162", - "UBERON:0004710", - "HP:0002031", - "HP:0001167", - "UBERON:0004120", - "UPHENO:0008523", - "UPHENO:0006910", + "UBERON:0013765", "UBERON:0015021", "UBERON:0001708", "UPHENO:0003074", "UBERON:0005451", - "UBERON:0000026", "UBERON:0007272", - "HP:0009601", - "HP:0009121", - "UBERON:0000015", - "HP:0000812", - "UPHENO:0086635", - "UBERON:0007196", + "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", + "UBERON:0002097", + "HP:0000598", + "UPHENO:0041226", + "UPHENO:0082129", + "UBERON:0000020", + "HP:0011842", + "UPHENO:0069196", + "UPHENO:0076760", + "UPHENO:0086595", + "UBERON:0001691", + "UPHENO:0084763", + "UPHENO:0018414", + "UPHENO:0080114", + "HP:0000234", + "UBERON:0000062", + "HP:0040072", + "UBERON:0010912", + "UBERON:0008001", + "HP:0011282", + "UBERON:0002204", + "UBERON:0003458", + "CL:0000988", + "UBERON:0002413", + "UBERON:0003103", + "UPHENO:0020584", + "UBERON:0005434", + "UBERON:0002529", + "UBERON:0006077", + "UPHENO:0002443", + "HP:0025033", + "UBERON:0015007", + "HP:0000316", "UBERON:0010363", + "UPHENO:0002813", + "GO:0044237", "CL:0000329", "UBERON:0001474", "HP:0001321", "GO:0006259", "UPHENO:0087806", "HP:0000708", - "GO:0044237", - "UPHENO:0002813", - "HP:0011282", - "UBERON:0002204", - "UBERON:0008001", - "UBERON:0001440", - "HP:0025668", - "UPHENO:0076739", "UPHENO:0087950", "HP:0000001", "UBERON:0006072", "HP:0008684", "UPHENO:0081788", - "UBERON:0002101", "UBERON:0002412", "UPHENO:0002828", - "UBERON:0003458", "UBERON:0002090", "UPHENO:0084761", "UBERON:0034925", "UBERON:0011138", - "UBERON:0002513", "UPHENO:0084012", "GO:0048468", "GO:0031323", - "UBERON:0006077", - "UPHENO:0002443", - "HP:0025033", - "CL:0000988", - "UBERON:0002413", - "UBERON:0003103", - "UBERON:0005434", - "UBERON:0002529", - "UBERON:0011582", + "UBERON:0002513", + "UBERON:0015203", + "UPHENO:0080325", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000812", + "UPHENO:0086635", + "UBERON:0007196", + "HP:0025668", + "UPHENO:0076739", + "GO:0042552", + "UPHENO:0049700", + "HP:0005927", + "BFO:0000002", + "HP:0000736", + "HP:0012639", + "UBERON:0006800", + "UPHENO:0069249", + "UPHENO:0076692", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0002844", + "UBERON:0010364", + "UBERON:0019231", + "UBERON:0007914", + "UPHENO:0087924", "GO:0050896", - "HP:0040072", - "UBERON:0010912", - "UBERON:0015007", - "HP:0000316", - "HP:0011842", + "UBERON:0011582", + "UPHENO:0081095", + "UBERON:0010314", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0084928", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0080079", + "HP:0011844", + "UBERON:0004709", + "UBERON:0011584", + "UBERON:0004923", + "UPHENO:0080382", + "HP:0001000", + "GO:0010556", + "PR:000050567", + "UBERON:0001711", + "GO:0009890", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0002903", + "UPHENO:0081783", + "UBERON:0002100", + "HP:5200044", + "GO:0031049", + "UBERON:0002075", + "GO:0090304", + "UBERON:0000060", + "UPHENO:0002332", "CL:0000764", "UPHENO:0087089", "UPHENO:0003085", - "GO:0022010", - "UPHENO:0087563", - "UPHENO:0005016", - "HP:0001883", - "HP:0000470", - "UPHENO:0086589", - "UPHENO:0076791", - "HP:0200006", - "UBERON:0000033", - "UBERON:0015001", - "HP:0001155", - "HP:0002086", - "UPHENO:0046571", - "HP:0000377", - "UPHENO:0076803", - "UBERON:0015203", - "UPHENO:0080325", - "UPHENO:0075195", - "UBERON:0000020", - "HP:0002795", - "UBERON:0001434", - "HP:0007360", - "UPHENO:0075878", - "GO:0048856", - "UPHENO:0072194", - "UPHENO:0080187", - "UBERON:0013702", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0084763", - "UPHENO:0018414", - "UBERON:0034923", - "HP:0040064", - "UPHENO:0080111", - "UBERON:0002097", - "HP:0000598", - "UPHENO:0041226", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UPHENO:0087478", - "UPHENO:0080165", - "UPHENO:0081091", - "UPHENO:0069196", - "HP:0000951", - "RO:0002577", - "UBERON:0010703", - "UBERON:0000955", - "UPHENO:0020584", - "UPHENO:0080114", - "HP:0000234", + "HP:0000437", + "GO:0006139", + "HP:0002664", + "UPHENO:0076723", + "UPHENO:0055730", + "UBERON:0034929", + "UPHENO:0087907", + "GO:0009987", "HP:0025032", "UPHENO:0026984", "HP:0031703", @@ -2150,116 +2178,138 @@ "HP:0011297", "UBERON:0011159", "GO:0071704", + "UPHENO:0050113", + "UPHENO:0025708", + "HP:0000929", + "GO:0034641", + "UPHENO:0031839", + "UPHENO:0001003", + "UBERON:0006717", + "BFO:0000003", + "UPHENO:0080171", "CL:0000000", - "UPHENO:0002803", "UBERON:0005172", + "UPHENO:0002803", "UPHENO:0002934", "UPHENO:0004536", - "PR:000050567", - "GO:0010556", - "UBERON:0001711", - "BFO:0000003", - "UPHENO:0080171", - "UPHENO:0076703", - "HP:0000582", - "HP:0002664", - "HP:0000437", - "GO:0006139", - "UPHENO:0031839", + "UBERON:0003113", + "HP:0002778", + "GO:0031324", + "UPHENO:0087510", + "UBERON:5002544", + "UBERON:0001130", + "UBERON:0000465", + "HP:0003220", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", "UPHENO:0084007", "GO:0031052", + "PATO:0000001", + "UPHENO:0080110", "HP:0000357", "UPHENO:0018424", - "UBERON:0003975", - "UPHENO:0080099", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "UPHENO:0005986", "UBERON:0004456", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0075902", + "UPHENO:0015280", + "GO:0016043", + "HP:0012758", + "HP:0002011", + "UPHENO:0074575", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", "GO:0050789", - "HP:0011844", - "UPHENO:0080079", - "UBERON:0004709", - "UBERON:0005174", - "HP:5200045", - "UPHENO:0002433", - "UBERON:0002355", - "UBERON:0003947", - "UBERON:0000465", - "UBERON:0001130", - "UBERON:0010000", - "UPHENO:0012541", - "UPHENO:0080585", - "GO:0010605", - "UBERON:0002387", + "GO:0005623", + "HP:0011446", + "UBERON:0004119", + "UPHENO:0082682", + "UBERON:0001016", + "HP:0000582", + "UPHENO:0076703", + "GO:0046483", + "UPHENO:0084766", "BFO:0000004", "UBERON:0008785", - "UPHENO:0050121", + "GO:0008152", + "UPHENO:0087501", + "UPHENO:0076800", + "GO:0006725", + "GO:0071824", + "UBERON:0010313", + "GO:0065007", + "GO:0048731", + "GO:0031327", + "UPHENO:0075195", + "HP:0000152", + "HP:0000356", + "UPHENO:0069110", + "UPHENO:0014240", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0081566", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0059829", + "UBERON:0001690", + "UPHENO:0009396", + "UPHENO:0076752", + "UBERON:0002105", + "UPHENO:0050116", + "UPHENO:0050021", + "UBERON:0012477", + "UPHENO:0001005", + "GO:0010558", + "NBO:0000313", "UBERON:0006983", "GO:0008150", "UBERON:0002371", "UPHENO:0075997", - "UPHENO:0081095", - "UBERON:0010314", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0002844", - "UBERON:0010364", - "UBERON:0019231", - "UBERON:0001137", + "BFO:0000040", + "UBERON:0001442", + "UPHENO:0074584", + "UPHENO:0086589", + "HP:0000470", + "UPHENO:0076791", + "HP:0200006", + "GO:0019222", + "UBERON:0004086", + "UBERON:0000153", + "HP:0008771", + "UPHENO:0049873", + "GO:0010629", + "UBERON:0000033", "UPHENO:0001002", - "UBERON:0007914", - "UPHENO:0087924", - "UPHENO:0050113", - "GO:0009889", - "HP:0000008", - "UPHENO:0002448", + "UBERON:0001137", "GO:0050794", "UBERON:0000474", "HP:0025354", - "GO:0010558", - "NBO:0000313", - "UPHENO:0001005", - "HP:0008771", - "UPHENO:0049873", - "UBERON:0004086", - "UBERON:0000153", - "UPHENO:0069249", - "UPHENO:0076692", - "UPHENO:0081435", - "HP:0001760", - "UPHENO:0041041", - "UPHENO:0049587", - "BFO:0000015", - "HP:0000736", - "BFO:0000002", - "HP:0012639", - "UBERON:0006800", - "UPHENO:0080110", - "PATO:0000001", - "UPHENO:0084928", - "UPHENO:0063565", - "UPHENO:0026028", - "GO:0042552", - "UPHENO:0049700", - "HP:0005927", - "UPHENO:0052178", - "HP:0008551", - "HP:0005922", - "HP:0001317", - "UBERON:0004175", - "HP:0011024", - "UBERON:0011216", - "UBERON:0006333", - "UBERON:0005178", - "GO:0007610", - "UPHENO:0002332", - "UBERON:0002100", - "HP:5200044", - "UPHENO:0004523", + "GO:0009889", + "HP:0000008", + "UPHENO:0002448", + "UPHENO:0050121", + "UPHENO:0081119", + "UPHENO:0076730", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0074572", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "GO:0090304", - "UBERON:0000060", - "GO:0009890", + "UPHENO:0004523", + "UBERON:0013701", + "GO:0032501", + "UPHENO:0026506", + "HP:0012638", "HP:0012210", "UBERON:0008962", "UBERON:0008907", @@ -2267,118 +2317,26 @@ "UPHENO:0002595", "UBERON:0004122", "UPHENO:0079826", + "UPHENO:0068971", + "UPHENO:0008668", "HP:0000089", "UBERON:0001444", "UPHENO:0018390", "HP:0000077", "UBERON:0002199", - "UBERON:0003113", - "HP:0002778", - "UPHENO:0025708", - "HP:0000929", - "GO:0034641", - "HP:0002973", - "HP:0001172", - "UBERON:0011676", - "HP:0011446", - "UBERON:0004119", - "UPHENO:0082682", - "UBERON:0001016", - "UBERON:0004111", - "UBERON:0011137", - "UPHENO:0080377", - "GO:0005623", - "UBERON:0012141", - "NCBITaxon:33208", - "HP:0011017", - "GO:0065007", - "UPHENO:0086172", - "UBERON:0012477", - "HP:0012638", - "HP:0000356", - "UPHENO:0069110", - "UPHENO:0014240", - "HP:0001939", - "UPHENO:0050845", - "UPHENO:0087846", - "UBERON:0001555", - "UPHENO:0059829", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", + "UPHENO:0012541", + "UPHENO:0080585", + "GO:0010605", + "UBERON:0002387", + "UPHENO:0002880", + "UBERON:0012475", + "UBERON:0010000", "UPHENO:0049622", - "HP:0003220", - "UPHENO:0001001", - "HP:0002817", - "UPHENO:0075902", - "UPHENO:0015280", - "GO:0016043", - "HP:0012758", - "HP:0002011", - "UPHENO:0074575", - "GO:0008152", - "GO:0019222", + "UPHENO:0041041", + "UPHENO:0049587", + "BFO:0000015", "UPHENO:0063639", "GO:0006325", - "GO:0048731", - "GO:0031327", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0026183", - "UPHENO:0056072", - "UPHENO:0050116", - "HP:0000174", - "UPHENO:0002896", - "GO:0043933", - "HP:0000079", - "UPHENO:0026128", - "GO:0048523", - "GO:0010629", - "UPHENO:0050021", - "GO:0071824", - "GO:0031324", - "UBERON:0011584", - "UBERON:0004923", - "UPHENO:0080382", - "HP:0001000", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0001690", - "UPHENO:0009396", - "UPHENO:0076752", - "UBERON:0002105", - "UBERON:0013701", - "GO:0032501", - "UPHENO:0026506", - "UBERON:0011595", - "UBERON:0004288", - "UPHENO:0002830", - "BFO:0000141", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0081783", - "UPHENO:0002903", - "UBERON:0000062", - "UPHENO:0081099", - "UPHENO:0049586", - "UPHENO:0081790", - "UPHENO:0082129", - "HP:0001511", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0000152", - "UPHENO:0005986", - "GO:0009987", - "UBERON:0034929", - "UPHENO:0087907", - "UPHENO:0076730", - "UPHENO:0081119", - "HP:0000078", - "UBERON:0003690", - "UPHENO:0018426", - "UBERON:0011158", - "UBERON:0000974", - "UPHENO:0086628", "UBERON:0002428", "UPHENO:0054957", "GO:0008366", @@ -2389,95 +2347,145 @@ "UBERON:0001456", "GO:0010468", "UPHENO:0000541", - "HP:0002032", + "UPHENO:0081790", + "UPHENO:0081099", + "UPHENO:0049586", + "HP:0001317", + "UBERON:0004175", + "HP:0011024", + "UBERON:0011216", + "UBERON:0006333", + "UBERON:0005178", + "GO:0007610", + "HP:0000174", + "GO:0043933", + "UPHENO:0002896", + "HP:0000951", + "RO:0002577", + "UBERON:0010703", + "UBERON:0000955", + "GO:0022010", + "UPHENO:0087563", + "UPHENO:0005016", + "HP:0001883", + "UBERON:0011158", + "UBERON:0000974", + "UPHENO:0086628", + "UPHENO:0080187", + "UBERON:0013702", + "UBERON:0034923", + "UPHENO:0002830", + "UBERON:0011595", + "UBERON:0004288", + "HP:5200045", + "UPHENO:0002433", + "UBERON:0002355", + "UBERON:0003947", + "UBERON:0005174", + "UBERON:0015001", + "HP:0001155", + "UBERON:0004111", + "UPHENO:0080377", + "UBERON:0011137", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0052178", + "HP:0008551", + "HP:0005922", + "HP:0002795", + "UBERON:0001434", + "HP:0007360", + "UPHENO:0075878", + "GO:0048856", + "UPHENO:0072194", + "HP:0009121", + "UBERON:0000015", + "UBERON:0002091", + "HP:0002032", "UPHENO:0086633", "UPHENO:0087974", "HP:0045060", + "UPHENO:0076724", + "UPHENO:0081451", + "HP:0008772", + "GO:0048519", + "UBERON:0006058", "UBERON:0010538", "UBERON:0011249", - "UBERON:0010712", - "UBERON:0002091", + "UBERON:0003975", + "UPHENO:0080099", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0021791", + "UBERON:5002389", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0001440", "UPHENO:0076727", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "HP:0000163", + "UBERON:0002103", + "UPHENO:0080126", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UBERON:0004120", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", "UBERON:0001460", "GO:0040007", "UBERON:0019221", "UBERON:0004381", "UPHENO:0011498", - "UBERON:0013765", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0010708", - "UPHENO:0026628", - "UBERON:0000019", - "UBERON:0003133", - "UBERON:5006048", - "UPHENO:0021791", - "UBERON:5002389", - "GO:0048519", - "HP:0008772", - "UBERON:0006058", - "UPHENO:0076723", - "UPHENO:0055730", - "UPHENO:0002905", - "UBERON:0012475", - "UPHENO:0002880", "UPHENO:0085068", "UBERON:0004708", - "HP:0040012", - "UPHENO:0022529", - "UBERON:0010707", - "UPHENO:0087510", - "UBERON:5002544", - "UBERON:0001062", - "UBERON:0005881", - "UBERON:0010758", - "UBERON:0002193", - "UPHENO:0056237", + "UPHENO:0046571", + "HP:0002086", + "UPHENO:0060026", "UBERON:0007827", "UBERON:0002470", "UBERON:0012139", - "UPHENO:0087349", - "UBERON:0000468", - "UBERON:0002389", - "UPHENO:0085144", - "HP:0000238", - "UPHENO:0087006", - "UPHENO:0076724", - "UPHENO:0081451", - "HP:0005107", "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", - "HP:0008517", - "UBERON:0006314", + "UBERON:0005173", + "UBERON:0003463", "UPHENO:0002536", "HP:0004590", "HP:0030669", + "HP:0005107", "HP:0008678", "GO:0006996", "UBERON:0005179", "UBERON:0003828", - "GO:0060255", - "UBERON:0006075", - "UPHENO:0087501", - "GO:0006725", - "UPHENO:0076800", - "UPHENO:0076695", - "UBERON:0005173", - "UBERON:0003463", - "UBERON:0005177", - "UPHENO:0049990", - "UPHENO:0020659", - "HP:0012243", - "HP:0008518", + "UBERON:0001558", + "HP:0025031", + "UPHENO:0076735", + "UBERON:0000463", "CL:0000081", "UBERON:0000064", "GO:0031326", @@ -2489,227 +2497,218 @@ "UPHENO:0021517", "UPHENO:0081784", "UPHENO:0000543", - "UBERON:0001558", - "UPHENO:0076735", - "UBERON:0000463", + "HP:0002575", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", + "UPHENO:0020748", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", "UBERON:0004247", "UBERON:0000117", - "HP:0011793", - "HP:0002575", - "UBERON:0001005", - "UBERON:0000072", - "UPHENO:0084448", - "UBERON:0001245", - "UBERON:0012140", - "UBERON:0005473", - "UBERON:0000065", - "UBERON:0007811", - "HP:0012252", "UPHENO:0081786", "UBERON:0010913", "UBERON:0001043", "HP:0009777", "UBERON:0004921", "UPHENO:0080662", + "UBERON:0007811", + "HP:0012252", "UPHENO:0075696", "UBERON:0004908", - "HP:0005607", - "HP:0025031", - "HP:0000347", - "UBERON:0005409", - "UPHENO:0086700", - "UPHENO:0020748", - "UBERON:0003126", "HP:0000464", "UBERON:0000915", "UBERON:0005181", "UBERON:0005944", "UPHENO:0003020", - "UBERON:0004768", - "UPHENO:0081141", - "UPHENO:0069523", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0076766", - "UPHENO:0080300", - "UPHENO:0009382", - "UPHENO:0088047", + "UBERON:0005409", "UPHENO:0025945", "UBERON:0006048", "UPHENO:0021304", "HP:0001574", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "HP:0005607", + "UBERON:0001005", + "UPHENO:0056212", "HP:0000153", "UBERON:0001359", "HP:0000104", "UPHENO:0082875", "HP:0011355", - "UPHENO:0056212", + "UPHENO:0088185", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UBERON:0000475", + "UPHENO:0076702", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", "UPHENO:0081598", "UBERON:0000993", "UBERON:0002102", "UPHENO:0003811", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", + "HP:0012759", + "HP:0007018", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", "UPHENO:0025211", "UPHENO:0087548", + "GO:1901360", "UBERON:0000061", "UBERON:0035639", - "GO:1901360", "UPHENO:0056333", "UBERON:0002616", "UPHENO:0026181", "UPHENO:0002964", "UBERON:0001032", "HP:0012443", - "UPHENO:0088185", - "UBERON:0002544", - "UBERON:0007779", - "GO:0021782", - "UPHENO:0087433", - "UBERON:0005358", - "UPHENO:0005597", - "UBERON:0005282", - "UPHENO:0069391", - "UBERON:0001017", - "UBERON:0001270", - "UBERON:0005281", - "UBERON:0000154", - "UPHENO:0088168", - "UBERON:0004451", - "UPHENO:0076805", - "UBERON:0000047", - "GO:0007275", - "HP:0000924", - "UBERON:0004121", - "UBERON:0000475", - "UPHENO:0076702", - "HP:0012759", - "HP:0007018", - "HP:0002118", - "HP:0006503", - "UBERON:0002104", - "UPHENO:0049367", "HP:0000369", "HP:0000118", "UBERON:0000978", + "UPHENO:0049367", "HP:0000465", - "UPHENO:0080221", - "BFO:0000001", - "UPHENO:0002635", - "HP:0001034", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", - "UBERON:0000481", - "HP:0000957", - "HP:0011121", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0074589", "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", - "UPHENO:0062527", - "UPHENO:0086824", - "UBERON:0000161", "HP:0009380", "UPHENO:0074228", "GO:0006807", "UPHENO:0002839", - "UPHENO:0087339", - "HP:0034915", - "HP:0006265", - "UPHENO:0078606", - "HP:0002023", - "UPHENO:0025100", - "HP:0000492", - "UPHENO:0076760", - "UBERON:0001691", - "UPHENO:0086595", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", "UBERON:0034921", - "UBERON:0001004", - "HP:0000315", - "UPHENO:0002910", "HP:0032039", "HP:0000422", "UPHENO:0086932", "UPHENO:0086699", "UBERON:0001819", - "HP:0010938", - "GO:0043170", - "HP:0008050", + "UPHENO:0087472", + "UBERON:0001004", + "HP:0000315", + "HP:0000271", + "UPHENO:0002910", + "UBERON:0000970", + "UBERON:0004742", + "UPHENO:0025100", + "HP:0000492", "UPHENO:0003058", "UBERON:0000025", "UBERON:0004088", - "UBERON:0000970", - "UPHENO:0087472", + "HP:0010938", + "GO:0043170", + "HP:0008050", "UPHENO:0076761", - "HP:0000271", - "HP:0001510", "HP:0001507", + "HP:0001510", "UPHENO:0049874", - "UBERON:5001463", - "UPHENO:0021474", "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", - "UBERON:0010230", - "UPHENO:0002598", - "HP:0100886", - "HP:0011400", - "HP:0012372", - "OBI:0100026", - "UPHENO:0001072", - "UPHENO:0072195", - "HP:0002814", "HP:0001776", - "HP:0005656", - "UPHENO:0081575", "UBERON:0010709", - "HP:0000925", - "UBERON:0008784", + "HP:0005656", + "UPHENO:0072195", + "HP:0002814", "UPHENO:0050008", "HP:0006496", "UPHENO:0003070", - "HP:0011458", - "HP:0002818", - "GO:0071840", - "HP:0002813", - "HP:0002921", - "HP:0000277", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566" + "UPHENO:0081575", + "HP:0000925", + "UBERON:0008784", + "HP:0002692", + "UBERON:0004756" ], "has_phenotype_closure_label": [ "decreased size of the kidney", - "tissue", "Bone marrow hypocellularity", "bone marrow", - "abnormal immune system", - "Abnormality of bone marrow cell morphology", - "bone cell", "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", - "snout", "increased width of the anatomical entity in independent continuant", - "abnormal nasal bridge morphology", - "increased width of anatomical entity", + "snout", "Abnormality of globe size", "Aplasia/Hypoplasia affecting the eye", - "abnormal biological_process in central nervous system", "central nervous system myelination", "gliogenesis", "decreased size of the eyeball of camera-type eye", @@ -2717,173 +2716,178 @@ "oligodendrocyte development", "nervous system development", "glial cell differentiation", - "cellular developmental process", "abnormal myelination in independent continuant", - "abnormal central nervous system 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", - "absent anatomical entity in the renal system", - "abnormal kidney morphology", - "cavitated compound organ", - "abnormal renal system", + "cellular developmental process", "abdomen element", "Abnormality of the kidney", - "Abnormality of the upper urinary tract", - "renal system", + "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 cell morphology", + "abnormal hematopoietic system", "hematopoietic system", + "abnormal cell morphology", "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "abnormal erythrocyte morphology", "oxygen accumulating cell", "hematopoietic cell", - "abnormal hematopoietic system", - "olfactory organ", - "curvature anatomical entity", + "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", - "nose", - "flat nose tip", + "olfactory organ", + "curvature anatomical entity", "Abnormal external nose morphology", - "abnormal 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", - "external male genitalia", - "Abnormal external genitalia", "abnormal penis", "male reproductive system", - "Abnormal renal morphology", - "abnormal external genitalia", - "decreased size of the external male genitalia", - "Orofacial cleft", - "Abnormal oral cavity morphology", - "abnormal oral cavity morphology", - "abnormal midface morphology", "anatomical cavity", - "Craniofacial cleft", "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", - "root", - "abnormal cerebellum 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", - "delayed myelination", - "abnormal hindbrain morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", "abnormal metencephalon morphology", - "Eumetazoa", - "Abnormal metencephalon morphology", - "regional part of brain", - "cerebellum hypoplasia", "Abnormal midface morphology", "regional part of nervous system", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Cerebellar hypoplasia", + "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", - "Aplasia of the uterus", - "female organism", - "reproductive structure", - "aplasia or hypoplasia of uterus", "bone marrow cell", "internal female genitalia", - "Abdominal symptom", - "Abnormal reproductive system morphology", "Wide nasal bridge", "abnormal internal female genitalia morphology", + "female organism", "abnormal female reproductive system", - "female reproductive system", - "Abnormal morphology of female internal genitalia", - "oviduct", - "erythrocyte", - "subdivision of oviduct", - "abnormal uterus", - "genitourinary 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", - "Abnormality of the uterus", - "abnormal biological_process in nervous system", - "absent anatomical entity in the ear", - "absent external ear in the head", - "absent external ear", - "Anotia", - "absent anatomical entity in the head", - "Hypoplastic male external genitalia", - "anatomical structure development", - "decreased developmental process", - "decreased qualitatively developmental process", + "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", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal embryo development", - "Intrauterine growth retardation", "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", - "Aplasia/Hypoplasia of the radius", - "Aplasia/hypoplasia involving forearm bones", - "zeugopod", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "arm bone", - "forelimb long bone", + "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", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", + "limb long bone", + "Aplasia/hypoplasia involving forearm bones", "embryo development", "abnormal radius bone morphology", "Aplasia involving forearm bones", - "Aplasia involving bones of the extremities", - "limb long bone", "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", - "Aplasia/Hypoplasia of the cerebellum", - "forelimb zeugopod", - "forelimb zeugopod skeleton", - "abnormal facial skeleton morphology", - "abnormal nose", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "blood cell", - "Abnormality of the genitourinary system", - "head bone", - "Hypoplastic facial bones", + "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", @@ -2891,57 +2895,103 @@ "immune system", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "Abnormality of the genital system", - "intramembranous bone", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of skull", - "Renal hypoplasia", - "bone of lower jaw", - "mandible hypoplasia", - "flat anatomical entity in independent continuant", - "mouth", - "abnormal mandible morphology", - "abnormal mouth", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "Absent thumb", - "abnormal autopod region morphology", - "subdivision of organism along appendicular axis", - "paired limb/fin", - "skeleton of lower jaw", - "abnormal digit morphology", + "Abnormal mandible morphology", + "paired limb/fin segment", "multi-limb segment region", - "Abnormality of digestive system physiology", - "absent anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "Abnormality of limb bone morphology", - "regulation of cellular metabolic process", - "appendage", - "Abnormal digit morphology", - "cellular process", - "Aplasia/Hypoplasia of fingers", - "delayed biological_process in independent continuant", - "digitopodium 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", - "Hyperactivity", + "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", - "abnormal vertebral column", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "abnormal female reproductive system morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", + "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", @@ -2949,122 +2999,124 @@ "Abnormality of globe location", "Aplasia/Hypoplasia involving the central nervous system", "Short neck", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "postcranial axial skeleton", - "vertebral column", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "paired limb/fin skeleton", - "cervical vertebra", - "organ system subdivision", - "Abnormality of the anus", - "system", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "skeletal element", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "membrane bone", - "abnormal cervical vertebra", - "dentary", + "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", - "skeleton", - "skeletal system", - "cervical vertebra endochondral element", - "decreased length of neck", "Abnormality of the eye", "abnormal pes morphology", - "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "segment of manus", - "protein-containing material entity", - "dorsum", - "cervical region", - "Abnormality of the vertebral column", - "Macule", - "decreased length of anatomical entity in independent continuant", - "abnormal size of anatomical entity", - "abnormal bone marrow cell", - "trunk", - "abnormal shape of continuant", - "nasal bridge", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "abnormal neck morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "external ear", - "Aplasia/Hypoplasia of the ear", - "sensory system", - "Abnormality of the outer ear", - "multi-tissue structure", - "bodily fluid", - "manual digit", - "Abnormal eye morphology", - "abnormal head morphology", - "Abnormality of head or neck", - "Abnormality of the neck", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "Microtia", - "absent digit", - "Abnormal cellular phenotype", - "radius endochondral element", - "abnormal behavior", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "Abnormal forearm morphology", - "vertebra", - "Abnormal skeletal morphology", - "forelimb", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "material anatomical entity", + "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", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Reduced impulse control", - "abnormal location of external ear", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "craniocervical region", + "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", - "Talipes", - "Webbed neck", "quality", - "behavior process", "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", - "manual digit 1", "regulation of metabolic process", + "manual digit 1", "autopodial extension", "abnormal face", "upper urinary tract", @@ -3073,325 +3125,271 @@ "manual digitopodium region", "Abnormal respiratory system morphology", "cervical region of vertebral column", - "pelvic region element", + "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", - "organic cyclic compound metabolic process", + "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", - "pelvic complex", - "abnormal growth", - "abnormal anatomical entity", - "abnormal external nose morphology", - "absent radius bone in the independent continuant", - "neck bone", - "entire sense organ system", - "continuant", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Abnormal axial skeleton morphology", + "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 chromatin organization", - "Chromosome breakage", - "process", - "nucleic acid metabolic process", - "Abnormal myeloid cell morphology", - "leg", - "Atypical behavior", - "cellular metabolic process", - "simple eye", - "endochondral element", - "abnormal neck", - "abnormal brain ventricle morphology", - "subdivision of skeleton", - "endochondral bone", + "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", - "forelimb zeugopod bone", - "nervous system", - "negative regulation of biological process", - "biological_process", - "absent kidney in the independent continuant", - "subdivision of skeletal system", - "entity", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "ensheathment of neurons", - "regulation of cellular process", - "posterior region of body", - "pes", - "aplasia or hypoplasia of external ear", - "Abnormal tracheobronchial morphology", - "Abnormal neck morphology", - "negative regulation of gene expression", - "response to stimulus", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "abnormal nervous system", - "chromatin organization", - "Reduced attention regulation", - "abnormal shape of external ear", - "abnormal limb bone morphology", - "abnormality of nervous system physiology", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "absent anatomical entity in the limb", - "Abnormal mandible morphology", - "trachea", - "Abnormality of the skeletal system", - "upper jaw region", - "Abnormality of the ocular adnexa", - "Micrognathia", - "Attention deficit hyperactivity disorder", - "abnormal leg", - "Cleft palate", - "behavior", - "Abnormal appendicular skeleton morphology", - "Depressed nasal tip", - "Abnormality of mental function", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "postcranial axial skeletal system", - "organelle organization", - "metabolic process", - "Abnormal nasal bridge morphology", - "erythroid lineage cell", - "non-material anatomical boundary", - "midface", - "abnormal cellular component organization", - "abnormal trachea morphology", - "abnormal opening of the anatomical entity", - "dorsal region element", - "body proper", - "abnormal primary metabolic process", - "neck", + "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", - "subdivision of vertebral column", "decreased size of the mandible", + "subdivision of vertebral column", "absent manual digit", "abnormal development of anatomical entity", "Abnormal thumb morphology", "subdivision of trunk", - "abnormal limb bone", - "sense organ", - "Abnormal nervous system morphology", - "limb", - "increased size of the anatomical entity", - "absent anatomical entity in the reproductive system", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "negative regulation of macromolecule biosynthetic process", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "lateral structure", - "regulation of biological process", + "axon ensheathment in central nervous system", + "eye", + "compound organ", "decreased qualitatively biological_process", "anatomical entity", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "dorsal part of neck", - "abnormal cellular process", - "acropodium region", - "abnormally increased number of brain ventricle in the independent continuant", - "Abnormal anus morphology", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", - "secondary palate", - "organism", - "irregular bone", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "Renal agenesis", - "abnormal respiratory system", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "programmed DNA elimination by chromosome breakage", - "cellular component organization or biogenesis", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "obsolete nitrogen compound metabolic process", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "cellular component organization", - "neurogenesis", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", "digit", - "anterior region of body", - "aplastic anatomical entity", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "thoracic cavity element", - "Growth abnormality", - "axial skeletal system", - "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", - "Abnormality of metabolism/homeostasis", - "abnormal ear morphology", - "cellular organisms", - "Decreased anatomical entity position", - "main body axis", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "eyelid", - "Abnormality of the ear", - "orbital region", - "protein-DNA complex organization", - "vestibulo-auditory system", - "non-connected functional system", - "Aplasia/hypoplasia of the extremities", - "forelimb bone", - "anatomical entity hypoplasia", - "head", - "abnormal eyelid morphology", - "manus", - "curvature anatomical entity in independent continuant", - "negative regulation of cellular process", - "abnormal limb", - "Abnormality of digestive system morphology", - "ear", - "organism subdivision", + "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", - "abnormal central nervous system myelination", - "organ subunit", - "negative regulation of cellular biosynthetic process", - "appendage girdle complex", - "subdivision of head", - "Abnormality of brain morphology", + "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", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", "dermal skeleton", "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the manus", - "Finger aplasia", + "anatomical conduit", + "abnormal limb morphology", "abdomen", "manual digit 1 plus metapodial segment", "trunk bone", "bone of appendage girdle complex", "anatomical wall", - "lower jaw region", - "abnormal digit", - "thoracic segment of trunk", - "abnormal arm", "arm", - "limb segment", - "increased qualitatively biological_process in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "dermatocranium", - "pectoral complex", - "paired limb/fin segment", - "axon ensheathment in central nervous system", - "compound organ", - "eye", - "cell differentiation", - "appendicular skeletal system", - "Abnormal palate morphology", - "skeleton of pectoral complex", - "appendicular skeleton", - "Unilateral renal agenesis", - "Abnormal cerebellum morphology", - "upper limb segment", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "developmental process", - "negative regulation of metabolic process", - "abdominal segment bone", - "manual digit 1 or 5", - "autopod region", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "anatomical conduit", - "abnormal limb morphology", "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", - "fused sacrum hypoplasia", - "abnormal fused sacrum morphology", + "Aplasia/Hypoplasia of the sacrum", "Global developmental delay", "biological regulation", "abdominal segment of trunk", - "macromolecule metabolic process", - "pelvic region of trunk", - "palpebral fissure", + "bony pelvis", "bone element hypoplasia in independent continuant", "abnormal penis morphology", "hindlimb", - "aplasia or hypoplasia of fused sacrum", - "Aplasia/Hypoplasia of the sacrum", - "Delayed CNS myelination", - "fused sacrum", - "abnormal craniocervical region", - "sacral region of vertebral column", - "Abnormal upper limb bone morphology", - "skin of body", - "bony pelvis", - "skull", - "limb skeleton subdivision", - "Aplasia/Hypoplasia involving the vertebral column", "Aplasia/Hypoplasia of facial bones", "musculoskeletal system", "abnormal cellular metabolic process", "Hypoplastic sacrum", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", + "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", - "abnormal bone marrow morphology", - "flat anatomical entity", - "lower respiratory tract", - "abnormality of respiratory system physiology", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal tracheal 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", @@ -3400,40 +3398,38 @@ "programmed DNA elimination", "digestive system", "subdivision of tube", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Abnormality of the respiratory system", - "Aplasia/Hypoplasia of the external ear", - "trunk region element", - "endoderm-derived structure", + "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", - "thoracic segment organ", - "Abnormal esophagus morphology", - "abnormal tracheobronchial tree morphology", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "penis", - "digestive system element", - "kidney", - "abnormal biological_process", - "Growth delay", + "respiratory tube", "abnormal nose tip morphology", "alimentary part of gastrointestinal system atresia", "respiratory tract", - "respiratory tube", "forelimb endochondral element", "primary metabolic process", "Abnormality of the skin", - "abnormal alimentary part of gastrointestinal system", - "oral cavity", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal respiratory system physiology", - "tube", - "respiratory airway", + "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", @@ -3442,142 +3438,146 @@ "delayed biological_process", "Abnormality of the cervical spine", "abnormal digestive system", - "cerebrospinal fluid", - "Abnormality of the head", - "organic substance metabolic process", - "abnormal pigmentation", + "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", - "Abnormality of the urinary system", - "abnormal anus morphology", - "Morphological central nervous system abnormality", - "organ component layer", "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", - "abnormally increased number of anatomical entity", "abnormal central nervous system morphology", "transudate", "Cafe-au-lait spot", "increased length of the anatomical entity", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", "myelination", "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal nervous system morphology", - "bone of craniocervical region", - "structure with developmental contribution from neural crest", - "Abnormal cerebral ventricle morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Positional foot deformity", - "external ear hypoplasia", - "abnormal brain ventricle/choroid plexus morphology", - "anatomical point", - "ventricle of nervous system", - "subdivision of organism along main body axis", - "dermal skeletal element", "Gastrointestinal atresia", "abnormal location of anatomical entity", "abnormal location of ear", "abnormal ocular adnexa", - "Decreased external ear position", "abnormal anatomical entity topology in independent continuant", - "abnormal integument", - "brain ventricle", - "eyeball of camera-type eye", - "abnormal anatomical entity morphology", - "increased pigmentation", + "Decreased external ear position", "external nose", "changed biological_process rate", "increased biological_process in skin of body", "abnormal external ear", "increased biological_process", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "Neurodevelopmental delay", - "abnormal skin of body", "increased size of the anatomical entity in independent continuant", "Abnormality of the integument", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "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", - "neural crest-derived structure", + "abnormal anatomical entity morphology", + "increased pigmentation", "Phenotypic abnormality", "increased pigmentation in skin of body", "abnormal hindlimb morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "abnormal anus", "abnormal response to stimulus", "abnormal closing of the anatomical entity", - "abnormal anus", "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", - "increased length of the anatomical line between pupils", - "multi organ part structure", - "roof of mouth", - "Abnormality of the orbital region", - "camera-type eye", "reproductive organ", "abnormal skull morphology", "anus atresia", "abnormal palpebral fissure", - "Abnormal ocular adnexa morphology", - "manual digit plus metapodial segment", - "Upslanted palpebral fissure", - "ocular adnexa", - "Abnormality of the face", "abnormal face morphology", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", + "ocular adnexa", + "camera-type eye", "delayed growth", - "increased anatomical entity length in independent continuant", "abnormal eyeball of camera-type eye", - "anatomical line", + "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", - "Talipes equinovarus", "Aplasia/hypoplasia of the uterus", "Hyperpigmentation of the skin", "Bilateral talipes equinovarus", - "flattened anatomical entity", - "abnormal manus", - "bone element hypoplasia in face", - "segmental subdivision of hindbrain", - "digit 1 or 5", - "bone of jaw", - "facial bone hypoplasia", - "cell", - "Abnormality of the mouth", - "anus", - "Abnormal skull morphology", "aplasia or hypoplasia of mandible", - "abnormal head", - "jaw region", - "abnormal male reproductive system", - "abnormal mouth morphology" + "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, @@ -3686,114 +3686,97 @@ "Horseshoe kidney" ], "has_phenotype_closure": [ - "UPHENO:0041226", "HP:0000085", + "UPHENO:0041465", "UPHENO:0082444", + "UPHENO:0041226", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0041465", - "HP:0003254", - "HP:0003213", - "UPHENO:0049964", - "UPHENO:0051124", "GO:0051716", "GO:0006950", - "GO:0051319", + "HP:0003213", + "UPHENO:0051124", + "HP:0003254", + "UPHENO:0049964", "GO:0007049", - "GO:0050954", - "UPHENO:0041075", - "GO:0007600", - "HP:0000598", - "GO:0007605", + "GO:0051319", "UPHENO:0050625", "HP:0000364", + "GO:0007605", "UPHENO:0005518", + "HP:0000598", + "GO:0050954", "UPHENO:0052970", "UBERON:0002105", - "NBO:0000338", - "UPHENO:0049586", - "HP:0000708", - "UPHENO:0049622", + "UPHENO:0041075", + "GO:0007600", "GO:0007610", - "HP:0000486", - "UBERON:0006800", - "BFO:0000141", + "HP:0000708", "HP:0000549", - "HP:0000496", + "HP:0000486", + "UPHENO:0049622", "NBO:0000444", + "HP:0000496", "UBERON:0010222", - "UPHENO:0079828", "UPHENO:0080585", - "GO:0050896", + "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:0080351", "UPHENO:0075159", "HP:0000081", "UPHENO:0075787", + "HP:0002664", + "HP:0011793", "HP:0001909", "HP:0004377", - "HP:0011793", - "HP:0002664", - "UBERON:0000477", - "GO:0008015", + "HP:0002597", "HP:0001892", "HP:0011029", - "HP:0002597", "UPHENO:0002678", - "GO:0003013", + "UBERON:0000477", "HP:0000978", "UPHENO:0051097", "HP:0001933", "UBERON:0007798", - "UPHENO:0084447", + "GO:0003013", + "GO:0008015", + "HP:0009943", + "HP:0011314", "HP:0009602", + "UPHENO:0087369", + "HP:0009942", "UBERON:0003221", "UBERON:0012357", - "HP:0011314", - "HP:0009943", "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0087369", - "HP:0009942", "UPHENO:0021800", + "UPHENO:0084447", "GO:0022403", "UBERON:0004249", "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "GO:0010556", - "GO:0031326", - "GO:0009890", - "HP:0011276", - "UBERON:0005897", - "GO:0010605", - "GO:0031324", - "GO:0006259", - "GO:0071824", + "GO:0005623", + "UPHENO:0049873", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0010629", "GO:0065007", "UPHENO:0080581", "UPHENO:0050021", - "GO:0010629", - "GO:0051325", - "GO:0060255", - "GO:0009889", - "GO:0031323", - "UBERON:0004100", - "GO:0009892", - "UBERON:0012150", - "GO:0090304", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049700", "UPHENO:0000541", "UBERON:0001436", "GO:0010468", @@ -3801,151 +3784,174 @@ "GO:0010558", "GO:0031327", "GO:0006325", - "GO:0019222", - "HP:0011354", - "GO:0006139", - "GO:0046483", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", + "UPHENO:0049700", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "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", - "UPHENO:0049873", - "GO:0008152", - "HP:0000365", - "GO:0009987", + "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:0001263", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0082794", "GO:0040007", "UPHENO:0049874", + "UPHENO:0010763", "UBERON:0010543", "HP:0001507", - "UPHENO:0082794", - "UPHENO:0010763", "UPHENO:0054299", - "GO:0006974", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0020041", - "HP:0000271", + "UBERON:0000047", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0004088", + "UBERON:0004456", "UPHENO:0069523", - "UBERON:0000020", - "UPHENO:0087472", + "UPHENO:0080209", "GO:0033554", "UBERON:0000970", "UBERON:0001456", - "UBERON:0004088", - "HP:0000568", - "UBERON:0004456", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", "UPHENO:0087924", "HP:0100887", "HP:0000478", "UPHENO:0002910", + "UPHENO:0020041", + "HP:0000271", "HP:0011025", "HP:0000315", - "UPHENO:0080209", - "HP:0001896", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", "HP:0004312", + "HP:0001896", "UPHENO:0086002", "UPHENO:0049588", "CL:0000558", "UPHENO:0046505", + "UPHENO:0088186", "HP:0009381", - "UPHENO:0012541", "UPHENO:0002433", "CL:0000233", - "GO:0008150", - "UPHENO:0020888", + "UPHENO:0026506", "UBERON:0015061", "UBERON:0003129", - "UPHENO:0026506", - "UPHENO:0080325", - "UPHENO:0002642", - "UBERON:0015203", - "NCBITaxon:2759", - "UPHENO:0084448", + "UBERON:0010708", "UBERON:0012139", - "UPHENO:0082761", - "CL:0000738", - "HP:0000027", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", "NBO:0000001", "UBERON:0034925", "UPHENO:0088176", - "UPHENO:0026183", - "UPHENO:0002905", - "UPHENO:0076723", - "UBERON:0010363", - "HP:0002977", - "HP:0009777", - "UBERON:0010708", - "UBERON:0002204", - "UPHENO:0086700", - "UPHENO:0086019", "UBERON:0019221", "GO:0044848", "UBERON:0001460", "UBERON:0002513", "UBERON:0011138", "GO:0022414", - "UPHENO:0076727", - "HP:0005927", - "UBERON:0003101", - "HP:0045060", - "UPHENO:0086633", + "NCBITaxon:2759", "UBERON:0006717", "UPHENO:0001003", "UPHENO:0076810", - "HP:0009815", - "UPHENO:0080352", - "UBERON:0000075", - "CL:0000775", - "UPHENO:0088186", + "CL:0000225", "UBERON:0011582", "GO:0006996", "HP:0008678", "UPHENO:0085263", "UPHENO:0052178", - "CL:0000225", - "UBERON:0001440", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "GO:0003008", - "UBERON:0010538", - "HP:0001167", - "HP:0040064", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", + "UBERON:0002204", "UPHENO:0080300", "UPHENO:0009382", "UBERON:0004708", "UPHENO:0085068", "UPHENO:0021474", "UBERON:5001463", - "UBERON:0012140", - "UBERON:0005451", - "UBERON:0019231", - "UPHENO:0002844", - "BFO:0000015", - "UPHENO:0049587", - "UBERON:0000026", + "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", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", "UPHENO:0049952", "HP:0040068", "UPHENO:0002708", "UBERON:0012141", + "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", @@ -3955,19 +3961,18 @@ "GO:0034641", "HP:0000929", "HP:0010461", - "UBERON:0000153", - "GO:0043933", - "UPHENO:0002896", - "UBERON:0001434", - "UPHENO:0050008", - "HP:0006496", - "HP:0009778", - "UPHENO:0081435", - "PATO:0000001", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "HP:0012638", + "UPHENO:0053644", + "UBERON:8450002", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "UBERON:0003103", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0088321", "UPHENO:0049367", "UPHENO:0075997", "UBERON:0002371", @@ -3976,63 +3981,70 @@ "HP:0012373", "HP:0100542", "UBERON:0000916", - "UPHENO:0084763", - "HP:0010935", - "UPHENO:0088148", - "UPHENO:0049940", - "UPHENO:0085984", - "UBERON:0005173", - "UBERON:0005177", - "UBERON:0002049", - "UBERON:0001016", - "HP:0011446", + "UPHENO:0002803", + "UBERON:0005172", + "CL:0001035", + "BFO:0000040", "UPHENO:0084766", "UBERON:0015212", - "BFO:0000040", - "BFO:0000004", - "UBERON:8450002", - "UPHENO:0053644", - "UPHENO:0085195", - "UBERON:0010000", - "UBERON:0002390", + "UPHENO:0059829", + "HP:0011991", "UBERON:0011250", "UPHENO:0086176", "UBERON:0010758", "UPHENO:0087846", - "UBERON:5006048", - "UBERON:0003133", - "UBERON:0003103", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UPHENO:0085984", "HP:0020047", "GO:0007276", - "HP:0005561", - "HP:0010987", - "HP:0011893", - "HP:0000001", - "UPHENO:0074584", - "UBERON:0001442", - "GO:0032501", - "UBERON:0013701", + "HP:0001874", + "UPHENO:0076692", + "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", - "HP:0001874", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0012151", - "HP:0011017", - "NCBITaxon:33208", - "CL:0000081", - "UPHENO:0002598", - "UPHENO:0063722", - "UBERON:0002398", - "UBERON:0009569", - "UPHENO:0088335", - "HP:0000924", - "UBERON:0004121", + "UPHENO:0001002", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "UBERON:0008785", + "CL:0000255", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", "GO:0043170", "HP:0011961", "UPHENO:0077426", @@ -4041,12 +4053,6 @@ "UPHENO:0076724", "UPHENO:0081451", "UBERON:0002101", - "UPHENO:0002406", - "UBERON:0001444", - "UPHENO:0018390", - "UBERON:0002193", - "HP:0000077", - "UBERON:0002199", "HP:0000152", "GO:0048523", "HP:0000079", @@ -4054,265 +4060,255 @@ "UPHENO:0085330", "UPHENO:0076703", "HP:0003974", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002371", - "UBERON:0008785", - "CL:0000255", - "UPHENO:0001002", - "UBERON:0000062", + "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:0005881", - "UBERON:0001062", - "UPHENO:0088321", - "UBERON:5002544", - "UPHENO:0087510", - "GO:0006281", - "BFO:0000002", - "HP:0012639", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0000467", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UPHENO:0002903", - "CL:0002092", - "UPHENO:0081466", + "UBERON:0008962", + "HP:0012210", + "UBERON:0001463", "HP:0001877", "UBERON:0002389", "UPHENO:0087349", "UBERON:0000468", - "UPHENO:0076779", - "UPHENO:0020950", - "UPHENO:0085344", - "UBERON:0004120", - "HP:0005922", - "UBERON:0005178", - "UPHENO:0049701", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "HP:0012638", "UPHENO:0079876", "UPHENO:0053580", "UBERON:0011143", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0002803", - "UBERON:0005172", - "CL:0001035", - "HP:0011991", - "UPHENO:0059829", - "HP:0002715", - "HP:0011297", - "HP:0003214", - "UPHENO:0085118", - "UBERON:0002113", - "UPHENO:0012274", - "UPHENO:0087006", - "UPHENO:0085144", - "UBERON:0034923", - "UBERON:0004054", - "UPHENO:0087802", - "UBERON:0012358", - "CL:0000000", - "UBERON:0002470", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0086016", + "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", - "UPHENO:0085371", - "HP:0025354", - "CL:0002242", - "UPHENO:0085405", - "HP:0010974", - "UPHENO:0085070", - "CL:0000019", - "UPHENO:0080114", - "UPHENO:0005433", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0087427", - "UPHENO:0076739", - "UPHENO:0025100", - "UBERON:0002529", - "UPHENO:0088318", - "HP:0000135", - "UPHENO:0085194", - "UBERON:0003607", - "HP:0011844", - "HP:0007364", - "UPHENO:0080079", - "UPHENO:0004523", - "HP:0009115", - "GO:0031049", - "UBERON:0002075", - "UPHENO:0086172", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0002219", - "UPHENO:0006910", - "UPHENO:0076805", - "UPHENO:0085189", "UBERON:0012475", "UPHENO:0002880", "HP:0001518", "HP:0100547", "HP:0032309", + "UPHENO:0087427", + "CL:0002242", + "UPHENO:0085405", "UPHENO:0078606", "HP:0006265", "UPHENO:0087123", - "UPHENO:0035025", - "UBERON:0000479", - "UBERON:0000465", - "CL:0000988", - "HP:0012372", - "HP:0002060", + "UPHENO:0087802", + "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", + "UBERON:0015001", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", + "UPHENO:0076805", + "UPHENO:0085189", "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", "HP:0000086", "CL:0000766", - "UBERON:0002091", - "UPHENO:0020584", + "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", - "UPHENO:0046624", - "UBERON:0004381", - "UPHENO:0011498", - "UBERON:0002544", - "UPHENO:0002948", - "HP:0000815", - "GO:0032504", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0050108", - "HP:0100543", - "CL:0000408", - "GO:0007283", - "UPHENO:0075220", - "UPHENO:0087907", - "HP:0006501", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", + "UBERON:0001440", + "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", - "UPHENO:0086589", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", "UPHENO:0080377", "UBERON:0011137", "UBERON:0000489", "UBERON:0010323", - "UBERON:0002090", - "GO:0048232", - "UBERON:0001017", - "UBERON:0001032", - "UPHENO:0026181", - "UPHENO:0002964", - "HP:0012443", - "UBERON:0002616", - "UPHENO:0054970", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", "HP:0012758", "HP:0002011", "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0080200", - "UBERON:0001890", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000033", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0000475", - "UPHENO:0076702", - "UBERON:0007811", - "UPHENO:0088338", - "UPHENO:0050101", - "UPHENO:0075195", - "HP:0009121", - "UPHENO:0080362", - "BFO:0000001", - "UPHENO:0002635", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002616", + "HP:0012443", "HP:0001626", - "UBERON:0001009", "UBERON:0000948", - "UPHENO:0005016", - "UBERON:0007100", - "NCBITaxon:6072", - "UPHENO:0076776", + "BFO:0000001", + "UPHENO:0002635", "UBERON:0000915", "UBERON:0005181", + "UPHENO:0080362", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0001009", "HP:0030680", - "UPHENO:0080221", + "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", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0002416", "UBERON:0002102", "UPHENO:0003811", - "UBERON:0000481", - "HP:0000957", - "HP:0009823", - "HP:0011121", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", "HP:0000002", "UPHENO:0076740", "HP:0000953", "UBERON:0004710", "UPHENO:0088162", - "UPHENO:0074589", "GO:0050794", "UPHENO:0085875", - "UBERON:0003460", - "HP:0012733", - "UPHENO:0026023", - "HP:0001574", - "RO:0002577", - "HP:0000951", - "UPHENO:0085076", - "GO:0043473", + "HP:0011121", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0003055", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "HP:0000078", "HP:0011028", "UBERON:0010712", "HP:0000080", - "UPHENO:0003055", - "UBERON:0005156", - "UPHENO:0080126", - "UBERON:0015204", + "UPHENO:0066972", + "UBERON:0000990", "UPHENO:0003020", "UBERON:0005944", "UBERON:0000991", - "HP:0001903", - "UPHENO:0004459", - "UPHENO:0003116", - "UPHENO:0066972", - "HP:0000818", - "UBERON:0000990", "HP:0008373", - "HP:0000118", - "HP:0001876", - "UPHENO:0024906", - "HP:0000078", + "UPHENO:0080126", + "UBERON:0015204", + "HP:0000818", + "UBERON:0005156", "UPHENO:0082875", "HP:0011355", "HP:0000104", @@ -4327,251 +4323,252 @@ "CL:0000232", "UBERON:0004375", "HP:0011873", - "UPHENO:0054261", - "NCBITaxon:131567", - "HP:0001017", "UPHENO:0087089", "CL:0000764", "UBERON:0001474", "CL:0000329", - "UBERON:0001690", - "UBERON:0015410", - "UPHENO:0086173", - "CL:0000457", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", "UPHENO:0086045", "HP:0011875", - "UPHENO:0087355", - "UPHENO:0087339", - "UBERON:0011584", - "UPHENO:0084987", "UPHENO:0085042", "HP:0012145", - "UPHENO:0084761", - "HP:0001872", + "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", - "GO:0048519", - "UBERON:0006058", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0086201", - "HP:0001000", - "UPHENO:0080382", - "GO:0003006", + "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", - "UPHENO:0052231", - "HP:0000028", "HP:0001627", "UPHENO:0049970", - "GO:0000003", - "HP:0000811", - "HP:0005918", - "HP:0012243", + "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", - "UBERON:0011676", "HP:0002973", + "UBERON:0011676", "HP:0000025", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0004288", "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", - "HP:0008669", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UPHENO:0079826", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", "UPHENO:0086635", "HP:0000240", "HP:0000812", "UBERON:0015021", "UBERON:0002386", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0041821", - "HP:0009825", - "UPHENO:0052778", - "GO:0050877", - "HP:0011927", + "UPHENO:0086198", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", "UBERON:0015063", "UPHENO:0078729", "UBERON:0000463", "UPHENO:0078452", - "UPHENO:0053298", - "HP:0001249", - "UBERON:0001968", - "GO:0048609", - "HP:0003953", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", + "HP:0005918", + "HP:0012243", + "UBERON:0013702", + "UPHENO:0080187", "UBERON:0000955", "UBERON:0010703", + "GO:0006725", + "UPHENO:0087501", "UBERON:0010912", "CL:0000094", "HP:0040072", - "UPHENO:0086956", - "GO:0071840", - "HP:0002813", - "HP:0002818", "UPHENO:0079872", "UPHENO:0009341", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0013702", - "UPHENO:0080187", + "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", - "UBERON:0001423", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", "UBERON:0010741", "UPHENO:0069254", "UBERON:0000949", "UBERON:0003466", - "HP:0001911", - "UBERON:0006048", - "UPHENO:0025945", - "UPHENO:0005651", - "UPHENO:0076718", - "HP:0040070", - "UPHENO:0008668", - "UPHENO:0068971", - "UPHENO:0046411", + "UPHENO:0012541", "HP:0004325", - "UPHENO:0031839" + "UPHENO:0031839", + "UPHENO:0046411", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "UPHENO:0008668", + "UPHENO:0068971" ], "has_phenotype_closure_label": [ - "shape anatomical entity", "Horseshoe kidney", + "shape anatomical entity", "3-D shape anatomical entity", "U-shaped anatomical entity", - "DNA repair", - "Deficient excision of UV-induced pyrimidine dimers in DNA", "abnormal response to stress", + "DNA repair", + "response to stress", "abnormal cellular response to stress", "abnormal DNA repair", - "response to stress", - "cell cycle phase", + "Deficient excision of UV-induced pyrimidine dimers in DNA", "Abnormality of the cell cycle", "G2 phase", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormal ear", + "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", - "anatomical line", - "immaterial anatomical entity", - "Strabismus", - "abnormal response to stimulus", "response to stimulus", - "behavior process", - "abnormal eye movement", "eye movement", - "behavior", - "delayed biological_process", - "Short stature", + "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", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Neoplasm", "Hematological neoplasm", - "Generalized abnormality of skin", - "Internal hemorrhage", + "vasculature", "Abnormality of the vasculature", "blood circulation", - "Vascular skin abnormality", - "Abnormality of blood circulation", - "vasculature", - "abnormality of cardiovascular system physiology", - "Abnormal bleeding", "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", + "manual digit bone", "Duplication of bones involving the upper extremities", - "phalanx", "phalanx endochondral element", "manual digit phalanx endochondral element", - "abnormal phalanx morphology", - "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", + "abnormal phalanx morphology", "acropodial skeleton", - "manual digit bone", + "abnormal phalanx of manus morphology", + "Abnormality of thumb phalanx", + "phalanx", "digit 1 digitopodial skeleton", "manual digit digitopodial skeleton", "digitopodium bone", "skeleton of manual acropodium", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", + "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", - "Abnormality of DNA repair", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "cellular response to stimulus", - "Chromosomal breakage induced by crosslinking agents", + "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", @@ -4583,125 +4580,103 @@ "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "abnormal growth", + "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", - "decreased anatomical entity mass", - "abnormal size of eyeball of camera-type eye", + "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", - "Abnormality of the face", - "simple eye", - "sensory system", + "abnormal camera-type eye morphology", "Abnormality of the eye", "abnormal face", - "sense organ", - "eyeball of camera-type eye", - "camera-type eye", - "Microphthalmia", "orbital region", - "Abnormality of the orbital region", "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", + "abnormal size of eyeball of camera-type eye", "visual system", - "abnormally decreased number of reticulocyte", - "reticulocyte", - "multicellular organismal reproductive process", - "Non-obstructive azoospermia", - "axial skeleton plus cranial skeleton", + "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", - "system process", - "abnormal limb morphology", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "organ", - "cellular response to stress", - "appendicular skeleton", - "upper limb segment", - "appendicular skeletal system", - "arm", - "endochondral bone", - "subdivision of skeleton", - "Abnormal cardiovascular system physiology", - "Aplasia/Hypoplasia of the radius", - "entity", - "negative regulation of cellular process", - "abnormal limb", - "manus", - "head", - "abnormal digit", - "thoracic segment of trunk", + "axial skeleton plus cranial skeleton", "Abnormal appendicular skeleton morphology", "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "system", - "aplasia or hypoplasia of manual digit 1", - "bone of appendage girdle complex", - "Abnormal finger phalanx morphology", - "pigmentation", + "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 limb bone morphology", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "occurrent", + "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", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", + "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", - "paired limb/fin skeleton", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "digit plus metapodial segment", - "Cognitive impairment", - "abnormal male reproductive system", - "paired limb/fin", - "anatomical collection", - "All", - "increased qualitatively biological_process", - "Aplasia involving bones of the extremities", - "forelimb", - "Abnormal forebrain morphology", - "abnormal digit morphology", - "abnormal manus", - "multi-limb segment region", - "endochondral element", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "digit", - "Hyperpigmentation of the skin", - "manual digit plus metapodial segment", - "abnormal skeletal system", - "digit 1 plus metapodial segment", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "limb", "Neoplasm by anatomical site", "Decreased anatomical entity mass", @@ -4711,82 +4686,87 @@ "skeleton", "male gamete generation", "absent anatomical entity", - "regulation of metabolic process", - "Decreased body weight", - "autopodial extension", - "manual digit 1", - "abnormal immune system morphology", - "skeletal system", - "motile cell", - "Abnormality of limbs", - "Abnormality of limb bone morphology", "Abnormal digit morphology", - "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 cellular metabolic process", - "musculoskeletal system", - "abnormal upper urinary tract", - "abnormally decreased number of myeloid cell", - "aplastic anatomical entity", - "face", - "aplasia or hypoplasia of manual digit", + "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", - "abnormal anatomical entity morphology in the manus", - "cardiovascular system", - "acropodium region", - "Intellectual disability", - "bone marrow", + "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", - "anatomical system", - "material anatomical entity", - "Hypergonadotropic hypogonadism", - "abnormal enucleated reticulocyte morphology", - "nucleate cell", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "sexual reproduction", - "organ system subdivision", - "abnormal blood cell", - "erythrocyte", - "Macule", - "renal system", - "abnormal kidney morphology", - "main body axis", - "decreased spermatogenesis", - "quality", "abnormal manus morphology", - "abnormally decreased number of hematopoietic cell", - "phenotype by ontology source", + "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", - "Aplasia/Hypoplasia of fingers", "digitopodium region", + "Aplasia/Hypoplasia of fingers", "abnormal myeloid cell morphology", "increased biological_process", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", - "absent digit", - "phenotype", - "Abnormal cell morphology", - "abnormal arm", - "Atypical behavior", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "hemolymphoid system", - "Aplasia/hypoplasia involving the skeleton", + "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", @@ -4798,18 +4778,69 @@ "Abnormal cerebral morphology", "abnormal blood circulation", "arm bone", - "Short thumb", - "enucleated reticulocyte", - "Abnormality of the kidney", + "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", - "abnormal immune system", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "abnormal leukocyte morphology", - "anatomical line between pupils", - "independent continuant", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "abnormal renal system morphology", "abnormal forelimb morphology", "abnormal location of anatomical entity", @@ -4817,29 +4848,27 @@ "Hypermelanotic macule", "abnormal bone marrow morphology", "reproduction", - "trunk region element", - "cell cycle", - "pectoral complex", - "Anemic pallor", "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "Abnormal cellular immune system morphology", - "Abnormal nervous system physiology", - "Abnormality of the immune system", "regulation of macromolecule biosynthetic process", - "multicellular organism", "Thrombocytopenia", - "skeletal element", - "zeugopod", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "external genitalia", - "renal collecting system", - "Ectopic kidney", - "subdivision of head", - "appendage girdle complex", - "Renal hypoplasia/aplasia", + "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", @@ -4847,9 +4876,9 @@ "Abnormality of neutrophils", "leukocyte", "abnormal gamete generation", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "continuant", + "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", @@ -4857,71 +4886,15 @@ "negative regulation of biosynthetic process", "material entity", "long bone", - "regional part of nervous system", - "Abnormal conjugate eye movement", - "forelimb bone", - "non-connected functional system", - "abdominal segment element", - "abnormal reproductive system morphology", - "abnormal hematopoietic system", - "Renal agenesis", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "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", - "abnormal central nervous system morphology", - "abnormal renal collecting system", - "abnormal number of anatomical enitites of type neutrophil", - "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", - "cognition", - "appendage", - "root", - "abnormally localised anatomical entity in independent continuant", - "abnormality of nervous system physiology", - "organism subdivision", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "Abnormal eye physiology", - "segment of autopod", - "reproductive system", - "aplastic manual digit 1", - "skeleton of pectoral complex", - "abnormally localised anatomical entity", - "hematopoietic cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic cell morphology", - "viscus", - "Abnormal granulocyte morphology", - "Abnormal cellular phenotype", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Complete duplication of phalanx of hand", - "limb bone", - "granulocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal nervous system", "paired limb/fin segment", "abnormality of camera-type eye physiology", "immune system", - "abnormally decreased number of leukocyte in the independent continuant", "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "Absent forearm bone", "Leukemia", "abnormal cell morphology", @@ -4937,6 +4910,34 @@ "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", @@ -4944,6 +4945,9 @@ "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", @@ -4953,94 +4957,83 @@ "compound organ", "zeugopodial skeleton", "limb long bone", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", "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", - "circulatory system process", - "cavitated compound organ", - "Abnormal leukocyte count", - "manual digit 1 plus metapodial segment", - "abdomen", - "limb endochondral element", - "abnormally decreased number of cell", - "abnormal myeloid leukocyte morphology", + "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 nervous system", + "abnormal hematopoietic cell morphology", "biological phase", "autopod bone", "mesoderm-derived structure", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", + "abnormal manus", + "craniocervical region", + "abnormal forebrain morphology", "multi-tissue structure", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal skull morphology", "abnormal craniocervical region morphology", "immaterial entity", "Abnormality of chromosome stability", "anatomical entity dysfunction in independent continuant", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "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", - "craniocervical region", + "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", - "Abnormality of brain morphology", - "nervous system", - "forelimb zeugopod bone", - "kinesthetic behavior", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal forebrain morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "telencephalon", - "Growth abnormality", - "axial skeletal system", - "abnormal skull morphology", - "reproductive organ", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased developmental process", - "postcranial axial skeleton", - "Abnormal renal collecting system morphology", - "decreased qualitatively developmental process", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Decreased head circumference", + "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", @@ -5048,43 +5041,52 @@ "Abnormal axial skeleton morphology", "non-material anatomical boundary", "erythroid lineage cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", + "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", - "heart plus pericardium", - "Cryptorchidism", + "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", - "abnormal integument", - "Cafe-au-lait spot", - "abnormally decreased number of anatomical entity in the independent continuant", - "abnormal anatomical entity morphology", - "increased pigmentation", - "Neutropenia", - "reproductive structure", "changed biological_process rate", "increased biological_process in skin of body", "absent germ cell", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", + "Abnormality of the integument", "Neurodevelopmental delay", "abnormal skin of body", - "Abnormality of the integument", "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", - "integumental system", - "integument", - "absent radius bone in the forelimb", "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", @@ -5093,32 +5095,31 @@ "germ line cell", "abnormal pigmentation in independent continuant", "Abnormal forearm bone morphology", - "increased pigmentation in independent continuant", - "organic substance metabolic process", - "Abnormality of the head", - "heart", - "abnormal pigmentation", + "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", - "Abnormality of the genital system", + "abnormal endocrine system", + "abnormally decreased number of reticulocyte", + "Abnormality of the endocrine system", "Abnormality of reproductive system physiology", "gamete", - "Abnormality of the endocrine system", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "glandular system", "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", - "oxygen accumulating cell", "abnormal erythrocyte morphology", + "oxygen accumulating cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", "manus bone", "radius bone", "Abnormality of the hand", @@ -5126,130 +5127,129 @@ "abnormal shape of continuant", "trunk", "abnormal bone marrow cell", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", "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", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "Prolonged G2 phase of cell cycle", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", "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", - "digit 1", - "abnormal platelet morphology", + "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", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "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", - "abnormal internal genitalia", - "abnormal cell", - "disconnected anatomical group", - "male reproductive organ", - "internal genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "haploid cell", + "absent gamete", + "sperm", "abnormal gamete", "Reticulocytopenia", - "abnormal testis morphology", - "forelimb zeugopod", - "interphase", - "semen", "organism substance", - "Abnormal external genitalia", + "haploid cell", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "internal genitalia", + "abnormal internal genitalia", "platelet", "absent sperm in the independent continuant", - "male germ cell", - "abnormal granulocyte morphology", - "Azoospermia", "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", - "testis", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive 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", - "sperm", - "absent gamete", - "developmental process involved in reproduction", - "Abnormality of male external genitalia", - "abnormal male reproductive system morphology", - "Abnormal testis morphology", + "abnormal granulocyte morphology", + "Azoospermia", "absent anatomical entity in the independent continuant", "abnormally localised testis", - "reproductive process", - "shape kidney", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "forelimb zeugopod skeleton", + "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", - "abnormal radius bone morphology", - "Absent radius", - "aplastic forelimb zeugopod bone", - "abnormal size of skull", - "forelimb long bone", "sensory perception of mechanical stimulus", "abnormally decreased number of anatomical entity", "skin of body", "Abnormal upper limb bone morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "3-D shape anatomical entity in independent continuant", - "Abnormal cellular physiology", - "absent anatomical entity in the skeletal system", + "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", - "Short finger", "skeleton of digitopodium", "Short digit", - "anterior region of body", - "decreased length of manual digit 1" + "reticulocyte" ], "has_phenotype_count": 32, "highlight": null, @@ -5352,7 +5352,6 @@ "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", @@ -5369,19 +5368,21 @@ "HP:0002650", "HP:0000252", "HP:0001882", + "HP:0001510", "HP:0002863", "HP:0002119", - "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", + "HP:0001562", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -5400,7 +5401,6 @@ "HP:0001639", "HP:0001636", "HP:0001631", - "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", @@ -5460,7 +5460,6 @@ "Arteriovenous malformation", "Abnormal morphology of ulna", "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", @@ -5477,19 +5476,21 @@ "Scoliosis", "Microcephaly", "Leukopenia", + "Growth delay", "Myelodysplasia", "Ventriculomegaly", - "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", + "Oligohydramnios", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", + "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -5508,7 +5509,6 @@ "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", - "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", @@ -5559,151 +5559,151 @@ ], "has_phenotype_closure": [ "HP:0001010", + "UPHENO:0084987", "UPHENO:0085070", - "CL:0000458", "HP:0001873", - "UPHENO:0085344", + "UPHENO:0086173", + "CL:0000458", "UPHENO:0085189", - "UPHENO:0084987", "UPHENO:0086049", - "HP:0011875", "CL:0000233", "CL:0000457", - "UPHENO:0086173", + "UPHENO:0085344", + "HP:0011875", "HP:0001939", - "HP:0003220", "GO:0008152", + "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0030218", + "GO:0048871", + "UPHENO:0088162", + "UPHENO:0088170", + "CL:0000329", "HP:0010972", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", + "HP:0020047", + "CL:0000764", + "HP:0005522", "HP:0001877", "HP:0025461", "UPHENO:0084928", - "CL:0000329", - "UPHENO:0088162", - "GO:0048871", - "CL:0000764", - "GO:0048872", - "UPHENO:0088170", - "GO:0048869", + "GO:0030218", "GO:0002376", "GO:0009987", "GO:0042592", - "HP:0005522", - "HP:0020047", + "GO:0048869", "CL:0000232", + "GO:0048872", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0002818", "UBERON:0015001", "UPHENO:0080187", - "HP:0002818", - "UPHENO:0075198", "HP:0012745", + "UPHENO:0075198", "HP:0000010", "UPHENO:0002263", "UPHENO:0053644", "HP:0000028", - "UPHENO:0002806", - "UBERON:0000056", - "UBERON:0006555", "UBERON:0036295", + "UBERON:0006555", + "UPHENO:0002806", "HP:0025633", - "UPHENO:0002442", + "UBERON:0000056", "UPHENO:0086132", - "HP:0000083", + "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", + "HP:0000083", "HP:0000135", "HP:5201015", - "UPHENO:0081423", "UPHENO:0034110", "UPHENO:0063513", + "UPHENO:0081423", "HP:0000268", "UPHENO:0001208", - "UBERON:0013766", "UPHENO:0072402", "UBERON:0001084", - "UBERON:1000021", - "UPHENO:0087928", "UPHENO:0087058", - "HP:0000324", + "UBERON:0013766", + "UPHENO:0087928", + "UBERON:1000021", "UPHENO:0084734", "HP:0001999", + "HP:0000324", + "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0041084", - "UPHENO:0041083", "UPHENO:0076704", - "UBERON:0004768", - "UPHENO:0069249", + "UPHENO:0041083", "UPHENO:0081786", - "HP:0009116", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0003278", - "UBERON:0001684", + "UBERON:0004768", + "HP:0004322", + "HP:0030791", + "HP:0000277", + "UPHENO:0083646", + "UPHENO:0081314", "UPHENO:0084457", "HP:0000286", "HP:0009118", "UPHENO:0088116", - "UBERON:0001710", - "UPHENO:0083646", - "UPHENO:0081314", - "HP:0004322", - "HP:0030791", "CL:0000081", "UBERON:0012360", - "HP:0011873", - "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0069249", + "UBERON:0001708", + "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", "UPHENO:0081141", + "HP:0009116", "HP:0000347", - "UPHENO:0080087", + "UBERON:0001710", "HP:0009122", - "HP:0000277", - "GO:0050954", - "HP:0000365", + "HP:0011873", + "UPHENO:0081788", "UPHENO:0005518", + "HP:0000365", + "GO:0050954", "UPHENO:0052970", - "HP:0000486", "HP:0000549", - "GO:0050953", + "HP:0000486", + "UPHENO:0052164", "UPHENO:0050236", + "GO:0050953", "GO:0034101", "UPHENO:0050622", - "UPHENO:0052164", - "UPHENO:0085881", "HP:0000520", + "UPHENO:0085881", "HP:0000568", "UPHENO:0075219", "HP:0100887", - "HP:0007670", + "UPHENO:0066972", + "UPHENO:0080581", "UPHENO:0079837", "HP:0000359", "HP:0000496", + "UPHENO:0079828", + "HP:0007670", + "UPHENO:0002240", "UPHENO:0080602", "UPHENO:0003044", - "UPHENO:0066972", - "UPHENO:0080581", "HP:0011821", "HP:0012547", "HP:0031704", - "UPHENO:0079828", - "UPHENO:0002240", - "UBERON:0003975", + "UBERON:0003100", "HP:0000008", - "UPHENO:0041033", - "HP:0000130", + "UBERON:0003975", "UPHENO:0003053", - "UBERON:0003100", - "HP:0002719", - "UPHENO:0076766", + "UPHENO:0041033", "HP:0010460", "UPHENO:0005170", "UBERON:0000993", "UBERON:0013515", + "HP:0000130", + "HP:0002719", + "UPHENO:0076766", "UBERON:0012358", "GO:0002262", "UBERON:0003620", @@ -5712,326 +5712,332 @@ "UBERON:0015025", "HP:0001172", "UBERON:0015024", - "UPHENO:0076724", "UPHENO:0021800", + "UPHENO:0076724", "UBERON:5102389", - "NBO:0000403", - "NBO:0000001", - "NBO:0000389", - "GO:0050905", - "NBO:0000338", - "UPHENO:0041151", - "UPHENO:0078622", + "GO:0007610", "HP:0000708", "HP:0001347", - "UPHENO:0049622", - "GO:0007610", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0083263", + "UPHENO:0049622", "UBERON:0004742", "NBO:0000388", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050613", + "HP:0100022", "UPHENO:0080585", + "UPHENO:0050613", + "NBO:0000403", + "NBO:0000001", "GO:0050896", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0050620", + "GO:0060004", "UPHENO:0050079", - "UPHENO:0050606", - "HP:0100022", + "GO:0050905", + "NBO:0000338", "UPHENO:0080393", + "HP:0001537", "UPHENO:0076794", "HP:0001551", - "HP:0001537", + "UBERON:0000474", + "HP:0010866", + "UPHENO:0086122", "UBERON:0003697", - "HP:0004299", - "UPHENO:0002712", - "HP:0003549", "HP:0004298", "UBERON:0007118", - "UPHENO:0086122", - "UBERON:0000474", - "HP:0010866", - "UBERON:0000173", - "HP:0001562", - "HP:0001560", - "UBERON:0000323", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0086128", - "UPHENO:0015329", + "HP:0003549", + "HP:0004299", + "UPHENO:0002712", + "UPHENO:0019890", "UPHENO:0069254", "UBERON:0002085", "UPHENO:0086857", - "UPHENO:0019890", - "GO:0007600", - "HP:0001671", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0084715", + "HP:0001714", "UPHENO:0019886", - "UBERON:0002094", - "UBERON:0003037", - "HP:0031654", + "HP:0001641", "HP:0011563", - "UPHENO:0042775", - "UBERON:0002099", - "UPHENO:0084482", + "UBERON:0010688", + "UPHENO:0086855", "HP:0000218", "UBERON:0002146", - "HP:0001714", - "UPHENO:0086864", + "GO:0007600", + "HP:0001671", + "UBERON:0003037", + "UBERON:0002094", + "HP:0011025", "UPHENO:0086863", "HP:0001707", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0084715", "UPHENO:0084489", "HP:0001636", - "HP:0001641", - "HP:0011025", - "UBERON:0010688", - "UPHENO:0086855", "HP:0011545", - "UPHENO:0024906", - "UPHENO:0077800", - "HP:0001637", - "UBERON:0018260", - "UBERON:0005983", - "UBERON:0000383", + "HP:0002623", + "UPHENO:0086854", + "UPHENO:0042775", + "UBERON:0002099", + "UPHENO:0086864", + "HP:0031654", + "UPHENO:0084482", "UPHENO:0076781", + "UBERON:0000383", + "UBERON:0005983", "HP:0001638", - "UBERON:0003513", - "HP:0001643", - "UBERON:0011695", - "UBERON:0003834", + "UPHENO:0024906", + "UBERON:0018260", + "HP:0001637", + "UPHENO:0077800", + "UBERON:0004716", + "UBERON:0003834", "UBERON:0005985", "UBERON:0018674", - "UPHENO:0087018", + "HP:0001643", "UPHENO:0087309", - "UBERON:0004716", + "UBERON:0011695", + "UBERON:0003513", "UPHENO:0015290", + "UPHENO:0087018", "UBERON:0006876", "UBERON:0002201", "UBERON:0003498", + "UBERON:0010191", + "UPHENO:0076809", "HP:0002692", "UBERON:0003519", - "UPHENO:0076809", - "UBERON:0010191", "HP:0001679", "UPHENO:0082454", + "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0041369", - "UPHENO:0078347", "UPHENO:0078246", + "UPHENO:0078347", "UBERON:0003457", "UBERON:0011300", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0008200", - "UBERON:0002020", - "UBERON:0000956", - "UBERON:0000203", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0084465", "HP:0002007", "HP:0430000", + "UPHENO:0086595", + "HP:0002538", "UPHENO:0076732", "UBERON:0007914", - "UBERON:0004756", - "UBERON:0001869", + "HP:0002683", + "UPHENO:0002700", "UPHENO:0055092", "UPHENO:0005994", + "UBERON:0008200", + "UBERON:0003528", + "UBERON:0000209", "UBERON:0004339", "UBERON:0010364", "UBERON:0011158", - "HP:0002683", - "UBERON:0003528", - "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0004756", + "UBERON:0001869", "HP:0000290", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0086595", - "HP:0002538", - "UPHENO:0084465", - "UBERON:0005401", "UBERON:0016529", - "UPHENO:0002700", + "UBERON:0005401", + "UBERON:0002410", + "UBERON:0000045", + "UPHENO:0087601", "HP:0001763", "UPHENO:0086978", "UPHENO:0087933", - "HP:0410015", - "UBERON:0002005", - "UBERON:0001808", - "UBERON:0003338", "UPHENO:0085068", "HP:0025028", - "UBERON:0000011", - "UPHENO:0087601", "UBERON:0001809", + "UBERON:0003338", "HP:0410014", - "HP:0012331", - "UPHENO:0087602", + "UPHENO:0002941", + "HP:0410015", + "UPHENO:0087121", + "UBERON:0002005", + "UBERON:0001808", + "HP:0002251", + "UPHENO:0020258", + "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", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UBERON:0002240", + "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", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0051077", + "HP:0000001", + "UPHENO:0087950", "UPHENO:0075148", "UBERON:0004249", "GO:0035295", - "UPHENO:0076744", - "HP:0040069", - "UBERON:0000464", - "HP:0011277", - "UPHENO:0063599", - "UPHENO:0076707", - "UPHENO:0087232", "UPHENO:0084729", "UBERON:0016880", - "UBERON:0005409", - "UPHENO:0086797", - "HP:0002242", + "UBERON:0000047", + "GO:0016331", + "HP:0000202", + "UPHENO:0052778", + "UPHENO:0055730", + "GO:0021915", + "UBERON:5101463", + "GO:0007399", + "GO:0060429", + "UPHENO:0077885", + "BFO:0000003", + "UBERON:0000003", "UPHENO:0076780", "UPHENO:0077854", "HP:0004323", - "UBERON:0034713", - "UPHENO:0005642", - "UPHENO:0019888", - "HP:0100627", - "UPHENO:0085876", - "UBERON:0001785", - "UBERON:0005162", - "UPHENO:0088186", - "HP:0045010", - "UBERON:0000010", + "UPHENO:0086797", + "HP:0002242", + "UBERON:0001043", + "HP:0001713", + "UBERON:0035554", + "UPHENO:0041410", "UBERON:0001530", "UPHENO:0076722", "UBERON:0001424", "HP:0002650", - "HP:0009484", + "UBERON:0000010", "UPHENO:0041146", - "UBERON:0000047", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0035133", - "NCBITaxon:6072", - "UPHENO:0076776", - "UPHENO:0088050", - "UPHENO:0087186", - "UPHENO:0081435", - "HP:0001760", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0045010", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0085876", + "UBERON:0001785", + "HP:0009484", + "UBERON:0034713", + "UPHENO:0005642", + "UPHENO:0019888", + "HP:0100627", "UPHENO:0004508", "BFO:0000020", "UBERON:0012354", - "HP:0012243", - "NCBITaxon:33154", - "UBERON:0011892", - "GO:0005623", - "UBERON:0006311", - "UPHENO:0021670", - "UPHENO:0079826", - "UPHENO:0072814", - "HP:0000553", - "HP:0008062", - "UPHENO:0081313", - "HP:0000483", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:5102544", - "HP:0040070", - "UPHENO:0076718", - "HP:0012443", - "UBERON:0001032", - "UBERON:0002616", - "UBERON:0002101", "UBERON:0003466", "HP:0000047", "UBERON:0000483", "BFO:0000141", - "UPHENO:0041664", - "UPHENO:0086817", - "HP:0100867", + "UBERON:0002514", + "HP:0011844", + "UBERON:0001434", + "HP:0002795", "UBERON:0004572", "UBERON:0004708", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0076718", + "HP:0040071", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0009792", + "UBERON:0004375", + "UPHENO:0021561", + "HP:0040070", + "UBERON:0008001", + "UPHENO:0031199", + "UBERON:0002204", + "UBERON:0001333", + "GO:0003008", + "UBERON:0004582", + "UPHENO:0086956", + "UBERON:0003607", + "UBERON:0015003", + "UBERON:0010712", "UBERON:0012475", + "UBERON:0004535", + "UPHENO:0002880", + "UBERON:0003914", "UPHENO:0020868", "HP:0002973", "HP:0000175", "UPHENO:0003098", "UBERON:0011676", "HP:0000025", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "UBERON:0002101", + "HP:0002817", + "UPHENO:0085118", + "UBERON:0010358", + "UBERON:0001062", + "UBERON:0000981", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + "UBERON:0005423", + "HP:0004207", "UPHENO:0076740", - "UBERON:0008001", - "UPHENO:0031199", - "UBERON:0002204", - "UBERON:0001333", - "UBERON:0003607", - "UPHENO:0002880", - "UBERON:0004535", - "UPHENO:0077877", - "HP:0000340", - "UPHENO:0002751", - "UBERON:0004766", - "HP:0007700", - "UPHENO:0088185", - "UBERON:0010712", - "GO:0003008", - "UBERON:0004582", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0040071", - "UPHENO:0021561", - "UBERON:0015003", - "UBERON:0001434", - "HP:0002795", - "UPHENO:0082356", - "UBERON:0001766", - "HP:0040064", "HP:0045005", "GO:0002009", "UPHENO:0087501", - "UPHENO:0080079", - "HP:0007364", - "UBERON:0002514", - "HP:0011844", - "UPHENO:0086956", - "UBERON:0000981", - "UBERON:0011584", - "UBERON:0004923", - "UBERON:0000026", - "UBERON:0005423", - "HP:0004207", - "UPHENO:0076703", - "UBERON:0005337", - "HP:0000582", "UBERON:0008962", "UPHENO:0011498", "UBERON:0000955", "UBERON:0002428", "HP:0000639", "UBERON:0003128", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "HP:0002817", - "UPHENO:0019766", - "HP:0000953", - "UPHENO:0018390", + "HP:0100867", + "HP:0040064", + "UPHENO:0076703", + "UBERON:0005337", + "HP:0000582", + "HP:0025015", + "UBERON:0000970", + "HP:0006495", "PATO:0000001", "UBERON:0003625", "HP:0002597", "UBERON:0002049", "UBERON:0001016", "UBERON:0002107", - "HP:0025015", - "UBERON:0000970", - "HP:0006495", - "UBERON:0007272", - "UBERON:0004537", - "UBERON:0000064", + "HP:0001710", + "UPHENO:0087363", + "UPHENO:0076776", + "UBERON:0035133", + "NCBITaxon:6072", "HP:0032101", "HP:0001511", "UPHENO:0080362", @@ -6039,21 +6045,25 @@ "UPHENO:0076729", "UPHENO:0063527", "UBERON:0004145", + "UBERON:0007272", + "UBERON:0004537", + "UBERON:0000064", + "UPHENO:0019766", + "HP:0000953", + "UPHENO:0018390", "UBERON:0008811", - "HP:0001629", - "UBERON:0004120", - "GO:0007605", - "UBERON:0010363", - "UPHENO:0087548", - "UBERON:0004151", - "UBERON:0035639", - "UPHENO:0003058", "UBERON:0001332", "UBERON:0010719", "UPHENO:0086792", "GO:0007275", "UPHENO:0078288", "UBERON:0000989", + "GO:0007605", + "UBERON:0010363", + "UPHENO:0087548", + "UBERON:0004151", + "UBERON:0035639", + "UPHENO:0003058", "GO:0001841", "UBERON:0002349", "UPHENO:0080662", @@ -6061,29 +6071,42 @@ "GO:0048646", "UPHENO:0046753", "UPHENO:0087907", + "HP:0001629", + "UBERON:0004120", "HP:0100543", "UBERON:0001075", "UPHENO:0050108", + "HP:0012759", + "HP:0002118", "HP:0009602", "HP:0012638", "HP:0001780", "HP:0006101", - "HP:0012759", - "HP:0002118", - "UBERON:0011107", - "GO:0050879", - "UPHENO:0076702", - "UBERON:0000475", + "HP:0006824", + "UPHENO:0002708", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0007779", + "UBERON:0012151", + "HP:0100026", + "GO:0040007", + "HP:0002921", + "HP:0002813", + "UPHENO:0003405", + "UBERON:0010418", + "UBERON:0005358", + "UPHENO:0087433", "UPHENO:0088123", "UPHENO:0079833", "UBERON:0004086", "UBERON:0000153", "UPHENO:0019898", "UPHENO:0075933", - "HP:0006824", - "UPHENO:0002708", - "HP:0002011", - "UPHENO:0081700", + "HP:0000238", + "GO:0050879", + "UPHENO:0076702", + "UBERON:0000475", + "UBERON:0011107", "HP:0000036", "UBERON:0005281", "UPHENO:0085874", @@ -6096,80 +6119,49 @@ "UPHENO:0005597", "UPHENO:0033635", "UBERON:0004771", - "UBERON:0012151", - "HP:0100026", - "GO:0040007", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "UPHENO:0080202", - "UBERON:0000995", - "UBERON:0010428", - "UBERON:0005358", - "UPHENO:0087433", - "UBERON:0007779", "UPHENO:0004523", "HP:0009115", - "UBERON:0010418", - "HP:0000238", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", "UPHENO:0056212", "UBERON:0002081", "UPHENO:0086610", - "UPHENO:0031193", - "HP:0002863", - "UBERON:0001021", - "UPHENO:0031170", "UBERON:0002471", "UPHENO:0087089", "HP:0012848", "UPHENO:0041098", "GO:0032502", "UPHENO:0002832", - "UBERON:0001460", - "HP:0032251", - "HP:0000152", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "UPHENO:0087472", - "UBERON:0001130", - "HP:0010161", - "GO:0007601", - "UBERON:0000465", - "UPHENO:0002598", - "UBERON:0001968", - "HP:0410043", - "UPHENO:0081709", - "UPHENO:0053298", - "UBERON:0000165", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", - "UBERON:0011137", - "HP:0012639", - "BFO:0000002", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "HP:0011218", "UPHENO:0002219", "HP:0000072", "UPHENO:0006910", - "HP:0000202", - "UPHENO:0052778", - "GO:0016331", - "UBERON:0001870", - "UBERON:0004175", - "UBERON:0011216", - "HP:0011024", - "UPHENO:0056237", - "HP:0012758", - "UBERON:0002193", - "UPHENO:0087846", - "BFO:0000004", + "GO:0035239", + "UBERON:0002091", + "UPHENO:0041591", + "UBERON:0003947", + "CL:0000019", + "UBERON:0002082", + "UPHENO:0084815", + "HP:0003026", + "UPHENO:0087665", "UBERON:0011249", "UPHENO:0005998", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0056333", - "UBERON:0003133", + "UBERON:0000062", + "HP:0005344", + "UBERON:0011582", + "HP:0010301", + "UPHENO:0031129", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "UPHENO:0031193", + "HP:0002863", "HP:0025354", "HP:0001646", "UPHENO:0050625", @@ -6177,6 +6169,9 @@ "UBERON:0001137", "HP:0004378", "UPHENO:0001002", + "UBERON:0003135", + "UPHENO:0002332", + "UBERON:0015030", "UBERON:0019264", "HP:0033353", "UPHENO:0020584", @@ -6184,60 +6179,62 @@ "UPHENO:0081566", "UPHENO:0014240", "HP:0000356", - "HP:0000153", - "HP:0100491", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0087531", - "UPHENO:0086198", - "HP:0000539", - "UBERON:0003135", - "UBERON:0011138", - "UBERON:0004571", - "UBERON:0000065", - "GO:0022414", + "UBERON:0001130", + "HP:0010161", + "GO:0007601", + "UBERON:0000465", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0021823", + "UPHENO:0085194", + "UBERON:0000991", + "HP:0000707", + "HP:0000795", + "UBERON:0000990", + "BFO:0000001", + "UPHENO:0002635", + "HP:0030311", + "UPHENO:0002371", + "BFO:0000004", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0056333", + "UBERON:0003133", + "GO:0048729", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "HP:0002414", + "UPHENO:0082129", + "HP:0003330", + "UPHENO:0001005", "UBERON:0003509", "UBERON:0015021", "HP:0001667", "HP:0000027", - "UBERON:0001049", - "HP:0034261", - "UPHENO:0020641", - "UPHENO:0076692", - "HP:0011961", + "UPHENO:0019477", + "UBERON:0011138", + "UBERON:0004571", + "UBERON:0000065", + "GO:0022414", + "HP:0045058", "UPHENO:0086005", "UPHENO:0087510", "GO:0009653", "UBERON:0000964", - "HP:0045058", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0001005", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0050881", - "HP:0008669", - "HP:0000505", - "UBERON:0006058", - "UBERON:0015203", - "UPHENO:0087022", - "UBERON:0001768", - "UBERON:0000991", - "NCBITaxon:131567", - "UBERON:0001981", - "UPHENO:0002406", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0005433", - "UBERON:0000990", - "UPHENO:0001003", - "UPHENO:0002332", - "UBERON:0015030", - "UBERON:0008784", - "UPHENO:0049970", - "HP:0001627", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0011137", + "HP:0012639", + "BFO:0000002", + "HP:0000481", + "UPHENO:0015280", + "HP:0001560", + "UPHENO:0075902", + "UBERON:0001007", + "UPHENO:0072194", + "UPHENO:0079876", "HP:0010468", "UPHENO:0076727", "UBERON:0003608", @@ -6246,152 +6243,82 @@ "UPHENO:0076739", "UPHENO:0005986", "CL:0002242", + "HP:0006501", + "HP:0001642", + "UPHENO:0005116", + "UBERON:0005181", "UBERON:0005291", "UPHENO:0081755", "UBERON:0002103", "UBERON:0003462", "NBO:0000411", "HP:0000163", - "HP:0008055", - "UPHENO:0041462", "UPHENO:0086201", - "HP:0000759", - "UPHENO:0076735", - "UPHENO:0078081", - "UBERON:0002495", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015063", "UPHENO:0080352", "HP:0025031", - "GO:0009888", - "HP:0000925", - "UPHENO:0075997", - "GO:0048598", - "UPHENO:0003055", - "GO:0008150", - "HP:0007565", - "UPHENO:0086700", - "UBERON:0003126", - "UBERON:0001009", - "UPHENO:0002830", - "CL:0000015", - "UBERON:0015228", - "UBERON:0002513", - "HP:0004362", - "GO:0032504", - "HP:0000078", - "UBERON:0000062", - "HP:0003468", - "UPHENO:0020950", - "UPHENO:0081424", - "UBERON:0000075", - "UPHENO:0087894", - "UPHENO:0002901", - "UPHENO:0021823", - "UPHENO:0085194", - "UPHENO:0081598", - "UBERON:0011595", - "UPHENO:0081608", - "UBERON:0001423", - "UBERON:0004176", - "UPHENO:0020748", - "UPHENO:0081584", - "UPHENO:0002595", - "HP:0012041", - "UBERON:0010313", - "HP:0000315", - "UBERON:0001004", - "HP:0000481", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001249", - "UBERON:0000479", - "UBERON:0001007", - "UPHENO:0072194", - "UPHENO:0079876", - "NCBITaxon:33208", - "UBERON:0011374", - "GO:0001843", - "UPHENO:0079839", - "UPHENO:0021672", - "HP:0012130", - "UBERON:0002405", - "NCBITaxon:2759", - "UPHENO:0076800", - "UBERON:0002386", - "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0003947", - "CL:0000019", - "UPHENO:0041591", - "UBERON:0002082", - "UPHENO:0084815", - "HP:0003026", - "UPHENO:0076957", - "UPHENO:0005651", - "UBERON:0005178", - "UBERON:0001436", - "UPHENO:0049701", + "UPHENO:0086621", + "HP:0010461", "UBERON:0000020", - "UPHENO:0080165", - "UPHENO:0087547", - "UBERON:0001638", - "CL:0000413", - "UPHENO:0041395", - "UBERON:0000922", - "UBERON:0007811", - "UPHENO:0084816", - "HP:0012252", - "UBERON:0000057", - "UPHENO:0088338", - "UPHENO:0077872", - "UBERON:0010409", - "UBERON:0002104", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "HP:0006501", - "HP:0001642", - "UBERON:0005181", - "UPHENO:0005116", - "UPHENO:0087665", - "HP:0000707", - "HP:0000795", - "HP:0011389", - "GO:0007276", - "UBERON:0004710", - "HP:0005773", - "UPHENO:0026028", - "UBERON:0001062", - "UPHENO:0085118", - "UBERON:0010358", - "UPHENO:0015303", - "UBERON:0010314", - "HP:0100691", - "GO:0003006", - "GO:0048609", - "UPHENO:0078267", + "HP:0000078", + "HP:0032251", + "UBERON:0001460", + "GO:0050881", + "HP:0008669", + "HP:0000505", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "UBERON:0001021", + "UPHENO:0031170", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0011159", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0086091", + "UPHENO:0002406", + "UPHENO:0082875", + "HP:0011355", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0012874", + "UBERON:0004529", + "UPHENO:0002598", + "UPHENO:0078729", + "UBERON:0002495", + "UBERON:0000463", + "UBERON:0015063", "UBERON:0010707", "UPHENO:0049985", + "UPHENO:0002595", + "UPHENO:0002992", + "HP:0007874", + "HP:0012041", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0087531", + "UPHENO:0086198", + "HP:0000539", + "HP:0000153", + "HP:0100491", + "UBERON:0001049", + "HP:0034261", + "UPHENO:0020641", + "UPHENO:0076692", + "HP:0011961", + "UBERON:0034923", "UBERON:0004054", "HP:0100736", "UPHENO:0087577", "UPHENO:0084834", - "UBERON:0034923", - "UPHENO:0020967", - "UBERON:0000473", - "UBERON:0000477", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0050101", - "UPHENO:0008523", - "UBERON:0010703", - "HP:0002823", + "UBERON:0001004", "UBERON:0002080", "UPHENO:0078452", "UBERON:0011779", @@ -6401,71 +6328,146 @@ "HP:0003022", "UPHENO:0026506", "GO:0032501", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0002075", - "UBERON:0012150", - "UBERON:0001486", - "CL:0000300", - "UPHENO:0020998", - "UBERON:0010538", - "UBERON:0005445", - "UPHENO:0046540", - "HP:0001626", - "GO:0000003", - "UPHENO:0087006", - "HP:0002119", - "GO:0048232", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005156", + "HP:0410043", + "UBERON:0000479", + "HP:0001249", + "UBERON:0001968", "HP:0001751", "HP:0000035", "UBERON:0001709", "UBERON:0016525", "UPHENO:0087973", "UPHENO:0075878", - "UPHENO:0077885", - "BFO:0000003", - "GO:0060429", - "UBERON:0000003", + "UPHENO:0033572", + "HP:0002246", "PR:000050567", - "HP:0000593", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0011159", - "UPHENO:0079872", + "UPHENO:0075684", + "HP:0030680", + "UPHENO:0002448", + "UPHENO:0056237", + "HP:0012758", + "UBERON:0002193", + "UPHENO:0087846", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0001870", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "HP:0000315", + "UBERON:0010313", + "UPHENO:0001003", + "HP:0000759", + "UPHENO:0076735", + "UPHENO:0078081", + "UBERON:0016879", + "UPHENO:0005433", + "UBERON:0005156", + "GO:0048232", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0010763", + "UBERON:0001009", + "UPHENO:0002830", + "CL:0000015", + "UBERON:0015228", + "UPHENO:0081598", + "UPHENO:0081608", + "UBERON:0011595", + "HP:0004362", + "UBERON:0002513", + "GO:0032504", + "UBERON:0001638", + "CL:0000413", + "UPHENO:0080165", + "UPHENO:0087547", + "NBO:0000416", + "HP:0001871", + "BFO:0000040", + "HP:0000152", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0041037", + "UPHENO:0078267", + "GO:0003006", + "GO:0048609", + "UPHENO:0081424", + "UBERON:0000075", + "UPHENO:0087894", + "UPHENO:0002901", + "HP:0011389", + "GO:0007276", + "UBERON:0004710", + "HP:0005773", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0088050", + "UBERON:0008784", + "UPHENO:0049970", + "HP:0001627", + "UBERON:0003126", + "UPHENO:0081584", + "UPHENO:0020748", + "UPHENO:0086700", + "UBERON:0002050", + "UBERON:0010703", + "HP:0002823", + "HP:0003468", + "UPHENO:0020950", + "UPHENO:0020967", + "UBERON:0000473", + "HP:0000234", + "UPHENO:0085873", + "UBERON:0002075", "UBERON:0002544", + "UPHENO:0087585", "UPHENO:0076695", "UBERON:0000060", - "UPHENO:0087585", - "UBERON:0016548", - "UPHENO:0088171", - "GO:0019953", - "UPHENO:0086091", - "HP:0001872", - "UBERON:0002100", - "UPHENO:0076675", - "HP:0012874", - "UBERON:0004529", - "HP:0005344", - "UBERON:0011582", - "UPHENO:0082467", - "UPHENO:0052178", - "HP:0010301", - "UPHENO:0031129", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0002635", - "HP:0030311", + "UBERON:0012150", + "UBERON:0001486", + "CL:0000300", + "UPHENO:0020998", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "HP:0001626", + "GO:0000003", + "UPHENO:0087006", + "HP:0002119", + "UBERON:0001436", + "UPHENO:0049701", + "UPHENO:0005651", + "UBERON:0005178", + "UPHENO:0026028", + "UPHENO:0015303", + "UBERON:0010314", + "HP:0100691", "UPHENO:0075208", "HP:0000811", "HP:0004328", - "UBERON:0016879", - "BFO:0000040", - "NBO:0000416", - "HP:0001871", + "UPHENO:0041395", + "UBERON:0000922", + "UBERON:0007811", + "UPHENO:0084816", + "HP:0012252", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0000057", + "UPHENO:0088338", + "UBERON:0011215", + "GO:0048856", + "HP:0006503", + "UPHENO:0076800", + "UBERON:0002386", + "HP:0002778", + "HP:0000812", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0084763", + "UBERON:0001691", + "UPHENO:0075220", "UBERON:0002105", "UPHENO:0081792", "UBERON:0022303", @@ -6476,8 +6478,14 @@ "UBERON:0011250", "UBERON:0001690", "UBERON:0015410", - "UPHENO:0002678", - "UPHENO:0051003", + "HP:0011842", + "UBERON:0001440", + "UPHENO:0075696", + "UBERON:0006598", + "UBERON:0004908", + "HP:0012243", + "HP:0005607", + "UBERON:0007798", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", @@ -6486,10 +6494,25 @@ "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", @@ -6498,237 +6521,155 @@ "UPHENO:0002378", "UPHENO:0076765", "HP:0002086", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", "HP:0000478", - "UBERON:0000481", - "HP:0000957", + "UPHENO:0041079", + "UBERON:0019231", + "HP:0031703", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", "HP:0011314", "UBERON:0001819", "UBERON:0003657", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "HP:0010461", - "UPHENO:0086621", - "RO:0002577", - "HP:0000951", "HP:0000364", "GO:0009790", "UPHENO:0081574", "UPHENO:0086159", "UPHENO:0076730", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0005607", - "UBERON:0007798", - "HP:0002664", + "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", - "HP:0011793", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "UPHENO:0071334", - "HP:0000032", "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", - "UBERON:0015212", - "UPHENO:0087478", - "UBERON:0001558", - "GO:0048731", - "UBERON:0001043", - "HP:0001713", - "UBERON:0035554", - "UPHENO:0041410", - "UPHENO:0071309", - "UPHENO:0002725", - "HP:0012718", - "CL:0000039", - "UBERON:0013765", - "OBI:0100026", - "UPHENO:0086633", - "UBERON:0004119", - "UPHENO:0080209", + "GO:0072175", + "HP:0002060", + "GO:0007283", + "UPHENO:0082449", "UPHENO:0087802", - "UPHENO:0075684", - "HP:0030680", - "UPHENO:0002448", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", + "UBERON:0010708", + "GO:0050890", + "UBERON:0000073", + "UBERON:0000019", + "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:0012373", - "UBERON:0002091", - "GO:0035239", - "HP:0000813", - "HP:0100542", - "UBERON:0000045", + "HP:0040004", + "UBERON:0003460", + "UPHENO:0002536", + "HP:0012733", + "UPHENO:0087924", + "UBERON:0001981", + "NCBITaxon:131567", "UPHENO:0002910", - "UBERON:0001272", - "GO:0007283", - "UPHENO:0082449", - "HP:0031703", - "UPHENO:0041079", - "UBERON:0019231", - "UBERON:0010708", - "GO:0050890", - "UBERON:0000019", - "UBERON:0000073", - "GO:0050882", - "UBERON:0013522", - "HP:0008438", - "UPHENO:0076798", - "UBERON:0010222", - "UPHENO:0076805", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0035148", - "HP:0000453", - "GO:0048729", - "UBERON:0016491", - "UBERON:0000033", - "UBERON:0006052", - "UPHENO:0033572", - "HP:0002246", - "HP:0001710", - "UPHENO:0087363", - "UBERON:0004375", - "GO:0009792", - "UBERON:5101463", - "GO:0007399", - "GO:0021915", - "HP:0002060", - "GO:0072175", - "UPHENO:0055730", - "UBERON:0005897", - "UBERON:0005174", - "UBERON:0010741", - "UPHENO:0041037", - "HP:0009121", - "HP:0005918", - "UBERON:0034944", - "UBERON:0011164", - "UPHENO:0075655", - "HP:0007874", - "UPHENO:0002992", - "UBERON:0002050", - "UBERON:0003914", - "UBERON:0003920", - "UBERON:0001801", - "UBERON:0010371", - "UPHENO:0015282", - "HP:0000366", - "UPHENO:0087307", - "UPHENO:0050034", - "HP:0003312", - "HP:0000119", - "GO:0043009", - "UBERON:0000061", - "UPHENO:0076803", - "GO:0001838", - "UBERON:0006717", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0002941", - "UPHENO:0019477", - "UPHENO:0076783", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", "UPHENO:0056072", "HP:0001549", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UPHENO:0020809", - "UBERON:0002108", "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:0077889", - "UBERON:0000161", - "UPHENO:0086824", "UPHENO:0074228", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", "UPHENO:0021304", "HP:0010293", - "UBERON:0013702", - "HP:0002023", - "UBERON:0002355", - "UPHENO:0087509", - "HP:0006265", + "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", - "UPHENO:0033559", - "UPHENO:0082794", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "HP:0000174", - "UBERON:0003978", - "HP:0001159", - "UBERON:0005725", - "UPHENO:0086858", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005623", - "UPHENO:0087612", - "UBERON:0004288", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UBERON:0002389", - "HP:0001654", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0010795", "UPHENO:0002839", "UPHENO:0086614", "UBERON:0000915", @@ -6737,163 +6678,194 @@ "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", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", "UPHENO:0015327", "UBERON:0019221", + "UBERON:0002389", + "HP:0001654", + "HP:0030669", + "UBERON:0000117", + "UBERON:0034921", + "HP:0032039", + "UBERON:0010912", + "UPHENO:0086144", "HP:0000492", "UPHENO:0080382", "HP:0200006", "UBERON:0001474", "UPHENO:0063722", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0021791", + "UBERON:0000179", "UPHENO:0003085", "GO:0030154", "UBERON:0004573", "UBERON:0015052", - "HP:0032039", - "HP:0030669", - "UBERON:0010912", - "UPHENO:0086144", - "UPHENO:0021791", - "UBERON:0000179", "UBERON:0000014", "UPHENO:0086680", "UPHENO:0076761", + "UBERON:0000965", + "UBERON:0005389", + "UBERON:0000477", + "HP:0000517", + "UPHENO:0086633", + "UBERON:0004119", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0088132", "HP:0000518", "HP:0001924", "UPHENO:0018424", - "UBERON:0000965", "UPHENO:0087578", - "UBERON:0005389", "HP:0000508", "GO:0048468", "UPHENO:0087214", "GO:0060562", "UPHENO:0041644", "UPHENO:0041667", - "UPHENO:0086699", + "UPHENO:0021517", "UBERON:0010913", + "UPHENO:0086699", "UBERON:0005726", "UPHENO:0086628", - "UPHENO:0021517", "UPHENO:0063621", "HP:0010978", "UPHENO:0086100", - "UPHENO:0003048", - "HP:0005105", - "HP:0011994", - "UPHENO:0002907", - "UPHENO:0084447", - "HP:0100790", - "HP:0010935", - "UBERON:0002268", + "UBERON:0010323", + "UPHENO:0087814", + "UBERON:0007832", "UPHENO:0085330", "UBERON:0003129", "UPHENO:0002642", "UBERON:0010740", "UBERON:0000004", - "UPHENO:0063595", - "HP:0000929", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", + "UPHENO:0003048", + "UBERON:0002268", "HP:0000415", "HP:0100547", "HP:0000144", - "UPHENO:0075852", + "UPHENO:0063595", + "HP:0005105", + "HP:0000929", + "HP:0011994", + "UPHENO:0002907", + "UPHENO:0084447", + "HP:0100790", + "HP:0010935", "HP:0000080", + "UPHENO:0075852", "UBERON:0001008", - "UBERON:0012241", - "UPHENO:0002790", "UBERON:5101466", "HP:0032076", + "UBERON:0012241", + "UPHENO:0002790", + "HP:0000079", + "UBERON:8450002", + "HP:0010936", "UBERON:0001556", "UBERON:0000947", "HP:0001574", - "HP:0010936", - "UBERON:8450002", - "HP:0000079", + "HP:0200005", + "UPHENO:0065599", "HP:0010438", "HP:0000118", "UPHENO:0005995", "UPHENO:0020068", "UBERON:0007830", - "HP:0200005", - "UPHENO:0065599", - "HP:0000252", - "HP:0003272", + "HP:0007364", + "UPHENO:0080079", + "HP:0012130", + "UBERON:0002405", + "NCBITaxon:2759", + "UPHENO:0079839", + "UPHENO:0021672", + "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:0080200", "HP:0100886", "UPHENO:0020888", - "UBERON:0001893", - "UPHENO:0087518", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0004348", - "HP:0002715", - "UPHENO:0086045", - "UBERON:0001449", - "UBERON:0000178", - "HP:0011893", - "HP:0010987", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", + "HP:0000252", + "HP:0003272", "UPHENO:0088321", "UPHENO:0004459", "UPHENO:0003020", "UPHENO:0004536", "UPHENO:0003116", - "UBERON:0002390", + "HP:0004377", + "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", - "CL:0000255", - "CL:0000219", - "UPHENO:0002948", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", + "HP:0010987", + "HP:0011893", + "UBERON:0002390", "UPHENO:0085410", - "UPHENO:0001440", "UPHENO:0000541", "HP:0002031", "HP:0001373", "UBERON:0012476", "UPHENO:0000543", + "UPHENO:0001440", + "HP:0002624", + "UBERON:0002530", "UBERON:0002423", "UBERON:0002365", "UBERON:0002330", - "HP:0002012", - "UBERON:0015204", - "UPHENO:0080126", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000818", - "UPHENO:0084767", - "UBERON:0000916", "UBERON:0002417", "NBO:0000417", "HP:0000924", @@ -6902,26 +6874,38 @@ "UBERON:0002368", "CL:0000408", "UBERON:0005173", - "HP:0002624", - "UBERON:0002530", + "UBERON:0000916", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "HP:0002012", + "UBERON:0004092", "UPHENO:0002844", "UPHENO:0075995", - "UBERON:0004092", "UBERON:0000466", - "UBERON:0008785", - "UBERON:0000015", "UPHENO:0052675", "HP:0000316", + "UBERON:0008785", + "UBERON:0000015", "UPHENO:0042834", "UPHENO:0072195", "HP:0002814", "UBERON:0006800", "UPHENO:0049367", + "HP:0001197", + "UPHENO:0075949", + "UBERON:0000173", + "HP:0001562", + "NBO:0000313", + "HP:0002827", "UPHENO:0052231", "UPHENO:0081594", - "NCBITaxon:1", "UPHENO:0021474", "UPHENO:0087597", + "NCBITaxon:1", "UBERON:0002114", "UPHENO:0076748", "UBERON:0012152", @@ -6929,53 +6913,53 @@ "UBERON:0010696", "NBO:0000444", "UPHENO:0081344", - "UBERON:0000063", - "HP:0008056", - "UBERON:0007273", "HP:0002270", "UBERON:0015022", "UPHENO:0086866", "UBERON:0001445", - "HP:0011297", - "UBERON:0004248", "GO:0043473", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", "UBERON:0012142", "UBERON:0010758", "UBERON:0001890", "UPHENO:0081091", + "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", - "UPHENO:0087369", - "UPHENO:0082444", - "HP:0001639", - "UPHENO:0002896", - "UPHENO:0076806", + "UBERON:0010709", "HP:0040072", "UBERON:0004053", "UBERON:0001441", "UBERON:0015023", - "UPHENO:0081575", "UBERON:0001711", "UBERON:0003221", + "UPHENO:0087369", + "UPHENO:0081575", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", + "UPHENO:0033603", + "UBERON:0001466", "HP:0100760", - "UBERON:0010709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UBERON:0001769", - "UBERON:5002544", - "UBERON:0000154", - "HP:0031653", - "UBERON:0004122", - "HP:0009826", - "UPHENO:0033616", - "HP:0001384", "CL:0000763", "UPHENO:0049586", "UBERON:0010742", @@ -6983,228 +6967,244 @@ "HP:0040068", "UBERON:0002470", "UBERON:0012139", - "HP:0001824", - "UBERON:0004709", - "UPHENO:0033603", - "UBERON:0001466", - "UBERON:0000978", - "UPHENO:0087123", - "HP:0000077", - "UBERON:0002199", "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:0034768", - "UPHENO:0081570", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", - "UBERON:0002553", - "HP:0031816", - "UPHENO:0075843", - "HP:0000172", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0002553", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0004089", "UPHENO:0088088", + "UBERON:0034768", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UPHENO:0081570", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0080221", - "HP:0001034", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "HP:0000309", - "UPHENO:0082682", + "UPHENO:0021670", + "HP:0000553", + "UPHENO:0041664", + "UPHENO:0086817", + "UBERON:0000063", + "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", + "HP:0000593", "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:0008053", - "UPHENO:0022529", - "UPHENO:0054957", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", - "UPHENO:0080601", - "UPHENO:0086172", + "HP:0000309", + "UPHENO:0082682", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "UPHENO:0080601", + "UPHENO:0086172", "UPHENO:0074589", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0049940", - "UPHENO:0084761", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", "UBERON:0002384", "UBERON:0012141", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0084766", - "UPHENO:0080201", "UBERON:0003101", + "UPHENO:0080201", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0085371", + "UPHENO:0076723", "HP:0045060", + "CL:0000151", + "HP:0001510", + "HP:0001167", "HP:0008373", "HP:0005927", - "UPHENO:0085371", - "UPHENO:0076723", + "UPHENO:0084766", "UPHENO:0084653", "UBERON:0005451", "HP:0005922", "UPHENO:0082671", "UPHENO:0078179", + "UPHENO:0082835", "HP:0011849", "HP:0010469", "UBERON:0008202", "UPHENO:0082834", "HP:0004209", "UPHENO:0087203", - "UPHENO:0082835", "UBERON:0002412", "GO:0001503", - "HP:0011446", - "HP:0030084", + "HP:0009179", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", "HP:0000377", "HP:0004097", + "HP:0011446", + "HP:0030084", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UPHENO:0080369", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0076736", - "HP:0009179", "UBERON:5003625", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0081790", - "HP:0200007", - "HP:0009821", + "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:0001001", - "UPHENO:0087892", - "UPHENO:0060026", - "HP:0001367", + "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", - "NBO:0000313", - "HP:0002827", - "UBERON:0000982", - "UBERON:0005913", - "UBERON:0001271", + "UBERON:0003463", + "UPHENO:0060026", + "HP:0001367", "UBERON:0003828", "UPHENO:0075945", - "UBERON:0003463", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0001464", + "UPHENO:0001001", + "UPHENO:0087892", "UBERON:0008114", "UBERON:0007828", "UBERON:0003840", - "UPHENO:0087974", - "UBERON:0004770", - "HP:0002644", - "UBERON:5002389", - "UPHENO:0087558", "HP:0000271", "UBERON:0005893", + "UBERON:5002389", + "UPHENO:0087558", "UBERON:0001712", "UBERON:0001950", "UBERON:0003826", - "UBERON:0016526", - "UPHENO:0010795", - "UBERON:0001805", - "HP:0002251", - "UBERON:0004121", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0020258", - "UPHENO:0087121", - "UBERON:0002410" + "HP:0012331" ], "has_phenotype_closure_label": [ - "decreased biological_process in multicellular organism", "decreased qualitatively pigmentation in independent continuant", - "Hypopigmentation of the skin", - "decreased qualitatively biological_process 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 platelet", "abnormally decreased number of myeloid cell", - "abnormal blood cell", + "abnormally decreased number of platelet", "abnormal platelet", "anucleate cell", "secretory cell", + "abnormal blood cell", "obsolete cell", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "decreased size of the multicellular organism", "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", - "cellular developmental process", - "abnormal erythroid lineage cell morphology", "erythroid lineage cell", - "Sideroblastic anemia", - "Abnormal myeloid cell morphology", + "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", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", "homeostasis of number of cells", - "oxygen accumulating cell", - "Anemia of inadequate production", - "radius bone", + "cellular developmental process", "Abnormal morphology of the radius", - "aplasia or hypoplasia of radius bone", "abnormal radius bone morphology", + "aplasia or hypoplasia of radius bone", + "radius bone", "Neurodevelopmental delay", - "abnormal size of palpebral fissure", "decreased length of palpebral fissure", "Abnormal size of the palpebral fissures", - "Abnormality of immune system physiology", + "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", @@ -7218,178 +7218,167 @@ "abnormally decreased functionality of the gonad", "Cleft palate", "Craniofacial cleft", - "increased height of the anatomical entity", "increased height of anatomical entity in independent continuant", + "increased height of the anatomical entity", "High palate", - "Increased head circumference", "increased size of the head", + "Increased head circumference", + "skin of head", "increased length of the epicanthal fold", - "upper eyelid", - "zone of skin", "Epicanthus", - "skin of head", "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", - "abnormal facial skeleton morphology", - "Hypoplastic facial bones", + "mandible hypoplasia", + "bone element hypoplasia in face", + "decreased size of the mandible", + "bone of lower jaw", + "lower jaw region", "facial skeleton", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "bone of lower jaw", - "mandible hypoplasia", - "abnormal mandible morphology", "Abnormal mandible morphology", - "lower jaw region", "facial bone hypoplasia", - "decreased size of the mandible", - "bone element hypoplasia in face", + "anatomical entity hypoplasia in face", + "abnormal mandible morphology", + "Hypoplastic facial bones", + "abnormal facial skeleton morphology", "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", "abnormal sensory perception of sound", - "Hearing abnormality", "sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", "Abnormal conjugate eye movement", "Strabismus", - "sensory perception of light stimulus", - "abnormal sensory perception of light stimulus", "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", - "Abnormality of globe size", - "Abnormality of eye movement", "cranial nerve related reflex", - "Abnormal vestibulo-ocular reflex", "Abnormal vestibular function", + "Abnormality of eye movement", "abnormality of ear physiology", + "eye movement", "abnormal eye movement", "abnormal physiologic nystagmus", - "eye movement", "abnormal vestibulo-ocular reflex", - "shape uterus", - "abnormal uterus", - "female organism", + "Abnormal vestibulo-ocular reflex", "internal female genitalia", "abnormal internal female genitalia morphology", - "Abnormality of the female genitalia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "female organism", + "abnormal uterus", "abnormal female reproductive system", - "oviduct", "bicornuate anatomical entity", - "uterus", + "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", + "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", - "manual digit 1 digitopodial skeleton", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "manual digit 1", "abnormal female reproductive system morphology", "digit 1 digitopodial skeleton", "skeleton of manual acropodium", "skeleton of manual digitopodium", - "Bicornuate uterus", - "abnormal behavior", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", "body part movement", "neuromuscular process", "voluntary musculoskeletal movement", "kinesthetic behavior", - "increased qualitatively response to stimulus", - "abnormal voluntary musculoskeletal movement", - "Hyperreflexia", - "reflex", + "multicellular organismal movement", "Abnormality of movement", + "abnormal voluntary musculoskeletal movement", "Recurrent urinary tract infections", "involuntary movement behavior", - "multicellular organismal movement", + "Bicornuate uterus", + "abnormal behavior", + "Hyperreflexia", + "increased qualitatively response to stimulus", + "reflex", "abnormal response to external stimulus", "decreased embryo development", "abnormal embryo development", - "Abnormal umbilicus morphology", - "Hernia", - "Hernia of the abdominal wall", + "herniated abdominal wall", "Abnormality of connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", "Abnormality of the abdominal wall", + "Hernia", + "herniated anatomical entity", + "Hernia of the abdominal wall", + "Abnormal umbilicus morphology", "umbilicus", "connective tissue", - "herniated anatomical entity", - "herniated abdominal wall", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "abnormal amniotic fluid", - "Abnormality of prenatal development or birth", - "Renal insufficiency", - "late embryo", - "Oligohydramnios", - "amniotic fluid", + "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", - "abnormal cardiac atrium morphology", - "abnormal interatrial 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", - "interventricular septum", "abnormal hematopoietic cell morphology", "Abnormal connection of the cardiac segments", - "abnormally increased volume of anatomical entity", "Ventricular hypertrophy", "abnormal pulmonary valve morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "cardiac septum", + "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", - "abnormal cardiac septum morphology", - "hypertrophic cardiac ventricle", "hypertrophic heart right ventricle", + "heart layer", "Abnormal myocardium morphology", "layer of muscle tissue", "abnormal myocardium morphology", - "heart layer", "abnormal abdominal wall", "embryonic cardiovascular system", "heart vasculature", "response to stimulus", "ductus arteriosus", - "abnormal coronary vessel morphology", "abnormal number of anatomical enitites of type myeloid cell", "thoracic segment blood vessel", "coronary vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", + "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", "abnormal incomplete closing of the ductus arteriosus", @@ -7398,187 +7387,175 @@ "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", - "aorta", "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", - "shape longitudinal arch of pes", "Pes planus", "flat anatomical entity", - "abnormally fused anatomical entity and pedal digit", "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", - "neurocranium bone", "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", - "neurocranium", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal head bone morphology", - "abnormal shape of frontal cortex", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", "abnormal vault of skull", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", + "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", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", "vertebral column", - "vertebra", + "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 neural tube 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", - "tube formation", - "neural tube", - "presumptive structure", "Abnormality of the inner ear", "abnormal vertebral column morphology", - "face", - "aplasia or hypoplasia of manual digit", - "Abnormality of the vasculature", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "Vertebral arch anomaly", + "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 systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal common carotid artery plus branches morphology", - "jaw region", - "artery", - "abnormal anatomical entity 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", - "Abnormality of the orbital region", - "roof of mouth", "paralysed cranial nerve", - "Abnormal cranial nerve physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal neocortex morphology", - "decreased biological_process", - "Eukaryota", - "Eumetazoa", - "Aplasia/Hypoplasia affecting the uvea", - "anterior uvea", - "vestibulo-auditory system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "head bone", - "shape digit", - "multi-tissue structure", - "bodily fluid", - "abnormal peripheral nervous system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "appendage girdle complex", - "subdivision of head", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "Abnormal morphology of ulna", - "Aplasia/Hypoplasia of the iris", - "mouth", - "spinal cord", - "appendicular skeleton", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "abnormally formed anatomical entity", - "absent sperm", + "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", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "Abnormality of limbs", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "appendage girdle complex", + "subdivision of head", "ulna endochondral element", "abnormal shape of cornea", "abnormal forebrain morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "neural tube formation", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "Anal atresia", - "postcranial axial skeletal system", - "Clubbing of toes", - "Abnormal uvea 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", - "zeugopod", - "skeletal element", + "Abnormal forebrain morphology", "paired limb/fin", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "bone element", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal digestive system morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", "septum", "Abnormality of limb bone morphology", - "Abnormal forearm bone morphology", - "root", - "Abnormal forebrain morphology", "developing anatomical structure", "skeleton of limb", "forelimb zeugopod skeleton", @@ -7586,51 +7563,75 @@ "subdivision of oviduct", "limb bone", "pectoral appendage skeleton", - "Abnormal blood vessel morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", + "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 vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", "abnormal cardiovascular system", "Abnormal reproductive system morphology", "abnormal blood vessel morphology", "abnormal parasympathetic nervous system morphology", "abnormal embryo morphology", "Abnormal venous morphology", - "Aplasia/Hypoplasia affecting the eye", "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", - "Abnormality of the forehead", - "intromittent organ", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", "organism", "secondary palate", - "penis", - "Orofacial cleft", - "digestive system element", "autopod bone", "Neurodevelopmental abnormality", "manual digit phalanx endochondral element", @@ -7640,30 +7641,11 @@ "abnormal cardiovascular system morphology", "Abnormality of mental function", "nervous system process", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "abnormality of internal male genitalia physiology", - "decreased length of forelimb zeugopod bone", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", + "skeleton of digitopodium", "Abnormal preputium morphology", - "Neural tube defect", - "organ system subdivision", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", "forelimb bone", "Abnormal uvula morphology", - "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", "ventricular system of central nervous system", "Abnormal shape of the frontal region", "central nervous system", @@ -7674,6 +7656,14 @@ "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", @@ -7681,53 +7671,56 @@ "abnormal heart layer morphology", "Abnormal frontal bone morphology", "Abnormality of lower limb joint", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", + "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", - "cerebrospinal fluid", "abnormal nervous system", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "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", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal voluntary movement behavior", - "tissue", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", + "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", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "embryo", - "Absent testis", - "exocrine system", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", "phenotype by ontology source", "Abnormality of the male genitalia", "Abnormality of blood and blood-forming tissues", @@ -7737,150 +7730,57 @@ "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", - "anatomical system", - "upper digestive tract", - "dorsum", - "cranial nerve", - "testis", - "reproductive structure", - "abnormal ulna morphology", - "gonad", - "Decreased anatomical entity mass density", - "ganglion", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "iris", - "absent gamete", - "naris", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "internal male genitalia", - "digestive system", - "curved anatomical entity", - "decreased length of long bone", - "material entity", - "increased reflex", - "long bone", + "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", - "system process", - "male gamete", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "entire sense organ system", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "organ", - "pedal digit plus metapodial segment", - "occurrent", - "abnormal male reproductive organ morphology", - "pedal digit phalanx endochondral element", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "sensory system", - "absent sperm in the independent continuant", - "pelvic region element", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "reproduction", - "vessel", - "lateral structure", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "All", - "Abnormal bone structure", - "male reproductive organ", - "abnormal blood cell morphology", - "abnormal cell", - "disconnected anatomical group", - "upper limb segment", - "biological_process", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "delayed biological_process", - "systemic artery", - "organism substance", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal leukocyte morphology", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "neuron projection bundle", - "Abnormal spinal cord morphology", - "external male genitalia", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "independent continuant", - "anatomical line between pupils", - "abnormal number of anatomical enitites of type anatomical entity", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "hepatobiliary system", - "subdivision of skeletal system", - "Abnormal external genitalia", "pulmonary valve", "cellular organisms", "vertebral element", @@ -7888,54 +7788,144 @@ "bone of free limb or fin", "abnormal pedal digit morphology", "abnormal ear", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "abnormal gamete generation", - "Abnormality of the curvature of the cornea", + "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", - "limb", - "respiratory system", - "hip joint", + "abnormal peripheral nervous system morphology", + "bodily fluid", + "multi-tissue structure", "abnormal ear morphology", "abnormal number of anatomical enitites of type sperm", - "Abnormality of the cardiovascular system", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "dorsal region element", - "abnormal opening of the anatomical entity", + "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", - "multicellular anatomical structure", - "hematopoietic system", "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", - "internal genitalia", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal tracheobronchial tree morphology", "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Abnormal ear morphology", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "abnormal internal genitalia", - "ocular surface region", + "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", @@ -7946,80 +7936,24 @@ "anus atresia", "abnormal skull morphology", "Short long bone", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "neural tube development", - "external genitalia", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal limb bone morphology", - "tunica fibrosa of eyeball", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "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", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormal esophagus morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "process", + "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", - "Abnormality of the nose", - "developmental process involved in reproduction", "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", "aplasia or hypoplasia of anatomical entity", "limb long bone", "compound organ", "eye", - "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 anterior uvea morphology", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "cerebral cortex", - "tracheobronchial tree", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the peripheral nervous system", - "trunk region element", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", + "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", @@ -8027,53 +7961,129 @@ "Short palpebral fissure", "Abnormal skeletal morphology", "increased pigmentation", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal bone element mass density", - "main body axis", - "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", - "external soft tissue zone", - "digit plus metapodial segment", - "head", + "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", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal heart morphology", - "appendage girdle region", - "anatomical structure morphogenesis", - "abnormal limb bone", - "abnormal spinal cord morphology", - "Hypogonadism", - "arm bone", - "urethral opening", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "sense organ", + "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", - "abnormality of camera-type eye physiology", - "organism subdivision", "subdivision of digestive tract", "Abnormal pinna morphology", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "respiratory airway", - "abnormal secondary palate 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", @@ -8085,28 +8095,45 @@ "anterior chamber of eyeball", "abnormal development of anatomical entity", "increased biological_process", - "abnormal postcranial axial skeleton morphology", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "embryo development", - "brain gray matter", - "Abnormal tracheobronchial morphology", + "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", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", + "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", @@ -8114,10 +8141,6 @@ "Short stature", "Abnormality of the vertebral column", "abnormal digestive system", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal morphology of the great vessels", - "pectoral complex", "flat longitudinal arch of pes", "abnormal bone of pectoral complex morphology", "orifice", @@ -8125,6 +8148,27 @@ "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", @@ -8140,192 +8184,121 @@ "Aplasia/Hypoplasia of the testes", "left cardiac chamber", "Slanting of the palpebral fissure", - "Hip dislocation", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal long bone morphology", - "digitopodium bone", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "lower respiratory tract", - "visual system", - "abnormal camera-type eye morphology", + "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", "orbital region", - "multicellular organism development", - "Ventriculomegaly", - "Abnormal anterior eye segment morphology", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal bony vertebral centrum morphology", "abnormal alimentary part of gastrointestinal system", "Abnormal carotid artery morphology", "Astigmatism", - "circulatory organ", - "uvea", - "shape cornea", - "paired limb/fin segment", "pelvic girdle region", - "simple eye", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", "abnormal posterior nasal aperture morphology", "curvature anatomical entity", + "abnormal camera-type eye morphology", "abnormal orbital region", - "morphogenesis of an epithelium", - "epithelial tube morphogenesis", - "abnormal palpebral fissure", - "abnormal tube formation", - "circulatory system", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "multicellular organismal-level homeostasis", - "anterior segment of eyeball", - "chordate embryonic development", - "skeleton of digitopodium", - "embryonic epithelial tube formation", - "cranium", - "dermatocranium", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "neural tube closure", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "manus", - "abnormal nose morphology", - "embryonic tissue", - "ileum", - "Ventricular septal defect", - "small intestine", - "Abnormal jaw morphology", - "irregular bone", - "Meckel diverticulum", - "trunk bone", - "Azoospermia", - "Abnormal small intestine morphology", - "skeleton of lower jaw", - "abnormal small intestine", + "abnormal bony vertebral centrum morphology", + "simple eye", "anus", "Abnormal skull morphology", - "Abnormal anus morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "abnormal anus", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", "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", - "Weight loss", - "Decreased body weight", - "autopodial extension", "growth", "cardiac valve", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", + "Decreased body weight", + "autopodial extension", "abnormal forelimb zeugopod bone", "valve", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", "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", "gamete", "upper jaw region", - "Abnormal eyelid morphology", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "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", - "palpebral fissure", "Abnormal ocular adnexa morphology", - "Upslanted palpebral fissure", - "manual digit plus metapodial segment", - "Abnormal bone ossification", + "Abnormal eyelid morphology", "female reproductive organ", "ocular adnexa", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", - "opaque anatomical entity", + "palpebral fissure", + "abnormal lens of camera-type eye morphology", + "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "Cataract", - "abnormal lens of camera-type eye morphology", - "Atrial septal defect", - "drooping anatomical entity", + "opaque anatomical entity", "clavate digit", "shape eyelid", + "Atrial septal defect", + "drooping anatomical entity", "Ptosis", "Abnormal cornea morphology", "gland", - "abnormal artery morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal penis morphology", - "abnormal cranium morphology", "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", + "cranial skeletal system", + "nose", + "endocrine gland", + "sperm", + "internal naris", "Neoplasm by anatomical site", "olfactory system", "Abnormality of the nervous system", @@ -8334,81 +8307,66 @@ "bony vertebral centrum", "abnormal olfactory system morphology", "abnormal nose", - "sperm", - "internal naris", - "olfactory organ", - "cranial skeletal system", - "nose", - "endocrine gland", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", "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", - "excretory system", - "abnormal urethra", - "renal system", "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", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", - "Scoliosis", "Abnormal curvature of the vertebral column", - "tube closure", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", + "Scoliosis", + "root", "regional part of nervous system", "Abnormal midface morphology", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Abnormal vascular morphology", - "Abnormality of skull size", + "Decreased head circumference", + "Metazoa", + "abnormal parasympathetic ganglion morphology", "Abnormal pulmonary valve morphology", - "abnormal anterior chamber of eyeball morphology", "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal anterior chamber of eyeball morphology", "telencephalon", - "Decreased head circumference", + "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", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", "abnormality of renal system physiology", "abnormal esophagus morphology", "abnormal size of anatomical entity", - "Leukopenia", - "abnormal hematopoietic system", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal number of anatomical enitites of type hematopoietic cell", "digit 1 plus metapodial segment", "synovial joint", "Abnormality of the anus", @@ -8417,26 +8375,32 @@ "abnormally decreased number of cell", "Functional abnormality of the inner ear", "pedal digit", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", + "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", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "Myelodysplasia", + "haemolymphatic fluid", + "abnormal hematopoietic system", + "delayed growth", "abnormal immune system morphology", "Hematological neoplasm", "Reduced bone mineral density", - "abnormal size of brain ventricle", - "nerve", - "Frontal bossing", - "zone of organ", - "increased size of the brain ventricle", + "Myelodysplasia", "Abnormality of vision", "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", @@ -8445,43 +8409,63 @@ "pedal digit bone", "cardiac atrium", "Abnormality of the integument", - "delayed growth", + "abnormal size of brain ventricle", + "zone of organ", + "increased size of the brain ventricle", + "liver", + "abnormal endocrine system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", "Abnormality of the endocrine system", "forelimb", "skeleton of pelvic complex", - "abnormal endocrine system", "abdominal segment of trunk", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "glandular system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", - "Decreased fertility", + "Abnormality of the liver", "behavior", "abdomen element", - "Abnormality of the liver", - "liver", + "glandular system", "abnormal hypothalamus-pituitary axis", - "increased anatomical entity length in independent continuant", - "Hypertelorism", + "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", + "Hypertelorism", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", "immaterial anatomical entity", "abnormal anatomical entity, curved", "anatomical line", - "non-material anatomical boundary", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", + "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", - "duodenum", - "Abnormality of the lower limb", + "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", @@ -8490,73 +8474,104 @@ "skeleton of pes", "abnormal incomplete closing of the interventricular septum", "Abnormal toe morphology", - "pes", - "abnormal phalanx morphology", - "Choanal atresia", - "acropodial skeleton", - "digitopodium region", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", "Duodenal stenosis", "Abnormal foot morphology", "Hypermelanotic macule", - "digit", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "abnormal digit morphology", - "shape forehead", - "posterior region of body", - "individual digit of digitopodial skeleton", - "phalanx endochondral element", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal digit", "leg", "abnormally decreased number of anatomical entity in the blood", "phalanx of pes", + "abnormal long bone morphology", + "digitopodium bone", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", "phalanx", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal autopod region morphology", - "nervous system cell part layer", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", "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", + "digitopodium region", "genitourinary system", "Limb undergrowth", - "Abnormality of the kidney", "abnormal kidney morphology", "skull", "femur", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormality of the kidney", "Decreased fertility in males", - "primary circulatory organ", - "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", + "prominent anatomical entity", + "abnormal roof of mouth morphology", "anatomical projection", + "abnormal midface morphology", + "mouth", + "Aplasia/Hypoplasia of the iris", + "Abnormal oral cavity morphology", "Abnormal aortic valve morphology", "midface", "abnormal soft palate morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", "Abnormal soft palate morphology", "shape palpebral fissure", "abnormal palatine uvula morphology", "anatomical cavity", - "abnormal midface morphology", - "palatine uvula", - "Abnormal erythrocyte morphology", - "soft palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal asymmetry of face", - "abnormal integument", + "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", + "Abnormal hip joint morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "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", "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", @@ -8567,78 +8582,66 @@ "abnormal cell morphology", "anatomical collection", "Macule", + "abnormal cornea, curved", + "pigmentation", "eyeball of camera-type eye", "abnormal upper urinary tract", "abnormal skin of body", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", "Abnormality of skin morphology", - "integument", "abnormality of kidney physiology", "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "increased biological_process in skin of body", - "abnormal cornea, curved", - "pigmentation", - "increased pigmentation in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal manus", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the hand", "skeleton of manus", + "Aplasia/Hypoplasia of fingers", "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "Aplasia/Hypoplasia of fingers", - "abnormal manus", "decreased pigmentation in skin of body", "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/hypoplasia involving the skeleton", - "abnormal manus morphology", "vascular system", "abnormal anterior segment of eyeball morphology", "aplasia or hypoplasia of skeleton", + "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", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", "appendage", "abnormally fused digit and digit", "Clinodactyly of the 5th finger", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "biogenic amine secreting cell", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "biogenic amine secreting cell", "ossification", "Abnormality of bone mineral density", - "manual digit 5", "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", "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", - "deviation of digit towards the middle", - "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 manual digit", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "manual digit 5", "hypertrophic multicellular anatomical structure", "dermal skeletal element", "decreased length of anatomical entity in independent continuant", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "forelimb zeugopod bone hypoplasia", + "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", @@ -8646,2714 +8649,2711 @@ "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", "increased height of the secondary palate", "Tetralogy of Fallot", "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "articulation", - "skeletal joint dislocation", - "articular system", - "peripheral nervous system", - "abnormal hip joint morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", + "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", - "skin of body", + "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", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "abnormal hindlimb stylopod morphology", - "Abnormality of femur 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", - "stylopod", - "upper leg bone", + "Abnormality of femur morphology", "Abnormality of enteric ganglion morphology", - "Unusual infection", - "abnormal enteric ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "enteric ganglion", + "abnormal intestine morphology", "abnormal face morphology", "axial skeletal system", - "abnormal intestine morphology", "autonomic ganglion", - "parasympathetic nervous system", - "Abnormality of the autonomic nervous system", - "autonomic nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", + "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 vascular system morphology", - "cortex of cerebral lobe", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "abnormal roof of mouth morphology", - "prominent anatomical entity" + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology" ], "has_phenotype_count": 106, "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", "OMIM:613951"], "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:0000028", + "HP:0000957", + "HP:0000252", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0003774", - "HP:0025023" + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0002860", + "HP:0001045" ], "has_phenotype_label": [ - "Chromosome breakage", "Hypoplasia of the radius", "Absent thumb", - "Abnormal heart morphology", - "Small thenar eminence", - "Anal atresia", - "Hydronephrosis", - "Cryptorchidism", + "Cafe-au-lait spot", + "Microcephaly", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Stage 5 chronic kidney disease", - "Rectal atresia" + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Squamous cell carcinoma", + "Vitiligo" ], "has_phenotype_closure": [ - "NCBITaxon:33154", - "HP:0002242", - "UPHENO:0002714", - "UPHENO:0087006", - 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"NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0000915", - "UBERON:0005181", - "UBERON:0015410", - "UPHENO:0076803", - "UPHENO:0002655", - "UBERON:0004489", - "UBERON:0002471", - "UPHENO:0081755", - "UPHENO:0002816", - "UBERON:0011143", - "UPHENO:0053580", - "GO:0006325", - "UPHENO:0063639", - "HP:0011844", - "HP:0001227", - "UBERON:0034925", - "HP:0001421", - "UPHENO:0002832", - "GO:0032502", - "UPHENO:0063632", - "HP:0003011", - "HP:0001446", - "UBERON:0000161", - "UPHENO:0084841", - "UBERON:0000383", - "UBERON:0006048", - "UBERON:0007271", - "HP:0009127", - "UBERON:0007269", - "UBERON:0004480", - "UBERON:0004481", - "HP:0001245", - "HP:0004378", - "UPHENO:0046505", - "UPHENO:0086644", - "UPHENO:0079876", - "UBERON:0001007", - "HP:0011793", - "HP:0025033", - "HP:0011805", - "UPHENO:0086682", - "UBERON:0000025", - "UBERON:0034929", - "HP:0002250", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "UPHENO:0084448", - "UBERON:0001245", - "GO:0006807", - "UPHENO:0002839", - "HP:0025031", - "UBERON:0036295", - "UBERON:0004907", + "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", - "HP:0034915", - "UPHENO:0063599", - "GO:0031326", - "UPHENO:0065599", - "HP:0034058", - "UBERON:0000064", - "UBERON:0001008", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "HP:0010946", - "UPHENO:0080382", - "GO:0048609", - "GO:0003006", - "UBERON:0001224", - "HP:0001197", - "UBERON:0000922", - "HP:0010945", - "UPHENO:0075949", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0084132", - "UPHENO:0076718", - "UPHENO:0005651", - "HP:0003241", - "HP:0010935", - "UPHENO:0049940", - "HP:0000119", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0000323", - "UPHENO:0087427", - "HP:0034242", - "UBERON:8450002", - "UBERON:0000916", - "UBERON:0002417", - "UBERON:0005173", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0034923", - "UPHENO:0084834", - "UBERON:0004054", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0076779", + "UPHENO:0088170", + "UPHENO:0081792", + "UBERON:0010740", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0001460", + "GO:0040007", + "UBERON:0002091", + "UPHENO:0081314", + "UPHENO:0020584", + "GO:0003008", "UBERON:0010538", - "UPHENO:0001478", - "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "UBERON:0000079", - "UPHENO:0086201", - "UPHENO:0085873", - "CL:0000586", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0010944", - "HP:0001510", - "UPHENO:0086023", - "UPHENO:0080369", - "CL:0000408", - "GO:0007283", - "UBERON:0000481", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "CL:0000015", - "UPHENO:0002597", - "GO:0007276", + "HP:0009824", + "UBERON:0034925", "UBERON:0000991", - "HP:0011024", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", + "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", - "HP:0000032", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "UBERON:0000473", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "UPHENO:0046411", + "UBERON:0004111", + "UBERON:0011137", + "UPHENO:0087472", + "UPHENO:0074575", "UPHENO:0046707", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009623", - "UBERON:0012361", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009484", - "UPHENO:0084829", - "UPHENO:0080351", + "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:0003466", - "UPHENO:0069254", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", - "HP:0001507", - "UPHENO:0049874", + "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", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "HP:0002589", - "UPHENO:0063629", - "HP:0011100", - "HP:0012732", - "NCBITaxon:1", - "UPHENO:0084124", - "UPHENO:0087346", - "HP:0009777", - "UBERON:0004921", - "UBERON:0000160", - "HP:0002034", - "UPHENO:0002725", - "HP:0012718", - "HP:0025023" - ], - "has_phenotype_closure_label": [ - "rectum atresia", - "abnormal rectum", - "Abnormal intestine morphology", - "lower digestive tract", - "intestine", - "rectum", - "internal anal region", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "subdivision of tube", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Metazoa", - "Rectal atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Chronic kidney disease", - "Abnormal renal physiology", - "Renal insufficiency", - "Abnormality of the urinary system physiology", - "Intestinal atresia", - "non-functional kidney", - "growth", - "decreased height of the anatomical entity", - "digestive system element", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "Renal cyst", - "deviation of manual digit", - "intestine atresia", - "Proximal placement of thumb", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "Short finger", - "developmental process", - "reproductive process", - "abnormally localised testis", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "developmental process involved in reproduction", - "abnormally localised anatomical entity", - "abnormal reproductive system", - "absent gamete", - "sperm", - "male organism", - "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "testis", - "internal male genitalia", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type sperm", + "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", - "Abnormality of the male genitalia", + "male gamete generation", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", "male germ cell", - "abnormality of multicellular organism height", "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "organism substance", + "Abnormal testis morphology", "semen", - "abnormal male reproductive system", - "male reproductive system", "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "decreased developmental process", - "reproductive organ", - "spermatogenesis", - "gamete generation", + "Abnormality of reproductive system physiology", "absent anatomical entity in the semen", - "abnormal gamete", - "abnormal number of anatomical enitites of type cell", + "Abnormal external genitalia", + "reproductive process", + "abnormally localised anatomical entity in independent continuant", + "abnormal internal genitalia", "external genitalia", "internal genitalia", "gonad", - "Abnormality of the genital system", - "abnormal internal genitalia", + "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", - "Abnormality of reproductive system physiology", "gamete", - "obsolete multicellular organism reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "changed biological_process rate", - "absent germ cell", - "abnormal renal system morphology", - "Abnormality of prenatal development or birth", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "kidney", + "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", - "abnormal genitourinary system", - "increased size of the renal pelvis", - "late embryo", - "abnormal renal system", - "Abnormal renal morphology", - "embryo", - "renal pelvis", - "Abnormality of the kidney", - "renal pelvis/ureter", - "disconnected anatomical group", - "abdominal segment of trunk", - "abdomen", - "decreased length of digit", - "anatomical cluster", - "Abnormality of the upper urinary tract", - "renal system", - "Abnormal fetal genitourinary system morphology", - "organ part", - "increased size of the anatomical entity in independent continuant", - "Abnormal fetal morphology", - "Abnormal renal pelvis morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "abnormal renal pelvis", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "abnormal closing of the anatomical entity", - "abnormal digestive system", - "deviation of manual digit 1", - "digestive tract", + "developmental process involved in reproduction", "multicellular organismal reproductive process", - "anatomical conduit", - "anus", - "abnormal digestive system morphology", - "Neoplasm by anatomical site", - "digestive system", - "abnormality of male reproductive system physiology", + "abnormality of reproductive system physiology", + "abnormal sensory perception", + "Hearing abnormality", + "decreased sensory perception of sound", + "ear", "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "musculature of upper limb", - "haploid cell", - "appendage musculature", - "musculature of body", - "Abnormality of the musculature of the upper limbs", - "cavitated compound organ", - "abnormal musculature of upper limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature of the hand", - "germ line cell", - "thenar eminence hypoplasia", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "abnormal musculature of limb", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "musculature of manus", - "abnormal musculature", - "abnormal heart morphology", - "Cryptorchidism", - "heart plus pericardium", - "Abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Fetal ultrasound soft marker", - "excretory system", - "circulatory system", - "body proper", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "limb endochondral element", - "subdivision of digestive tract", - "delayed biological_process", - "Short forearm", - "increased size of the anatomical entity", - "abnormal limb bone", - "limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal appendicular skeleton morphology", - "endochondral element", - "pectoral appendage", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "abnormal long bone morphology", - "forelimb zeugopod bone hypoplasia", - "anatomical entity hypoplasia in independent continuant", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "Abnormality of the musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "abnormal testis morphology", - "forelimb zeugopod", - "male reproductive organ", - "cellular component organization or biogenesis", - "multicellular anatomical structure", - "forelimb endochondral element", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "musculature of limb", - "negative regulation of biosynthetic process", - "decreased length of forelimb zeugopod bone", - "orifice", - "DNA metabolic process", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "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", - "programmed DNA elimination", - "digit", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "metabolic process", - "multi-limb segment region", - "abnormal cellular process", - "root", - "appendage", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "Abnormal internal genitalia", - "regulation of cellular 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", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "abnormal growth", - "independent continuant", - "abnormal intestine morphology", - "aplastic manual digit 1", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "anal region", - "paired limb/fin skeleton", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "Abnormal anus morphology", - "protein-DNA complex organization", - "arm", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal manus", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", + "abnormality of multicellular organism height", + "Short stature", + "abnormal size of multicellular organism", + "abnormal metabolic process", + "abnormal chromatin organization", "negative regulation of gene expression", - "Abnormality of the digestive system", - "regulation of macromolecule metabolic process", - "acropodium region", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "Deviation of finger", - "negative regulation of metabolic process", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abdominal segment element", - "abnormal thenar eminence", + "regulation of cellular biosynthetic process", "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "biological_process", - "Abnormal forearm bone morphology", - "Abnormality of the skeletal system", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "continuant", - "Abnormality of limbs", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "abnormal spatial pattern of anatomical entity", + "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", - "material entity", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "decreased qualitatively biological_process", "abnormal cellular component organization", - "upper limb segment", - "appendicular skeleton", - "subdivision of organism along main body axis", - "abnormal biological_process", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "Abnormal long bone morphology", - "skeleton of limb", - "muscle structure", - "material anatomical entity", - "external male genitalia", + "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", - "pectoral appendage musculature", - "abnormal metabolic process", - "abnormal forelimb zeugopod morphology", - "cellular metabolic process", - "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", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal chromatin organization", + "abnormal DNA metabolic process", "Chromosome breakage", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "bone element", - "All", + "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", - "abnormal programmed DNA elimination by chromosome breakage", + "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", - "decreased qualitatively reproductive process", - "genitourinary system", - "forelimb skeleton", - "Abnormal cellular physiology", - "organic substance metabolic process", - "obsolete nitrogen compound metabolic process", - "abnormal upper urinary tract", + "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", - "delayed growth", - "abnormal cardiovascular system", - "skeletal system", - "phenotype", - "nucleobase-containing compound metabolic process", "absent digit", - "decreased length of long bone", + "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 element", - "zeugopod", + "skeletal system", + "motile cell", + "regulation of metabolic process", + "manual digit 1", "autopodial extension", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "process", - "nucleic acid metabolic process", - "aplasia or hypoplasia of skeleton", - "forelimb", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "abnormal rectum morphology", - "abnormal limb long bone morphology", + "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", - "abnormal limb bone morphology", + "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", - "Abnormality of digestive system morphology", - "thenar eminence", - "manus", - "abnormal limb", - "compound organ", - "zeugopodial skeleton", - "obsolete cell", - "limb long bone", - "Abnormality of the urinary system", + "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", - "abnormal radius bone morphology", + "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", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of the anus", - "organ system subdivision", + "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", - "Abnormal morphology of the radius", - "manual digit", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "palmar/plantar part of autopod", - "external soft tissue zone", - "Abnormality of limb bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "occurrent", - "organ", - "heart", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "radius bone", - "deviation of anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "Aplasia/hypoplasia involving forearm bones", - "forelimb long bone", + "leukocyte", + "decreased qualitatively biological_process", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "abnormal craniocervical region morphology", + "continuant", "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", + "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", - "cell", - "Abnormality of the upper limb", + "anatomical structure", "abnormal anatomical entity morphology in the skeleton of pectoral complex", "abnormal forelimb zeugopod bone", - "Upper limb undergrowth", - "limb skeleton subdivision", - "trunk region element", - "pectoral complex", + "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", - "paired limb/fin segment", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal skeletal system", - "forelimb zeugopod bone", - "subdivision of skeleton", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "anatomical system", - "digit 1", - "aplasia or hypoplasia of manual digit", - "organism", + "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", - "skeleton of manus", - "cardiovascular system", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "agenesis of anatomical entity", - "Abnormality of the hand", - "abnormal autopod region morphology", + "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", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "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", - "cellular process", - "Abnormal digit morphology", - "absent anatomical entity", - "Short thumb", - "abnormal manual digit 1 morphology", - "digit 1 plus metapodial segment", - "abnormal digit morphology", - "digit plus metapodial segment", - "Abnormal finger morphology", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Finger aplasia", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", + "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 manus morphology", - "primary circulatory organ", + "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", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", + "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", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "decreased spermatogenesis", - "abnormal kidney morphology", - "main body axis" + "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": 15, + "has_phenotype_count": 20, "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", "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" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002984", - "HP:0009777", - "HP:0000957", - "HP:0000252", - "HP:0002860", - "HP:0001510", - "HP:0000581", - "HP:0001876", - "HP:0000347", + "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:0040012", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "HP:0000028", "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", + "HP:0009623", + "HP:0000107", + "HP:0003241", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045" + "HP:0003774", + "HP:0025023" ], "has_phenotype_label": [ + "Chromosome breakage", "Hypoplasia of the radius", "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Squamous cell carcinoma", - "Growth delay", - "Blepharophimosis", - "Pancytopenia", - "Micrognathia", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo" + "Stage 5 chronic kidney disease", + "Rectal atresia" ], "has_phenotype_closure": [ - "HP:0000086", - "GO:0022414", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0049367", - "UPHENO:0002598", - "UBERON:0004054", - "UBERON:0000473", - "UBERON:0001968", - "HP:0000078", - "UPHENO:0078452", - 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+ "UPHENO:0002642", + "GO:0009890", + "HP:0011842", + "UPHENO:0075696", + "HP:0033127", + "UBERON:0001630", + "HP:0011425", + "GO:0006139", + "HP:0002664", + "UPHENO:0076723", + "NCBITaxon:131567", + "UPHENO:0049748", + "GO:0009987", + "UBERON:0010703", + "GO:0044238", + "HP:0002817", + "UPHENO:0001001", + "UPHENO:0087547", + "HP:0011297", + "GO:0071704", + "GO:0009889", + "HP:0030680", + "GO:0048232", + "UPHENO:0050113", + "GO:0060255", + "GO:0034641", + "UBERON:0002529", + "HP:0009826", + "UBERON:0003135", + "GO:0031323", + "UBERON:0002513", + "GO:0022414", + "UPHENO:0084761", + "UPHENO:0002649", + "UPHENO:0031839", + "CL:0000000", + "GO:0031324", + "UPHENO:0087510", + "UBERON:5002544", + "HP:0003220", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0012541", + "GO:0031052", + "UBERON:0000489", + "HP:0000079", + "GO:0048523", + "UBERON:0010741", + "HP:0002023", + "HP:0006265", + "UPHENO:0078606", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0080099", + "GO:0006996", + "UBERON:0005881", + "UBERON:0001062", + "UBERON:0010314", + "HP:0011961", + "GO:0043170", + "UBERON:0003133", + "UBERON:5006048", + "GO:0005623", + "UPHENO:0076703", + "UBERON:0002386", + "UBERON:0015021", + "UPHENO:0086635", + "HP:0000812", + "UBERON:0000061", + "GO:1901360", + "GO:0032504", + "BFO:0000004", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0000465", + "GO:0008152", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0019231", + "GO:0071824", + "BFO:0000001", + "UPHENO:0002371", + "GO:0065007", + "HP:0003026", + "CL:0000019", + "HP:0006501", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0013765", + "HP:0000118", + "UBERON:0006058", + "UPHENO:0085874", + "GO:0048519", + "HP:0011314", + "UPHENO:0075195", + "UPHENO:0086132", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0002708", + "HP:0040068", + "GO:0050789", + "GO:0032501", + "UBERON:0013701", + "UPHENO:0050116", + "UPHENO:0050021", + "UPHENO:0001005", "GO:0008150", - "UBERON:0006983", - "UPHENO:0084727", - "UPHENO:0076805", - "UPHENO:0088168", - "UPHENO:0084715", - "UPHENO:0087430", - "UBERON:0002268", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0002470", - "UBERON:0007827", + "UBERON:0006866", + "BFO:0000040", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0017716", + "GO:0019222", + "UPHENO:0076783", + "UBERON:0000153", + "UPHENO:0049873", + "UPHENO:0002647", + "GO:0010629", + "HP:0001626", + "HP:0040012", + "UBERON:0010707", + "UBERON:0004120", + "HP:0025354", + "UPHENO:0050121", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", "CL:0000300", - "HP:0012130", - "UBERON:0001008", - "UPHENO:0041629", + "HP:0000083", + "UPHENO:0005597", + "UBERON:0002428", + "UPHENO:0012274", + "UBERON:0002113", + "UPHENO:0049990", + "RO:0002577", + "HP:0010461", + "UBERON:5002389", + "BFO:0000003", + "PR:000050567", + "GO:0010556", + "UBERON:0007272", + "UPHENO:0088142", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0087802", + "UBERON:0010912", + "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", - "UPHENO:0082129", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0100542", - "UBERON:0000916", - "UPHENO:0002907", - "HP:0010935", - "UPHENO:0002595", - "UBERON:0004122", - "UBERON:0010323", - "UBERON:0000489", - "GO:0031052", - "HP:0000085", - "UBERON:8450002", - "UBERON:0005173", - "UPHENO:0041226", - "UBERON:0011143", - "UBERON:0005177", - "UBERON:0008962", - "UBERON:0001463", - "UBERON:0008907", - "HP:0012210", - "UPHENO:0087427", - "UPHENO:0050113", - "GO:0008152" - ], - "has_phenotype_closure_label": [ - "Pelvic kidney", - "Ectopic kidney", - "reproductive process", - "Abnormal testis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male gamete generation", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "decreased developmental process", - "absent gamete", - "sperm", - "reproductive structure", - "decreased qualitatively developmental process", - "decreased spermatogenesis", - "external male genitalia", - "testis", - "Abnormal reproductive system morphology", - "Azoospermia", - "male germ cell", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "organism substance", - "semen", - "reproduction", - "abnormal testis morphology", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "abnormal location of anatomical entity", - "spermatogenesis", - "absent anatomical entity in the semen", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "abnormal gamete", - "Abnormality of reproductive system physiology", - "haploid cell", - "reproductive system", - "Cryptorchidism", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "abnormal internal genitalia", - "germ cell", - "gamete", - "abnormality of reproductive system physiology", - "absent germ cell", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal developmental process", - "sensory perception", - "decreased sensory perception of sound", - "abnormal sensory perception", - "Hearing abnormality", - "abnormality of anatomical entity physiology", - "ear", - "multicellular organismal process", - "sensory perception of sound", - "system process", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "nervous system process", - "abnormal nitrogen compound metabolic process", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "cellular process", - "abnormal DNA metabolic process", - "Abnormality of head or neck", - "craniocervical region", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "regional part of nervous system", - "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", - "main body axis", - "abnormal kidney morphology", - "Narrow palpebral fissure", - "renal system", - "multi-tissue structure", - "axial skeleton plus cranial skeleton", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "sensory system", - "abnormal nervous system", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "pigmentation", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormality of skin pigmentation", - "skeleton of limb", - "neural crest-derived structure", - "aplasia or hypoplasia of skull", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased qualitatively biological_process in independent continuant", - "absent sperm", - "limb segment", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal integument", - "biological_process", - "obsolete multicellular organism reproduction", - "cellular organisms", + "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", + "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", + "UBERON:0011676", + "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", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "UPHENO:0086198", + "UPHENO:0049367", + "UPHENO:0085873", + "UBERON:0000473", + "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", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0025023", + "HP:0002034" + ], + "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", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", + "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", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "growth", + "decreased size of the multicellular organism", + "Renal cyst", + "intestine atresia", + "Proximal placement of thumb", + "deviation of manual digit", + "Short digit", + "Eumetazoa", + "Eukaryota", + "decreased length of manual digit", + "decreased length of manual digit 1", + "Short finger", + "Abnormality of the genital system", + "abnormal reproductive system", + "internal male genitalia", + "testis", "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", - "bone cell", - "Abnormal myeloid cell morphology", - "abnormal manus morphology", - "Neoplasm", - "digit", - "Hyperpigmentation of the skin", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", + "Azoospermia", + "Abnormality of the male genitalia", + "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", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal immune system morphology", - "Absent thumb", - "abnormal autopod region morphology", - "agenesis of anatomical entity", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "skeleton of manus", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", - "organism", - "Neoplasm of the skin", - "anatomical system", - "segment of autopod", - "organic cyclic compound metabolic process", - "aplastic manual digit 1", - "dentary", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal size of anatomical entity", - "material anatomical entity", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", + "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", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "facial skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "multi-limb segment region", - "endochondral element", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "skeletal element", - "zeugopod", - "body proper", - "central nervous system", - "Abnormality of limb bone", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased size of the anatomical entity", - "limb", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "trunk region element", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", + "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", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "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", - "quality", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "primary metabolic process", - "Abnormality of the skin", + "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", + "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", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "abnormal craniocervical region morphology", - "continuant", - "lateral structure", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "compound organ", - "eye", - "skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "forelimb zeugopod", "Aplasia/Hypoplasia of fingers", "digitopodium region", - "appendage", - "root", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", - "postcranial axial skeletal system", - "abnormal digit morphology", - "skeleton of lower jaw", - "subdivision of organism along appendicular axis", - "skull", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "absent manual digit", - "abnormal radius bone morphology", + "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", - "decreased length of palpebral fissure", - "abnormal blood cell", - "erythrocyte", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "system", - "bone marrow cell", - "appendicular skeletal system", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "Aplasia/hypoplasia involving the skeleton", - "decreased qualitatively biological_process", - "anatomical entity", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "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", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "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", "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "organism subdivision", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "skeletal system", - "motile cell", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal mouth", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "digit 1 plus metapodial segment", + "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", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "manual digit 1", - "regulation of metabolic process", "autopodial extension", - "abnormal face", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal forebrain morphology", - "abnormal nervous system morphology", - "abnormal cell morphology", - "telencephalon", - "forebrain", - "blood cell", - "head bone", - "Abnormality of the genitourinary system", - "cranial skeletal system", - "postcranial axial skeleton", - "Decreased head circumference", - "pectoral complex", - "dermatocranium", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "mesoderm-derived structure", - "Squamous cell carcinoma", - "delayed growth", - "axial skeletal system", + "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", + "absent manual digit", + "abnormal phenotype by ontology source", "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", - "Abnormal localization of kidney", - "cellular component organization or biogenesis", + "abnormal palmar part of manus morphology", "programmed DNA elimination by chromosome breakage", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Abnormality of the orbital region", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "orbital region", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal size of palpebral fissure", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "abnormal bone of pectoral complex morphology", + "abnormal cell", + "regulation of macromolecule biosynthetic process", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", "orifice", - "ocular adnexa", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Abnormality of the face", + "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 ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "abnormal hematopoietic system", - "Abnormality of the immune system", - "regulation of macromolecule biosynthetic process", - "multicellular organism", - "Thrombocytopenia", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "skin of body", + "Abnormal thumb morphology", "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "root", + "appendage", + "Abnormal internal genitalia", + "regulation of cellular process", + "abnormal growth", + "independent continuant", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "abnormal intestine morphology", + "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", - "disconnected anatomical group", - "abnormal cell", - "cavitated compound organ", - "Abnormal leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", + "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", + "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", - "Aplasia/hypoplasia affecting bones of the axial skeleton", + "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 qualitatively biological_process", + "abnormal cellular component organization", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "pectoral appendage", + "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", + "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", + "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", - "bone element hypoplasia in face", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "subdivision of tube", - "aplasia or hypoplasia of mandible", + "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", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal digit", - "lower jaw region", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", + "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", - "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "abnormal male reproductive system", - "abnormal mouth morphology", - "mouth", - "abnormal mandible morphology", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "Abnormality of body height", - "tube", - "Abnormality of the genital system", - "intramembranous bone", + "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", - "bone of craniocervical region", - "anatomical entity hypoplasia in face", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", + "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", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", + "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", "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "Short finger", - "Short digit", - "anterior region of body", - "decreased length of manual digit 1", - "Abnormal nasal tip morphology", - "aplastic anatomical entity", - "Bulbous nose", - "Abnormal external nose morphology", - "entire sense organ system", - "abnormal external nose morphology", - "nose", - "immaterial anatomical entity", - "Abnormality of the nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "anatomical point", - "olfactory organ", - "abnormal erythrocyte morphology", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "anatomical system", + "anal region", + "paired limb/fin skeleton", + "compound organ", + "obsolete cell", + "zeugopodial skeleton", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal gamete generation", "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "excretory system", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "Abnormality of the kidney", - "Horseshoe kidney", - "developmental process", - "negative regulation of metabolic process", + "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", - "shape kidney", - "abnormal renal system", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", + "manual digit 1 plus metapodial segment", + "cardiovascular system", "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "upper urinary tract", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal chromatin organization", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "cellular component organization" + "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", + "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" ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "highlight": null, "score": null }, @@ -11385,11 +11385,10 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0001942", "HP:0003648", "HP:0001324", - "HP:0003155", + "HP:0002749", "HP:0002148", "HP:0000124", "HP:0003109", @@ -11397,17 +11396,17 @@ "HP:0002748", "HP:0034359", "HP:0003076", + "HP:0003155", "HP:0003355", "HP:0004322", "HP:0003126", "HP:0000083" ], "has_phenotype_label": [ - "Osteomalacia", "Metabolic acidosis", "Lacticaciduria", "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", + "Osteomalacia", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", @@ -11415,219 +11414,178 @@ "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": [ - "UPHENO:0068565", "CHEBI:37622", - "CHEBI:15841", - "CHEBI:32988", - "CHEBI:16541", "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:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - "UPHENO:0000541", "UPHENO:0075159", - "UPHENO:0068169", + "UPHENO:0051670", "CHEBI:35605", - "UPHENO:0068495", - "CHEBI:33575", + "CHEBI:36587", + "UPHENO:0068538", + "UPHENO:0068040", + "UPHENO:0068169", + "HP:0003355", "CHEBI:24651", + "CHEBI:33575", + "UPHENO:0068495", "UPHENO:0046286", - "HP:0003355", - "CHEBI:36587", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068091", "HP:0031980", - "UPHENO:0051670", "CHEBI:33709", - "UPHENO:0068040", - "CHEBI:33608", - "UPHENO:0068144", - "UPHENO:0068538", + "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", "UPHENO:0080658", "UPHENO:0000543", "HP:0003076", "HP:0000002", "HP:0033354", "UPHENO:0068054", + "CHEBI:33285", + "CHEBI:50860", "CHEBI:36962", "CHEBI:25806", - "CHEBI:17234", - "CHEBI:35381", "CHEBI:18133", - "HP:0034359", - "UPHENO:0051191", - "CHEBI:33917", - "HP:0011038", - "GO:0003008", - "GO:0003014", - "UPHENO:0051280", - "HP:0011036", - "CHEBI:33504", - "CHEBI:33694", - "UPHENO:0077821", - "CHEBI:36357", - "PR:000018263", - "CHEBI:33675", - "HP:0004379", - "HP:0000079", - "CHEBI:35352", - "HP:0100529", - "UPHENO:0068971", - "CHEBI:33695", + "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", - "CHEBI:50860", - "HP:0012379", - "BFO:0000020", - "UPHENO:0012541", - "UPHENO:0068491", - "CHEBI:36360", - "PR:000064867", - "UPHENO:0046362", - "UPHENO:0081777", - "UBERON:0009773", - "HP:6000531", - "UPHENO:0068352", + "HP:0000118", + "UBERON:0001434", + "UBERON:0002204", + "HP:0011849", + "UPHENO:0048707", + "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", + "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", - "GO:0070293", - "UBERON:0004111", - "UPHENO:0068511", - "BFO:0000002", - "CHEBI:60004", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0082542", - "HP:0000119", - "UPHENO:0002964", - "UBERON:0001088", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0000179", - "UPHENO:0046284", - "HP:0012072", - "HP:0032943", - "CHEBI:36963", - "UPHENO:0051186", - "UPHENO:0080555", - "UPHENO:0024906", - "HP:0001939", "UPHENO:0001002", "CHEBI:60242", - "BFO:0000003", - "CHEBI:59999", - "PR:000050567", - "UPHENO:0082835", - "CHEBI:64709", - "UPHENO:0079536", - "UBERON:0003914", - "HP:0001942", - "UBERON:0011216", - "UBERON:0001434", - "UBERON:0005090", - "UBERON:0000468", - "UPHENO:0034253", - "HP:0000093", - "GO:0055062", - "UBERON:0002417", - "CHEBI:22314", - "GO:0008152", "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0051635", - "UBERON:0000383", - "UPHENO:0001005", - "CHEBI:15693", - "UPHENO:0081544", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "HP:0000083", - "HP:0011804", - "GO:0032501", - "GO:0050801", - "UBERON:0001015", - "CHEBI:37247", - "UPHENO:0051640", - "UPHENO:0081546", - "CHEBI:51143", - "HP:0004360", - "UPHENO:0034391", - "HP:0000118", - "UPHENO:0068094", - "UBERON:0000178", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011849", - "UPHENO:0048707", - "UBERON:0001231", - "UPHENO:0068110", - "UBERON:0003103", - "UPHENO:0002320", - "UPHENO:0084653", - "UPHENO:0001001", - "UBERON:0000062", - "UPHENO:0084654", - "UPHENO:0034351", - "UPHENO:0068292", - "UBERON:0001474", - "UPHENO:0082875", - "UBERON:0002100", - "CHEBI:28358", - "UPHENO:0076703", - "UPHENO:0015280", - "UPHENO:0081548", - "UBERON:0002204", - "UPHENO:0082539", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082538", - "UBERON:0000489", - "BFO:0000001", - "CHEBI:24833", - "UBERON:0001008", - "UPHENO:0082834", - "BFO:0000040", - "HP:0004349", - "GO:0042592", - "HP:0004348", - "HP:0002749", - "CHEBI:23906", - "HP:0003011", - "HP:0012337", - "UBERON:0006314", + "GO:0008152", + "UPHENO:0046284", + "HP:0004348", + "HP:0012072", "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0068089", - "BFO:0000015", + "UBERON:0006314", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0068511", + "BFO:0000002", + "HP:0001942", + "CHEBI:33238", + "UPHENO:0049628", "UBERON:0000174", "HP:0000924", - "HP:0003330", - "UPHENO:0078554", - "UPHENO:0002332", - "CHEBI:33259", - "HP:0011277", - "UPHENO:0046283", - "UBERON:0001630", - "HP:0033127", - "CHEBI:33285", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", "UPHENO:0001003", "HP:0003155", "UPHENO:0080556", @@ -11635,493 +11593,535 @@ "UBERON:0000467", "UBERON:0004765", "UPHENO:0081550", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "HP:0003110", - "CHEBI:36359", + "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", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", "UBERON:0001062", "CHEBI:72695", "UPHENO:0068064", - "CHEBI:26079", - "CHEBI:33839", - "UPHENO:0082943", - "UPHENO:0075666", - "UPHENO:0002411", - "UBERON:0004120", - "HP:0002148", - "CHEBI:33304", - "HP:0010930", - "UBERON:0013702", - "UPHENO:0050080", - "GO:0098771", - "UPHENO:0004459", - "UPHENO:0080351", - "UPHENO:0076286", + "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", - "CHEBI:26082", - "UPHENO:0049904", - "UPHENO:0066739", - "UPHENO:0075902", + "UBERON:0004120", + "CHEBI:17234", "GO:0048878", - "UPHENO:0051937", - "UBERON:0002193", - "UPHENO:0051960", - "CHEBI:24870", - "UBERON:0000064", - "CHEBI:33241", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "HP:0001510", - "HP:0003109", - "HP:0034684", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "UPHENO:0051739", - "UPHENO:0079824", - "UPHENO:0051900", - "UPHENO:0049628", - "CHEBI:33238", - "UPHENO:0052008", "HP:0040156", "UBERON:0000463", "CHEBI:26020", - "UPHENO:0034217", + "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", - "PR:000003968", - "UBERON:0000479", - "UPHENO:0051686", - "CHEBI:36915", - "UBERON:0000475", - "HP:0012211", + "UBERON:0004122", + "HP:0010935", "UBERON:0015212", - "CHEBI:78616", - "HP:0000077", + "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", - "UPHENO:0049709", "HP:0004322", "CHEBI:26216", - "UBERON:0004211", - "UBERON:0007684", - "UBERON:0004122", - "HP:0010935", - "UBERON:0005172", - "HP:0003126", - "HP:0002748", - "UPHENO:0002832", - "UPHENO:0002803", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UPHENO:0002816", - "UBERON:0011143", - "UBERON:0004819", + "UPHENO:0049709", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", "HP:0012599", - "CHEBI:33296", + "UPHENO:0051898", "PR:000000001", "UPHENO:0034199", - "UPHENO:0051898", - "UPHENO:0081547", - "CHEBI:25414", - "UPHENO:0068058", - "CHEBI:33674", - "UPHENO:0051930", - "CHEBI:33559", - "CHEBI:25213", - "CHEBI:26217", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0081544", + "CHEBI:15693", "UPHENO:0051645", + "CHEBI:33296", "HP:0010929", - "UPHENO:0051958", + "UPHENO:0034438", + "CHEBI:26217", "UPHENO:0052116", "CHEBI:24835", - "CHEBI:36586", - "CHEBI:33521", - "CHEBI:36914", - "UPHENO:0034438", - "UBERON:0006555", - "GO:0055080", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", "UBERON:0000061", "CHEBI:36916", "UPHENO:0079822", - "HP:0003648", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "CHEBI:25213", + "UPHENO:0051958", "HP:0001941", + "HP:0003648", "UPHENO:0051804", - "CHEBI:29103" + "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", - "carboxamide", + "peptide", "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", "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", - "peptide", - "growth", - "Growth delay", "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", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "increased level of carboxylic acid in independent continuant", "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", - "increased level of amino acid in urine", + "Organic aciduria", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of organic acid in urine", "hydroxides", "organic molecule", - "carbonyl compound", + "abnormal urine amino acid level", + "increased level of amino acid in urine", "abnormal size of anatomical entity", "abnormal amino acid level", - "Organic aciduria", - "abnormal urine amino acid level", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", - "amino acid", - "Elevated urinary carboxylic acid", - "increased level of organic acid in independent continuant", + "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 urine metabolite level", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "oxygen molecular entity", - "organooxygen compound", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", "abnormal independent continuant glucose level", - "aldohexose", - "increased level of organic molecular entity in independent continuant", - "glucose", - "aldose", - "hexose", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", - "monosaccharide", - "abnormal renal system process", - "renal absorption", - "abnormal renal absorption", - "abnormal independent continuant amino acid level", - "renal system process", + "increased level of monosaccharide in urine", "organic molecular entity", - "protein-containing molecular entity", - "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", + "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", - "abnormality of muscle organ physiology", - "increased level of protein", - "increased level of glucose in urine", - "body proper", - "decreased muscle organ strength", + "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", - "abdominal segment of trunk", - "musculature of body", - "monoatomic cation", - "Abnormality of the upper urinary tract", - "chemical substance", - "abnormal independent continuant potassium atom level", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "increased level of rac-lactic acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "organic oxo compound", - "excreta", - "abnormal acid bodily fluid level", - "monoatomic monocation", - "Abnormality of the urinary system", - "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "increased level of rac-lactic acid in independent continuant", - "skeletal element", - "cavitated compound organ", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "chemical entity", - "increased independent continuant acid level", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased bodily fluid acid level", - "abnormal blood monoatomic ion level", - "decreased level of potassium atom in blood", - "Metabolic acidosis", - "homeostatic process", - "protein", - "phenotype by ontology source", - "decreased level of chemical entity in blood", + "abnormal renal absorption", + "skeletal system", + "abnormal size of multicellular organism", + "bone element", "decreased size of the multicellular organism", "Decreased bone element mass density", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "Phenotypic abnormality", - "Hyperphosphaturia", + "increased level of monosaccharide in independent continuant", "abnormal anatomical entity mass density", "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "Abnormal bone structure", - "anatomical system", - "potassium(1+)", - "All", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "abnormal size of multicellular organism", - "bone element", - "Abnormal renal tubular resorption", - "anatomical entity", - "multicellular anatomical structure", - "heteroorganic entity", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", "abnormal bone element mass density", "decreased role independent continuant level", - "Muscle weakness", + "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", - "abnormal musculature", + "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", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "genitourinary system", - "atom", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "carbon group molecular entity", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "Abnormal circulating enzyme concentration or activity", - "organism subdivision", + "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", - "material entity", - "organic amino compound", - "Acidosis", - "increased level of chemical entity", - "inorganic cation", - "Glycosuria", - "information biomacromolecule", - "abdominal segment element", - "Abnormal bone ossification", - "decreased size of the anatomical entity", - "blood", - "racemate", + "anatomical system", + "Abnormal bone structure", + "potassium(1+)", + "abnormal blood chemical entity level", "phosphate ion homeostasis", - "inorganic ion", - "abnormal genitourinary system", + "racemate", "Aminoaciduria", "organ system subdivision", - "primary amide", - "elemental molecular entity", - "nitrogen molecular entity", - "renal system", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "Abnormality of the genitourinary system", - "Reduced bone mineral density", - "inorganic ion homeostasis", - "Impaired renal tubular reabsorption of phosphate", - "multicellular organism", - "hematopoietic system", - "abnormal monoatomic cation homeostasis", - "alkaline phosphatase, tissue-nonspecific isozyme", - "nephron epithelium", - "polyatomic entity", + "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", - "Abnormal enzyme concentration or activity", - "p-block molecular entity", - "biomacromolecule", - "Abnormality of urine homeostasis", - "upper urinary tract", - "occurrent", - "organ", - "skeletal system", - "Abnormality of the urinary system physiology", - "abnormal blood chemical entity level", - "macromolecule", - "material anatomical entity", - "muscle structure", + "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", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "organism substance", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "main group molecular entity", + "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", - "chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal chemical homeostasis", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "haemolymphatic fluid", - "ion", - "abnormal homeostatic process", - "multicellular organismal process", - "abnormal blood phosphate level", - "Hypophosphatemia", - "monoatomic ion", + "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", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", + "trunk", "molecular entity", "Abnormality of blood and blood-forming tissues", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "trunk", + "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", - "excretory system", - "abnormal independent continuant monoatomic ion level", + "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", - "phosphorus oxoacids and derivatives", + "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", - "abdomen", - "Renal tubular dysfunction", - "abnormal kidney", - "trunk region element", - "Abnormality of the kidney", "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", - "excretory tube", - "kidney", - "oxoacid derivative", - "increased level of phosphate in urine", + "carbohydrates and carbohydrate derivatives", "mesoderm-derived structure", "Abnormal urinary electrolyte concentration", - "musculature", - "decreased role blood level", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "s-block molecular entity", - "s-block element atom", + "aldohexose", + "oxoacid derivative", + "increased level of phosphate in urine", "Abnormal blood cation concentration", "organonitrogen compound", "abnormal independent continuant potassium(1+) level", - "abnormal blood 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", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "elemental potassium", "Hypokalemia", - "Abnormal blood monovalent inorganic cation concentration", "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", - "decreased level of chemical entity", "abnormal phosphate level", - "system process" + "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, @@ -12176,39 +12176,36 @@ "Short stature" ], "has_phenotype_closure": [ + "HP:0000002", "GO:0040007", + "UPHENO:0049874", "UPHENO:0081424", "UPHENO:0000543", - "UPHENO:0049874", + "HP:0001510", "HP:0001507", "UPHENO:0012541", - "HP:0000002", - "HP:0001510", - "HP:0001877", - "CL:0000329", - "HP:0012130", "UPHENO:0088162", + "CL:0000329", "CL:0000764", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", + "HP:0001877", + "HP:0012130", + "GO:0005623", + "UPHENO:0049990", + "UPHENO:0050121", "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", + "UPHENO:0050021", "UPHENO:0050116", "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", "GO:0010468", "GO:0010558", "GO:0031327", "GO:0006325", + "UPHENO:0049748", + "GO:0031049", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "GO:0071840", "GO:0050794", "GO:0019222", "GO:0048519", @@ -12216,113 +12213,85 @@ "GO:1901360", "GO:0043170", "GO:0046483", - "UPHENO:0050845", - "HP:0003220", - "GO:0071840", "UPHENO:0078606", "UPHENO:0050113", + "HP:0003220", "GO:0031052", - "CHEBI:24431", - "UPHENO:0051680", - "HP:0006254", - "UBERON:0010323", - "UPHENO:0086045", - "HP:0000234", - "UPHENO:0088338", - "UPHENO:0087089", - "UPHENO:0087123", - "HP:0000252", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0000541", - "HP:0001874", + "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:0088170", + "GO:0044238", + "UPHENO:0001001", + "UBERON:0034923", "GO:0010605", "GO:0009892", "UPHENO:0080079", "NCBITaxon:2759", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000152", - "UBERON:0000475", - "HP:0000240", + "HP:0004322", + "UBERON:0003129", "UBERON:0001434", - "UPHENO:0076805", - "HP:0025461", - "HP:0002060", - "CL:0000988", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "HP:0010987", - "UPHENO:0081435", - "HP:0000924", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0022529", - "UPHENO:0049587", - "UPHENO:0002844", - "UPHENO:0001002", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", + "HP:0033127", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0000234", + "UPHENO:0088338", "UBERON:0011676", "UBERON:0000061", - "UPHENO:0001003", - "GO:0050789", - "UBERON:0013701", - "HP:0001881", - "UPHENO:0085344", - "UPHENO:0063722", - "HP:0001872", - "HP:0032180", "UPHENO:0075159", "HP:0100547", - "GO:0071704", - "CL:0000219", - "UBERON:0011137", - "BFO:0000020", - "HP:0011991", - "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", - "CHEBI:33256", - "UBERON:0000062", "UPHENO:0086019", "UPHENO:0011498", "UPHENO:0077822", "UBERON:0011216", - "UPHENO:0076703", - "UBERON:0002193", - "CL:0001035", - "UPHENO:0085354", - "PR:000018263", - "UPHENO:0076799", - "UBERON:0000481", + "HP:0009121", + "CHEBI:15841", "UPHENO:0020584", "UPHENO:0087518", "OBI:0100026", "CL:0000766", - "UPHENO:0084928", - "UPHENO:0088318", - "HP:0000001", - "HP:0011875", - "HP:0430071", - "UPHENO:0085042", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "HP:0012443", - "HP:0032251", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", + "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:0076703", + "UPHENO:0085354", + "PR:000018263", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UBERON:0004120", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0007811", + "CL:0000255", + "CL:0000738", "UPHENO:0049700", "HP:0001911", - "UPHENO:0085405", - "UPHENO:0002764", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", "GO:0006807", "UPHENO:0006910", "CL:0002242", @@ -12331,229 +12300,261 @@ "UPHENO:0085076", "BFO:0000003", "UPHENO:0085356", - "PATO:0000001", - "UBERON:0034923", - "HP:0040012", - "UPHENO:0086005", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0085118", - "HP:0002715", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "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", - "UPHENO:0004523", - "UPHENO:0086176", + "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", "GO:0065007", - "HP:0010974", "UPHENO:0085070", - "CHEBI:36963", + "HP:0010974", + "HP:0012443", + "UPHENO:0088318", + "UPHENO:0084928", "HP:0000118", "UBERON:0000033", "UBERON:0000178", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0001875", - "UPHENO:0077426", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "UPHENO:0085984", - "CHEBI:51143", - "CL:0000255", - "UPHENO:0085189", - "UPHENO:0051612", - "CL:0000738", - "CL:0000763", - "CL:0000458", - "UPHENO:0088170", - "GO:0044238", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", - "CHEBI:37622", - "HP:0004322", - "UBERON:0003129", - "UPHENO:0086016", - "CL:0000000", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0004120", - "CL:0000094", + "UPHENO:0063722", + "HP:0001872", + "HP:0032180", + "UPHENO:0086176", + "UPHENO:0004523", + "UPHENO:0002764", + "UPHENO:0085405", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "GO:0050789", + "UBERON:0013701", + "UPHENO:0001003", + "UPHENO:0080200", + "UBERON:0001890", "UPHENO:0046362", + "CL:0000094", "HP:0007364", + "CHEBI:24431", "UBERON:0000468", - "HP:0032309", - "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", + "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", "NCBITaxon:33208", "UPHENO:0076692", "UPHENO:0002536", - "UBERON:0010314", - "UBERON:0001062", - "UPHENO:0088321", - "CL:0000775", - "UBERON:0000075", - "UBERON:0010912", - "CL:0000225", - "UBERON:0010000", + "UPHENO:0085984", + "CHEBI:51143", + "HP:0001875", + "UPHENO:0077426", "UBERON:0002390", - "CHEBI:15841", + "UBERON:0010000", + "HP:0000252", + "UPHENO:0081566", + "HP:0006254", "GO:0031326", "UBERON:0002090", "CHEBI:23367", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "HP:0000152", + "UPHENO:0087907", + "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", - "UBERON:0002204", - "GO:0044237", - "HP:0002977", - "NCBITaxon:131567", - "NCBITaxon:33154", - "GO:0006725", - "UBERON:0001893", - "UPHENO:0080200", - "UBERON:0001890", - "HP:0033127", - "UPHENO:0076702", + "HP:0000240", + "UBERON:0000475", "HP:0001903", - "UBERON:0005944", "UPHENO:0088176", + "UBERON:0005944", "UBERON:0034925", "BFO:0000040", "HP:0033405", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "UBERON:0007811", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0086173", + "CL:0000775", + "UBERON:0000075", + "UPHENO:0051680", + "CL:0000225", + "UBERON:0010912", + "UBERON:0000062", "UPHENO:0086049", "HP:0011017", "PR:000000001", - "UPHENO:0084987", - "UPHENO:0048707", + "UPHENO:0086173", + "CL:0000151", "CL:0000232", "HP:0011873", - "CL:0000151", "UPHENO:0085302", - "UBERON:0004288", - "UPHENO:0085144", + "UPHENO:0084987", + "UPHENO:0048707", "HP:0020047", "CL:0002092", - "CHEBI:33579", "UPHENO:0051668", + "CHEBI:33579", "UPHENO:0087355", "UPHENO:0049873", "UBERON:0000153", "HP:0005561", + "UPHENO:0085195", "UPHENO:0087339", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0005528", - "UBERON:0002371", "GO:0006259", "UBERON:0001474", - "UPHENO:0085195", + "UBERON:0002371", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0005528", + "UPHENO:0035025", + "UBERON:0000479", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "UBERON:0002616", + "UPHENO:0048751", "UBERON:0001016", "CHEBI:36357", "UPHENO:0077821", "UBERON:0000463", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:16670", - "HP:0004364", "HP:0010876", "UPHENO:0085330", "GO:0008152", - "UBERON:0002616", - "UPHENO:0048751", "UPHENO:0046284", - "CHEBI:50860", - "CHEBI:16541", - "UPHENO:0068971", - "CHEBI:33695", - "UBERON:0001017", - "UPHENO:0081547", + "CHEBI:33694", "CHEBI:25806", + "CHEBI:50860", + "UPHENO:0051801", "CL:0000081", "CHEBI:35352", "UPHENO:0085068", "CHEBI:32988", "GO:0009987", "CHEBI:33285", + "BFO:0000015", + "CHEBI:33675", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", "UPHENO:0051763", + "UBERON:0001017", + "UPHENO:0081547", "UPHENO:0020888", "UPHENO:0077813", "GO:0008150", - "CHEBI:33675", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", - "BFO:0000015", - "CHEBI:33694", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0051801" + "HP:0004364" ], "has_phenotype_closure_label": [ - "delayed biological_process", - "Short stature", + "Abnormality of body height", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", "decreased height of the anatomical entity", + "Short stature", + "delayed biological_process", + "delayed growth", "Growth delay", "decreased size of the multicellular organism", - "Abnormality of body height", "abnormality of anatomical entity height", - "delayed growth", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", "abnormal erythrocyte morphology", - "abnormal primary metabolic process", + "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", - "regulation of cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", "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", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", "abnormal cellular component organization", "abnormal cellular metabolic process", - "obsolete cell", - "abnormal 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", "regulation of cellular process", @@ -12565,162 +12566,165 @@ "organelle organization", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "abnormal telencephalon morphology", - "anatomical entity", - "cellular organisms", - "polyatomic entity", - "Abnormality of head or neck", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "regional part of brain", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", + "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", "Abnormal leukocyte morphology", "Morphological central nervous system abnormality", "cell", "neutrophil", - "anterior region of body", - "multi-tissue structure", + "abnormal postcranial axial skeleton morphology", + "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", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "Chromosome breakage", - "abnormal chromatin organization", - "mesoderm-derived structure", - "macromolecule", - "anatomical system", - "main body axis", + "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", "immune system", "myeloid cell", "organonitrogen compound", "root", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", + "mesoderm-derived structure", + "macromolecule", + "organism", + "anatomical system", + "abnormal hematopoietic cell morphology", "Abnormal neutrophil count", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal bone marrow morphology", - "quality", + "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", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", + "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 cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", + "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", - "abnormal skull morphology", - "increased level of protein", - "abnormally decreased number of leukocyte in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "central nervous system", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "material anatomical entity", - "abnormal platelet morphology", - "Abnormal platelet count", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "nucleate cell", - "postcranial axial skeletal system", - "abnormal phenotype by ontology source", - "hematopoietic cell", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "abnormal immune system morphology", - "nitrogen molecular entity", - "chromatin organization", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", + "Decreased head circumference", + "abnormal granulocyte morphology", "abnormal brain morphology", "Abnormal cellular immune system morphology", - "amino acid chain", "tissue", + "amino acid chain", "abnormal axial skeleton plus cranial skeleton morphology", "organic molecular entity", - "primary amide", - "eukaryotic cell", - "skull", - "abnormal head", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "information biomacromolecule", - "multicellular organism", "hematopoietic system", - "abnormally decreased number of neutrophil", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal granulocyte morphology", + "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", - "regulation of macromolecule biosynthetic process", - "Abnormal circulating metabolite concentration", - "abnormally decreased number of granulocyte", + "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", - "Abnormal nervous system morphology", - "abnormally decreased number of cell", - "oxygen molecular entity", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "organic amino compound", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "material entity", - "abnormal alpha-fetoprotein level", + "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", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", + "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", @@ -12729,90 +12733,112 @@ "abnormal number of anatomical enitites of type cell", "abnormally decreased number of anatomical entity", "Elevated circulating alpha-fetoprotein concentration", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "abnormal size of multicellular organism", - "bone element", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal granulocyte morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "protein-containing molecular entity", - "skeleton", - "bone marrow", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal immune system", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of the head", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "erythrocyte", - "abnormal blood cell", - "organ system subdivision", - "abnormal size of skull", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "organism subdivision", - "decreased size of the anatomical entity", - "blood", - "subdivision of skeleton", + "skull", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "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", - "postcranial axial skeleton", - "abnormal skeletal system", + "Abnormality of head or neck", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "abnormal bone marrow morphology", + "skeleton", + "bone marrow", + "cellular organisms", + "polyatomic entity", "Metazoa", - "axial skeleton plus cranial skeleton", "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", - "abnormal craniocervical region", - "organism", - "Decreased head circumference", + "subdivision of skeleton", + "abnormal telencephalon morphology", + "central nervous system", + "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 platelet", - "cellular metabolic process", - "biogenic amine secreting cell", "abnormal blood chemical entity level", + "abnormal platelet", "abnormal number of anatomical enitites of type platelet", "abnormally decreased number of platelet", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "bone cell", + "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", - "Bone marrow hypocellularity", - "skeletal element", "negative regulation of cellular metabolic process", "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", + "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", + "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", - "peptide", + "abnormal independent continuant alpha-fetoprotein level", + "abnormal independent continuant protein level", + "head", + "amide", + "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", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "abnormal role independent continuant level", - "abnormal independent continuant protein level", - "chalcogen molecular entity", + "p-block molecular entity", + "biomacromolecule", + "heteroorganic entity", + "Abnormal platelet morphology", + "alpha-fetoprotein", "entity", "subdivision of skeletal system", "Abnormal circulating protein concentration", @@ -12821,1181 +12847,1426 @@ "abnormal protein level", "metabolic process", "bodily fluid", - "organism substance", - "organ", - "occurrent", - "increased level of alpha-fetoprotein", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "organic substance metabolic process", - "Abnormal cellular physiology", - "increased level of chemical entity", - "head", - "amide", - "platelet", - "organooxygen compound", - "abnormal independent continuant alpha-fetoprotein level", - "p-block molecular entity", - "biomacromolecule", - "Abnormal platelet morphology", - "heteroorganic entity", - "alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", "abnormal blood nitrogen molecular entity level", "Abnormal circulating organic amino compound concentration", - "abnormal multicellular organism chemical entity level", - "main group molecular entity", - "negative regulation of cellular biosynthetic process" + "peptide", + "cellular component organization or biogenesis" ], "has_phenotype_count": 8, "highlight": null, "score": null }, { - "id": "MONDO:0014986", + "id": "MONDO:0012565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", + "name": "Fanconi anemia complementation group N", "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 PALB2 gene.", + "xref": [ + "DOID:0111094", + "GARD:15500", + "MESH:C563657", + "OMIM:610832", + "UMLS:C1835817" + ], "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" + "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": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0001249", + "HP:0000470", + "HP:0002984", "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", + "HP:0002667", "HP:0000252", - "HP:0001510", - "HP:0006349", + "HP:0004808", + "HP:0002885", + "HP:0001631", + "HP:0009778", "HP:0000125", - "HP:0005528", "HP:0000568", - "HP:0007099", - "HP:0001903", + "HP:0001518", + "HP:0001915", "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764" + "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": [ - "Intellectual disability", + "Short neck", + "Hypoplasia of the radius", "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", + "Nephroblastoma", "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", + "Acute myeloid leukemia", + "Medulloblastoma", + "Atrial septal defect", + "Short thumb", "Pelvic kidney", - "Bone marrow hypocellularity", "Microphthalmia", - "Chiari type I malformation", - "Anemia", + "Small for gestational age", + "Aplastic anemia", "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus" + "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": [ - "HP:0001574", - "HP:0011121", - "UBERON:0002416", - "UPHENO:0002635", - "UBERON:0005174", - "HP:0002144", - "UBERON:0002240", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "GO:0006996", - "HP:0001939", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "UPHENO:0050845", - "HP:0003220", - "GO:0071704", - "GO:0008152", - "UPHENO:0050113", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", - "CL:0000232", - "CL:0000081", - "UPHENO:0020013", - "HP:0011282", - "UPHENO:0081601", - "UPHENO:0071309", - "HP:0007099", - "UBERON:0004732", - "UPHENO:0072814", - "HP:0001317", - "UBERON:0000063", - "HP:0002438", - "UPHENO:0069523", - "HP:0012372", - "UBERON:0004088", - "HP:0000568", - "UPHENO:0012541", - "UPHENO:0075219", - "HP:0008056", - "HP:0000478", - "HP:0000315", - "UPHENO:0068971", - "UPHENO:0021474", - "UBERON:0034923", - "UPHENO:0002948", - "HP:0025354", - "UPHENO:0087123", - "HP:0012145", - "HP:0001871", - "HP:0005528", - "CL:0000000", - "UPHENO:0087339", - "UPHENO:0087355", - "HP:0020047", - "CL:0002092", - "HP:0002715", - "UBERON:0002371", - "UPHENO:0049367", - "UPHENO:0087858", - "HP:0012210", + "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", + 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"UPHENO:0084448", - "UBERON:0004710", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UBERON:5001463", - "HP:0000163", - "UPHENO:0002433", - "UBERON:0003947", - "NCBITaxon:2759", - "UBERON:0002389", - "UBERON:0001895", - "UPHENO:0002826", - "UBERON:0010740", - "UBERON:0004121", - "UBERON:0015203", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0011355", - "UBERON:0001359", - "UPHENO:0087006", - "UPHENO:0088047", + "CL:0002092", + "HP:0020047", + "UPHENO:0087355", + "CL:0000457", "UBERON:0000064", - "UPHENO:0056212", - "UPHENO:0078606", - "HP:0002664", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UPHENO:0035147", - "UBERON:0005282", + "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", - "UBERON:0000073", - "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "GO:0016043", - "HP:0002011", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0076805", - "GO:0031323", + "GO:0034641", + "UPHENO:0085070", + "GO:0065007", + "UBERON:0000479", + "UPHENO:0002896", + "GO:0043933", + "HP:0008678", + "GO:0006996", + "UPHENO:0050845", + "HP:0001939", "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "UPHENO:0047299", - "UBERON:0004086", - "UPHENO:0076702", - "HP:0031938", - "UBERON:0000463", - "UBERON:0000161", - "HP:0025031", - "UBERON:0002104", - "HP:0002118", - "UPHENO:0081451", - "UPHENO:0087349", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0086956", - "UPHENO:0079872", - "UPHENO:0002751", - "BFO:0000020", - "UBERON:0001555", - "UBERON:0006048", - "UPHENO:0087510", - "UPHENO:0080114", - "UBERON:0015001", - "UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UBERON:0010741", - "UBERON:0003466", - "UPHENO:0076718", - "HP:0000925", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", - "UBERON:0000025", - "UPHENO:0022529", - "HP:0009121", - "HP:0011793", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0025033", - "UBERON:0001245", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565" - ], - "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "skin of body", - "integument", - "integumental system", - "Nevus", - "Abnormal spinal cord morphology", - "spinal cord", - "Abnormal conus terminalis morphology", - "dorsum", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "abnormal organelle organization", - "programmed DNA elimination", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal cellular process", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormally formed anatomical entity", - "segmental subdivision of nervous system", - "hindbrain", - "Abnormal metencephalon morphology", - "Cerebellar malformation", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "cellular metabolic process", - "simple eye", + "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", - "eyeball of camera-type eye", - "decreased size of the anatomical entity in the independent continuant", - "orbital region", - "Abnormality of the orbital region", + "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 camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "Abnormality of blood and blood-forming tissues", - "abnormal cell", - "immune system", - "disconnected anatomical group", - "abnormal immune system", - "non-connected functional system", - "Abnormal cellular phenotype", - "Abnormality of the integument", "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "hemolymphoid system", - "Abnormality of the immune system", - "abnormal hematopoietic system", - "abnormal renal system morphology", - "abnormal anatomical entity topology in independent continuant", + "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", - "abnormally localised anatomical entity", - "Ectopic kidney", - "abnormal renal system", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormally localised anatomical entity in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abdomen", + "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", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormality of the face", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "anatomical cavity", - "abnormally decreased number of calcareous tooth", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "secondary dentition", - "abnormal mouth morphology", - "calcareous tooth", - "dentition", - "subdivision of tube", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "Abnormal number of teeth", - "myeloid cell", - "aplastic secondary dentition", - "abnormally decreased number of anatomical entity in the independent continuant", + "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", - "subdivision of digestive tract", - "delayed biological_process", - "Growth delay", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", - "delayed growth", - "abnormal size of anatomical entity", - "Decreased head circumference", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal forebrain morphology", - "Eukaryota", - "Eumetazoa", - "abnormal skull morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "abnormal telencephalon morphology", + "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", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", "body proper", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal kidney morphology", + "organ system subdivision", + "erythrocyte", + "abnormal blood cell", + "absent digit", + "nucleobase-containing compound metabolic process", + "phenotype", + "Abnormal cell morphology", "main body axis", - "subdivision of organism along main body axis", - "multi-tissue structure", + "abnormal kidney morphology", + "quality", + "abnormal forelimb zeugopod morphology", "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "aplasia or hypoplasia of anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "Aplasia/hypoplasia involving bones of the upper limbs", - "bone marrow cell", - "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", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "limb endochondral element", - "genitourinary system", - "forelimb skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "Abnormal finger morphology", - "abnormally formed cerebellum", + "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", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal appendicular skeleton morphology", - "multi-limb segment region", - "endochondral element", - "digit", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "head", - "Abnormality of limb bone", - "Neurodevelopmental delay", - "pectoral appendage", - "absent anatomical entity", - "brain ventricle", - "aplastic manual digit 1", - "abnormal growth", - "independent continuant", - "organic cyclic compound metabolic process", - "segment of autopod", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", + "craniocervical region", + "Abnormality of the digestive system", + "decreased anatomical entity mass", "Abnormal thumb morphology", - "phenotype by ontology source", - "skeletal system", - "root", - "appendage", - "tube", - "abnormal manual digit 1 morphology", - "organ subunit", - "Cognitive impairment", - "anatomical space", - "paired limb/fin", - "digestive system", - "upper limb segment", - "appendicular skeleton", - "abnormal anatomical entity morphology in the manus", - "manual digitopodium region", - "abnormal forelimb morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "abnormal dentition", - "Abnormal nervous system physiology", "subdivision of trunk", - "absent manual digit", "abnormal phenotype by ontology source", - "cerebrospinal fluid", - "Abnormal cell morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormality of the eye", - "abnormal upper urinary tract", - "mouth", - "musculoskeletal system", + "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", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "Neurodevelopmental abnormality", + "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", - "Abnormality of mental function", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Pelvic kidney", - "abnormality of nervous system physiology", - "skeleton of manus", - "lateral structure", - "digestive tract", - "process", - "hematopoietic system", - "multicellular organism", - "absent anatomical entity in the multicellular organism", - "agenesis of anatomical entity", - "abnormal face", - "autopodial extension", - "Bone marrow hypocellularity", - "skeletal element", - "zeugopod", - "negative regulation of gene expression", + "abdominal segment element", + "abnormal nitrogen compound metabolic process", + "increased pigmentation in skin of body", "Phenotypic abnormality", - "Abnormality of the hand", - "Abnormal appendicular skeleton morphology", - "Delayed ability to walk", - "material entity", - "abnormal cerebellum morphology", - "skeleton", - "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", + "Abnormal neck morphology", + "negative regulation of gene expression", "nervous system", - "abnormal limb bone morphology", - "cellular process", - "Abnormal digit morphology", - "decreased size of the anatomical entity", - "cognition", - "ventricular system of brain", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "organism", - "autopod region", - "biological_process", - "Finger aplasia", - "entire sense organ system", - "continuant", - "manual digit 1 plus metapodial segment", + "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", - "multicellular organismal process", - "abnormal skeletal system morphology", - "protein-containing material entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "forelimb zeugopod", + "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", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "digit plus metapodial segment", - "skeleton of limb", - "material anatomical entity", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", + "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", - "radius endochondral element", - "regulation of cellular biosynthetic process", + "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", - "Intellectual disability", - "abnormal digestive system morphology", - "bone marrow", - "acropodium region", - "Aplasia/hypoplasia of the extremities", - "forelimb", - "Abnormal skeletal morphology", - "aplasia or hypoplasia of manual digit", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "cavitated compound organ", + "Abnormal leukocyte count", + "abnormal hematopoietic cell morphology", "digit 1", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "postcranial axial skeleton", - "bone of free limb or fin", - "abnormal autopod region morphology", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "autopodial skeleton", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual 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 anus morphology", - "organism subdivision", - "occurrent", - "organ", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal head", - "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "trunk region element", - "pectoral complex", - "eye", - "Opisthokonta", - "paired limb/fin segment", - "appendicular skeletal system", - "skeleton of pectoral complex", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "abnormal manual digit morphology in the independent continuant", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "Microphthalmia", - "abnormal skeletal system", - "macromolecule metabolic process", - "appendage girdle complex", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "mesoderm-derived structure", - "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", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", - "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "Chiari malformation", - "anatomical conduit", - "Abnormality of the head", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "craniocervical region", - "abnormal long bone morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", + "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", - "abnormal anatomical entity morphology", - "arm bone", - "ventricle of nervous system", - "axial skeletal system", - "Radial dysplasia", - "Abnormal long bone morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "obsolete cell", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "dysgenesis of the anatomical entity", - "subdivision of head", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "trunk", - "Abnormality of the vertebral column", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal bone structure", - "abnormal vertebral column", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", + "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", - "Abnormality of the digestive system", - "anus", "protein-DNA complex organization", - "Abnormal anus morphology", + "negative regulation of macromolecule metabolic process", "DNA metabolic process", - "orifice", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "immaterial anatomical entity", - "anus atresia", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Chiari type I malformation", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Metazoa" + "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": 18, + "has_phenotype_count": 25, "highlight": null, "score": null } diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json index 0d3c5a6d1..43176f461 100644 --- a/frontend/fixtures/histopheno.json +++ b/frontend/fixtures/histopheno.json @@ -3,62 +3,62 @@ "items": [ { "label": "musculature", - "count": 1723, + "count": 1748, "id": "UPHENO:0002816" }, { "label": "nervous_system", - "count": 1089, + "count": 1097, "id": "UPHENO:0004523" }, { "label": "head_neck", - "count": 584, + "count": 592, "id": "UPHENO:0002764" }, { "label": "skeletal_system", - "count": 479, + "count": 500, "id": "UPHENO:0002964" }, { "label": "eye", - "count": 291, + "count": 292, "id": "UPHENO:0003020" }, { "label": "metabolism_homeostasis", - "count": 223, + "count": 225, "id": "HP:0001939" }, + { + "label": "blood", + "count": 182, + "id": "UPHENO:0004459" + }, { "label": "cardiovascular_system", "count": 181, "id": "UPHENO:0080362" }, - { - "label": "blood", - "count": 180, - "id": "UPHENO:0004459" - }, { "label": "connective_tissue", - "count": 166, + "count": 172, "id": "UPHENO:0002712" }, { "label": "respiratory", - "count": 155, + "count": 158, "id": "UPHENO:0004536" }, { "label": "neoplasm", - "count": 153, + "count": 155, "id": "HP:0002664" }, { "label": "digestive_system", - "count": 147, + "count": 149, "id": "UPHENO:0002833" }, { @@ -88,12 +88,12 @@ }, { "label": "immune_system", - "count": 22, + "count": 23, "id": "UPHENO:0002948" }, { "label": "prenatal_or_birth", - "count": 21, + "count": 22, "id": "UPHENO:0075949" }, { diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json index df010ea58..82731b3a2 100644 --- a/frontend/fixtures/mappings.json +++ b/frontend/fixtures/mappings.json @@ -1,7 +1,7 @@ { "limit": 20, "offset": 0, - "total": 14, + "total": 8, "items": [ { "subject_id": "MONDO:0020121", @@ -10,7 +10,7 @@ "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e118a569-aef9-4406-a56e-26c0cce23832" + "id": "3eda4910-e721-4814-b2cd-0739f2eee579" }, { "subject_id": "MONDO:0020121", @@ -19,70 +19,16 @@ "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c019bafb-05f0-4e88-a872-213dc1cbadf8" + "id": "fd45bbd0-9de7-4d93-b491-3b582dfb003c" }, { "subject_id": "MONDO:0020121", "subject_label": "muscular dystrophy", "predicate_id": "skos:exactMatch", - "object_id": "NCIT:C84910", - "object_label": "Muscular Dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "409672f9-0244-46db-b53e-5a941daecf79" - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "Orphanet:98473", - "object_label": "Muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e03a2881-54f2-484a-927b-c90557ddf4fa" - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "SCTID:73297009", - "object_label": null, - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "25ff5a19-ae6b-4d3d-a57e-f8087f435cb7" - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "UMLS:C0026850", + "object_id": "MEDGEN:44527", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "9edb04c4-fcd6-4b0d-a2ea-b2812c3ae7d3" - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "MESH:D009136", - "object_label": null, - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "ca9265de-6da9-46b2-9d90-18b7fc56d874" - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "DOID:9884", - "object_label": "muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "5d822e16-51fe-4ab9-a15d-2319b883d96e" - }, - { - "subject_id": "MONDO:0020121", - "subject_label": "muscular dystrophy", - "predicate_id": "skos:exactMatch", - "object_id": "ICD10CM:G71.0", - "object_label": "Muscular dystrophy", - "mapping_justification": "semapv:UnspecifiedMatching", - "id": "9ed03b0f-bf8d-41be-b21e-5cd47203dc8a" + "id": "abafcd0b-fb7f-404a-8af3-98fba60c72bd" }, { "subject_id": "MONDO:0020121", @@ -91,7 +37,7 @@ "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c94c80d9-67cb-4c8c-9855-445c493e6b09" + "id": "7bd011ab-4a21-451d-9298-9f37ed755977" }, { "subject_id": "MONDO:0020121", @@ -100,7 +46,7 @@ "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "493dfdf8-e149-4287-9522-1f123af2428b" + "id": "8fde6a2a-f907-4f74-8b7c-6fcd6103ca19" }, { "subject_id": "MONDO:0020121", @@ -109,7 +55,7 @@ "object_id": "SCTID:73297009", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "223f9ee1-c176-4355-bc8f-22cec80116ea" + "id": "167879bf-ba1b-445c-afe7-e2db86cbe795" }, { "subject_id": "MONDO:0020121", @@ -118,7 +64,7 @@ "object_id": "UMLS:C0026850", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "d7d48a1f-1325-45d7-b9af-35f74f4e796f" + "id": "a9560c9f-0075-4117-895c-af85ef93ea46" }, { "subject_id": "MONDO:0020121", @@ -127,7 +73,7 @@ "object_id": "MESH:D009136", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "e10a82df-8a83-4ca4-8591-8c00c556c228" + "id": "e9965a94-a5fb-4f32-b803-dc757b045b5d" } ] } diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json index 59e8b0471..85bae5606 100644 --- a/frontend/fixtures/node.json +++ b/frontend/fixtures/node.json @@ -46,32 +46,8 @@ "url": "https://icd.codes/icd10cm/G71.0" }, { - "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": "ICD10CM:G71.0", - "url": "https://icd.codes/icd10cm/G71.0" + "id": "MEDGEN:44527", + "url": "http://identifiers.org/medgen/44527" }, { "id": "NCIT:C84910", @@ -155,7 +131,7 @@ "association_counts": [ { "label": "Phenotype to Disease", - "count": 3959, + "count": 4012, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -167,6 +143,16 @@ "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" } ], "node_hierarchy": { @@ -240,9 +226,9 @@ ], "sub_classes": [ { - "id": "MONDO:0010311", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, @@ -262,9 +248,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010675", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, @@ -284,9 +270,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, @@ -306,9 +292,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, @@ -328,9 +314,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -350,9 +336,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -372,9 +358,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0016106", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "muscular dystrophy, Barnes type", "full_name": null, "deprecated": null, "description": null, @@ -394,9 +380,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "progressive muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -416,9 +402,9 @@ "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, @@ -438,9 +424,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0023204", + "id": "MONDO:0019950", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "congenital muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -460,9 +446,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0100228", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": null, "deprecated": null, "description": null, @@ -482,9 +468,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0008028", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "LAMA2-related muscular dystrophy", "full_name": null, "deprecated": null, "description": null, diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json index 4cd43335f..1c4cfc932 100644 --- a/frontend/fixtures/phenotype-explorer-multi-compare.json +++ b/frontend/fixtures/phenotype-explorer-multi-compare.json @@ -25,54 +25,54 @@ "score": 8.60883472685004, "similarity": { "subject_termset": { - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "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:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux" }, + "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery" - }, - "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" } + } }, "object_termset": { - "MP:0003731": { - "id": "MP:0003731", - "label": "abnormal retina outer nuclear layer morphology" - }, - "MP:0011965": { - "id": "MP:0011965", - "label": "decreased total retina thickness" - }, "MP:0011960": { "id": "MP:0011960", "label": "abnormal eye anterior chamber depth" }, "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:0008489": { + "id": "MP:0008489", + "label": "slow postnatal weight gain" }, "MP:0003291": { "id": "MP:0003291", "label": "interstinal hyperperistalsis" }, - "MP:0008489": { - "id": "MP:0008489", - "label": "slow postnatal weight gain" - } + "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" + }, + "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" } }, "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, @@ -80,27 +80,27 @@ "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: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, "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:0008489", - "match_target_label": "slow postnatal weight gain", + "match_target": "MP:0011962", + "match_target_label": "increased cornea thickness", "score": 3.066606173373863, "match_subsumer": null, "match_subsumer_label": null, @@ -108,7 +108,7 @@ "subject_id": "HP:0001763", "subject_label": null, "subject_source": null, - "object_id": "MP:0008489", + "object_id": "MP:0011962", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0015280", @@ -117,10 +117,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 3.066606173373863, - "jaccard_similarity": 0.17567567567567569, + "jaccard_similarity": 0.16049382716049382, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.7339810021646689 + "phenodigm_score": 0.7015492578278222 }, "score_metric": "ancestor_information_content" }, @@ -211,8 +211,8 @@ "HP:0010749": { "match_source": "HP:0010749", "match_source_label": "Blepharochalasis", - "match_target": "MP:0011962", - "match_target_label": "increased cornea thickness", + "match_target": "MP:0011965", + "match_target_label": "decreased total retina thickness", "score": 6.6792078240173165, "match_subsumer": null, "match_subsumer_label": null, @@ -220,7 +220,7 @@ "subject_id": "HP:0010749", "subject_label": null, "subject_source": null, - "object_id": "MP:0011962", + "object_id": "MP:0011965", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0087924", @@ -229,10 +229,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 6.6792078240173165, - "jaccard_similarity": 0.25301204819277107, + "jaccard_similarity": 0.24324324324324326, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.2999692503516391 + "phenodigm_score": 1.2746262877446148 }, "score_metric": "ancestor_information_content" }, @@ -325,8 +325,8 @@ "MP:0003291": { "match_source": "MP:0003291", "match_source_label": "interstinal hyperperistalsis", - "match_target": "HP:0002020", - "match_target_label": "Gastroesophageal reflux", + "match_target": "HP:0012450", + "match_target_label": "Chronic constipation", "score": 9.97713534604573, "match_subsumer": null, "match_subsumer_label": null, @@ -334,7 +334,7 @@ "subject_id": "MP:0003291", "subject_label": null, "subject_source": null, - "object_id": "HP:0002020", + "object_id": "HP:0012450", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002443", @@ -343,10 +343,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 9.97713534604573, - "jaccard_similarity": 0.3684210526315789, + "jaccard_similarity": 0.4117647058823529, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.9172341292700534 + "phenodigm_score": 2.026877450985369 }, "score_metric": "ancestor_information_content" }, @@ -522,47 +522,27 @@ "score": 7.343905449061466, "similarity": { "subject_termset": { + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery" }, - "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, + "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux" } }, "object_termset": { - "MP:0000272": { - "id": "MP:0000272", - "label": "abnormal aorta morphology" - }, - "MP:0003070": { - "id": "MP:0003070", - "label": "increased vascular permeability" - }, - "MP:0000230": { - "id": "MP:0000230", - "label": "abnormal systemic arterial blood pressure" - }, - "MP:0003026": { - "id": "MP:0003026", - "label": "decreased vasoconstriction" - }, "MP:0004022": { "id": "MP:0004022", "label": "abnormal cone electrophysiology" }, - "MP:0009862": { - "id": "MP:0009862", - "label": "abnormal aorta elastic tissue morphology" - }, - "MP:0000233": { - "id": "MP:0000233", - "label": "abnormal blood flow velocity" - }, "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, + "MP:0003026": { + "id": "MP:0003026", + "label": "decreased vasoconstriction" + }, "MP:0004021": { "id": "MP:0004021", "label": "abnormal rod electrophysiology" @@ -570,6 +550,26 @@ "MP:0006264": { "id": "MP:0006264", "label": "decreased systemic arterial systolic blood pressure" + }, + "MP:0000230": { + "id": "MP:0000230", + "label": "abnormal systemic arterial blood pressure" + }, + "MP:0000233": { + "id": "MP:0000233", + "label": "abnormal blood flow velocity" + }, + "MP:0009862": { + "id": "MP:0009862", + "label": "abnormal aorta elastic tissue morphology" + }, + "MP:0003070": { + "id": "MP:0003070", + "label": "increased vascular permeability" + }, + "MP:0000272": { + "id": "MP:0000272", + "label": "abnormal aorta morphology" } }, "subject_best_matches": { @@ -588,8 +588,8 @@ "object_id": "MP:0002834", "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, @@ -632,8 +632,8 @@ "HP:0002020": { "match_source": "HP:0002020", "match_source_label": "Gastroesophageal reflux", - "match_target": "MP:0000233", - "match_target_label": "abnormal blood flow velocity", + "match_target": "MP:0000230", + "match_target_label": "abnormal systemic arterial blood pressure", "score": 5.132448071645384, "match_subsumer": null, "match_subsumer_label": null, @@ -641,7 +641,7 @@ "subject_id": "HP:0002020", "subject_label": null, "subject_source": null, - "object_id": "MP:0000233", + "object_id": "MP:0000230", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002332", @@ -650,18 +650,18 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 5.132448071645384, - "jaccard_similarity": 0.3157894736842105, + "jaccard_similarity": 0.35294117647058826, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.273095862555698 + "phenodigm_score": 1.3459020248817237 }, "score_metric": "ancestor_information_content" }, "HP:0002616": { "match_source": "HP:0002616", "match_source_label": "Aortic root aneurysm", - "match_target": "MP:0009862", - "match_target_label": "abnormal aorta elastic tissue morphology", + "match_target": "MP:0000272", + "match_target_label": "abnormal aorta morphology", "score": 9.580429669539143, "match_subsumer": null, "match_subsumer_label": null, @@ -669,7 +669,7 @@ "subject_id": "HP:0002616", "subject_label": null, "subject_source": null, - "object_id": "MP:0009862", + "object_id": "MP:0000272", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0076809", @@ -678,18 +678,18 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 9.580429669539143, - "jaccard_similarity": 0.32075471698113206, + "jaccard_similarity": 0.36363636363636365, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.7529883077792243 + "phenodigm_score": 1.8664920592129888 }, "score_metric": "ancestor_information_content" }, "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, @@ -697,7 +697,7 @@ "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", @@ -706,10 +706,10 @@ "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" }, @@ -744,8 +744,8 @@ "HP:0012450": { "match_source": "HP:0012450", "match_source_label": "Chronic constipation", - "match_target": "MP:0004022", - "match_target_label": "abnormal cone electrophysiology", + "match_target": "MP:0003070", + "match_target_label": "increased vascular permeability", "score": 5.132448071645384, "match_subsumer": null, "match_subsumer_label": null, @@ -753,7 +753,7 @@ "subject_id": "HP:0012450", "subject_label": null, "subject_source": null, - "object_id": "MP:0004022", + "object_id": "MP:0003070", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002332", @@ -762,10 +762,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 5.132448071645384, - "jaccard_similarity": 0.36363636363636365, + "jaccard_similarity": 0.2926829268292683, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.3661422888285077 + "phenodigm_score": 1.2256344982940082 }, "score_metric": "ancestor_information_content" } @@ -774,8 +774,8 @@ "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, @@ -783,7 +783,7 @@ "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", @@ -792,18 +792,18 @@ "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" }, "MP:0000233": { "match_source": "MP:0000233", "match_source_label": "abnormal blood flow velocity", - "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, @@ -811,7 +811,7 @@ "subject_id": "MP:0000233", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0002616", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0080362", @@ -820,10 +820,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.3467487024345575, - "jaccard_similarity": 0.18333333333333332, + "jaccard_similarity": 0.23404255319148937, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.160561902174834 + "phenodigm_score": 1.311278698055469 }, "score_metric": "ancestor_information_content" }, @@ -870,8 +870,8 @@ "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, @@ -886,8 +886,8 @@ "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, @@ -895,7 +895,7 @@ "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", @@ -904,10 +904,10 @@ "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" }, diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json index 7fda53bb4..b203ef702 100644 --- a/frontend/fixtures/phenotype-explorer-search.json +++ b/frontend/fixtures/phenotype-explorer-search.json @@ -31,60 +31,60 @@ "has_phenotype": ["ZP:0018569"], "has_phenotype_label": ["myeloid cell development absent, abnormal"], "has_phenotype_closure": [ - "GO:0061515", - "ZP:0014956", - "GO:0030099", - "GO:0030097", - "UPHENO:0001003", - "BFO:0000015", "UPHENO:0034024", - "BFO:0000020", "ZP:0018569", + "BFO:0000020", + "ZP:0014956", + "BFO:0000015", "BFO:0000001", "PATO:0000001", - "GO:0009987", - "UPHENO:0001005", - "GO:0048869", - "BFO:0000002", - "BFO:0000003", + "UPHENO:0001003", + "GO:0030097", "GO:0048856", - "UPHENO:0001001", + "GO:0030099", + "GO:0030154", "GO:0008150", "ZP:0131284", "UPHENO:0078513", - "GO:0030154", + "BFO:0000002", + "BFO:0000003", "GO:0032502", + "UPHENO:0001002", "ZP:00000000", "GO:0048468", - "UPHENO:0001002" + "UPHENO:0001005", + "GO:0048869", + "GO:0009987", + "GO:0061515", + "UPHENO:0001001" ], "has_phenotype_closure_label": [ - "developmental process", + "abnormal phenotype by ontology source", "myeloid cell development absent, abnormal", + "absent myeloid cell development", "myeloid cell differentiation", "hemopoiesis", - "anatomical structure development", "hemopoiesis quality, abnormal", - "quality", - "phenotype by ontology source", - "phenotype", - "abnormal phenotype by ontology source", - "cellular developmental process", - "specifically dependent continuant", + "cellular process", + "developmental process", + "process", "myeloid cell development", "entity", - "biological_process", - "continuant", + "specifically dependent continuant", + "cellular developmental process", + "anatomical structure development", + "cell differentiation", + "quality", "Phenotypic abnormality", - "occurrent", - "process", + "continuant", + "biological_process", "Zebrafish Phenotype", "biological_process quality, abnormal", "cell development", - "cell differentiation", - "absent biological_process", - "cellular process", - "absent myeloid cell development" + "phenotype", + "phenotype by ontology source", + "occurrent", + "absent biological_process" ], "has_phenotype_count": 1 }, @@ -218,84 +218,84 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-050208-773", "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:0061515", + "UPHENO:0078513", "GO:0007275", - "GO:0060215", - "GO:0048513", + "UPHENO:0034024", + "BFO:0000001", + "PATO:0000001", + "ZP:0018568", "GO:0009790", - "UPHENO:0001002", - "GO:0035162", - "ZP:00000000", - "UPHENO:0078513", - "GO:0008150", - "ZP:0131284", - "GO:0048856", - "GO:0032502", - "BFO:0000003", + "ZP:0018569", + "UPHENO:0001001", + "UPHENO:0001003", "UPHENO:0078511", "BFO:0000002", + "GO:0030099", + "GO:0048869", "UPHENO:0001005", - "GO:0048468", + "UPHENO:0001002", + "BFO:0000003", + "GO:0032502", + "GO:0048513", "GO:0030154", + "GO:0048468", "GO:0009987", - "PATO:0000001", - "BFO:0000001", - "ZP:0018568", - "UPHENO:0001001", - "ZP:0018569", - "BFO:0000020", - "UPHENO:0034024", + "GO:0060215", + "GO:0030097", + "GO:0032501", + "ZP:00000000", + "GO:0035162", + "GO:0048856", + "ZP:0131284", + "GO:0008150", "BFO:0000015", - "UPHENO:0001003", - "GO:0048869", - "GO:0030099", "GO:0048568", "ZP:0014956", - "GO:0061515", - "GO:0030097", - "GO:0032501" + "BFO:0000020" ], "has_phenotype_closure_label": [ - "embryonic hemopoiesis", - "multicellular organismal process", - "animal organ development", - "embryo development", + "myeloid cell development", "absent myeloid cell development", - "cellular process", + "myeloid cell differentiation", "absent biological_process", + "embryo development", + "specifically dependent continuant", + "cellular developmental process", + "animal organ development", + "entity", "cell development", - "embryonic organ development", - "biological_process quality, abnormal", - "process", + "biological_process", + "multicellular organismal process", + "continuant", "Zebrafish Phenotype", "Phenotypic abnormality", - "continuant", - "biological_process", - "entity", - "myeloid cell development", - "specifically dependent continuant", - "cellular developmental process", - "cell differentiation", - "absent primitive hemopoiesis", - "abnormal phenotype by ontology source", + "quality", + "phenotype", "occurrent", "phenotype by ontology source", - "phenotype", - "quality", - "hemopoiesis quality, abnormal", + "abnormal phenotype by ontology source", + "absent primitive hemopoiesis", + "cell differentiation", "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "hemopoiesis", - "myeloid cell differentiation", + "process", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis", + "biological_process quality, abnormal", + "embryonic organ development", "developmental process", + "cellular process", + "hemopoiesis quality, abnormal", "multicellular organism development", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis" + "hemopoiesis", + "embryonic hemopoiesis" ], "has_phenotype_count": 2 }, @@ -405,8 +405,8 @@ "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue", - "match_target": "ZP:0018569", - "match_target_label": "myeloid cell development absent, abnormal", + "match_target": "ZP:0018568", + "match_target_label": "primitive hemopoiesis absent, abnormal", "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, @@ -414,7 +414,7 @@ "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018569", + "object_id": "ZP:0018568", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -467,76 +467,76 @@ "has_phenotype_closure": [ "GO:0061515", "UPHENO:0078513", + "GO:0007275", + "UPHENO:0034024", + "BFO:0000001", + "PATO:0000001", + "ZP:0018568", "GO:0009790", "ZP:0018569", "UPHENO:0001001", - "GO:0008150", - "ZP:0131284", - "GO:0048856", - "GO:0060215", - "BFO:0000001", - "ZP:0018568", - "PATO:0000001", - "GO:0032502", - "BFO:0000003", + "UPHENO:0001003", "UPHENO:0078511", "BFO:0000002", "GO:0030099", "GO:0048869", "UPHENO:0001005", + "UPHENO:0001002", + "BFO:0000003", + "GO:0032502", "GO:0048513", - "UPHENO:0001003", - "GO:0032501", + "GO:0030154", + "GO:0048468", + "GO:0009987", + "GO:0060215", "GO:0030097", - "UPHENO:0001002", - "GO:0035162", + "GO:0032501", "ZP:00000000", - "GO:0009987", - "GO:0048468", - "GO:0030154", - "BFO:0000020", - "GO:0007275", - "UPHENO:0034024", + "GO:0035162", + "GO:0048856", + "ZP:0131284", + "GO:0008150", "BFO:0000015", "GO:0048568", - "ZP:0014956" + "ZP:0014956", + "BFO:0000020" ], "has_phenotype_closure_label": [ "myeloid cell development", - "myeloid cell differentiation", "absent myeloid cell development", - "embryonic hemopoiesis", - "developmental process", + "myeloid cell differentiation", "absent biological_process", "embryo development", + "specifically dependent continuant", + "cellular developmental process", "animal organ development", "entity", "cell development", - "continuant", "biological_process", "multicellular organismal process", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis", - "biological_process quality, abnormal", - "embryonic organ development", - "process", - "multicellular organism development", + "continuant", "Zebrafish Phenotype", "Phenotypic abnormality", - "cellular process", - "specifically dependent continuant", - "cellular developmental process", - "cell differentiation", - "absent primitive hemopoiesis", - "abnormal phenotype by ontology source", + "quality", + "phenotype", "occurrent", "phenotype by ontology source", - "phenotype", - "quality", - "hemopoiesis quality, abnormal", + "abnormal phenotype by ontology source", + "absent primitive hemopoiesis", + "cell differentiation", "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "hemopoiesis" + "process", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis", + "biological_process quality, abnormal", + "embryonic organ development", + "developmental process", + "cellular process", + "hemopoiesis quality, abnormal", + "multicellular organism development", + "hemopoiesis", + "embryonic hemopoiesis" ], "has_phenotype_count": 2 }, @@ -618,8 +618,8 @@ "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 +627,7 @@ "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", @@ -707,84 +707,84 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-121214-344", "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", - "UPHENO:0078513", - "GO:0009790", - "ZP:0018569", - "UPHENO:0001001", - "GO:0008150", - "ZP:0131284", - "GO:0048856", + "GO:0007275", "GO:0060215", - "BFO:0000001", "ZP:0018568", - "PATO:0000001", + "GO:0048513", + "GO:0009790", + "GO:0061515", + "UPHENO:0001005", + "GO:0035162", + "ZP:00000000", + "UPHENO:0001002", "GO:0032502", "BFO:0000003", "UPHENO:0078511", "BFO:0000002", - "GO:0030099", - "GO:0048869", - "UPHENO:0001005", - "GO:0048513", - "UPHENO:0001003", - "GO:0032501", - "GO:0030097", - "UPHENO:0001002", - "GO:0035162", - "ZP:00000000", + "UPHENO:0078513", + "GO:0008150", "GO:0009987", "GO:0048468", "GO:0030154", + "GO:0048869", + "GO:0030099", + "ZP:0131284", + "GO:0048856", + "GO:0032501", + "GO:0030097", + "UPHENO:0001003", + "PATO:0000001", + "BFO:0000001", + "BFO:0000015", "BFO:0000020", - "GO:0007275", + "UPHENO:0001001", + "ZP:0018569", "UPHENO:0034024", - "BFO:0000015", - "GO:0048568", - "ZP:0014956" + "ZP:0014956", + "GO:0048568" ], "has_phenotype_closure_label": [ - "myeloid cell development", - "myeloid cell differentiation", - "absent myeloid cell development", "embryonic hemopoiesis", - "developmental process", + "multicellular organism development", + "multicellular organismal process", "absent biological_process", "embryo development", - "animal organ development", - "entity", + "occurrent", + "phenotype by ontology source", "cell development", - "continuant", - "biological_process", - "multicellular organismal process", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis", - "biological_process quality, abnormal", "embryonic organ development", - "process", - "multicellular organism development", + "biological_process quality, abnormal", + "biological_process", + "continuant", "Zebrafish Phenotype", "Phenotypic abnormality", - "cellular process", - "specifically dependent continuant", - "cellular developmental process", - "cell differentiation", - "absent primitive hemopoiesis", - "abnormal phenotype by ontology source", - "occurrent", - "phenotype by ontology source", "phenotype", "quality", - "hemopoiesis quality, abnormal", "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "hemopoiesis" + "cellular developmental process", + "specifically dependent continuant", + "entity", + "myeloid cell development", + "animal organ development", + "process", + "developmental process", + "cellular process", + "hemopoiesis quality, abnormal", + "hemopoiesis", + "myeloid cell differentiation", + "absent myeloid cell development", + "absent primitive hemopoiesis", + "cell differentiation", + "abnormal phenotype by ontology source", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis" ], "has_phenotype_count": 2 }, @@ -801,8 +801,8 @@ } }, "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": { @@ -866,8 +866,8 @@ "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, @@ -875,7 +875,7 @@ "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", @@ -963,74 +963,74 @@ "has_phenotype_closure": [ "GO:0007275", "GO:0060215", + "ZP:0018568", "GO:0048513", "GO:0009790", - "UPHENO:0001002", + "GO:0061515", + "UPHENO:0001005", "GO:0035162", "ZP:00000000", - "UPHENO:0078513", - "GO:0008150", - "ZP:0131284", - "GO:0048856", + "UPHENO:0001002", "GO:0032502", "BFO:0000003", "UPHENO:0078511", "BFO:0000002", - "UPHENO:0001005", + "UPHENO:0078513", + "GO:0008150", + "GO:0009987", "GO:0048468", "GO:0030154", - "GO:0009987", + "GO:0048869", + "GO:0030099", + "ZP:0131284", + "GO:0048856", + "GO:0032501", + "GO:0030097", + "UPHENO:0001003", "PATO:0000001", "BFO:0000001", - "ZP:0018568", + "BFO:0000015", + "BFO:0000020", "UPHENO:0001001", "ZP:0018569", - "BFO:0000020", "UPHENO:0034024", - "BFO:0000015", - "UPHENO:0001003", - "GO:0048869", - "GO:0030099", - "GO:0048568", "ZP:0014956", - "GO:0061515", - "GO:0030097", - "GO:0032501" + "GO:0048568" ], "has_phenotype_closure_label": [ "embryonic hemopoiesis", + "multicellular organism development", "multicellular organismal process", - "animal organ development", - "embryo development", - "absent myeloid cell development", - "cellular process", "absent biological_process", + "embryo development", + "occurrent", + "phenotype by ontology source", "cell development", "embryonic organ development", "biological_process quality, abnormal", - "process", + "biological_process", + "continuant", "Zebrafish Phenotype", "Phenotypic abnormality", - "continuant", - "biological_process", - "entity", - "myeloid cell development", - "specifically dependent continuant", - "cellular developmental process", - "cell differentiation", - "absent primitive hemopoiesis", - "abnormal phenotype by ontology source", - "occurrent", - "phenotype by ontology source", "phenotype", "quality", - "hemopoiesis quality, abnormal", "primitive hemopoiesis absent, abnormal", "anatomical structure development", + "cellular developmental process", + "specifically dependent continuant", + "entity", + "myeloid cell development", + "animal organ development", + "process", + "developmental process", + "cellular process", + "hemopoiesis quality, abnormal", "hemopoiesis", "myeloid cell differentiation", - "developmental process", - "multicellular organism development", + "absent myeloid cell development", + "absent primitive hemopoiesis", + "cell differentiation", + "abnormal phenotype by ontology source", "myeloid cell development absent, abnormal", "primitive hemopoiesis" ], @@ -1049,8 +1049,8 @@ } }, "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:0018568": { @@ -1190,159 +1190,159 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-070117-2249", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0000945", "ZP:0100294"], + "has_phenotype": ["ZP:0100294", "ZP:0000945"], "has_phenotype_label": [ - "pigment cell quality, abnormal", - "visual perception absent, abnormal" + "visual perception absent, abnormal", + "pigment cell quality, abnormal" ], "has_phenotype_closure": [ - "GO:0050953", - "BFO:0000015", + "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", + "BFO:0000015", + "UPHENO:0001005", + "NCBITaxon:117571", + "NCBITaxon:2759", + "UBERON:0001062", + "ZFA:0100000", + "GO:0050953", + "NCBITaxon:7742", + "BFO:0000002", + "UBERON:0000465", + "GO:0003008", + "NCBITaxon:33208", + "ZP:00000000", + "NCBITaxon:1489341", + "NCBITaxon:7711", + "UPHENO:0078456", + "CL:0000325", + "ZP:0001840", + "NCBITaxon:33511", + "GO:0032501", "GO:0007601", + "UPHENO:0001001", + "BFO:0000004", + "NCBITaxon:30727", "GO:0050877", + "UPHENO:0001002", + "ZP:0100294", + "UBERON:0000468", "GO:0007600", "ZP:0131284", - "GO:0032501", - "ZFA:0001094", - "ZP:0100294", - "UPHENO:0001002", - "ZP:0107311", - "UPHENO:0002536", - "ZP:0107296", "BFO:0000001", - "UPHENO:0001001", - "BFO:0000002", - "NCBITaxon:186623", - "NCBITaxon:89593", - "UBERON:0001062", - "NCBITaxon:2759", - "NCBITaxon:186634", - "ZFA:0009090", - "NCBITaxon:6072", - "ZFA:0100000", - "ZP:0000945", + "ZP:0107296", "PATO:0000001", - "UBERON:0000468", + "ZFA:0001094", + "CL:0000147", + "NCBITaxon:7776", "GO:0008150", "NCBITaxon:1", - "UPHENO:0078456", - "CL:0000325", - "ZP:0001840", - "NCBITaxon:33511", - "ZP:0107301", "ZP:0100009", - "NCBITaxon:7742", - "NCBITaxon:41665", - "UPHENO:0001003", + "ZP:0107301", "ZFA:0000037", - "OBI:0100026", - "NCBITaxon:117571", - "UPHENO:0001005", - "CL:0000147", - "NCBITaxon:7776", - "NCBITaxon:7954", - "ZP:00000000", - "UBERON:0000061", - "NCBITaxon:7952", - "NCBITaxon:32519", - "ZFA:0009000", - "UBERON:0010000", - "NCBITaxon:7711", - "NCBITaxon:1489341", - "BFO:0000020", - "BFO:0000003", - "NCBITaxon:7898", - "NCBITaxon:117570", "CL:0000000", "NCBITaxon:186627", - "NCBITaxon:186626", - "NCBITaxon:131567", + "NCBITaxon:7898", + "BFO:0000003", + "NCBITaxon:117570", + "NCBITaxon:89593", + "NCBITaxon:186623", + "UPHENO:0001003", + "NCBITaxon:41665", "NCBITaxon:2743711", - "BFO:0000040", "NCBITaxon:33154", - "GO:0003008", - "NCBITaxon:33208", - "UBERON:0000465", - "NCBITaxon:32443", + "BFO:0000040", + "ZFA:0009000", + "UBERON:0010000", + "UBERON:0000061", + "NCBITaxon:7952", "NCBITaxon:33213", - "BFO:0000004", - "NCBITaxon:30727", - "NCBITaxon:186625", - "NCBITaxon:2743709" + "NCBITaxon:32443", + "UPHENO:0002536", + "NCBITaxon:131567" ], "has_phenotype_closure_label": [ - "sensory perception", - "absent visual perception", - "visual perception quality, abnormal", - "nervous system process", - "process", - "biological_process quality, abnormal", - "visual perception", + "Bilateria", + "anatomical entity", + "Cyprinoidei", + "Cypriniformes", + "Eumetazoa", "zebrafish anatomical entity", - "Otomorpha", - "Gnathostomata ", - "phenotype", - "occurrent", - "abnormal anatomical entity", - "anatomical structure quality, abnormal", - "specifically dependent continuant", - "Neopterygii", - "cell quality, abnormal", + "Chordata", + "phenotype by ontology source", + "whole organism", "pigment cell quality, abnormal", - "quality", + "process", + "entity", "root", - "Actinopteri", - "zebrafish anatomical entity quality, abnormal", - "independent continuant", + "quality", + "phenotype", + "Gnathostomata ", + "Otomorpha", + "visual perception quality, abnormal", + "sensory perception", "Phenotypic abnormality", - "Cypriniformes", - "sensory perception of light stimulus", - "Danioninae", - "Craniata ", - "Cypriniphysae", - "cell", - "Chordata", - "Eumetazoa", - "phenotype by ontology source", - "whole organism quality, abnormal", - "absent biological_process", - "Vertebrata ", - "Teleostei", - "Actinopterygii", - "Ostariophysi", - "multicellular anatomical structure", - "pigment cell", - "Cyprinoidei", - "anatomical entity", + "anatomical structure", + "system process", + "continuant", + "absent visual perception", "Osteoglossocephalai", - "cellular organisms", + "pigment cell", + "multicellular anatomical structure", + "visual perception", + "biological_process", + "cell quality, abnormal", + "Neopterygii", + "nervous system process", + "specifically dependent continuant", "Deuterostomia", "Opisthokonta", - "Euteleostomi", - "entity", + "cellular organisms", + "cell", + "Cypriniphysae", "abnormal phenotype by ontology source", "Metazoa", "Clupeocephala", + "Danioninae", + "sensory perception of light stimulus", + "anatomical structure quality, abnormal", + "occurrent", + "abnormal anatomical entity", + "biological_process quality, abnormal", + "Craniata ", + "absent biological_process", + "Vertebrata ", + "Ostariophysi", "multicellular organism", - "Teleostomi", "material entity", - "anatomical structure", + "Teleostomi", + "Euteleostomi", "multicellular organismal process", "Danionidae", - "whole organism", - "stuff accumulating cell", - "Danio", - "Otophysi", - "Eukaryota", - "Bilateria", + "whole organism quality, abnormal", + "independent continuant", + "zebrafish anatomical entity quality, abnormal", "visual perception absent, abnormal", "organism", "Zebrafish Phenotype", "material anatomical entity", - "continuant", - "system process", - "biological_process" + "Actinopterygii", + "Teleostei", + "Actinopteri", + "Eukaryota", + "Danio", + "stuff accumulating cell", + "Otophysi" ], "has_phenotype_count": 2 }, @@ -1359,8 +1359,8 @@ } }, "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:0000945": { @@ -1452,8 +1452,8 @@ "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 +1461,7 @@ "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 +1470,10 @@ "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" } @@ -1500,93 +1500,93 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-070117-1530", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0015039", "ZP:0001841"], + "has_phenotype": ["ZP:0001841", "ZP:0015039"], "has_phenotype_label": [ - "visual behavior absent, abnormal", - "visual behavior quality, abnormal" + "visual behavior quality, abnormal", + "visual behavior absent, abnormal" ], "has_phenotype_closure": [ - "GO:0009416", - "UPHENO:0001003", + "GO:0009628", "ZP:0015039", "UPHENO:0034024", - "GO:0009628", - "BFO:0000020", + "GO:0007632", + "BFO:0000015", + "UPHENO:0078496", + "GO:0050896", + "BFO:0000002", "UPHENO:0001005", + "GO:0009416", + "UPHENO:0001003", "ZP:00000000", "UPHENO:0001002", - "BFO:0000002", - "GO:0050896", - "GO:0032501", - "ZP:0005465", - "BFO:0000003", - "ZP:0001669", - "BFO:0000015", - "UPHENO:0078496", - "GO:0007610", - "UPHENO:0034056", - "PATO:0000001", - "BFO:0000001", "GO:0009314", "UPHENO:0001001", + "BFO:0000020", "GO:0008150", "ZP:0131284", + "GO:0007610", + "UPHENO:0034056", + "PATO:0000001", + "BFO:0000001", "ZP:0001841", - "GO:0007632" + "GO:0032501", + "ZP:0005465", + "BFO:0000003", + "ZP:0001669" ], "has_phenotype_closure_label": [ "response to light stimulus", - "quality", - "behavior quality, abnormal", - "response to light stimulus quality, abnormal", - "phenotype by ontology source", - "phenotype", - "visual behavior quality, abnormal", - "abnormal phenotype by ontology source", - "absent behavior", - "occurrent", "response to abiotic stimulus", - "specifically dependent continuant", + "behavior", + "response to stimulus", + "process", + "absent biological_process", + "occurrent", + "absent behavior", + "response to radiation", + "visual behavior", "absent visual behavior", "visual behavior absent, abnormal", - "continuant", + "specifically dependent continuant", + "entity", + "quality", + "response to light stimulus quality, abnormal", + "Phenotypic abnormality", "multicellular organismal process", "biological_process", - "biological_process quality, abnormal", + "continuant", "Zebrafish Phenotype", - "process", - "visual behavior", - "response to radiation", - "absent biological_process", - "behavior", - "response to stimulus", - "entity", - "Phenotypic abnormality" + "biological_process quality, abnormal", + "phenotype", + "visual behavior quality, abnormal", + "phenotype by ontology source", + "abnormal phenotype by ontology source", + "behavior quality, abnormal" ], "has_phenotype_count": 2 }, "score": 5.232933902289122, "similarity": { "subject_termset": { - "ZP:0015039": { - "id": "ZP:0015039", - "label": "visual behavior absent, abnormal" - }, "ZP:0001841": { "id": "ZP:0001841", "label": "visual behavior quality, abnormal" + }, + "ZP:0015039": { + "id": "ZP:0015039", + "label": "visual behavior 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: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 +1594,7 @@ "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 +1603,10 @@ "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" }, @@ -1671,8 +1671,8 @@ "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue", - "match_target": "ZP:0015039", - "match_target_label": "visual behavior absent, abnormal", + "match_target": "ZP:0001841", + "match_target_label": "visual behavior quality, abnormal", "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, @@ -1680,7 +1680,7 @@ "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0015039", + "object_id": "ZP:0001841", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -1689,10 +1689,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.6752927740139332, - "jaccard_similarity": 0.38095238095238093, + "jaccard_similarity": 0.47058823529411764, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.7988784457305923 + "phenodigm_score": 0.8879037504843663 }, "score_metric": "ancestor_information_content" } @@ -1728,197 +1728,197 @@ "has_phenotype": ["ZP:0005756"], "has_phenotype_label": ["pharyngeal arch non-functional, abnormal"], "has_phenotype_closure": [ - "OBI:0100026", - "UPHENO:0002833", - "ZP:0107569", - "ZP:00000000", - "UBERON:0008816", - "NCBITaxon:6072", + "UBERON:0000475", "UPHENO:0075696", - "UBERON:0007811", - "UBERON:0013702", - "NCBITaxon:2759", - "NCBITaxon:7954", - "UBERON:0000033", - "UBERON:0010314", - "BFO:0000020", - "UBERON:0010000", - "UBERON:0009145", - "NCBITaxon:131567", - "ZP:0107344", + "UBERON:0008814", + "UBERON:0000922", + "UBERON:0000025", "UPHENO:0086128", - "NCBITaxon:186626", - "NCBITaxon:32519", - "UBERON:0001041", - "UBERON:0002539", - "UPHENO:0001005", + "UBERON:0008816", + "NCBITaxon:6072", + "UPHENO:0002332", + "UPHENO:0002833", + "ZP:0107569", "NCBITaxon:2743709", "NCBITaxon:186625", - "ZP:0005756", - "ZFA:0000037", - "NCBITaxon:7776", - "UBERON:0000922", - "UBERON:0010188", - "UBERON:0000475", - "NCBITaxon:7742", + "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", - "ZFA:0001488", - "ZP:0107301", - "ZP:0100009", - "NCBITaxon:33511", + "NCBITaxon:7742", "UBERON:0013701", "UBERON:0000062", "UBERON:0001555", - "BFO:0000002", - "NCBITaxon:186623", - "NCBITaxon:89593", - "UPHENO:0002764", - "UBERON:0000061", - "NCBITaxon:7952", - "UBERON:0011676", + "UBERON:0002539", + "NCBITaxon:2759", "UBERON:0000467", "UBERON:0001062", - "NCBITaxon:30727", - "BFO:0000004", - "UPHENO:0002844", + "NCBITaxon:7776", "UBERON:0013522", "ZP:0000395", "UBERON:0001007", - "ZFA:0001114", - "UBERON:0034944", + "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", "NCBITaxon:1", - "UPHENO:0001003", + "ZP:0100009", + "ZP:0107301", + "UBERON:0007811", + "NCBITaxon:33511", + "ZP:00000000", "NCBITaxon:41665", - "UPHENO:0002332", - "UBERON:0004921", - "PATO:0000001", - "ZFA:0001094", - "UBERON:0000064", - "BFO:0000001", + "UPHENO:0001003", + "NCBITaxon:32443", + "NCBITaxon:33213", "UBERON:0004111", "UBERON:0000468", - "UBERON:0000481", - "UPHENO:0001001", "NCBITaxon:117571", - "NCBITaxon:186627", - "NCBITaxon:117570", - "NCBITaxon:7898", - "ZFA:0100000", - "ZP:0107307", - "NCBITaxon:33213", - "NCBITaxon:32443", - "ZFA:0001306", - "UPHENO:0002536", - "NCBITaxon:186634", - "UBERON:0005423", - "ZP:0107311", - "UBERON:0000025", - "UBERON:0008814", - "UBERON:0000465", - "NCBITaxon:33208", + "ZFA:0001094", + "UBERON:0010188", + "PATO:0000001", + "UBERON:0004921", + "UBERON:0034944", + "ZFA:0001114", "UPHENO:0001002", - "ZP:0000598", - "NCBITaxon:33154", + "BFO:0000001", "NCBITaxon:2743711", "BFO:0000040", + "NCBITaxon:33154", "UBERON:0000153", "ZFA:0001308", - "UBERON:0034921", + "ZFA:0001488", + "UBERON:0001041", + "NCBITaxon:186627", + "NCBITaxon:117570", + "NCBITaxon:7898", + "BFO:0000002", + "ZP:0107344", + "UBERON:0009145", + "NCBITaxon:131567", "NCBITaxon:7711", - "NCBITaxon:1489341" + "UBERON:0034921", + "NCBITaxon:1489341", + "UPHENO:0002536", + "ZFA:0001306", + "NCBITaxon:89593", + "NCBITaxon:186623" ], "has_phenotype_closure_label": [ - "Danioninae", - "abnormal digestive system", - "pharyngeal arch quality, abnormal", "Bilateria", - "Eukaryota", + "whole organism", + "anatomical entity", + "abnormal phenotype by ontology source", + "Cypriniformes", + "Danioninae", + "Eumetazoa", + "zebrafish anatomical entity", + "multi-tissue structure quality, abnormal", "Danio", "Otophysi", - "protuberance", - "digestive tract", - "root", - "quality", - "phenotype by ontology source", - "Danionidae", - "Cyprinoidei", "pharyngeal arch system", - "anatomical system", - "organism", - "organ", - "phenotype", - "Cypriniformes", - "Eumetazoa", + "Eukaryota", + "phenotype by ontology source", + "abnormal digestive system", + "pharyngeal arch quality, abnormal", + "Otomorpha", + "protuberance", + "structure with developmental contribution from neural crest", + "whole organism quality, abnormal", + "embryonic head", + "organism subdivision", + "multicellular organism", + "subdivision of digestive tract", + "anatomical conduit", + "specifically dependent continuant", + "anatomical structure", + "subdivision of tube", "Vertebrata ", - "abnormal craniocervical region", - "subdivision of organism along main body axis", - "Neopterygii", - "anterior region of body", "Euteleostomi", + "abnormal anatomical entity", "Ostariophysi", "organ part", - "pharyngeal arch physical object quality, abnormal", "zone of organ", - "embryonic head", - "organism subdivision", - "Phenotypic abnormality", + "pharyngeal arch physical object quality, abnormal", + "entity", + "body proper", "digestive system", + "anatomical system", + "organ", + "organism", "multi organ part structure", - "entity", - "abnormal head", - "subdivision of tube", - "anatomical structure", - "non-functional anatomical entity", - "multicellular anatomical structure", - "anatomical entity", + "Phenotypic abnormality", + "material anatomical entity", + "Zebrafish Phenotype", + "root", + "quality", + "phenotype", "Gnathostomata ", - "Otomorpha", - "continuant", - "Osteoglossocephalai", - "material entity", + "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", - "pharyngeal arch", - "Chordata", "Actinopteri", - "head", - "pharyngeal region of foregut", - "multi-tissue structure quality, abnormal", - "specifically dependent continuant", - "Opisthokonta", - "organism subdivision quality, abnormal", - "Deuterostomia", - "pharyngeal arch non-functional, abnormal", - "cellular organisms", - "subdivision of digestive tract", - "anatomical conduit", - "head quality, abnormal", - "developing anatomical structure", - "body proper", - "abnormal phenotype by ontology source", - "tube", - "multi-tissue structure", - "Metazoa", - "Clupeocephala", - "foregut", + "non-functional anatomical entity", + "multicellular anatomical structure", + "Cyprinoidei", "craniocervical region", + "foregut", + "independent continuant", + "zebrafish anatomical entity quality, abnormal", + "Danionidae", "anatomical structure quality, abnormal", "abnormality of anatomical entity physiology", + "digestive tract", "embryo", "Actinopterygii", "Teleostei", - "whole organism quality, abnormal", - "structure with developmental contribution from neural crest", - "abnormal anatomical entity", - "independent continuant", - "zebrafish anatomical entity quality, abnormal", - "Zebrafish Phenotype", - "material anatomical entity", - "zebrafish anatomical entity", - "multicellular organism", - "whole organism" + "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" ], "has_phenotype_count": 1 }, @@ -1931,8 +1931,8 @@ } }, "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:0005756": { @@ -2054,123 +2054,123 @@ "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:33154", - "UBERON:0000465", "NCBITaxon:2743709", "NCBITaxon:30727", - "BFO:0000004", - "NCBITaxon:6072", "UPHENO:0075696", - "ZP:00000000", - "NCBITaxon:7954", - "NCBITaxon:33213", - "NCBITaxon:131567", - "UBERON:0010000", - "NCBITaxon:186626", - "NCBITaxon:186627", - "BFO:0000020", + "NCBITaxon:6072", "NCBITaxon:186625", - "NCBITaxon:1489341", - "NCBITaxon:41665", - "NCBITaxon:7776", - "NCBITaxon:117570", - "UPHENO:0001005", - "NCBITaxon:117571", - "UPHENO:0020584", "ZP:0013613", - "BFO:0000040", - "NCBITaxon:32519", - "OBI:0100026", - "ZFA:0000037", - "UPHENO:0001003", - "ZP:0100009", - "NCBITaxon:33511", + "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:0107301", - "NCBITaxon:1", + "ZP:0100009", + "NCBITaxon:33511", "UBERON:0000468", - "ZFA:0001094", - "PATO:0000001", - "BFO:0000001", - "ZFA:0100000", - "UPHENO:0001001", - "NCBITaxon:2759", - "UBERON:0001062", - "NCBITaxon:89593", + "NCBITaxon:33208", + "UPHENO:0001002", + "NCBITaxon:7954", + "ZP:00000000", + "UPHENO:0001003", "BFO:0000002", "UBERON:0000061", - "UPHENO:0015280", - "NCBITaxon:7742", - "UPHENO:0076692", - "NCBITaxon:186623", - "NCBITaxon:7898", - "NCBITaxon:7952", + "ZFA:0100000", + "NCBITaxon:7776", + "ZP:0107311", "NCBITaxon:32443", + "NCBITaxon:7952", "ZP:0001432", - "ZP:0107311", - "UPHENO:0002536", - "NCBITaxon:186634", - "UPHENO:0001002", - "NCBITaxon:33208" + "UBERON:0000465", + "NCBITaxon:33154", + "NCBITaxon:33213", + "NCBITaxon:1", + "ZP:0107301", + "OBI:0100026", + "ZFA:0000037", + "NCBITaxon:117570", + "UPHENO:0001005", + "NCBITaxon:117571", + "ZFA:0001094", + "PATO:0000001", + "UPHENO:0076692", + "NCBITaxon:7742", + "UPHENO:0015280", + "NCBITaxon:41665", + "NCBITaxon:32519", + "BFO:0000040", + "NCBITaxon:89593", + "NCBITaxon:2759", + "UBERON:0001062" ], "has_phenotype_closure_label": [ - "material anatomical entity", - "organism", "Bilateria", - "Eukaryota", - "root", - "Otophysi", - "whole organism", - "Danio", - "Danionidae", - "anatomical structure", "material entity", - "whole organism physical object quality, abnormal", - "multicellular organism", - "Clupeocephala", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology", - "Actinopterygii", - "Ostariophysi", - "Vertebrata ", - "whole organism quality, abnormal", "anatomical entity", "Deuterostomia", - "Cyprinoidei", - "multicellular anatomical structure", + "zebrafish anatomical entity", + "Otophysi", + "Eukaryota", + "whole organism quality, abnormal", + "independent continuant", + "Actinopteri", + "Neopterygii", + "whole organism physical object quality, abnormal", + "Teleostomi", + "multicellular organism", "Opisthokonta", - "abnormal anatomical entity morphology in the independent continuant", - "Osteoglossocephalai", "continuant", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "phenotype by ontology source", + "Osteoglossocephalai", + "abnormal anatomical entity morphology in the independent continuant", + "Euteleostomi", + "Ostariophysi", + "Actinopterygii", + "Vertebrata ", + "abnormal anatomical entity morphology", + "Craniata ", "Eumetazoa", + "phenotype by ontology source", "Chordata", - "Craniata ", - "Danioninae", + "whole organism", "Cypriniformes", + "Danioninae", "Teleostei", - "Euteleostomi", + "anatomical structure", + "root", + "whole organism morphology, abnormal", + "zebrafish anatomical entity quality, abnormal", "entity", - "Teleostomi", - "independent continuant", - "Actinopteri", - "Neopterygii", "Cypriniphysae", - "specifically dependent continuant", "cellular organisms", + "specifically dependent continuant", "anatomical structure quality, abnormal", "abnormal anatomical entity", - "quality", - "Metazoa", + "multicellular anatomical structure", + "Cyprinoidei", + "Danio", + "Danionidae", + "material anatomical entity", "phenotype", - "Gnathostomata ", "Otomorpha", - "whole organism morphology, abnormal", - "zebrafish anatomical entity quality, abnormal", - "zebrafish anatomical entity" + "quality", + "Gnathostomata ", + "Metazoa", + "abnormal phenotype by ontology source", + "Clupeocephala", + "Zebrafish Phenotype", + "Phenotypic abnormality", + "organism" ], "has_phenotype_count": 1 }, @@ -2306,123 +2306,123 @@ "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:33154", - "UBERON:0000465", "NCBITaxon:2743709", "NCBITaxon:30727", - "BFO:0000004", - "NCBITaxon:6072", "UPHENO:0075696", - "ZP:00000000", - "NCBITaxon:7954", - "NCBITaxon:33213", - "NCBITaxon:131567", - "UBERON:0010000", - "NCBITaxon:186626", - "NCBITaxon:186627", - "BFO:0000020", + "NCBITaxon:6072", "NCBITaxon:186625", - "NCBITaxon:1489341", - "NCBITaxon:41665", - "NCBITaxon:7776", - "NCBITaxon:117570", - "UPHENO:0001005", - "NCBITaxon:117571", - "UPHENO:0020584", "ZP:0013613", - "BFO:0000040", - "NCBITaxon:32519", - "OBI:0100026", - "ZFA:0000037", - "UPHENO:0001003", - "ZP:0100009", - "NCBITaxon:33511", + "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:0107301", - "NCBITaxon:1", + "ZP:0100009", + "NCBITaxon:33511", "UBERON:0000468", - "ZFA:0001094", - "PATO:0000001", - "BFO:0000001", - "ZFA:0100000", - "UPHENO:0001001", - "NCBITaxon:2759", - "UBERON:0001062", - "NCBITaxon:89593", + "NCBITaxon:33208", + "UPHENO:0001002", + "NCBITaxon:7954", + "ZP:00000000", + "UPHENO:0001003", "BFO:0000002", "UBERON:0000061", - "UPHENO:0015280", - "NCBITaxon:7742", - "UPHENO:0076692", - "NCBITaxon:186623", - "NCBITaxon:7898", - "NCBITaxon:7952", + "ZFA:0100000", + "NCBITaxon:7776", + "ZP:0107311", "NCBITaxon:32443", + "NCBITaxon:7952", "ZP:0001432", - "ZP:0107311", - "UPHENO:0002536", - "NCBITaxon:186634", - "UPHENO:0001002", - "NCBITaxon:33208" + "UBERON:0000465", + "NCBITaxon:33154", + "NCBITaxon:33213", + "NCBITaxon:1", + "ZP:0107301", + "OBI:0100026", + "ZFA:0000037", + "NCBITaxon:117570", + "UPHENO:0001005", + "NCBITaxon:117571", + "ZFA:0001094", + "PATO:0000001", + "UPHENO:0076692", + "NCBITaxon:7742", + "UPHENO:0015280", + "NCBITaxon:41665", + "NCBITaxon:32519", + "BFO:0000040", + "NCBITaxon:89593", + "NCBITaxon:2759", + "UBERON:0001062" ], "has_phenotype_closure_label": [ - "material anatomical entity", - "organism", "Bilateria", - "Eukaryota", - "root", - "Otophysi", - "whole organism", - "Danio", - "Danionidae", - "anatomical structure", "material entity", - "whole organism physical object quality, abnormal", - "multicellular organism", - "Clupeocephala", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology", - "Actinopterygii", - "Ostariophysi", - "Vertebrata ", - "whole organism quality, abnormal", "anatomical entity", "Deuterostomia", - "Cyprinoidei", - "multicellular anatomical structure", + "zebrafish anatomical entity", + "Otophysi", + "Eukaryota", + "whole organism quality, abnormal", + "independent continuant", + "Actinopteri", + "Neopterygii", + "whole organism physical object quality, abnormal", + "Teleostomi", + "multicellular organism", "Opisthokonta", - "abnormal anatomical entity morphology in the independent continuant", - "Osteoglossocephalai", "continuant", - "Zebrafish Phenotype", - "Phenotypic abnormality", - "phenotype by ontology source", + "Osteoglossocephalai", + "abnormal anatomical entity morphology in the independent continuant", + "Euteleostomi", + "Ostariophysi", + "Actinopterygii", + "Vertebrata ", + "abnormal anatomical entity morphology", + "Craniata ", "Eumetazoa", + "phenotype by ontology source", "Chordata", - "Craniata ", - "Danioninae", + "whole organism", "Cypriniformes", + "Danioninae", "Teleostei", - "Euteleostomi", + "anatomical structure", + "root", + "whole organism morphology, abnormal", + "zebrafish anatomical entity quality, abnormal", "entity", - "Teleostomi", - "independent continuant", - "Actinopteri", - "Neopterygii", "Cypriniphysae", - "specifically dependent continuant", "cellular organisms", + "specifically dependent continuant", "anatomical structure quality, abnormal", "abnormal anatomical entity", - "quality", - "Metazoa", + "multicellular anatomical structure", + "Cyprinoidei", + "Danio", + "Danionidae", + "material anatomical entity", "phenotype", - "Gnathostomata ", "Otomorpha", - "whole organism morphology, abnormal", - "zebrafish anatomical entity quality, abnormal", - "zebrafish anatomical entity" + "quality", + "Gnathostomata ", + "Metazoa", + "abnormal phenotype by ontology source", + "Clupeocephala", + "Zebrafish Phenotype", + "Phenotypic abnormality", + "organism" ], "has_phenotype_count": 1 }, diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json index e19000a5d..43bb51fe1 100644 --- a/frontend/fixtures/search.json +++ b/frontend/fixtures/search.json @@ -54,7 +54,6 @@ "HP:0100026", "HP:0040071", "HP:0012639", - "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", @@ -71,19 +70,21 @@ "HP:0002650", "HP:0000252", "HP:0001882", + "HP:0001510", "HP:0002863", "HP:0002119", - "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", + "HP:0001562", "HP:0100867", "HP:0100760", "HP:0100542", "HP:0012041", "HP:0010293", "HP:0008678", + "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -102,7 +103,6 @@ "HP:0001639", "HP:0001636", "HP:0001631", - "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", @@ -162,7 +162,6 @@ "Arteriovenous malformation", "Abnormal morphology of ulna", "Abnormal nervous system morphology", - "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", @@ -179,19 +178,21 @@ "Scoliosis", "Microcephaly", "Leukopenia", + "Growth delay", "Myelodysplasia", "Ventriculomegaly", - "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", + "Oligohydramnios", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", + "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -210,7 +211,6 @@ "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", - "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", @@ -261,151 +261,151 @@ ], "has_phenotype_closure": [ "HP:0001010", + "UPHENO:0084987", "UPHENO:0085070", - "CL:0000458", "HP:0001873", - "UPHENO:0085344", + "UPHENO:0086173", + "CL:0000458", "UPHENO:0085189", - "UPHENO:0084987", "UPHENO:0086049", - "HP:0011875", "CL:0000233", "CL:0000457", - "UPHENO:0086173", + "UPHENO:0085344", + "HP:0011875", "HP:0001939", - "HP:0003220", "GO:0008152", + "HP:0003220", "HP:0000002", "UPHENO:0080351", "UPHENO:0075159", - "GO:0030218", + "GO:0048871", + "UPHENO:0088162", + "UPHENO:0088170", + "CL:0000329", "HP:0010972", - "GO:0030099", - "UPHENO:0077892", - "GO:0030097", + "HP:0020047", + "CL:0000764", + "HP:0005522", "HP:0001877", "HP:0025461", "UPHENO:0084928", - "CL:0000329", - "UPHENO:0088162", - "GO:0048871", - "CL:0000764", - "GO:0048872", - "UPHENO:0088170", - "GO:0048869", + "GO:0030218", "GO:0002376", "GO:0009987", "GO:0042592", - "HP:0005522", - "HP:0020047", + "GO:0048869", "CL:0000232", + "GO:0048872", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0002818", "UBERON:0015001", "UPHENO:0080187", - "HP:0002818", - "UPHENO:0075198", "HP:0012745", + "UPHENO:0075198", "HP:0000010", "UPHENO:0002263", "UPHENO:0053644", "HP:0000028", - "UPHENO:0002806", - "UBERON:0000056", - "UBERON:0006555", "UBERON:0036295", + "UBERON:0006555", + "UPHENO:0002806", "HP:0025633", - "UPHENO:0002442", + "UBERON:0000056", "UPHENO:0086132", - "HP:0000083", + "UPHENO:0002442", "UPHENO:0002411", "HP:0012211", + "HP:0000083", "HP:0000135", "HP:5201015", - "UPHENO:0081423", "UPHENO:0034110", "UPHENO:0063513", + "UPHENO:0081423", "HP:0000268", "UPHENO:0001208", - "UBERON:0013766", "UPHENO:0072402", "UBERON:0001084", - "UBERON:1000021", - "UPHENO:0087928", "UPHENO:0087058", - "HP:0000324", + "UBERON:0013766", + "UPHENO:0087928", + "UBERON:1000021", "UPHENO:0084734", "HP:0001999", + "HP:0000324", + "UPHENO:0041084", "HP:0001263", "UPHENO:0005982", - "UPHENO:0041084", - "UPHENO:0041083", "UPHENO:0076704", - "UBERON:0004768", - "UPHENO:0069249", + "UPHENO:0041083", "UPHENO:0081786", - "HP:0009116", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0003278", - "UBERON:0001684", + "UBERON:0004768", + "HP:0004322", + "HP:0030791", + "HP:0000277", + "UPHENO:0083646", + "UPHENO:0081314", "UPHENO:0084457", "HP:0000286", "HP:0009118", "UPHENO:0088116", - "UBERON:0001710", - "UPHENO:0083646", - "UPHENO:0081314", - "HP:0004322", - "HP:0030791", "CL:0000081", "UBERON:0012360", - "HP:0011873", - "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0069249", + "UBERON:0001708", + "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", "UPHENO:0081141", + "HP:0009116", "HP:0000347", - "UPHENO:0080087", + "UBERON:0001710", "HP:0009122", - "HP:0000277", - "GO:0050954", - "HP:0000365", + "HP:0011873", + "UPHENO:0081788", "UPHENO:0005518", + "HP:0000365", + "GO:0050954", "UPHENO:0052970", - "HP:0000486", "HP:0000549", - "GO:0050953", + "HP:0000486", + "UPHENO:0052164", "UPHENO:0050236", + "GO:0050953", "GO:0034101", "UPHENO:0050622", - "UPHENO:0052164", - "UPHENO:0085881", "HP:0000520", + "UPHENO:0085881", "HP:0000568", "UPHENO:0075219", "HP:0100887", - "HP:0007670", + "UPHENO:0066972", + "UPHENO:0080581", "UPHENO:0079837", "HP:0000359", "HP:0000496", + "UPHENO:0079828", + "HP:0007670", + "UPHENO:0002240", "UPHENO:0080602", "UPHENO:0003044", - "UPHENO:0066972", - "UPHENO:0080581", "HP:0011821", "HP:0012547", "HP:0031704", - "UPHENO:0079828", - "UPHENO:0002240", - "UBERON:0003975", + "UBERON:0003100", "HP:0000008", - "UPHENO:0041033", - "HP:0000130", + "UBERON:0003975", "UPHENO:0003053", - "UBERON:0003100", - "HP:0002719", - "UPHENO:0076766", + "UPHENO:0041033", "HP:0010460", "UPHENO:0005170", "UBERON:0000993", "UBERON:0013515", + "HP:0000130", + "HP:0002719", + "UPHENO:0076766", "UBERON:0012358", "GO:0002262", "UBERON:0003620", @@ -414,326 +414,332 @@ "UBERON:0015025", "HP:0001172", "UBERON:0015024", - "UPHENO:0076724", "UPHENO:0021800", + "UPHENO:0076724", "UBERON:5102389", - "NBO:0000403", - "NBO:0000001", - "NBO:0000389", - "GO:0050905", - "NBO:0000338", - "UPHENO:0041151", - "UPHENO:0078622", + "GO:0007610", "HP:0000708", "HP:0001347", - "UPHENO:0049622", - "GO:0007610", + "NBO:0000389", + "UPHENO:0050606", "UPHENO:0083263", + "UPHENO:0049622", "UBERON:0004742", "NBO:0000388", - "UPHENO:0050620", - "GO:0060004", - "UPHENO:0050613", + "HP:0100022", "UPHENO:0080585", + "UPHENO:0050613", + "NBO:0000403", + "NBO:0000001", "GO:0050896", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0050620", + "GO:0060004", "UPHENO:0050079", - "UPHENO:0050606", - "HP:0100022", + "GO:0050905", + "NBO:0000338", "UPHENO:0080393", + "HP:0001537", "UPHENO:0076794", "HP:0001551", - "HP:0001537", + "UBERON:0000474", + "HP:0010866", + "UPHENO:0086122", "UBERON:0003697", - "HP:0004299", - "UPHENO:0002712", - "HP:0003549", "HP:0004298", "UBERON:0007118", - "UPHENO:0086122", - "UBERON:0000474", - "HP:0010866", - "UBERON:0000173", - "HP:0001562", - "HP:0001560", - "UBERON:0000323", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0086128", - "UPHENO:0015329", + "HP:0003549", + "HP:0004299", + "UPHENO:0002712", + "UPHENO:0019890", "UPHENO:0069254", "UBERON:0002085", "UPHENO:0086857", - "UPHENO:0019890", - "GO:0007600", - "HP:0001671", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0084715", + "HP:0001714", "UPHENO:0019886", - "UBERON:0002094", - "UBERON:0003037", - "HP:0031654", + "HP:0001641", "HP:0011563", - "UPHENO:0042775", - "UBERON:0002099", - "UPHENO:0084482", + "UBERON:0010688", + "UPHENO:0086855", "HP:0000218", "UBERON:0002146", - "HP:0001714", - "UPHENO:0086864", + "GO:0007600", + "HP:0001671", + "UBERON:0003037", + "UBERON:0002094", + "HP:0011025", "UPHENO:0086863", "HP:0001707", - "HP:0002623", - "UPHENO:0086854", - "UPHENO:0084715", "UPHENO:0084489", "HP:0001636", - "HP:0001641", - "HP:0011025", - "UBERON:0010688", - "UPHENO:0086855", "HP:0011545", - "UPHENO:0024906", - "UPHENO:0077800", - "HP:0001637", - "UBERON:0018260", - "UBERON:0005983", - "UBERON:0000383", + "HP:0002623", + "UPHENO:0086854", + "UPHENO:0042775", + "UBERON:0002099", + "UPHENO:0086864", + "HP:0031654", + "UPHENO:0084482", "UPHENO:0076781", + "UBERON:0000383", + "UBERON:0005983", "HP:0001638", - "UBERON:0003513", - "HP:0001643", - "UBERON:0011695", + "UPHENO:0024906", + "UBERON:0018260", + "HP:0001637", + "UPHENO:0077800", + "UBERON:0004716", "UBERON:0003834", "UBERON:0005985", "UBERON:0018674", - "UPHENO:0087018", + "HP:0001643", "UPHENO:0087309", - "UBERON:0004716", + "UBERON:0011695", + "UBERON:0003513", "UPHENO:0015290", + "UPHENO:0087018", "UBERON:0006876", "UBERON:0002201", "UBERON:0003498", + "UBERON:0010191", + "UPHENO:0076809", "HP:0002692", "UBERON:0003519", - "UPHENO:0076809", - "UBERON:0010191", "HP:0001679", "UPHENO:0082454", + "UPHENO:0041369", "HP:0001631", "UPHENO:0041565", - "UPHENO:0041369", - "UPHENO:0078347", "UPHENO:0078246", + "UPHENO:0078347", "UBERON:0003457", "UBERON:0011300", - "UPHENO:0041041", - "UPHENO:0082905", - "UBERON:0008200", - "UBERON:0002020", - "UBERON:0000956", - "UBERON:0000203", + "UPHENO:0087530", + "UPHENO:0088115", + "UPHENO:0084465", "HP:0002007", "HP:0430000", + "UPHENO:0086595", + "HP:0002538", "UPHENO:0076732", "UBERON:0007914", - "UBERON:0004756", - "UBERON:0001869", + "HP:0002683", + "UPHENO:0002700", "UPHENO:0055092", "UPHENO:0005994", + "UBERON:0008200", + "UBERON:0003528", + "UBERON:0000209", "UBERON:0004339", "UBERON:0010364", "UBERON:0011158", - "HP:0002683", - "UBERON:0003528", - "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0004756", + "UBERON:0001869", "HP:0000290", - "UPHENO:0087530", - "UPHENO:0088115", - "UPHENO:0086595", - "HP:0002538", - "UPHENO:0084465", - "UBERON:0005401", "UBERON:0016529", - "UPHENO:0002700", + "UBERON:0005401", + "UBERON:0002410", + "UBERON:0000045", + "UPHENO:0087601", "HP:0001763", "UPHENO:0086978", "UPHENO:0087933", - "HP:0410015", - "UBERON:0002005", - "UBERON:0001808", - "UBERON:0003338", "UPHENO:0085068", "HP:0025028", - "UBERON:0000011", - "UPHENO:0087601", "UBERON:0001809", + "UBERON:0003338", "HP:0410014", - "HP:0012331", - "UPHENO:0087602", + "UPHENO:0002941", + "HP:0410015", + "UPHENO:0087121", + "UBERON:0002005", + "UBERON:0001808", + "HP:0002251", + "UPHENO:0020258", + "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", - "UPHENO:0051077", - "HP:0000001", - "UPHENO:0087950", - "UBERON:0002240", + "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", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0051077", + "HP:0000001", + "UPHENO:0087950", "UPHENO:0075148", "UBERON:0004249", "GO:0035295", - "UPHENO:0076744", - "HP:0040069", - "UBERON:0000464", - "HP:0011277", - "UPHENO:0063599", - "UPHENO:0076707", - "UPHENO:0087232", "UPHENO:0084729", "UBERON:0016880", - "UBERON:0005409", - "UPHENO:0086797", - "HP:0002242", + "UBERON:0000047", + "GO:0016331", + "HP:0000202", + "UPHENO:0052778", + "UPHENO:0055730", + "GO:0021915", + "UBERON:5101463", + "GO:0007399", + "GO:0060429", + "UPHENO:0077885", + "BFO:0000003", + "UBERON:0000003", "UPHENO:0076780", "UPHENO:0077854", "HP:0004323", - "UBERON:0034713", - "UPHENO:0005642", - "UPHENO:0019888", - "HP:0100627", - "UPHENO:0085876", - "UBERON:0001785", - "UBERON:0005162", - "UPHENO:0088186", - "HP:0045010", - "UBERON:0000010", + "UPHENO:0086797", + "HP:0002242", + "UBERON:0001043", + "HP:0001713", + "UBERON:0035554", + "UPHENO:0041410", "UBERON:0001530", "UPHENO:0076722", "UBERON:0001424", "HP:0002650", - "HP:0009484", + "UBERON:0000010", "UPHENO:0041146", - "UBERON:0000047", - "HP:0031826", - "UPHENO:0081603", - "UBERON:5006052", - "UPHENO:0087806", - "UPHENO:0002828", - "UBERON:0035133", - "NCBITaxon:6072", - "UPHENO:0076776", - "UPHENO:0088050", - "UPHENO:0087186", - "UPHENO:0081435", - "HP:0001760", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0045010", + "UBERON:0005162", + "UPHENO:0088186", + "UPHENO:0085876", + "UBERON:0001785", + "HP:0009484", + "UBERON:0034713", + "UPHENO:0005642", + "UPHENO:0019888", + "HP:0100627", "UPHENO:0004508", "BFO:0000020", "UBERON:0012354", - "HP:0012243", - "NCBITaxon:33154", - "UBERON:0011892", - "GO:0005623", - "UBERON:0006311", - "UPHENO:0021670", - "UPHENO:0079826", - "UPHENO:0072814", - "HP:0000553", - "HP:0008062", - "UPHENO:0081313", - "HP:0000483", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:5102544", - "HP:0040070", - "UPHENO:0076718", - "HP:0012443", - "UBERON:0001032", - "UBERON:0002616", - "UBERON:0002101", "UBERON:0003466", "HP:0000047", "UBERON:0000483", "BFO:0000141", - "UPHENO:0041664", - "UPHENO:0086817", - "HP:0100867", + "UBERON:0002514", + "HP:0011844", + "UBERON:0001434", + "HP:0002795", "UBERON:0004572", "UBERON:0004708", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UPHENO:0087349", + "UBERON:0000468", + "UPHENO:0046538", + "UPHENO:0076718", + "HP:0040071", + "UBERON:0002102", + "UPHENO:0003811", + "GO:0009792", + "UBERON:0004375", + "UPHENO:0021561", + "HP:0040070", + "UBERON:0008001", + "UPHENO:0031199", + "UBERON:0002204", + "UBERON:0001333", + "GO:0003008", + "UBERON:0004582", + "UPHENO:0086956", + "UBERON:0003607", + "UBERON:0015003", + "UBERON:0010712", "UBERON:0012475", + "UBERON:0004535", + "UPHENO:0002880", + "UBERON:0003914", "UPHENO:0020868", "HP:0002973", "HP:0000175", "UPHENO:0003098", "UBERON:0011676", "HP:0000025", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "UBERON:0002101", + "HP:0002817", + "UPHENO:0085118", + "UBERON:0010358", + "UBERON:0001062", + "UBERON:0000981", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + "UBERON:0005423", + "HP:0004207", "UPHENO:0076740", - "UBERON:0008001", - "UPHENO:0031199", - "UBERON:0002204", - "UBERON:0001333", - "UBERON:0003607", - "UPHENO:0002880", - "UBERON:0004535", - "UPHENO:0077877", - "HP:0000340", - "UPHENO:0002751", - "UBERON:0004766", - "HP:0007700", - "UPHENO:0088185", - "UBERON:0010712", - "GO:0003008", - "UBERON:0004582", - "UBERON:0002102", - "UPHENO:0003811", - "HP:0040071", - "UPHENO:0021561", - "UBERON:0015003", - "UBERON:0001434", - "HP:0002795", - "UPHENO:0082356", - "UBERON:0001766", - "HP:0040064", "HP:0045005", "GO:0002009", "UPHENO:0087501", - "UPHENO:0080079", - "HP:0007364", - "UBERON:0002514", - "HP:0011844", - "UPHENO:0086956", - "UBERON:0000981", - "UBERON:0011584", - "UBERON:0004923", - "UBERON:0000026", - "UBERON:0005423", - "HP:0004207", - "UPHENO:0076703", - "UBERON:0005337", - "HP:0000582", "UBERON:0008962", "UPHENO:0011498", "UBERON:0000955", "UBERON:0002428", "HP:0000639", "UBERON:0003128", - "UPHENO:0087349", - "UBERON:0000468", - "UPHENO:0046538", - "HP:0002817", - "UPHENO:0019766", - "HP:0000953", - "UPHENO:0018390", + "HP:0100867", + "HP:0040064", + "UPHENO:0076703", + "UBERON:0005337", + "HP:0000582", + "HP:0025015", + "UBERON:0000970", + "HP:0006495", "PATO:0000001", "UBERON:0003625", "HP:0002597", "UBERON:0002049", "UBERON:0001016", "UBERON:0002107", - "HP:0025015", - "UBERON:0000970", - "HP:0006495", - "UBERON:0007272", - "UBERON:0004537", - "UBERON:0000064", + "HP:0001710", + "UPHENO:0087363", + "UPHENO:0076776", + "UBERON:0035133", + "NCBITaxon:6072", "HP:0032101", "HP:0001511", "UPHENO:0080362", @@ -741,21 +747,25 @@ "UPHENO:0076729", "UPHENO:0063527", "UBERON:0004145", + "UBERON:0007272", + "UBERON:0004537", + "UBERON:0000064", + "UPHENO:0019766", + "HP:0000953", + "UPHENO:0018390", "UBERON:0008811", - "HP:0001629", - "UBERON:0004120", - "GO:0007605", - "UBERON:0010363", - "UPHENO:0087548", - "UBERON:0004151", - "UBERON:0035639", - "UPHENO:0003058", "UBERON:0001332", "UBERON:0010719", "UPHENO:0086792", "GO:0007275", "UPHENO:0078288", "UBERON:0000989", + "GO:0007605", + "UBERON:0010363", + "UPHENO:0087548", + "UBERON:0004151", + "UBERON:0035639", + "UPHENO:0003058", "GO:0001841", "UBERON:0002349", "UPHENO:0080662", @@ -763,29 +773,42 @@ "GO:0048646", "UPHENO:0046753", "UPHENO:0087907", + "HP:0001629", + "UBERON:0004120", "HP:0100543", "UBERON:0001075", "UPHENO:0050108", + "HP:0012759", + "HP:0002118", "HP:0009602", "HP:0012638", "HP:0001780", "HP:0006101", - "HP:0012759", - "HP:0002118", - "UBERON:0011107", - "GO:0050879", - "UPHENO:0076702", - "UBERON:0000475", + "HP:0006824", + "UPHENO:0002708", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0007779", + "UBERON:0012151", + "HP:0100026", + "GO:0040007", + "HP:0002921", + "HP:0002813", + "UPHENO:0003405", + "UBERON:0010418", + "UBERON:0005358", + "UPHENO:0087433", "UPHENO:0088123", "UPHENO:0079833", "UBERON:0004086", "UBERON:0000153", "UPHENO:0019898", "UPHENO:0075933", - "HP:0006824", - "UPHENO:0002708", - "HP:0002011", - "UPHENO:0081700", + "HP:0000238", + "GO:0050879", + "UPHENO:0076702", + "UBERON:0000475", + "UBERON:0011107", "HP:0000036", "UBERON:0005281", "UPHENO:0085874", @@ -798,80 +821,49 @@ "UPHENO:0005597", "UPHENO:0033635", "UBERON:0004771", - "UBERON:0012151", - "HP:0100026", - "GO:0040007", - "HP:0002921", - "HP:0002813", - "UPHENO:0003405", - "UPHENO:0080202", - "UBERON:0000995", - "UBERON:0010428", - "UBERON:0005358", - "UPHENO:0087433", - "UBERON:0007779", "UPHENO:0004523", "HP:0009115", - "UBERON:0010418", - "HP:0000238", + "UPHENO:0088185", + "UBERON:0004766", + "HP:0007700", "UPHENO:0056212", "UBERON:0002081", "UPHENO:0086610", - "UPHENO:0031193", - "HP:0002863", - "UBERON:0001021", - "UPHENO:0031170", "UBERON:0002471", "UPHENO:0087089", "HP:0012848", "UPHENO:0041098", "GO:0032502", "UPHENO:0002832", - "UBERON:0001460", - "HP:0032251", - "HP:0000152", - "UBERON:0003134", - "HP:0030962", - "UPHENO:0041053", - "UPHENO:0087472", - "UBERON:0001130", - "HP:0010161", - "GO:0007601", - "UBERON:0000465", - "UPHENO:0002598", - "UBERON:0001968", - "HP:0410043", - "UPHENO:0081709", - "UPHENO:0053298", - "UBERON:0000165", - "GO:0009605", - "UBERON:0004088", - "UPHENO:0088049", - "UBERON:0011137", - "HP:0012639", - "BFO:0000002", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "HP:0011218", "UPHENO:0002219", "HP:0000072", "UPHENO:0006910", - "HP:0000202", - "UPHENO:0052778", - "GO:0016331", - "UBERON:0001870", - "UBERON:0004175", - "UBERON:0011216", - "HP:0011024", - "UPHENO:0056237", - "HP:0012758", - "UBERON:0002193", - "UPHENO:0087846", - "BFO:0000004", + "GO:0035239", + "UBERON:0002091", + "UPHENO:0041591", + "UBERON:0003947", + "CL:0000019", + "UBERON:0002082", + "UPHENO:0084815", + "HP:0003026", + "UPHENO:0087665", "UBERON:0011249", "UPHENO:0005998", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0056333", - "UBERON:0003133", + "UBERON:0000062", + "HP:0005344", + "UBERON:0011582", + "HP:0010301", + "UPHENO:0031129", + "GO:0001838", + "UBERON:0000061", + "UPHENO:0076803", + "UPHENO:0031193", + "HP:0002863", "HP:0025354", "HP:0001646", "UPHENO:0050625", @@ -879,6 +871,9 @@ "UBERON:0001137", "HP:0004378", "UPHENO:0001002", + "UBERON:0003135", + "UPHENO:0002332", + "UBERON:0015030", "UBERON:0019264", "HP:0033353", "UPHENO:0020584", @@ -886,60 +881,62 @@ "UPHENO:0081566", "UPHENO:0014240", "HP:0000356", - "HP:0000153", - "HP:0100491", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0087531", - "UPHENO:0086198", - "HP:0000539", - "UBERON:0003135", - "UBERON:0011138", - "UBERON:0004571", - "UBERON:0000065", - "GO:0022414", + "UBERON:0001130", + "HP:0010161", + "GO:0007601", + "UBERON:0000465", + "UBERON:0001423", + "UBERON:0004176", + "UPHENO:0021823", + "UPHENO:0085194", + "UBERON:0000991", + "HP:0000707", + "HP:0000795", + "UBERON:0000990", + "BFO:0000001", + "UPHENO:0002635", + "HP:0030311", + "UPHENO:0002371", + "BFO:0000004", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0056333", + "UBERON:0003133", + "GO:0048729", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "HP:0002414", + "UPHENO:0082129", + "HP:0003330", + "UPHENO:0001005", "UBERON:0003509", "UBERON:0015021", "HP:0001667", "HP:0000027", - "UBERON:0001049", - "HP:0034261", - "UPHENO:0020641", - "UPHENO:0076692", - "HP:0011961", + "UPHENO:0019477", + "UBERON:0011138", + "UBERON:0004571", + "UBERON:0000065", + "GO:0022414", + "HP:0045058", "UPHENO:0086005", "UPHENO:0087510", "GO:0009653", "UBERON:0000964", - "HP:0045058", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0001005", - "UPHENO:0002597", - "UPHENO:0002764", - "UPHENO:0076941", - "GO:0050881", - "HP:0008669", - "HP:0000505", - "UBERON:0006058", - "UBERON:0015203", - "UPHENO:0087022", - "UBERON:0001768", - "UBERON:0000991", - "NCBITaxon:131567", - "UBERON:0001981", - "UPHENO:0002406", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0005433", - "UBERON:0000990", - "UPHENO:0001003", - "UPHENO:0002332", - "UBERON:0015030", - "UBERON:0008784", - "UPHENO:0049970", - "HP:0001627", + "UPHENO:0081709", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0011137", + "HP:0012639", + "BFO:0000002", + "HP:0000481", + "UPHENO:0015280", + "HP:0001560", + "UPHENO:0075902", + "UBERON:0001007", + "UPHENO:0072194", + "UPHENO:0079876", "HP:0010468", "UPHENO:0076727", "UBERON:0003608", @@ -948,152 +945,82 @@ "UPHENO:0076739", "UPHENO:0005986", "CL:0002242", + "HP:0006501", + "HP:0001642", + "UPHENO:0005116", + "UBERON:0005181", "UBERON:0005291", "UPHENO:0081755", "UBERON:0002103", "UBERON:0003462", "NBO:0000411", "HP:0000163", - "HP:0008055", - "UPHENO:0041462", "UPHENO:0086201", - "HP:0000759", - "UPHENO:0076735", - "UPHENO:0078081", - "UBERON:0002495", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015063", "UPHENO:0080352", "HP:0025031", - "GO:0009888", - "HP:0000925", - "UPHENO:0075997", - "GO:0048598", - "UPHENO:0003055", - "GO:0008150", - "HP:0007565", - "UPHENO:0086700", - "UBERON:0003126", - "UBERON:0001009", - "UPHENO:0002830", - "CL:0000015", - "UBERON:0015228", - "UBERON:0002513", - "HP:0004362", - "GO:0032504", - "HP:0000078", - "UBERON:0000062", - "HP:0003468", - "UPHENO:0020950", - "UPHENO:0081424", - "UBERON:0000075", - "UPHENO:0087894", - "UPHENO:0002901", - "UPHENO:0021823", - "UPHENO:0085194", - "UPHENO:0081598", - "UBERON:0011595", - "UPHENO:0081608", - "UBERON:0001423", - "UBERON:0004176", - "UPHENO:0020748", - "UPHENO:0081584", - "UPHENO:0002595", - "HP:0012041", - "UBERON:0010313", - "HP:0000315", - "UBERON:0001004", - "HP:0000481", - "UPHENO:0015280", - "UPHENO:0075902", - "HP:0001249", - "UBERON:0000479", - "UBERON:0001007", - "UPHENO:0072194", - "UPHENO:0079876", - "NCBITaxon:33208", - "UBERON:0011374", - "GO:0001843", - "UPHENO:0079839", - "UPHENO:0021672", - "HP:0012130", - "UBERON:0002405", - "NCBITaxon:2759", - "UPHENO:0076800", - "UBERON:0002386", - "HP:0002778", - "HP:0000812", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000240", - "UBERON:0003947", - "CL:0000019", - "UPHENO:0041591", - "UBERON:0002082", - "UPHENO:0084815", - "HP:0003026", - "UPHENO:0076957", - "UPHENO:0005651", - "UBERON:0005178", - "UBERON:0001436", - "UPHENO:0049701", + "UPHENO:0086621", + "HP:0010461", "UBERON:0000020", - "UPHENO:0080165", - "UPHENO:0087547", - "UBERON:0001638", - "CL:0000413", - "UPHENO:0041395", - "UBERON:0000922", - "UBERON:0007811", - "UPHENO:0084816", - "HP:0012252", - "UBERON:0000057", - "UPHENO:0088338", - "UPHENO:0077872", - "UBERON:0010409", - "UBERON:0002104", - "UBERON:0011215", - "GO:0048856", - "HP:0006503", - "HP:0006501", - "HP:0001642", - "UBERON:0005181", - "UPHENO:0005116", - "UPHENO:0087665", - "HP:0000707", - "HP:0000795", - "HP:0011389", - "GO:0007276", - "UBERON:0004710", - "HP:0005773", - "UPHENO:0026028", - "UBERON:0001062", - "UPHENO:0085118", - "UBERON:0010358", - "UPHENO:0015303", - "UBERON:0010314", - "HP:0100691", - "GO:0003006", - "GO:0048609", - "UPHENO:0078267", + "HP:0000078", + "HP:0032251", + "UBERON:0001460", + "GO:0050881", + "HP:0008669", + "HP:0000505", + "UBERON:0006058", + "UBERON:0015203", + "UPHENO:0087022", + "UBERON:0001768", + "UBERON:0001021", + "UPHENO:0031170", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0011159", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0086091", + "UPHENO:0002406", + "UPHENO:0082875", + "HP:0011355", + "HP:0001872", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0012874", + "UBERON:0004529", + "UPHENO:0002598", + "UPHENO:0078729", + "UBERON:0002495", + "UBERON:0000463", + "UBERON:0015063", "UBERON:0010707", "UPHENO:0049985", + "UPHENO:0002595", + "UPHENO:0002992", + "HP:0007874", + "HP:0012041", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0087531", + "UPHENO:0086198", + "HP:0000539", + "HP:0000153", + "HP:0100491", + "UBERON:0001049", + "HP:0034261", + "UPHENO:0020641", + "UPHENO:0076692", + "HP:0011961", + "UBERON:0034923", "UBERON:0004054", "HP:0100736", "UPHENO:0087577", "UPHENO:0084834", - "UBERON:0034923", - "UPHENO:0020967", - "UBERON:0000473", - "UBERON:0000477", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0050101", - "UPHENO:0008523", - "UBERON:0010703", - "HP:0002823", + "UBERON:0001004", "UBERON:0002080", "UPHENO:0078452", "UBERON:0011779", @@ -1103,71 +1030,146 @@ "HP:0003022", "UPHENO:0026506", "GO:0032501", - "HP:0000234", - "UPHENO:0085873", - "UBERON:0002075", - "UBERON:0012150", - "UBERON:0001486", - "CL:0000300", - "UPHENO:0020998", - "UBERON:0010538", - "UBERON:0005445", - "UPHENO:0046540", - "HP:0001626", - "GO:0000003", - "UPHENO:0087006", - "HP:0002119", - "GO:0048232", - "UBERON:0015061", - "UPHENO:0002833", - "UPHENO:0010763", - "UBERON:0005156", + "HP:0410043", + "UBERON:0000479", + "HP:0001249", + "UBERON:0001968", "HP:0001751", "HP:0000035", "UBERON:0001709", "UBERON:0016525", "UPHENO:0087973", "UPHENO:0075878", - "UPHENO:0077885", - "BFO:0000003", - "GO:0060429", - "UBERON:0000003", + "UPHENO:0033572", + "HP:0002246", "PR:000050567", - "HP:0000593", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0011159", - "UPHENO:0079872", - "UBERON:0002544", - "UPHENO:0076695", - "UBERON:0000060", - "UPHENO:0087585", - "UBERON:0016548", - "UPHENO:0088171", - "GO:0019953", - "UPHENO:0086091", - "HP:0001872", - "UBERON:0002100", - "UPHENO:0076675", - "HP:0012874", - "UBERON:0004529", - "HP:0005344", - "UBERON:0011582", - "UPHENO:0082467", - "UPHENO:0052178", - "HP:0010301", - "UPHENO:0031129", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0002635", - "HP:0030311", - "UPHENO:0075208", - "HP:0000811", - "HP:0004328", + "UPHENO:0075684", + "HP:0030680", + "UPHENO:0002448", + "UPHENO:0056237", + "HP:0012758", + "UBERON:0002193", + "UPHENO:0087846", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0001870", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "HP:0000315", + "UBERON:0010313", + "UPHENO:0001003", + "HP:0000759", + "UPHENO:0076735", + "UPHENO:0078081", "UBERON:0016879", - "BFO:0000040", + "UPHENO:0005433", + "UBERON:0005156", + "GO:0048232", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0010763", + "UBERON:0001009", + "UPHENO:0002830", + "CL:0000015", + "UBERON:0015228", + "UPHENO:0081598", + "UPHENO:0081608", + "UBERON:0011595", + "HP:0004362", + "UBERON:0002513", + "GO:0032504", + "UBERON:0001638", + "CL:0000413", + "UPHENO:0080165", + "UPHENO:0087547", "NBO:0000416", "HP:0001871", + "BFO:0000040", + "HP:0000152", + "HP:0009121", + "UBERON:0010741", + "UPHENO:0041037", + "UPHENO:0078267", + "GO:0003006", + "GO:0048609", + "UPHENO:0081424", + "UBERON:0000075", + "UPHENO:0087894", + "UPHENO:0002901", + "HP:0011389", + "GO:0007276", + "UBERON:0004710", + "HP:0005773", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0088050", + "UBERON:0008784", + "UPHENO:0049970", + "HP:0001627", + "UBERON:0003126", + "UPHENO:0081584", + "UPHENO:0020748", + "UPHENO:0086700", + "UBERON:0002050", + "UBERON:0010703", + "HP:0002823", + "HP:0003468", + "UPHENO:0020950", + "UPHENO:0020967", + "UBERON:0000473", + "HP:0000234", + "UPHENO:0085873", + "UBERON:0002075", + "UBERON:0002544", + "UPHENO:0087585", + "UPHENO:0076695", + "UBERON:0000060", + "UBERON:0012150", + "UBERON:0001486", + "CL:0000300", + "UPHENO:0020998", + "UBERON:0010538", + "UBERON:0005445", + "UPHENO:0046540", + "HP:0001626", + "GO:0000003", + "UPHENO:0087006", + "HP:0002119", + "UBERON:0001436", + "UPHENO:0049701", + "UPHENO:0005651", + "UBERON:0005178", + "UPHENO:0026028", + "UPHENO:0015303", + "UBERON:0010314", + "HP:0100691", + "UPHENO:0075208", + "HP:0000811", + "HP:0004328", + "UPHENO:0041395", + "UBERON:0000922", + "UBERON:0007811", + "UPHENO:0084816", + "HP:0012252", + "UPHENO:0008523", + "UPHENO:0050101", + "UBERON:0000057", + "UPHENO:0088338", + "UBERON:0011215", + "GO:0048856", + "HP:0006503", + "UPHENO:0076800", + "UBERON:0002386", + "HP:0002778", + "HP:0000812", + "UPHENO:0078730", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0084763", + "UBERON:0001691", + "UPHENO:0075220", "UBERON:0002105", "UPHENO:0081792", "UBERON:0022303", @@ -1178,8 +1180,14 @@ "UBERON:0011250", "UBERON:0001690", "UBERON:0015410", - "UPHENO:0002678", - "UPHENO:0051003", + "HP:0011842", + "UBERON:0001440", + "UPHENO:0075696", + "UBERON:0006598", + "UBERON:0004908", + "HP:0012243", + "HP:0005607", + "UBERON:0007798", "HP:0001053", "UPHENO:0069523", "UPHENO:0033604", @@ -1188,10 +1196,25 @@ "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", @@ -1200,237 +1223,155 @@ "UPHENO:0002378", "UPHENO:0076765", "HP:0002086", + "UBERON:0003920", + "UBERON:0010371", + "UBERON:0001801", "HP:0000478", - "UBERON:0000481", - "HP:0000957", + "UPHENO:0041079", + "UBERON:0019231", + "HP:0031703", + "UBERON:0003134", + "HP:0030962", + "UPHENO:0041053", "HP:0011314", "UBERON:0001819", "UBERON:0003657", - "UPHENO:0075175", - "UPHENO:0080300", - "UPHENO:0088047", - "HP:0010461", - "UPHENO:0086621", - "RO:0002577", - "HP:0000951", "HP:0000364", "GO:0009790", "UPHENO:0081574", "UPHENO:0086159", "UPHENO:0076730", - "UBERON:0001463", - "UPHENO:0086023", - "UPHENO:0041226", - "UBERON:0034925", - "HP:0000598", - "UPHENO:0080103", - "UPHENO:0084763", - "UBERON:0001691", - "UPHENO:0075220", - "HP:0011842", - "UBERON:0001440", - "UPHENO:0075696", - "UBERON:0006598", - "UBERON:0004908", - "HP:0005607", - "UBERON:0007798", - "HP:0002664", + "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", - "HP:0011793", - "HP:0011603", - "CL:0000000", - "UBERON:0035553", - "UPHENO:0071334", - "HP:0000032", "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", - "UBERON:0015212", - "UPHENO:0087478", - "UBERON:0001558", - "GO:0048731", - "UBERON:0001043", - "HP:0001713", - "UBERON:0035554", - "UPHENO:0041410", - "UPHENO:0071309", - "UPHENO:0002725", - "HP:0012718", - "CL:0000039", - "UBERON:0013765", - "OBI:0100026", - "UPHENO:0086633", - "UBERON:0004119", - "UPHENO:0080209", + "GO:0072175", + "HP:0002060", + "GO:0007283", + "UPHENO:0082449", "UPHENO:0087802", - "UPHENO:0075684", - "HP:0030680", - "UPHENO:0002448", - "HP:0040004", - "UBERON:0003460", - "UPHENO:0002536", - "HP:0012733", - "UPHENO:0087924", - "UPHENO:0021045", - "HP:0001000", - "UBERON:0012430", - "UPHENO:0035025", - "UPHENO:0080185", - "HP:0012373", - "UBERON:0002091", - "GO:0035239", - "HP:0000813", - "HP:0100542", - "UBERON:0000045", - "UPHENO:0002910", - "UBERON:0001272", - "GO:0007283", - "UPHENO:0082449", - "HP:0031703", - "UPHENO:0041079", - "UBERON:0019231", "UBERON:0010708", "GO:0050890", - "UBERON:0000019", "UBERON:0000073", + "UBERON:0000019", + "UPHENO:0080202", + "UBERON:0000995", + "UBERON:0010428", "GO:0050882", "UBERON:0013522", - "HP:0008438", - "UPHENO:0076798", - "UBERON:0010222", - "UPHENO:0076805", - "UPHENO:0076785", - "UBERON:0001456", - "GO:0035148", - "HP:0000453", - "GO:0048729", - "UBERON:0016491", - "UBERON:0000033", - "UBERON:0006052", - "UPHENO:0033572", - "HP:0002246", - "HP:0001710", - "UPHENO:0087363", - "UBERON:0004375", - "GO:0009792", - "UBERON:5101463", - "GO:0007399", - "GO:0021915", - "HP:0002060", - "GO:0072175", - "UPHENO:0055730", - "UBERON:0005897", - "UBERON:0005174", - "UBERON:0010741", - "UPHENO:0041037", - "HP:0009121", - "HP:0005918", - "UBERON:0034944", - "UBERON:0011164", - "UPHENO:0075655", - "HP:0007874", - "UPHENO:0002992", - "UBERON:0002050", - "UBERON:0003914", - "UBERON:0003920", - "UBERON:0001801", - "UBERON:0010371", - "UPHENO:0015282", - "HP:0000366", - "UPHENO:0087307", - "UPHENO:0050034", - "HP:0003312", - "HP:0000119", - "GO:0043009", - "UBERON:0000061", - "UPHENO:0076803", - "GO:0001838", - "UBERON:0006717", - "UBERON:0013768", - "UPHENO:0084771", - "UPHENO:0002941", - "UPHENO:0019477", - "UPHENO:0076783", - "UPHENO:0021038", - "UPHENO:0086612", - "UBERON:0001299", + "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", - "HP:0011004", - "HP:0002245", - "HP:0040195", - "UPHENO:0020809", - "UBERON:0002108", "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:0077889", - "UBERON:0000161", - "UPHENO:0086824", "UPHENO:0074228", - "UBERON:0001245", - "UPHENO:0076760", - "UPHENO:0084448", "UPHENO:0021304", "HP:0010293", - "UBERON:0013702", - "HP:0002023", - "UBERON:0002355", - "UPHENO:0087509", - "HP:0006265", + "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", - "UPHENO:0033559", - "UPHENO:0082794", - "HP:0001507", - "UBERON:0010543", - "UPHENO:0049874", - "HP:0000174", - "UBERON:0003978", - "HP:0001159", - "UBERON:0005725", - "UPHENO:0086858", - "UBERON:0001555", - "UPHENO:0015317", - "UBERON:0005623", - "UPHENO:0087612", - "UBERON:0004288", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UBERON:0002389", - "HP:0001654", + "UBERON:0016526", + "UBERON:0001805", + "UPHENO:0010795", "UPHENO:0002839", "UPHENO:0086614", "UBERON:0000915", @@ -1439,163 +1380,194 @@ "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", - "HP:0000069", - "UPHENO:0087070", - "UBERON:0002097", - "UPHENO:0015319", - "UPHENO:0082900", - "UBERON:0000948", - "UBERON:0002084", "UPHENO:0015327", "UBERON:0019221", + "UBERON:0002389", + "HP:0001654", + "HP:0030669", + "UBERON:0000117", + "UBERON:0034921", + "HP:0032039", + "UBERON:0010912", + "UPHENO:0086144", "HP:0000492", "UPHENO:0080382", "HP:0200006", "UBERON:0001474", "UPHENO:0063722", - "UBERON:0000117", - "UBERON:0034921", + "UPHENO:0021791", + "UBERON:0000179", "UPHENO:0003085", "GO:0030154", "UBERON:0004573", "UBERON:0015052", - "HP:0032039", - "HP:0030669", - "UBERON:0010912", - "UPHENO:0086144", - "UPHENO:0021791", - "UBERON:0000179", "UBERON:0000014", "UPHENO:0086680", "UPHENO:0076761", + "UBERON:0000965", + "UBERON:0005389", + "UBERON:0000477", + "HP:0000517", + "UPHENO:0086633", + "UBERON:0004119", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0088132", "HP:0000518", "HP:0001924", "UPHENO:0018424", - "UBERON:0000965", "UPHENO:0087578", - "UBERON:0005389", "HP:0000508", "GO:0048468", "UPHENO:0087214", "GO:0060562", "UPHENO:0041644", "UPHENO:0041667", - "UPHENO:0086699", + "UPHENO:0021517", "UBERON:0010913", + "UPHENO:0086699", "UBERON:0005726", "UPHENO:0086628", - "UPHENO:0021517", "UPHENO:0063621", "HP:0010978", "UPHENO:0086100", - "UPHENO:0003048", - "HP:0005105", - "HP:0011994", - "UPHENO:0002907", - "UPHENO:0084447", - "HP:0100790", - "HP:0010935", - "UBERON:0002268", + "UBERON:0010323", + "UPHENO:0087814", + "UBERON:0007832", "UPHENO:0085330", "UBERON:0003129", "UPHENO:0002642", "UBERON:0010740", "UBERON:0000004", - "UPHENO:0063595", - "HP:0000929", - "UBERON:0010323", - "UPHENO:0087814", - "UBERON:0007832", + "UPHENO:0003048", + "UBERON:0002268", "HP:0000415", "HP:0100547", "HP:0000144", - "UPHENO:0075852", - "HP:0000080", - "UBERON:0001008", - "UBERON:0012241", - "UPHENO:0002790", + "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:0010936", - "UBERON:8450002", - "HP:0000079", + "HP:0200005", + "UPHENO:0065599", "HP:0010438", "HP:0000118", "UPHENO:0005995", "UPHENO:0020068", "UBERON:0007830", - "HP:0200005", - "UPHENO:0065599", - "HP:0000252", - "HP:0003272", + "HP:0007364", + "UPHENO:0080079", + "HP:0012130", + "UBERON:0002405", + "NCBITaxon:2759", + "UPHENO:0079839", + "UPHENO:0021672", + "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:0080200", "HP:0100886", "UPHENO:0020888", - "UBERON:0001893", - "UPHENO:0087518", - "UPHENO:0075195", - "UBERON:0005899", - "UPHENO:0085984", - "CL:0000586", - "UBERON:0012359", - "HP:0004348", - "HP:0002715", - "UPHENO:0086045", - "UBERON:0001449", - "UBERON:0000178", - "HP:0011893", - "HP:0010987", - "HP:0004377", - "UPHENO:0063565", - "HP:0001392", + "HP:0000252", + "HP:0003272", "UPHENO:0088321", "UPHENO:0004459", "UPHENO:0003020", "UPHENO:0004536", "UPHENO:0003116", - "UBERON:0002390", + "HP:0004377", + "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", - "CL:0000255", - "CL:0000219", - "UPHENO:0002948", - "HP:0001881", - "UBERON:0003113", - "UPHENO:0041212", + "HP:0010987", + "HP:0011893", + "UBERON:0002390", "UPHENO:0085410", - "UPHENO:0001440", "UPHENO:0000541", "HP:0002031", "HP:0001373", "UBERON:0012476", "UPHENO:0000543", + "UPHENO:0001440", + "HP:0002624", + "UBERON:0002530", "UBERON:0002423", "UBERON:0002365", "UBERON:0002330", - "HP:0002012", - "UBERON:0015204", - "UPHENO:0080126", - "UBERON:0005172", - "UPHENO:0002803", - "HP:0000818", - "UPHENO:0084767", - "UBERON:0000916", "UBERON:0002417", "NBO:0000417", "HP:0000924", @@ -1604,26 +1576,38 @@ "UBERON:0002368", "CL:0000408", "UBERON:0005173", - "HP:0002624", - "UBERON:0002530", + "UBERON:0000916", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "HP:0002012", + "UBERON:0004092", "UPHENO:0002844", "UPHENO:0075995", - "UBERON:0004092", "UBERON:0000466", - "UBERON:0008785", - "UBERON:0000015", "UPHENO:0052675", "HP:0000316", + "UBERON:0008785", + "UBERON:0000015", "UPHENO:0042834", "UPHENO:0072195", "HP:0002814", "UBERON:0006800", "UPHENO:0049367", + "HP:0001197", + "UPHENO:0075949", + "UBERON:0000173", + "HP:0001562", + "NBO:0000313", + "HP:0002827", "UPHENO:0052231", "UPHENO:0081594", - "NCBITaxon:1", "UPHENO:0021474", "UPHENO:0087597", + "NCBITaxon:1", "UBERON:0002114", "UPHENO:0076748", "UBERON:0012152", @@ -1631,53 +1615,53 @@ "UBERON:0010696", "NBO:0000444", "UPHENO:0081344", - "UBERON:0000063", - "HP:0008056", - "UBERON:0007273", "HP:0002270", "UBERON:0015022", "UPHENO:0086866", "UBERON:0001445", - "HP:0011297", - "UBERON:0004248", "GO:0043473", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", "UBERON:0012142", "UBERON:0010758", "UBERON:0001890", "UPHENO:0081091", + "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", - "UPHENO:0087369", - "UPHENO:0082444", - "HP:0001639", - "UPHENO:0002896", - "UPHENO:0076806", + "UBERON:0010709", "HP:0040072", "UBERON:0004053", "UBERON:0001441", "UBERON:0015023", - "UPHENO:0081575", "UBERON:0001711", "UBERON:0003221", + "UPHENO:0087369", + "UPHENO:0081575", "UPHENO:0002964", "UPHENO:0088140", "UBERON:0006314", "UPHENO:0041821", + "UPHENO:0033603", + "UBERON:0001466", "HP:0100760", - "UBERON:0010709", - "UBERON:0005440", - "HP:0001882", - "UPHENO:0002905", - "UPHENO:0084654", - "UBERON:0001769", - "UBERON:5002544", - "UBERON:0000154", - "HP:0031653", - "UBERON:0004122", - "HP:0009826", - "UPHENO:0033616", - "HP:0001384", "CL:0000763", "UPHENO:0049586", "UBERON:0010742", @@ -1685,228 +1669,244 @@ "HP:0040068", "UBERON:0002470", "UBERON:0012139", - "HP:0001824", - "UBERON:0004709", - "UPHENO:0033603", - "UBERON:0001466", - "UBERON:0000978", - "UPHENO:0087123", - "HP:0000077", - "UBERON:0002199", "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:0034768", - "UPHENO:0081570", - "UPHENO:0076786", - "UBERON:0001703", - "UPHENO:0078215", - "UBERON:0002553", - "HP:0031816", - "UPHENO:0075843", - "HP:0000172", "UBERON:0012240", "UBERON:0001734", "UBERON:0005944", "UBERON:0000079", "UBERON:0001716", + "UBERON:0002553", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", "UBERON:0004089", "UPHENO:0088088", + "UBERON:0034768", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UPHENO:0081570", "HP:0008678", "HP:0012372", "UBERON:0005179", - "UPHENO:0080221", - "HP:0001034", - "HP:0012210", - "UPHENO:0059829", - "UPHENO:0074575", - "HP:0000309", - "UPHENO:0082682", + "UPHENO:0021670", + "HP:0000553", + "UPHENO:0041664", + "UPHENO:0086817", + "UBERON:0000063", + "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", + "HP:0000593", "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:0008053", - "UPHENO:0022529", - "UPHENO:0054957", - "UPHENO:0084511", - "UPHENO:0066927", - "UBERON:0010000", - "UBERON:0010230", - "HP:0011121", - "UPHENO:0080601", - "UPHENO:0086172", + "HP:0000309", + "UPHENO:0082682", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "UPHENO:0080601", + "UPHENO:0086172", "UPHENO:0074589", - "CL:0000225", - "UPHENO:0054970", - "UPHENO:0049940", - "UPHENO:0084761", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", "UBERON:0002384", "UBERON:0012141", - "CL:0000151", - "HP:0001510", - "HP:0001167", - "UPHENO:0085302", - "UPHENO:0080114", - "UPHENO:0084766", - "UPHENO:0080201", "UBERON:0003101", + "UPHENO:0080201", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0085371", + "UPHENO:0076723", "HP:0045060", + "CL:0000151", + "HP:0001510", + "HP:0001167", "HP:0008373", "HP:0005927", - "UPHENO:0085371", - "UPHENO:0076723", + "UPHENO:0084766", "UPHENO:0084653", "UBERON:0005451", "HP:0005922", "UPHENO:0082671", "UPHENO:0078179", + "UPHENO:0082835", "HP:0011849", "HP:0010469", "UBERON:0008202", "UPHENO:0082834", "HP:0004209", "UPHENO:0087203", - "UPHENO:0082835", "UBERON:0002412", "GO:0001503", - "HP:0011446", - "HP:0030084", + "HP:0009179", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", "HP:0000377", "HP:0004097", + "HP:0011446", + "HP:0030084", "UBERON:0012357", "UPHENO:0084842", "HP:0009824", - "UPHENO:0080369", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "UPHENO:0076736", - "HP:0009179", "UBERON:5003625", - "UBERON:0012180", - "UPHENO:0068971", - "UPHENO:0081790", - "HP:0200007", - "HP:0009821", + "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:0001001", - "UPHENO:0087892", - "UPHENO:0060026", - "HP:0001367", + "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", - "NBO:0000313", - "HP:0002827", - "UBERON:0000982", - "UBERON:0005913", - "UBERON:0001271", + "UBERON:0003463", + "UPHENO:0060026", + "HP:0001367", "UBERON:0003828", "UPHENO:0075945", - "UBERON:0003463", - "UPHENO:0086088", - "HP:0001903", - "UPHENO:0076767", - "UBERON:0001464", + "UPHENO:0001001", + "UPHENO:0087892", "UBERON:0008114", "UBERON:0007828", "UBERON:0003840", - "UPHENO:0087974", - "UBERON:0004770", - "HP:0002644", - "UBERON:5002389", - "UPHENO:0087558", "HP:0000271", "UBERON:0005893", + "UBERON:5002389", + "UPHENO:0087558", "UBERON:0001712", "UBERON:0001950", "UBERON:0003826", - "UBERON:0016526", - "UPHENO:0010795", - "UBERON:0001805", - "HP:0002251", - "UBERON:0004121", - "HP:0000525", - "UPHENO:0088183", - "UPHENO:0020258", - "UPHENO:0087121", - "UBERON:0002410" + "HP:0012331" ], "has_phenotype_closure_label": [ - "decreased biological_process in multicellular organism", "decreased qualitatively pigmentation in independent continuant", - "Hypopigmentation of the skin", - "decreased qualitatively biological_process 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 platelet", "abnormally decreased number of myeloid cell", - "abnormal blood cell", + "abnormally decreased number of platelet", "abnormal platelet", "anucleate cell", "secretory cell", + "abnormal blood cell", "obsolete cell", "Abnormality of chromosome stability", "Abnormal cellular physiology", - "decreased size of the multicellular organism", "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", - "cellular developmental process", - "abnormal erythroid lineage cell morphology", "erythroid lineage cell", - "Sideroblastic anemia", - "Abnormal myeloid cell morphology", + "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", - "abnormal erythrocyte morphology", - "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", "homeostasis of number of cells", - "oxygen accumulating cell", - "Anemia of inadequate production", - "radius bone", + "cellular developmental process", "Abnormal morphology of the radius", - "aplasia or hypoplasia of radius bone", "abnormal radius bone morphology", + "aplasia or hypoplasia of radius bone", + "radius bone", "Neurodevelopmental delay", - "abnormal size of palpebral fissure", "decreased length of palpebral fissure", "Abnormal size of the palpebral fissures", - "Abnormality of immune system physiology", + "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", @@ -1920,178 +1920,167 @@ "abnormally decreased functionality of the gonad", "Cleft palate", "Craniofacial cleft", - "increased height of the anatomical entity", "increased height of anatomical entity in independent continuant", + "increased height of the anatomical entity", "High palate", - "Increased head circumference", "increased size of the head", + "Increased head circumference", + "skin of head", "increased length of the epicanthal fold", - "upper eyelid", - "zone of skin", "Epicanthus", - "skin of head", "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", - "abnormal facial skeleton morphology", - "Hypoplastic facial bones", + "mandible hypoplasia", + "bone element hypoplasia in face", + "decreased size of the mandible", + "bone of lower jaw", + "lower jaw region", "facial skeleton", "facial bone", "mandible", - "anatomical entity hypoplasia in face", - "bone of lower jaw", - "mandible hypoplasia", - "abnormal mandible morphology", "Abnormal mandible morphology", - "lower jaw region", "facial bone hypoplasia", - "decreased size of the mandible", - "bone element hypoplasia in face", + "anatomical entity hypoplasia in face", + "abnormal mandible morphology", + "Hypoplastic facial bones", + "abnormal facial skeleton morphology", "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "decreased sensory perception of sound", "sloped forehead", "sensory perception of mechanical stimulus", - "decreased sensory perception of sound", "abnormal sensory perception of sound", - "Hearing abnormality", "sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", "decreased qualitatively sensory perception of sound", "Abnormal conjugate eye movement", "Strabismus", - "sensory perception of light stimulus", - "abnormal sensory perception of light stimulus", "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", - "Abnormality of globe size", - "Abnormality of eye movement", "cranial nerve related reflex", - "Abnormal vestibulo-ocular reflex", "Abnormal vestibular function", + "Abnormality of eye movement", "abnormality of ear physiology", + "eye movement", "abnormal eye movement", "abnormal physiologic nystagmus", - "eye movement", "abnormal vestibulo-ocular reflex", - "shape uterus", - "abnormal uterus", - "female organism", + "Abnormal vestibulo-ocular reflex", "internal female genitalia", "abnormal internal female genitalia morphology", - "Abnormality of the female genitalia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "female organism", + "abnormal uterus", "abnormal female reproductive system", - "oviduct", "bicornuate anatomical entity", - "uterus", + "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", - "Abnormality of thumb phalanx", - "manual digitopodium bone", - "manual digit 1 phalanx", - "digit 1", + "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", - "manual digit 1 digitopodial skeleton", - "abnormal visual perception", - "abnormal phalanx of manus morphology", - "abnormal manual digit 1 morphology", - "Triphalangeal thumb", - "manual digit 1", "abnormal female reproductive system morphology", "digit 1 digitopodial skeleton", "skeleton of manual acropodium", "skeleton of manual digitopodium", - "Bicornuate uterus", - "abnormal behavior", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", "body part movement", "neuromuscular process", "voluntary musculoskeletal movement", "kinesthetic behavior", - "increased qualitatively response to stimulus", - "abnormal voluntary musculoskeletal movement", - "Hyperreflexia", - "reflex", + "multicellular organismal movement", "Abnormality of movement", + "abnormal voluntary musculoskeletal movement", "Recurrent urinary tract infections", "involuntary movement behavior", - "multicellular organismal movement", + "Bicornuate uterus", + "abnormal behavior", + "Hyperreflexia", + "increased qualitatively response to stimulus", + "reflex", "abnormal response to external stimulus", "decreased embryo development", "abnormal embryo development", - "Abnormal umbilicus morphology", - "Hernia", - "Hernia of the abdominal wall", + "herniated abdominal wall", "Abnormality of connective tissue", - "abnormal umbilicus morphology", - "abnormal incomplete closing of the abdominal wall", "Abnormality of the abdominal wall", + "Hernia", + "herniated anatomical entity", + "Hernia of the abdominal wall", + "Abnormal umbilicus morphology", "umbilicus", "connective tissue", - "herniated anatomical entity", - "herniated abdominal wall", - "response to external stimulus", - "Abnormality of the amniotic fluid", - "abnormal amniotic fluid", - "Abnormality of prenatal development or birth", - "Renal insufficiency", - "late embryo", - "Oligohydramnios", - "amniotic fluid", + "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", - "abnormal cardiac atrium morphology", - "abnormal interatrial 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", - "interventricular septum", "abnormal hematopoietic cell morphology", "Abnormal connection of the cardiac segments", - "abnormally increased volume of anatomical entity", "Ventricular hypertrophy", "abnormal pulmonary valve morphology", - "Global developmental delay", - "reflexive behavior", - "Right ventricular hypertrophy", - "cardiac septum", + "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", - "abnormal cardiac septum morphology", - "hypertrophic cardiac ventricle", "hypertrophic heart right ventricle", + "heart layer", "Abnormal myocardium morphology", "layer of muscle tissue", "abnormal myocardium morphology", - "heart layer", "abnormal abdominal wall", "embryonic cardiovascular system", "heart vasculature", "response to stimulus", "ductus arteriosus", - "abnormal coronary vessel morphology", "abnormal number of anatomical enitites of type myeloid cell", "thoracic segment blood vessel", "coronary vessel", - "Patent ductus arteriosus", - "decreased pigmentation in multicellular organism", - "Congenital malformation of the great arteries", + "abnormal coronary vessel morphology", "aplasia or hypoplasia of mandible", "trunk blood vessel", "abnormal incomplete closing of the ductus arteriosus", @@ -2100,187 +2089,175 @@ "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", - "aorta", "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", - "shape longitudinal arch of pes", "Pes planus", "flat anatomical entity", - "abnormally fused anatomical entity and pedal digit", "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", - "neurocranium bone", "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", - "neurocranium", - "cranial bone", - "bone of craniocervical region", - "intramembranous bone", - "membrane bone", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal head bone morphology", - "abnormal shape of frontal cortex", - "abnormality of internal ear physiology", - "abnormal tetrapod frontal bone morphology", "abnormal vault of skull", - "Puberty and gonadal disorders", - "central nervous system cell part cluster", - "lobe of cerebral hemisphere", - "cerebral hemisphere", + "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", - "Abnormal form of the vertebral bodies", - "outflow part of left ventricle", "vertebral column", - "vertebra", + "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 neural tube 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", - "tube formation", - "neural tube", - "presumptive structure", "Abnormality of the inner ear", "abnormal vertebral column morphology", - "face", - "aplasia or hypoplasia of manual digit", - "Abnormality of the vasculature", - "non-functional anatomical entity", - "Abnormal vertebral morphology", - "Vertebral arch anomaly", + "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 systemic arterial system morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal common carotid artery plus branches morphology", - "jaw region", - "artery", - "abnormal anatomical entity 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", - "Abnormality of the orbital region", - "roof of mouth", "paralysed cranial nerve", - "Abnormal cranial nerve physiology", - "male germ cell", - "Aplasia/Hypoplasia of the uvula", - "Ocular anterior segment dysgenesis", - "decreased height of the multicellular organism", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal neocortex morphology", - "decreased biological_process", - "Eukaryota", - "Eumetazoa", - "Aplasia/Hypoplasia affecting the uvea", - "anterior uvea", - "vestibulo-auditory system", - "Abnormal right ventricle morphology", - "Clinodactyly", - "cranial neuron projection bundle", - "Abdominal wall defect", - "Almond-shaped palpebral fissure", - "Clubbing", - "head bone", - "shape digit", - "multi-tissue structure", - "bodily fluid", - "abnormal peripheral nervous system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "appendage girdle complex", - "subdivision of head", - "Abnormal calvaria morphology", - "abnormal skeletal system", - "Abnormal morphology of ulna", - "Aplasia/Hypoplasia of the iris", - "mouth", - "spinal cord", - "appendicular skeleton", - "limb skeleton subdivision", - "Abnormal cell morphology", - "Abnormal palate morphology", - "forelimb long bone", - "abnormal size of skull", - "limb segment", - "abnormally formed anatomical entity", - "absent sperm", + "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", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "Abnormality of the skeletal system", - "Overriding aorta", - "trachea", - "Deviation of finger", - "Abnormality of limbs", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "appendage girdle complex", + "subdivision of head", "ulna endochondral element", "abnormal shape of cornea", "abnormal forebrain morphology", - "abnormal limb long bone morphology", - "eukaryotic cell", - "abnormal zone of skin morphology", - "pedal digitopodium bone", - "neural tube formation", - "anatomical conduit", - "abnormally formed anterior chamber of eyeball", - "Anal atresia", - "postcranial axial skeletal system", - "Clubbing of toes", - "Abnormal uvea 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", - "zeugopod", - "skeletal element", + "Abnormal forebrain morphology", "paired limb/fin", - "abnormal semi-lunar valve morphology", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "bone element", - "pectoral appendage", - "deviation of manual digit 5 towards the middle", - "abnormal digestive system morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", "septum", "Abnormality of limb bone morphology", - "Abnormal forearm bone morphology", - "root", - "Abnormal forebrain morphology", "developing anatomical structure", "skeleton of limb", "forelimb zeugopod skeleton", @@ -2288,51 +2265,75 @@ "subdivision of oviduct", "limb bone", "pectoral appendage skeleton", - "Abnormal blood vessel morphology", - "cardiovascular system", - "blood vasculature", - "tube development", - "acropodium region", - "blood vessel", - "germ cell", - "outflow tract", - "Umbilical hernia", - "Arteriovenous malformation", - "abnormal connective tissue", - "Abnormal eye morphology", + "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 vasculature", - "abnormal genitourinary system", - "abnormal musculoskeletal movement", - "changed developmental process rate", "abnormal cardiovascular system", "Abnormal reproductive system morphology", "abnormal blood vessel morphology", "abnormal parasympathetic nervous system morphology", "abnormal embryo morphology", "Abnormal venous morphology", - "Aplasia/Hypoplasia affecting the eye", "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", - "Abnormality of the forehead", - "intromittent organ", + "Abnormal jaw morphology", + "Meckel diverticulum", + "irregular bone", "organism", "secondary palate", - "penis", - "Orofacial cleft", - "digestive system element", "autopod bone", "Neurodevelopmental abnormality", "manual digit phalanx endochondral element", @@ -2342,30 +2343,11 @@ "abnormal cardiovascular system morphology", "Abnormality of mental function", "nervous system process", - "Abnormal toe phalanx morphology", - "arch of centrum of vertebra", - "Metazoa", - "abnormal parasympathetic ganglion morphology", - "abnormality of internal male genitalia physiology", - "decreased length of forelimb zeugopod bone", - "limb endochondral element", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormal cerebral ventricle morphology", - "structure with developmental contribution from neural crest", - "abnormal nervous system morphology", - "abnormal central nervous system morphology", + "skeleton of digitopodium", "Abnormal preputium morphology", - "Neural tube defect", - "organ system subdivision", - "Aplasia/Hypoplasia involving bones of the skull", - "tissue morphogenesis", - "abnormal brain ventricle morphology", - "skeletal joint", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", "forelimb bone", "Abnormal uvula morphology", - "abnormally increased number of anatomical entity", + "abnormal central nervous system morphology", "ventricular system of central nervous system", "Abnormal shape of the frontal region", "central nervous system", @@ -2376,6 +2358,14 @@ "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", @@ -2383,53 +2373,56 @@ "abnormal heart layer morphology", "Abnormal frontal bone morphology", "Abnormality of lower limb joint", - "Recurrent infections", - "Morphological central nervous system abnormality", - "organ component layer", + "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", - "cerebrospinal fluid", "abnormal nervous system", - "abnormally fused pedal digit and pedal digit", - "future central nervous system", - "nervous system development", - "abnormal manual digit morphology in the manus", - "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", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal voluntary movement behavior", - "tissue", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "subdivision of organism along appendicular axis", - "Abnormal male reproductive system physiology", - "abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", + "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", - "sexual reproduction", - "abnormal synovial joint of pelvic girdle morphology", - "embryo", - "Absent testis", - "exocrine system", - "Abnormality of the genitourinary system", - "Abnormality of the outer ear", - "abnormal gamete", - "quality", "phenotype by ontology source", "Abnormality of the male genitalia", "Abnormality of blood and blood-forming tissues", @@ -2439,150 +2432,57 @@ "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", - "anatomical system", - "upper digestive tract", - "dorsum", - "cranial nerve", - "testis", - "reproductive structure", - "abnormal ulna morphology", - "gonad", - "Decreased anatomical entity mass density", - "ganglion", - "abnormal shape of external ear", - "opaque lens of camera-type eye", - "epithelial tube", - "Finger clinodactyly", - "iris", - "absent gamete", - "naris", - "mesoderm-derived structure", - "abnormal male reproductive system morphology", - "Abnormality of the gastrointestinal tract", - "internal male genitalia", - "digestive system", - "curved anatomical entity", - "decreased length of long bone", - "material entity", - "increased reflex", - "long bone", + "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", - "system process", - "male gamete", - "cell differentiation", - "abnormal cerebral cortex morphology", - "abnormal arch of centrum of vertebra", - "bone of appendage girdle complex", - "anatomical wall", - "abnormality of anatomical entity height", - "abnormal heart right ventricle morphology", - "neural crest-derived structure", - "epithelial tube formation", - "asymmetrically curved cornea", - "hindlimb", - "continuant", - "Intrauterine growth retardation", - "abnormal cornea morphology", - "entire sense organ system", - "lower urinary tract", - "Abnormality of globe location", - "Tracheoesophageal fistula", - "Abnormal cardiac atrium morphology", - "Neoplasm", - "Abnormal intestine morphology", - "organ", - "pedal digit plus metapodial segment", - "occurrent", - "abnormal male reproductive organ morphology", - "pedal digit phalanx endochondral element", - "integumental system", - "semen", - "abnormality of anatomical entity physiology", - "multicellular organismal reproductive process", - "Abnormality of the head", - "heart", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "sensory system", - "absent sperm in the independent continuant", - "pelvic region element", - "abnormal systemic artery morphology", - "male organism", - "abnormal hindlimb joint", - "reproduction", - "vessel", - "lateral structure", - "Microphthalmia", - "absent anatomical entity in the multicellular organism", - "Abnormal nasal morphology", - "postcranial axial skeleton", - "abnormal vein morphology", - "abnormal external ear morphology", - "decreased qualitatively developmental process", - "camera-type eye", - "All", - "Abnormal bone structure", - "male reproductive organ", - "abnormal blood cell morphology", - "abnormal cell", - "disconnected anatomical group", - "upper limb segment", - "biological_process", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "Abnormal facial shape", - "tube morphogenesis", - "leukocyte", - "delayed biological_process", - "systemic artery", - "organism substance", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "ear", - "transudate", - "Abnormal joint morphology", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal leukocyte morphology", - "Abnormal respiratory system physiology", - "multicellular organismal process", - "bone of pelvic complex", - "organ part", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "neuron projection bundle", - "Abnormal spinal cord morphology", - "external male genitalia", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "independent continuant", - "anatomical line between pupils", - "abnormal number of anatomical enitites of type anatomical entity", - "forelimb skeleton", - "immune system", - "endocrine system", - "decreased qualitatively reproductive process", - "gamete generation", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "bone of pectoral complex", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "hepatobiliary system", - "subdivision of skeletal system", - "Abnormal external genitalia", "pulmonary valve", "cellular organisms", "vertebral element", @@ -2590,54 +2490,144 @@ "bone of free limb or fin", "abnormal pedal digit morphology", "abnormal ear", - "Abnormality of reproductive system physiology", - "abnormal size of head", - "abnormal external genitalia", - "radius endochondral element", - "Abnormal renal morphology", - "abnormal gamete generation", - "Abnormality of the curvature of the cornea", + "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", - "limb", - "respiratory system", - "hip joint", + "abnormal peripheral nervous system morphology", + "bodily fluid", + "multi-tissue structure", "abnormal ear morphology", "abnormal number of anatomical enitites of type sperm", - "Abnormality of the cardiovascular system", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "dorsal region element", - "abnormal opening of the anatomical entity", + "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", - "multicellular anatomical structure", - "hematopoietic system", "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", - "internal genitalia", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "abnormality of respiratory system physiology", - "prepuce of penis", - "concave 3-D shape anatomical entity", - "abnormal heart left ventricle morphology", - "leg bone", - "abnormal tracheobronchial tree morphology", "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "Abnormal ear morphology", - "abnormal craniocervical region", - "manual digit digitopodial skeleton", - "flat anatomical entity in independent continuant", - "cardiac ventricle", - "abnormal internal genitalia", - "ocular surface region", + "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", @@ -2648,80 +2638,24 @@ "anus atresia", "abnormal skull morphology", "Short long bone", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal aorta morphology", - "increased pigmentation in skin of body", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal cellular phenotype", - "neural tube development", - "external genitalia", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "abnormal limb bone morphology", - "tunica fibrosa of eyeball", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "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", - "Proptosis", - "changed embryo development rate", - "hindlimb stylopod", - "Abnormal esophagus morphology", - "Anemia", - "morphological feature", - "Abnormality of metabolism/homeostasis", - "forelimb zeugopod", - "abnormal testis morphology", - "reproductive process", - "abnormally formed anatomical entity in independent continuant", - "body proper", - "abnormal respiratory tube morphology", - "Abnormal morphology of female internal genitalia", - "anatomical cluster", - "blood", - "phenotype", - "abnormal pigmentation in independent continuant", - "Abnormal involuntary eye movements", - "Abnormal tracheal morphology", - "process", + "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", - "Abnormality of the nose", - "developmental process involved in reproduction", "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", "aplasia or hypoplasia of anatomical entity", "limb long bone", "compound organ", "eye", - "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 anterior uvea morphology", - "decreased size of the eyeball of camera-type eye", - "absent anatomical entity", - "cerebral cortex", - "tracheobronchial tree", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the peripheral nervous system", - "trunk region element", - "skeleton of pectoral complex", - "specifically dependent continuant", - "abnormal autonomic nervous system morphology", - "ganglion of peripheral nervous system", + "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", @@ -2729,53 +2663,129 @@ "Short palpebral fissure", "Abnormal skeletal morphology", "increased pigmentation", - "decreased spermatogenesis", - "anatomical structure development", - "arterial blood vessel", - "abnormal bone element mass density", - "main body axis", - "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", - "external soft tissue zone", - "digit plus metapodial segment", - "head", + "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", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormal heart morphology", - "appendage girdle region", - "anatomical structure morphogenesis", - "abnormal limb bone", - "abnormal spinal cord morphology", - "Hypogonadism", - "arm bone", - "urethral opening", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "sense organ", + "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", - "abnormality of camera-type eye physiology", - "organism subdivision", "subdivision of digestive tract", "Abnormal pinna morphology", - "abnormally protruding anatomical entity", - "abnormal respiratory system morphology", - "respiratory airway", - "abnormal secondary palate 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", @@ -2787,28 +2797,45 @@ "anterior chamber of eyeball", "abnormal development of anatomical entity", "increased biological_process", - "abnormal postcranial axial skeleton morphology", - "Abnormal ventriculoarterial connection", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", - "Growth delay", - "kidney", - "embryo development", - "brain gray matter", - "Abnormal tracheobronchial morphology", + "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", - "Abnormality of the respiratory system", - "girdle skeleton", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "segment of autopod", + "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", @@ -2816,10 +2843,6 @@ "Short stature", "Abnormality of the vertebral column", "abnormal digestive system", - "Abnormality of the digestive system", - "decreased anatomical entity mass", - "Abnormal morphology of the great vessels", - "pectoral complex", "flat longitudinal arch of pes", "abnormal bone of pectoral complex morphology", "orifice", @@ -2827,6 +2850,27 @@ "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", @@ -2842,192 +2886,121 @@ "Aplasia/Hypoplasia of the testes", "left cardiac chamber", "Slanting of the palpebral fissure", - "Hip dislocation", - "Morphological abnormality of the gastrointestinal tract", - "oral cavity", - "vestibulo-ocular reflex", - "neocortex", - "Abnormality of refraction", - "digit 5", - "abnormal long bone morphology", - "digitopodium bone", - "endoderm-derived structure", - "abnormal penis", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal artery morphology", - "respiratory tract", - "respiratory tube", - "glans", - "abnormality of male reproductive system physiology", - "tube", - "brain ventricle", - "future nervous system", - "skeleton", - "multicellular organism", - "thoracic cavity element", - "Nystagmus", - "esophagus", - "physiologic nystagmus", - "hemolymphoid system", - "Lower extremity joint dislocation", - "lower respiratory tract", - "visual system", - "abnormal camera-type eye morphology", + "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", "orbital region", - "multicellular organism development", - "Ventriculomegaly", - "Abnormal anterior eye segment morphology", - "abnormal anatomical entity", - "Abnormality of the upper urinary tract", - "abnormal bony vertebral centrum morphology", "abnormal alimentary part of gastrointestinal system", "Abnormal carotid artery morphology", "Astigmatism", - "circulatory organ", - "uvea", - "shape cornea", - "paired limb/fin segment", "pelvic girdle region", - "simple eye", + "paired limb/fin segment", + "multicellular organism development", + "Ventriculomegaly", "abnormal posterior nasal aperture morphology", "curvature anatomical entity", + "abnormal camera-type eye morphology", "abnormal orbital region", - "morphogenesis of an epithelium", - "epithelial tube morphogenesis", - "abnormal palpebral fissure", - "abnormal tube formation", - "circulatory system", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "multicellular organismal-level homeostasis", - "anterior segment of eyeball", - "chordate embryonic development", - "skeleton of digitopodium", - "embryonic epithelial tube formation", - "cranium", - "dermatocranium", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "joint of girdle", - "neural tube closure", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "manus", - "abnormal nose morphology", - "embryonic tissue", - "ileum", - "Ventricular septal defect", - "small intestine", - "Abnormal jaw morphology", - "irregular bone", - "Meckel diverticulum", - "trunk bone", - "Azoospermia", - "Abnormal small intestine morphology", - "skeleton of lower jaw", - "abnormal small intestine", + "abnormal bony vertebral centrum morphology", + "simple eye", "anus", "Abnormal skull morphology", - "Abnormal anus morphology", - "Abnormal ear physiology", - "ecto-epithelium", - "abnormal closing of the anatomical entity", - "abnormal anus", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", "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", - "Weight loss", - "Decreased body weight", - "autopodial extension", "growth", "cardiac valve", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal craniocervical region morphology", - "abnormal growth", - "pelvic complex", - "Abnormality of the skin", - "outflow tract of ventricle", - "Abnormality of the choanae", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", + "Decreased body weight", + "autopodial extension", "abnormal forelimb zeugopod bone", "valve", - "abnormal platelet morphology", - "abnormal anatomical entity morphology in the manus", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "thoracic cavity blood vessel", - "aortic valve", - "abnormal internal ear", - "abnormal outflow part of left ventricle morphology", - "abnormal anatomical entity morphology in the heart", - "curvature anatomical entity in independent continuant", - "hypothalamus-pituitary axis", "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", "gamete", "upper jaw region", - "Abnormal eyelid morphology", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "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", - "palpebral fissure", "Abnormal ocular adnexa morphology", - "Upslanted palpebral fissure", - "manual digit plus metapodial segment", - "Abnormal bone ossification", + "Abnormal eyelid morphology", "female reproductive organ", "ocular adnexa", - "obsolete multicellular organism reproduction", - "decreased developmental process", - "Abnormality of the palpebral fissures", - "Abnormal testis morphology", - "deviation of anatomical entity towards the middle", - "opaque anatomical entity", + "palpebral fissure", + "abnormal lens of camera-type eye morphology", + "Cataract", "heart right ventricle", "increased size of the anatomical entity", "lens of camera-type eye", - "Cataract", - "abnormal lens of camera-type eye morphology", - "Atrial septal defect", - "drooping anatomical entity", + "opaque anatomical entity", "clavate digit", "shape eyelid", + "Atrial septal defect", + "drooping anatomical entity", "Ptosis", "Abnormal cornea morphology", "gland", - "abnormal artery morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal penis morphology", - "abnormal cranium morphology", "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", + "cranial skeletal system", + "nose", + "endocrine gland", + "sperm", + "internal naris", "Neoplasm by anatomical site", "olfactory system", "Abnormality of the nervous system", @@ -3036,81 +3009,66 @@ "bony vertebral centrum", "abnormal olfactory system morphology", "abnormal nose", - "sperm", - "internal naris", - "olfactory organ", - "cranial skeletal system", - "nose", - "endocrine gland", - "posterior nasal aperture", - "decreased size of the anatomical entity in the pectoral complex", - "musculature of body", - "nerve of head region", - "internal naris atresia", "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", - "excretory system", - "abnormal urethra", - "renal system", "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", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Abnormality of the urethra", - "abnormal limb", - "immaterial entity", - "Abnormality of the lower urinary tract", "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", - "Scoliosis", "Abnormal curvature of the vertebral column", - "tube closure", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "autopod region", - "Abnormal forearm morphology", - "Abnormality of enteric nervous system morphology", + "Scoliosis", + "root", "regional part of nervous system", "Abnormal midface morphology", - "Deviation of the 5th finger", - "regional part of brain", - "Visual impairment", - "ulna", - "abdomen", - "deviation of manual digit towards the middle", - "Abnormal vascular morphology", - "Abnormality of skull size", + "Decreased head circumference", + "Metazoa", + "abnormal parasympathetic ganglion morphology", "Abnormal pulmonary valve morphology", - "abnormal anterior chamber of eyeball morphology", "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal anterior chamber of eyeball morphology", "telencephalon", - "Decreased head circumference", + "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", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", "abnormality of renal system physiology", "abnormal esophagus morphology", "abnormal size of anatomical entity", - "Leukopenia", - "abnormal hematopoietic system", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "semi-lunar valve", - "hematopoietic cell", - "nucleate cell", - "abnormal uvea morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal number of anatomical enitites of type hematopoietic cell", "digit 1 plus metapodial segment", "synovial joint", "Abnormality of the anus", @@ -3119,26 +3077,32 @@ "abnormally decreased number of cell", "Functional abnormality of the inner ear", "pedal digit", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", + "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", - "abnormally decreased number of anatomical entity in the multicellular organism", - "digit 5 plus metapodial segment", - "Myelodysplasia", + "haemolymphatic fluid", + "abnormal hematopoietic system", + "delayed growth", "abnormal immune system morphology", "Hematological neoplasm", "Reduced bone mineral density", - "abnormal size of brain ventricle", - "nerve", - "Frontal bossing", - "zone of organ", - "increased size of the brain ventricle", + "Myelodysplasia", "Abnormality of vision", "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", @@ -3147,43 +3111,63 @@ "pedal digit bone", "cardiac atrium", "Abnormality of the integument", - "delayed growth", + "abnormal size of brain ventricle", + "zone of organ", + "increased size of the brain ventricle", + "liver", + "abnormal endocrine system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", "Abnormality of the endocrine system", "forelimb", "skeleton of pelvic complex", - "abnormal endocrine system", "abdominal segment of trunk", "Conotruncal defect", "digestive system gland", "musculoskeletal system", "abdominal segment element", - "glandular system", - "jaw skeleton", - "abnormal uterus morphology", - "hindlimb bone", - "exocrine gland", - "Decreased fertility", + "Abnormality of the liver", "behavior", "abdomen element", - "Abnormality of the liver", - "liver", + "glandular system", "abnormal hypothalamus-pituitary axis", - "increased anatomical entity length in independent continuant", - "Hypertelorism", + "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", + "Hypertelorism", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", "immaterial anatomical entity", "abnormal anatomical entity, curved", "anatomical line", - "non-material anatomical boundary", - "abnormal anatomical entity topology in independent continuant", - "abnormal anatomical entity length", + "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", - "duodenum", - "Abnormality of the lower limb", + "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", @@ -3192,73 +3176,104 @@ "skeleton of pes", "abnormal incomplete closing of the interventricular septum", "Abnormal toe morphology", - "pes", - "abnormal phalanx morphology", - "Choanal atresia", - "acropodial skeleton", - "digitopodium region", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", "Duodenal stenosis", "Abnormal foot morphology", "Hypermelanotic macule", - "digit", - "abnormal hindlimb morphology", - "clavate anatomical entity", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "abnormal digit morphology", - "shape forehead", - "posterior region of body", - "individual digit of digitopodial skeleton", - "phalanx endochondral element", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal digit", "leg", "abnormally decreased number of anatomical entity in the blood", "phalanx of pes", + "abnormal long bone morphology", + "digitopodium bone", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", "phalanx", - "abnormal skeletal system morphology", - "lower limb segment", - "abnormal autopod region morphology", - "nervous system cell part layer", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", "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", + "digitopodium region", "genitourinary system", "Limb undergrowth", - "Abnormality of the kidney", "abnormal kidney morphology", "skull", "femur", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormality of the kidney", "Decreased fertility in males", - "primary circulatory organ", - "aplasia or hypoplasia of palatine uvula", - "abnormal joint of girdle morphology", + "prominent anatomical entity", + "abnormal roof of mouth morphology", "anatomical projection", + "abnormal midface morphology", + "mouth", + "Aplasia/Hypoplasia of the iris", + "Abnormal oral cavity morphology", "Abnormal aortic valve morphology", "midface", "abnormal soft palate morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", "Abnormal soft palate morphology", "shape palpebral fissure", "abnormal palatine uvula morphology", "anatomical cavity", - "abnormal midface morphology", - "palatine uvula", - "Abnormal erythrocyte morphology", - "soft palate", - "abnormal oral cavity morphology", - "Abnormal oral cavity morphology", - "abnormal asymmetry of face", - "abnormal integument", + "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", + "Abnormal hip joint morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "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", "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", @@ -3269,78 +3284,66 @@ "abnormal cell morphology", "anatomical collection", "Macule", + "abnormal cornea, curved", + "pigmentation", "eyeball of camera-type eye", "abnormal upper urinary tract", "abnormal skin of body", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "limb joint", - "Hyperpigmentation of the skin", "Abnormality of skin morphology", - "integument", "abnormality of kidney physiology", "changed biological_process rate in independent continuant", - "increased biological_process in independent continuant", - "ulna hypoplasia", - "increased biological_process in skin of body", - "abnormal cornea, curved", - "pigmentation", - "increased pigmentation in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal manus", + "abnormal manus morphology", + "Aplasia/hypoplasia involving bones of the hand", "skeleton of manus", + "Aplasia/Hypoplasia of fingers", "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "bone of hip region", - "Aplasia/hypoplasia of the extremities", - "Aplasia/Hypoplasia of fingers", - "abnormal manus", "decreased pigmentation in skin of body", "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/hypoplasia involving the skeleton", - "abnormal manus morphology", "vascular system", "abnormal anterior segment of eyeball morphology", "aplasia or hypoplasia of skeleton", + "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", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", "appendage", "abnormally fused digit and digit", "Clinodactyly of the 5th finger", - "anatomical space", - "abnormally fused anatomical entity and anatomical entity", - "biogenic amine secreting cell", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "biogenic amine secreting cell", "ossification", "Abnormality of bone mineral density", - "manual digit 5", "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", "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", - "deviation of digit towards the middle", - "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 manual digit", - "paired limb/fin skeleton", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", + "manual digit 5", "hypertrophic multicellular anatomical structure", "dermal skeletal element", "decreased length of anatomical entity in independent continuant", - "decreased height of the anatomical entity", - "Abnormality of the eye", - "decreased size of the ulna", - "forelimb zeugopod bone hypoplasia", + "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", @@ -3348,108 +3351,115 @@ "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", "increased height of the secondary palate", "Tetralogy of Fallot", "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "articulation", - "skeletal joint dislocation", - "articular system", - "peripheral nervous system", - "abnormal hip joint morphology", - "pelvic girdle skeleton", - "pelvic girdle bone/zone", - "systemic arterial system", - "Abnormal cerebral morphology", - "Joint dislocation", + "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", - "skin of body", + "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", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "abnormal external ear", - "girdle bone/zone", - "abnormal jaw skeleton morphology", - "Abnormality of the face", - "synovial joint of pelvic girdle", - "abnormal hindlimb stylopod morphology", - "Abnormality of femur 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", - "stylopod", - "upper leg bone", + "Abnormality of femur morphology", "Abnormality of enteric ganglion morphology", - "Unusual infection", - "abnormal enteric ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "enteric ganglion", + "abnormal intestine morphology", "abnormal face morphology", "axial skeletal system", - "abnormal intestine morphology", "autonomic ganglion", - "parasympathetic nervous system", - "Abnormality of the autonomic nervous system", - "autonomic nervous system", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", + "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 vascular system morphology", - "cortex of cerebral lobe", - "abnormal frontal cortex morphology", - "tetrapod frontal bone", - "abnormal roof of mouth morphology", - "prominent anatomical entity" + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "Abnormal autonomic nervous system morphology" ], "has_phenotype_count": 106, "highlight": null, "score": null }, { - "id": "MONDO:0060778", + "id": "MONDO:0001083", "category": "biolink:Disease", - "name": "adult Fanconi syndrome", + "name": "Fanconi renotubular 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 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.", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], + "synonym": [ + "De toni-Fanconi syndrome", + "De toni-debre-Fanconi syndrome", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", + "Lignac-Fanconi syndrome", + "adult Fanconi syndrome", + "congenital Fanconi syndrome", + "deToni Fanconi syndrome", + "infantile nephropathic cystinosis", + "toni-debre-Fanconi syndrome" + ], "uri": null, "iri": null, "namespace": "MONDO", - "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_closure": [ - "HP:0003581", - "HP:0012823", - "HP:0000001", - "HP:0003674", - "HP:0031797" - ], - "has_phenotype_closure_label": [ - "Clinical course", - "All", - "Adult onset", - "Clinical modifier", - "Onset" - ], - "has_phenotype_count": 1, + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": null, "score": null }, @@ -3490,472 +3500,462 @@ "Multiple cutaneous malignancies" ], "has_phenotype_closure": [ - "HP:0001574", + "HP:0002664", "UBERON:0004121", - "HP:0007606", - "HP:0011793", + "UPHENO:0002635", "UBERON:0002097", "UBERON:0002199", "UBERON:0002416", - "HP:0002664", - "UPHENO:0002635", + "HP:0001574", + "HP:0007606", + "HP:0011793", + "UBERON:0000479", + "UPHENO:0084987", + "UPHENO:0011498", + "HP:0025354", + "UPHENO:0085118", + "UPHENO:0086172", + "UPHENO:0085144", + "HP:0001876", + "UBERON:0002371", "UPHENO:0085302", "HP:0032251", - "HP:0001876", - "UPHENO:0085195", - "UPHENO:0084928", - "UPHENO:0076675", "CL:0002242", - "UPHENO:0086005", - "CL:0000219", "CL:0001035", "UBERON:0002193", "CL:0000225", - "CL:0000255", - "UPHENO:0011498", - "HP:0025354", - "CL:0000151", "HP:0011873", - "UBERON:0002371", - "UPHENO:0087123", - "HP:0011842", - "UPHENO:0063722", + "CL:0000151", + "CL:0000255", + "UPHENO:0077426", + "UPHENO:0086173", + "HP:0011893", + "HP:0020047", + "UPHENO:0085195", "HP:0001872", - "HP:0012145", - "UPHENO:0084987", + "UPHENO:0063722", + "CL:0000219", + "UPHENO:0086005", + "UPHENO:0084928", "UPHENO:0085068", "UPHENO:0006910", "UPHENO:0086049", - "UPHENO:0085118", - "UPHENO:0086172", - "UBERON:0000479", + "UPHENO:0085984", + "UPHENO:0076675", + "CL:0000232", + "CL:0000458", + "CL:0000763", + "CL:0000738", + "UPHENO:0086045", "HP:0005561", "UPHENO:0087355", + "UPHENO:0087123", + "HP:0011842", + "CL:0002092", + "HP:0012145", + "CL:0000233", + "UPHENO:0004459", "HP:0011875", "UPHENO:0088166", "UPHENO:0076703", - "CL:0002092", - "UPHENO:0085144", - "HP:0011893", - "HP:0020047", - "UPHENO:0004459", - "CL:0000233", - "CL:0000232", - "CL:0000458", - "CL:0000763", - "UPHENO:0085371", "CL:0000457", - "CL:0000738", - "UPHENO:0086045", - "UPHENO:0085984", - "UPHENO:0077426", - "UPHENO:0086173", - "NCBITaxon:33154", + "UPHENO:0085371", + "HP:0002107", "NCBITaxon:6072", - "BFO:0000020", - "BFO:0000015", "HP:0008069", "UBERON:0001474", "HP:0005939", - "CL:0000000", - "UPHENO:0054970", - "HP:0002719", - "BFO:0000004", - "UBERON:0001005", - "UPHENO:0080377", - "UBERON:0001062", - "UBERON:0000042", - "UBERON:0002204", - "UBERON:0004765", - "UBERON:0034923", - "UPHENO:0081440", "BFO:0000040", "UPHENO:0074624", "UBERON:0015212", - "UPHENO:0083263", - "UBERON:0000468", - "UPHENO:0001005", - "UBERON:0002390", - "GO:0006954", - "HP:0002754", + "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:0003811", - "UPHENO:0082682", - "UPHENO:0049587", - "HP:0010987", - "UBERON:0000977", - "HP:0000924", - "BFO:0000002", - "PATO:0000001", - "UBERON:0000915", - "BFO:0000001", - "UPHENO:0080662", - "UBERON:0004120", - "UPHENO:0001002", - "UPHENO:0074687", - "UPHENO:0080693", - "UPHENO:0080221", - "UPHENO:0074685", - "UBERON:0000481", "UPHENO:0002332", "HP:0033127", + "BFO:0000015", + "CL:0000988", + "UBERON:0000465", + "UBERON:0000064", + "BFO:0000001", + "UBERON:0015203", + "UBERON:0005906", "UPHENO:0059829", "UBERON:0002405", "NCBITaxon:2759", - "UBERON:0000061", - "HP:0001881", - "UPHENO:0085344", - "HP:0002205", - "UBERON:0000065", + "CL:0000764", + "UPHENO:0074572", + "NCBITaxon:1", + "UBERON:0001434", "UBERON:0000467", "UBERON:0002100", "UBERON:0011216", - "UBERON:0001434", - "HP:0011843", - "HP:0002088", - "UPHENO:0001003", - "HP:0000118", - "UBERON:0000064", - "UPHENO:0086908", - "UPHENO:0001001", - "UPHENO:0002263", "UPHENO:0082875", - "UBERON:0010000", - "CL:0000764", - "UPHENO:0074572", - "NCBITaxon:1", "UPHENO:0002948", "UPHENO:0049588", - "UPHENO:0002536", - "UPHENO:0002448", - "UBERON:0015203", - "UBERON:0005906", - "CL:0000988", - "UBERON:0000465", - "UPHENO:0082723", - "UPHENO:0015280", + "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:0087339", - "UPHENO:0087433", - "UPHENO:0076684", - "UBERON:0001558", "UBERON:0013701", "CL:0000081", "UBERON:0009569", - "UBERON:0000475", - "UPHENO:0020748", - "UBERON:0000062", "HP:0002086", "HP:0002783", + "UBERON:0004119", + "UBERON:0000170", + "HP:0001873", + "UBERON:0013702", + "UPHENO:0019970", + "GO:0008150", + "HP:0002795", "UPHENO:0004536", - "UBERON:0003103", - "GO:0050896", - "UPHENO:0049584", - "HP:0012649", - "UBERON:0000060", - "UBERON:0011676", - "UBERON:0000072", + "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", "UBERON:0004111", "UBERON:0005178", - "HP:0032101", - "HP:0001871", - "UPHENO:0049586", - "UPHENO:0075696", - "HP:0002103", - "UBERON:0005181", - "HP:0025461", - "UPHENO:0085189", - "NCBITaxon:33208", - "UBERON:0000077", - "UBERON:0002075", - "HP:0001873", - "UBERON:0013702", - "UPHENO:0019970", - "GO:0008150", - "HP:0002795", "UBERON:0034925", - "UBERON:0002048", - "UBERON:0000171", - "UBERON:0005177", - "UBERON:0004119", - "UBERON:0000170", - "HP:0002107", + "UBERON:0003103", + "UPHENO:0049584", + "GO:0050896", + "HP:0012649", + "UBERON:0000060", + "UBERON:0000062", + "UBERON:0009778", + "HP:0010987", + "HP:0000924", + "UBERON:0000977", "GO:0006950", - "NCBITaxon:131567", - "UBERON:0009778" + "NCBITaxon:131567" ], "has_phenotype_closure_label": [ "Abnormality of the skin", + "Neoplasm by anatomical site", + "Neoplasm", + "integumental system", "Multiple cutaneous malignancies", "Neoplasm of the skin", - "integumental system", - "Neoplasm", - "Neoplasm by anatomical site", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "bone marrow", "cell", - "Pancytopenia", "Abnormal immune system morphology", + "Pancytopenia", "serotonin secreting cell", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal bone marrow cell", - "Abnormal cell morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "bone marrow", - "abnormal bone marrow cell morphology", - "skeletal element", - "abnormal hematopoietic system morphology", - "abnormally decreased number of cell", - "bone element", "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", - "platelet", - "Abnormal cellular immune system morphology", - "erythrocyte", - "leukocyte", - "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", "abnormal platelet", - "Abnormality of bone marrow cell morphology", - "bone cell", + "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", - "abnormal leukocyte morphology", + "abnormal hematopoietic system morphology", + "Abnormal cellular 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", - "increased biological_process in independent continuant", + "non-connected functional system", + "increased qualitatively inflammatory response", + "subdivision of tube", + "Abnormal leukocyte morphology", + "response to stimulus", "changed biological_process rate in independent continuant", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Eukaryota", - "bone marrow cell", - "hematopoietic system", - "Abnormality of the skeletal system", - "anatomical entity", - "Abnormal inflammatory response", + "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", - "increased inflammatory response in bone element", - "abnormally decreased number of myeloid cell", - "compound organ", - "abnormal anatomical entity", - "occurrent", - "Osteomyelitis", - "anucleate cell", - "phenotype by ontology source", - "abnormal cell", - "Abnormal respiratory system physiology", - "increased qualitatively biological_process in independent continuant", - "anatomical structure", - "anatomical conduit", - "increased qualitatively response to stimulus", - "Thrombocytopenia", - "Abnormality of immune system physiology", - "viscus", - "abnormal immune system morphology", - "Eumetazoa", - "defense response", - "Abnormality of the integument", - "protein-containing material entity", - "motile cell", - "independent continuant", - "material entity", + "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", - "biological_process", + "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", - "Increased inflammatory response", - "tissue", - "continuant", - "entity", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type cell", - "increased inflammatory response in independent continuant", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "multicellular organism", - "Abnormal myeloid cell morphology", - "changed biological_process rate", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "lateral structure", - "skin of body", - "skeletal system", - "abnormal skin of body", - "musculoskeletal system", - "Abnormal pleura morphology", - "non-connected functional system", - "increased qualitatively inflammatory response", - "subdivision of tube", - "abnormal inflammatory response", - "Abnormal leukocyte morphology", - "response to stimulus", "Abnormal skeletal morphology", "abnormal response to stimulus", - "abnormal skeletal system", - "increased biological_process", + "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", "integument", "eukaryotic cell", "increased qualitatively inflammatory response in independent continuant", "inflammatory response", "specifically dependent continuant", - "organ system subdivision", - "response to stress", - "ectoderm-derived structure", - "proximo-distal subdivision of respiratory tract", - "increased qualitatively biological_process", - "pleural sac", - "biogenic amine secreting cell", - "Abnormal musculoskeletal physiology", - "Abnormal platelet count", - "abnormal platelet morphology", - "material anatomical entity", + "biological_process", + "tissue", + "continuant", "erythroid lineage cell", "multicellular anatomical structure", - "anatomical system", - "Abnormality of thrombocytes", - "organ", - "organism", + "abnormal skeletal system", + "increased biological_process", + "abnormal immune system morphology", + "Eumetazoa", + "defense response", + "Abnormality of the integument", + "protein-containing material entity", + "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", + "blood cell", + "respiration organ", + "pair of lungs", + "trunk region element", + "thoracic segment organ", + "anatomical collection", "abnormal respiratory system morphology", - "Abnormal lung morphology", - "abnormal anatomical entity morphology in the independent continuant", - "organ part", - "Recurrent respiratory infections", - "respiratory system", - "Multiple bilateral pneumothoraces", "main body axis", "abnormally decreased number of hematopoietic cell", "serous membrane", "abnormal biological_process in independent continuant", "Unusual infection", - "Metazoa", "Abnormality of the immune system", "multi-tissue structure", - "Recurrent infections", + "Metazoa", "abnormal blood cell", "abnormal response to stress", "subdivision of trunk", "Abnormal respiratory system morphology", - "Abnormality of the respiratory system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Recurrent lower respiratory tract infections", - "endoderm-derived structure", - "pair of lungs", - "blood cell", - "respiration organ", + "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", - "thoracic segment organ", - "anatomical collection", - "trunk region element", - "body proper", "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", + "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", - "All", - "abnormal lung morphology", - "tube", - "Pneumothorax", - "respiratory tract", - "organism subdivision", - "respiratory airway", - "thoracic cavity element", - "subdivision of organism along main body axis", - "lung", - "abnormal number of anatomical enitites of type myeloid cell", - "mixed endoderm/mesoderm-derived structure", "lower respiratory tract", "anatomical wall", - "process", - "pleura", "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", - "abnormal bone marrow morphology" + "skeletal element" ], "has_phenotype_count": 5, "highlight": null, "score": null }, { - "id": "MONDO:0001083", + "id": "MONDO:0060778", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", + "name": "adult Fanconi syndrome", "full_name": null, "deprecated": null, - "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.", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624" - ], + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "xref": ["NCIT:C4377"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [ - "De toni-Fanconi syndrome", - "De toni-debre-Fanconi syndrome", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", - "Lignac-Fanconi syndrome", - "adult Fanconi syndrome", - "congenital Fanconi syndrome", - "deToni Fanconi syndrome", - "infantile nephropathic cystinosis", - "toni-debre-Fanconi syndrome" - ], + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], "uri": null, "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, + "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_count": 1, "highlight": null, "score": null }, @@ -4004,12 +4004,12 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0000117", "HP:0001824", "HP:0001324", "HP:0004910", "HP:0001510", + "HP:0002749", "HP:0003774", "HP:0002150", "HP:0001944", @@ -4035,12 +4035,12 @@ "HP:0002049" ], "has_phenotype_label": [ - "Osteomalacia", "Renal phosphate wasting", "Weight loss", "Muscle weakness", "Bicarbonate-wasting renal tubular acidosis", "Growth delay", + "Osteomalacia", "Stage 5 chronic kidney disease", "Hypercalciuria", "Dehydration", @@ -4066,403 +4066,420 @@ "Proximal renal tubular acidosis" ], "has_phenotype_closure": [ - "UPHENO:0068495", - "UPHENO:0046286", - "UPHENO:0051930", - "UPHENO:0068091", - "HP:0031980", + "UPHENO:0051670", + "HP:0002909", + "CHEBI:50860", + "CHEBI:36962", "CHEBI:25806", - "HP:0032180", + "UPHENO:0081544", + "UPHENO:0001001", + "UPHENO:0051804", + "HP:0001941", + "CHEBI:35570", + "UPHENO:0068040", + "CHEBI:29103", + "UPHENO:0076286", "UPHENO:0004459", "GO:0098771", - "CHEBI:50860", - "UPHENO:0001001", - "UPHENO:0081544", - "HP:0011015", - "UPHENO:0080555", - "UBERON:0000170", - "CHEBI:27226", - "HP:0004323", - "HP:0002206", - "UPHENO:0034438", + "UBERON:0001005", + "HP:0032180", "UPHENO:0076299", "UPHENO:0052008", - "HP:0012252", - "HP:0002088", - "PATO:0000001", - "UBERON:0001005", "UPHENO:0087433", "UBERON:0000475", "HP:0012598", + "UPHENO:0034438", + "HP:0012252", + "HP:0002206", + "UBERON:0000170", + "CHEBI:27226", "UPHENO:0068169", "UBERON:0013522", "UBERON:0001004", - "UBERON:0002075", - "CHEBI:22563", - "GO:0065007", + "HP:0004323", + "HP:0002088", + "PATO:0000001", "GO:0033500", "GO:0043229", "UPHENO:0020584", "UPHENO:0050619", - "GO:0065008", - "UPHENO:0086172", + "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", - "CHEBI:22984", - "CHEBI:26020", + "HP:0004912", + "UPHENO:0066781", "GO:0050878", + "UPHENO:0051930", "CHEBI:33521", "CHEBI:36586", - "HP:0011280", - "UPHENO:0051704", + "CHEBI:22984", + "CHEBI:26020", "HP:0000083", "UPHENO:0082794", "HP:0011804", - "GO:0042593", - "UPHENO:0049873", + "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", - "UPHENO:0079536", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0034149", - "UPHENO:0019970", - "UBERON:0013702", - "CHEBI:33304", - "HP:0010930", - "UBERON:0002390", + "UBERON:0000479", + "CHEBI:83821", + "UPHENO:0000541", "UPHENO:0051739", "UPHENO:0066943", - "UBERON:0011143", - "HP:0003076", - "UPHENO:0051847", - "UBERON:0005173", - "UBERON:0000916", - "HP:0000124", - "CHEBI:16646", - "UPHENO:0067999", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0000463", - "CHEBI:16541", - "CHEBI:18282", - "HP:0003126", + "UBERON:0002390", "HP:0004325", "CHEBI:35584", - "UPHENO:0002803", - "UBERON:0005172", "UPHENO:0078555", - "HP:0012622", - "UBERON:0006555", "UPHENO:0081547", "CHEBI:25414", - "UBERON:0004122", "UPHENO:0086132", - "UBERON:0004819", - "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", - "CHEBI:83821", - "UPHENO:0000541", - "CHEBI:22313", - "HP:0000077", - "CHEBI:78616", + "CHEBI:18059", + "UBERON:0000916", + "UPHENO:0079536", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0034149", + "HP:0012072", + "GO:0008150", "UPHENO:0051763", - "HP:0006530", - "UPHENO:0066927", - "HP:0020129", - "UBERON:0004765", - "UBERON:0000467", - "CHEBI:33273", - "UPHENO:0054261", - "HP:0033127", - "UBERON:0001630", - "UPHENO:0002332", - "UPHENO:0078554", - "HP:0002150", - "HP:0011842", - "UPHENO:0068089", - "UPHENO:0075696", - "HP:0012599", - "HP:0003330", - "HP:0000924", - "UBERON:0002113", - "UPHENO:0052116", - "CHEBI:24835", - "UPHENO:0051668", + "UPHENO:0068491", + "UBERON:0001062", + "HP:0001510", + "CHEBI:25696", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0000543", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0068036", + "UPHENO:0081548", "CHEBI:33579", - "HP:0004360", - "HP:0001941", - "UPHENO:0051804", - "UPHENO:0066781", - "HP:0004912", - "CHEBI:35570", - "HP:0001871", + "UPHENO:0051668", + "GO:0009112", + "CHEBI:36359", + "CHEBI:33675", + "UBERON:8450002", + "CHEBI:33302", "GO:0032501", "UBERON:0013701", - "UPHENO:0050433", - "UPHENO:0082539", - "UPHENO:0046344", - "UBERON:0000489", - "UBERON:0000465", - "CHEBI:33582", - "HP:0004348", - "CHEBI:23906", - "HP:0003774", - "HP:0004349", - "BFO:0000040", - "UBERON:0000179", + "UBERON:0000025", + "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", + "HP:0001939", + "CHEBI:26082", + "GO:0040007", + "CHEBI:36357", + "UPHENO:0077821", + "UPHENO:0019970", "CHEBI:33595", "UPHENO:0081550", - "UPHENO:0068064", - "BFO:0000001", - "UBERON:0015212", - "HP:0012211", - "UBERON:0002204", - "UPHENO:0046348", - "UPHENO:0081440", - "UPHENO:0081548", - "UPHENO:0076703", - "UBERON:0000065", - "HP:0002653", - "CHEBI:33241", - "UPHENO:0084654", - "CHEBI:35568", + "HP:0002086", + "GO:0001503", "UBERON:0000062", "CHEBI:26401", "HP:0003119", - "HP:0002086", - "GO:0001503", - "HP:0001510", - "CHEBI:25696", - "CHEBI:33302", - "UBERON:8450002", - "UPHENO:0084653", - "HP:0003287", - "UPHENO:0020748", - "HP:0004910", - "UPHENO:0051678", - "UBERON:0004111", - "GO:0043227", - "BFO:0000002", - "UPHENO:0000543", - "UPHENO:0051686", - "CHEBI:36915", - "UPHENO:0068036", - "UBERON:0001008", - "CHEBI:24833", + "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", - "HP:0010996", - "CHEBI:33635", - "CHEBI:25384", - "CHEBI:36916", - "UPHENO:0079822", - "CHEBI:26469", - "UBERON:0011676", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0000178", - "UPHENO:0078646", + "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", + "HP:0003774", + "HP:0004349", + "UPHENO:0050342", + "HP:0012603", + "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", - "HP:0040156", "CHEBI:33559", + "HP:0040156", "UBERON:0001015", "HP:0012606", "GO:0006144", "GO:0006629", - "UPHENO:0001005", - "UBERON:0000383", - "UPHENO:0051635", - "CHEBI:23367", - "HP:0003355", - "UPHENO:0076289", - "UPHENO:0082538", - "UPHENO:0080556", + "HP:0010996", + "CHEBI:33635", + "CHEBI:25384", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:26469", + "UBERON:0011676", "UBERON:0000174", "HP:0002900", - "CHEBI:26082", - "CHEBI:35381", - "UBERON:0005181", - "HP:0010966", - "UPHENO:0080659", - "HP:0001939", - "GO:0040007", - "UBERON:0000468", - "UBERON:0005090", - "CHEBI:33917", - "HP:0002795", - "UBERON:0001434", - "UBERON:0001474", - "CHEBI:51151", - "UPHENO:0082875", - "UPHENO:0034276", - "GO:0019752", - "UBERON:0011216", - "UBERON:0005178", - "UPHENO:0068102", - "UPHENO:0082835", - "GO:0006631", - "UPHENO:0049874", - "UPHENO:0001002", - "GO:0008152", - "UPHENO:0078592", - "UPHENO:0050791", - "UBERON:0001088", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0082542", - "GO:0009112", - "CHEBI:36359", - "UBERON:0000025", - "CHEBI:33256", - "UPHENO:0051900", - "HP:0002049", - "HP:0011014", - "HP:0430071", - "CHEBI:36360", - "UBERON:0001062", - "UPHENO:0068491", - "CHEBI:33675", - "UBERON:0005177", - "HP:0011277", - "UPHENO:0046283", - "CHEBI:36357", - "UPHENO:0077821", - "GO:0044238", - "GO:0044281", - "CHEBI:37577", - "HP:0002749", - "HP:0001507", - "GO:0005975", - "HP:0000079", - "UPHENO:0002642", - "HP:0002909", - "CHEBI:33318", - "CHEBI:24431", - "HP:0003111", - "UBERON:0000483", - "UPHENO:0082543", - "UPHENO:0010795", + "HP:0003355", + "UPHENO:0076289", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0054299", "UPHENO:0010763", "UPHENO:0034391", - "UBERON:0004120", - "CHEBI:17234", "UPHENO:0076294", "HP:0001942", + "CHEBI:17234", "UPHENO:0086128", "UBERON:0009569", - "HP:0000001", - "UPHENO:0054299", + "UPHENO:0002642", "HP:0001824", + "UBERON:0011143", "HP:0003011", - "UPHENO:0002320", - "UBERON:0002100", - "UPHENO:0068134", - "HP:0001324", - "UPHENO:0079824", - "UBERON:0000064", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0001005", + "UBERON:0000383", + "UPHENO:0051635", "BFO:0000003", "PR:000050567", "UPHENO:0068110", "UBERON:0001231", + "CHEBI:22313", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0079824", + "UBERON:0000064", + "HP:0004360", + "UBERON:0009773", + "UBERON:0004819", + "UPHENO:0002320", + "UBERON:0002100", + "UPHENO:0068134", + "HP:0001324", "UPHENO:0046284", "HP:0001947", "HP:0011849", "GO:0055086", - "UBERON:0000479", - "CHEBI:36962", + "UBERON:0005173", + "UPHENO:0050433", + "UPHENO:0080556", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0046344", + "UBERON:0000489", + "HP:0012622", + "UBERON:0006555", + "UBERON:0000915", + "CHEBI:33285", + "UBERON:0002193", + "UPHENO:0050116", "CHEBI:15693", "CHEBI:72695", "UPHENO:0050539", "UPHENO:0049904", - "GO:0048878", - "UPHENO:0082834", - "CHEBI:17544", - "CHEBI:36963", - "UPHENO:0051186", - "UBERON:0000915", - "CHEBI:33285", + "UBERON:0000179", + "HP:0430071", + "UBERON:0004120", + "HP:0011013", + "HP:0004354", "UPHENO:0049628", "CHEBI:33238", "HP:0003149", - "UBERON:0002193", - "UPHENO:0051766", - "UPHENO:0050116", - "UPHENO:0076286", - "HP:0004354", - "HP:0011013", - "HP:0012603", - "UPHENO:0050342", - "CHEBI:18059", + "HP:0001871", + "GO:0042593", + "UPHENO:0049873", + "GO:0048878", + "UPHENO:0082834", + "CHEBI:17544", "UPHENO:0051866", - "UPHENO:0046356", "UPHENO:0051887", "GO:0110165", "UPHENO:0051709", "CHEBI:35605", - "CHEBI:38166", - "CHEBI:26708", "BFO:0000004", "CHEBI:22314", - "HP:0012591", - "UPHENO:0034253", - "CHEBI:35406", - "HP:0002148", - "UPHENO:0050121", + "UPHENO:0046356", + "CHEBI:38166", + "CHEBI:26708", "UPHENO:0050080", "CHEBI:35573", - "UPHENO:0002411", - "GO:0050801", - "GO:0009987", - "UPHENO:0066739", - "UPHENO:0068296", - "UPHENO:0002816", - "UPHENO:0051937", - "UPHENO:0034351", - "CHEBI:33259", - "CHEBI:24870", + "HP:0002148", + "UPHENO:0050121", "UBERON:0002417", "HP:0000093", - "HP:0012531", - "CHEBI:24867", - "CHEBI:25213", "UPHENO:0034248", + "CHEBI:25213", "HP:0010932", + "UPHENO:0002411", + "GO:0050801", + "CHEBI:24867", + "HP:0012531", + "UPHENO:0034351", + "HP:0012591", + "UPHENO:0034253", + "CHEBI:35406", "HP:0100529", "UPHENO:0034217", - "HP:0002157", - "HP:0033354", - "GO:0006725", - "UPHENO:0068538", - "HP:0004352", - "CHEBI:33608", - "CHEBI:35366", - "CHEBI:25810", - "HP:0000117", - "CHEBI:35875", - "HP:0004364", - "GO:0044237", - "GO:0008150", - "HP:0012072", + "CHEBI:33259", + "CHEBI:24870", + "UPHENO:0002816", + "UPHENO:0051937", + "GO:0009987", + "UPHENO:0066739", + "UPHENO:0068296", "HP:0012337", "UPHENO:0068251", + "UBERON:0003103", + "HP:0001943", + "GO:0072521", + "CHEBI:33250", + "CHEBI:25367", + "HP:0011042", + "HP:0000117", + "CHEBI:35875", + "UPHENO:0068442", + "HP:0004352", "GO:0034641", "GO:0046483", "UBERON:0000061", "GO:1901360", "GO:1901564", "GO:0006139", + "CHEBI:33608", + "CHEBI:35366", + "GO:0044237", + "CHEBI:25810", + "UPHENO:0049587", + "BFO:0000015", + "CHEBI:33833", + "CHEBI:38101", + "CHEBI:33692", + "CHEBI:36914", + "CHEBI:35571", + "CHEBI:51143", + "CHEBI:35352", + "HP:0002157", + "HP:0033354", + "GO:0006725", + "UPHENO:0068538", + "UPHENO:0049748", + "CHEBI:33674", + "UPHENO:0068058", "CHEBI:37175", "UPHENO:0051688", "GO:0005739", @@ -4472,9 +4489,7 @@ "CHEBI:5686", "HP:0004359", "CHEBI:33655", - "UPHENO:0049748", - "UPHENO:0077826", - "CHEBI:51143", + "HP:0003537", "UPHENO:0051960", "UPHENO:0078616", "UPHENO:0051777", @@ -4483,25 +4498,7 @@ "HP:0004369", "CHEBI:16670", "CHEBI:25699", - "CHEBI:35352", - "UPHENO:0068442", - "CHEBI:33674", - "UPHENO:0068058", - "HP:0003537", - "CHEBI:33692", - "CHEBI:36914", - "CHEBI:35571", - "UBERON:0003103", - "HP:0001943", - "GO:0072521", - "CHEBI:33250", - "CHEBI:25367", - "HP:0011042", - "UPHENO:0049587", - "BFO:0000015", - "CHEBI:33833", - "CHEBI:38101", - "CHEBI:27171", + "UPHENO:0077826", "GO:0006807", "CHEBI:33659", "GO:0043436", @@ -4516,71 +4513,71 @@ "CHEBI:33245", "UPHENO:0050113", "CHEBI:60242", - "UPHENO:0006889", - "HP:0001944", - "CHEBI:22860", - "CHEBI:17126", + "HP:0004364", + "CHEBI:27171", + "GO:0006577", + "CHEBI:36358", "GO:0071704", "CHEBI:35284", - "UPHENO:0049723", - "HP:0010967", - "UPHENO:0050484", + "HP:0001944", + "CHEBI:22860", "UPHENO:0084472", + "HP:0001992", + "HP:0011017", + "UPHENO:0002442", + "UPHENO:0034199", + "CHEBI:17126", "GO:0044255", "GO:0006082", "HP:0010935", "GO:0005575", "UPHENO:0002448", "GO:0006575", + "GO:0009437", + "UPHENO:0084541", + "UPHENO:0034319", + "HP:0011843", + "UPHENO:0049723", + "CHEBI:25741", + "CHEBI:24651", + "UPHENO:0050484", + "GO:0043226", + "GO:0005737", + "GO:0005622", + "HP:0010967", + "UPHENO:0078640", "GO:0032787", "CHEBI:36587", "CHEBI:29067", - "UPHENO:0078640", - "HP:0012103", - "UPHENO:0084537", - "GO:0005623", "UPHENO:0082544", - "UPHENO:0051712", - "HP:0025354", - "HP:0001992", - "HP:0011017", - "UPHENO:0002442", - "UPHENO:0034199", - "GO:0043226", - "GO:0005737", - "GO:0005622", - "CHEBI:29103", - "UPHENO:0068040", - "CHEBI:25741", - "CHEBI:24651", - "UPHENO:0084541", - "UPHENO:0034319", - "HP:0011843", - "GO:0006577", - "CHEBI:36358", - "CHEBI:33575", - "CHEBI:28868", - "UPHENO:0015280", - "UPHENO:0075902", + "UPHENO:0084537", + "UPHENO:0006889", + "HP:0012103", "UPHENO:0048707", + "UPHENO:0075902", + "UPHENO:0015280", "CHEBI:27369", "CHEBI:35757", "GO:0055062", "UPHENO:0084542", - "GO:0009437", - "UPHENO:0068350", + "UPHENO:0051712", + "HP:0025354", + "GO:0005623", + "CHEBI:33575", + "CHEBI:28868", "UPHENO:0051898", "HP:0003081", "UBERON:0000171", "CHEBI:26216", "UBERON:0004119", "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0051645", "CHEBI:33296", + "HP:0010929", "UBERON:0001558", "CHEBI:26217", "CHEBI:37247", - "UPHENO:0051645", - "HP:0010929", "UBERON:0000072", "UPHENO:0051958", "CHEBI:33504", @@ -4591,81 +4588,82 @@ "HP:0001995", "GO:0055080", "HP:0004918", + "HP:0011032", + "HP:0003110", + "UPHENO:0051659", "UPHENO:0001003", "UPHENO:0068079", "HP:0003646", + "HP:0031980", "HP:6000531", "CHEBI:35604", - "HP:0011032", - "HP:0003110", - "UPHENO:0051659", - "UPHENO:0051619", "UPHENO:0051714", + "UPHENO:0051619", "HP:0003234", "HP:0012610", "UPHENO:0068024", - "UPHENO:0068247", - "CHEBI:32988", "CHEBI:35552", "CHEBI:15841", - "CHEBI:50047", "UPHENO:0051801", + "CHEBI:32988", "UBERON:0001285", "UPHENO:0068565", + "UPHENO:0068247", + "CHEBI:50047", "UPHENO:0080658", + "CHEBI:33709", + "UPHENO:0068091", "UPHENO:0049618", "UPHENO:0068144", - "CHEBI:33709", - "UPHENO:0051670" + "UPHENO:0046286", + "UPHENO:0068495" ], "has_phenotype_closure_label": [ "Proximal renal tubular acidosis", - "increased level of carboxylic acid in independent continuant", "abnormal independent continuant amino acid level", + "increased level of carboxylic acid in independent continuant", + "amino acid", + "Abnormal circulating organic compound concentration", "abnormal mitochondrion", - "heteroorganic entity", - "abnormal metabolic process", - "excreta", - "organic oxo compound", "molecular entity", - "abnormal homeostatic process", - "proximo-distal subdivision of respiratory tract", - "abnormal blood glucose level", - "Decreased plasma carnitine", + "heteroorganic entity", "abnormal chemical homeostasis", "abnormal urine organic anion level", - "Abnormal blood glucose concentration", - "organonitrogen compound metabolic process", - "abnormal hematopoietic system", + "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", - "lung fibrosis", + "pair of lungs", + "regulation of biological quality", "abnormal respiratory system", - "increased bodily fluid acid level", - "Bicarbonaturia", - "biological_process", - "increased bodily fluid role level", "viscus", "abnormal respiratory system morphology", "monocarboxylic acid metabolic process", - "pair of lungs", - "regulation of biological quality", + "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", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal lung morphology", + "increased bodily fluid acid level", + "Bicarbonaturia", "oxygen molecular entity", "organooxygen compound", "Abnormality of fluid regulation", - "abnormal independent continuant phosphate level", "Abnormality of the skeletal system", "lung", + "abnormal independent continuant phosphate level", "Hypercalciuria", - "haemolymphatic fluid", - "abnormal role urine level", "s-block element atom", "metal atom", "uric acid", @@ -4674,340 +4672,344 @@ "mesoderm-derived structure", "non-functional anatomical entity", "thoracic segment organ", - "delayed biological_process", - "oxoacid", - "abnormal role bodily fluid level", - "aldose", - "increased level of glucose in independent continuant", - "abnormal regulation of body fluid levels", - "excretory tube", - "Abnormal pulmonary interstitial morphology", - "Renal tubular acidosis", - "abdomen element", - "respiratory tract", - "organism subdivision", - "increased level of chemical entity", - "organic substance metabolic process", - "Abnormal cellular physiology", - "inorganic cation", - "abnormal urine calcium atom level", + "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", - "lateral structure", + "abnormal role bodily fluid level", "abnormal lipid metabolic process", - "endoderm-derived structure", - "trunk region element", - "body proper", - "increased level of glucose in urine", - "purine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "carboxylic acid metabolic process", - "organic aromatic compound", - "Renal tubular dysfunction", - "Abnormality of the respiratory system", - "Abnormality of the urinary system physiology", - "increased level of potassium atom in independent continuant", - "regulation of body fluid levels", - "abnormal blood chemical entity level", - "abnormal acid bodily fluid level", + "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", - "Decreased anatomical entity mass density", "carbon group molecular entity", + "carbohydrate metabolic process", + "Pulmonary fibrosis", "abnormal independent continuant chemical entity level", + "abnormal skeletal system", + "Abnormal renal physiology", "Weight loss", - "phosphorus oxoacid derivative", - "compound organ", - "kidney epithelium", - "Abnormal blood phosphate concentration", - "skeletal system", + "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", - "abnormality of anatomical entity mass", - "abnormality of respiratory system physiology", + "biological_process", + "increased bodily fluid role level", "Decreased body weight", - "organ", - "occurrent", - "anatomical collection", - "polyatomic entity", - "abnormality of renal system physiology", - "monosaccharide", - "nucleobase-containing small molecule metabolic process", - "mancude organic heterobicyclic parent", + "lipid", + "carbohydrate", + "renal system", + "oxopurine", "respiratory system", "abnormal sodium atom level", "abnormal amino-acid betaine level", - "oxopurine", - "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", - "Abnormality of urine homeostasis", - "organ system subdivision", - "Aminoaciduria", - "abnormal genitourinary system", - "Metabolic acidosis", - "blood", - "hydrides", - "increased level of potassium atom in urine", - "abdominal segment element", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "material entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "hematopoietic system", - "purines", - "abnormal purine nucleobase metabolic process", - "Abnormal respiratory system physiology", - "potassium molecular entity", + "organochalcogen compound", "Abnormal homeostasis", "Abnormal muscle physiology", - "organochalcogen compound", "Increased susceptibility to fractures", + "Abnormal respiratory system physiology", + "potassium molecular entity", "homeostatic process", "abnormal carbohydrate metabolic process", "p-block molecular entity", - "phosphorus oxoacids and derivatives", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "Abnormal renal physiology", - "abnormal skeletal system", - "nucleobase", - "increased level of carboxylic acid in urine", - "abnormal musculature", - "organ part", - "Muscle weakness", - "multicellular organismal process", - "abnormal blood phosphate level", - "obsolete cellular aromatic compound metabolic process", - "hemolymphoid system", - "hexose", - "multicellular anatomical structure", - "Pulmonary fibrosis", - "carbohydrate metabolic process", - "abnormal lung morphology", - "alkaline earth metal atom", - "Abnormal skeletal morphology", - "abnormal glucose homeostasis", - "decreased level of phosphate in independent continuant", - "anatomical entity", - "bone element", - "excretory system", - "tube", - "decreased level of phosphate in blood", - "abnormal phosphate level", - "decreased level of chemical entity", - "abnormal anatomical entity", - "abnormal growth", - "All", - "Abnormal bone structure", - "organic cyclic compound", - "Hyperchloremic acidosis", - "abnormally decreased functionality of the nephron tubule", - "Abnormal cellular phenotype", - "abnormal bone element mass density", - "abnormality of anatomical entity physiology", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "Osteomalacia", - "Abnormality of the musculature", - "decreased role independent continuant level", - "ossification", - "abnormal independent continuant calcium atom level", - "Abnormal circulating metabolite concentration", - "increased independent continuant role level", - "entity", - "cavitated compound organ", - "skeletal element", - "Decreased bone element mass density", - "abnormal phenotype by ontology source", - "pnictogen molecular entity", - "subdivision of trunk", "abnormal chemical entity level", "Abnormality of metabolism/homeostasis", + "nephron", "tissue", "continuant", "Abnormal circulating nucleobase concentration", "protein polypeptide chain", - "nephron", - "Hypoglycemia", - "decreased level of carnitine in independent continuant", - "Chronic kidney disease", - "material anatomical entity", - "muscle structure", - "carbohydrate", - "renal system", - "lipid", - "Bicarbonate-wasting renal tubular acidosis", - "organism substance", - "cellular anatomical entity", - "aldohexose", - "subdivision of organism along main body axis", - "phosphoric acid derivative", - "abnormal renal system", - "abnormal independent continuant monoatomic ion level", - "abnormal small molecule metabolic process", - "phosphate", - "abnormal multicellular organism chemical entity level", - "alkali metal cation", - "abnormal role independent continuant level", - "metal cation", - "abnormal independent continuant glucose level", - "process", - "trunk", + "monoatomic ion homeostasis", + "increased independent continuant role level", + "entity", + "subdivision of trunk", + "pnictogen molecular entity", "Abnormality of the urinary system", "Aciduria", - "epithelium", - "abnormality of kidney physiology", - "main group molecular entity", - "heteroatomic molecular entity", - "increased level of calcium atom in independent continuant", - "increased independent continuant acid level", - "Dehydration", - "polyatomic ion", - "Renal insufficiency", - "nephron epithelium", - "Abnormality of body weight", - "growth", - "heteropolycyclic compound", - "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", - "Abnormality of the upper urinary tract", - "Bone pain", - "decreased anatomical entity strength", - "abnormal calcium atom level", - "musculature of body", - "biological regulation", - "abdominal segment of trunk", - "anatomical conduit", - "phosphorus molecular entity", - "anatomical structure", - "organic ion", - "Abnormal circulating carbohydrate concentration", - "musculature", - "calcium atom", - "decreased role blood level", + "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", - "decreased anatomical entity mass", - "abdomen", - "Abnormal circulating organic compound concentration", - "increased level of calcium atom in urine", - "abnormal carbohydrate homeostasis", - "Abnormal urine metabolite level", - "primary metabolic process", "glucose homeostasis", - "carbohydrates and carbohydrate derivatives", - "organic acid", - "abnormal metabolite independent continuant level", - "abnormal primary metabolic process", + "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", - "Renal sodium wasting", - "delayed growth", - "decreased level of carnitine in blood", "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", - "Hypophosphatemic rickets", - "Decreased anatomical entity mass", - "inorganic ion homeostasis", "abnormal blood monoatomic ion level", - "Azotemia", "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", - "Hypophosphatemia", - "Renal phosphate wasting", - "Abnormal circulating monocarboxylic acid concentration", - "decreased level of chemical entity in independent continuant", - "Abnormality of mitochondrial metabolism", "phosphate ion homeostasis", - "Abnormal blood ion concentration", - "increased level of chemical entity in blood", - "Abnormal urine phosphate concentration", - "organic hydride", - "Abnormality of urinary uric acid level", - "aromatic compound", - "nitrogen molecular entity", - "polycyclic compound", - "s-block molecular entity", + "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", - "obsolete heterocycle metabolic process", - "small molecule metabolic process", "nucleobase-containing compound metabolic process", - "Abnormal circulating purine concentration", - "Abnormal urine protein level", - "abnormal cellular process", - "Abnormal circulating carnitine concentration", - "mancude ring", - "elemental potassium", - "cellular process", - "amino-acid betaine", - "increased level of organic acid in urine", - "Hypouricemia", "Decreased circulating purine concentration", "anatomical system", "mitochondrion", "abnormal independent continuant carnitine level", "Hypokalemia", - "Abnormality of the genitourinary system", - "organic heterocyclic compound", - "heterobicyclic compound", + "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 independent continuant uric acid level", - "abnormal blood carnitine level", - "cellular metabolic process", - "obsolete nitrogen compound metabolic process", + "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", @@ -5017,16 +5019,6 @@ "kidney", "Growth delay", "organic mancude parent", - "heteroarene", - "organic molecular entity", - "abnormal anatomical entity mass density", - "increased level of organic molecular entity in independent continuant", - "organic heteropolycyclic compound", - "organonitrogen heterocyclic compound", - "non-functional kidney", - "heterocyclic organic fundamental parent", - "chemical entity", - "Abnormal circulating carboxylic acid concentration", "Reduced bone mineral density", "abnormal blood nitrogen molecular entity level", "Abnormality of the kidney", @@ -5034,45 +5026,58 @@ "decreased level of purines", "cation", "purine nucleobase metabolic process", - "amino acid", - "decreased level of uric acid in blood", - "decreased multicellular organism mass", - "abnormal blood uric acid level", - "phenotype by ontology source", - "oxoanion", - "carboxylic acid anion", - "monocarboxylic acid", + "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", - "abnormal cell", - "heterocyclic compound", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", + "quality", + "carboxylic acid", + "abnormal amino acid derivative level", + "phenotype by ontology source", + "oxoanion", + "carboxylic acid anion", "abnormal cellular_component", - "abnormal role blood level", - "organelle", "abnormal carboxylic acid metabolic process", - "zwitterion", - "carbonyl compound", - "monocarboxylic acid anion", - "purine-containing compound metabolic process", - "carbon oxoacid", - "obsolete cell", - "Abnormal blood potassium concentration", "Abnormal circulating nitrogen compound concentration", "intracellular membrane-bounded organelle", "oxide", - "polyatomic anion", - "glucose", - "fatty acid anion", "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", - "organic heterobicyclic compound", "Abnormality of bone mineral density", + "organic heterobicyclic compound", "hydrogencarbonate", "oxoacid metabolic process", "abnormal urine sodium atom level", @@ -5082,49 +5087,44 @@ "intracellular organelle", "membrane-bounded organelle", "anion", - "quality", - "abnormal amino acid derivative level", - "carboxylic acid", - "onium betaine", - "Abnormal urine carboxylic acid level", - "Abnormal circulating fatty-acid concentration", - "Abnormality of acid-base homeostasis", - "urine", - "quaternary nitrogen compound", - "increased level of monosaccharide in independent continuant", - "Hyperchloremic metabolic acidosis", - "amino acid derivative", - "abnormal carnitine metabolic process", "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", - "Abnormal bone ossification", - "abnormal urine potassium atom level", + "monocarboxylic acid", "chalcogen molecular entity", "abnormal potassium atom level", "abnormal independent continuant potassium atom level", "chemical homeostasis", "main body axis", "potassium atom", - "monovalent inorganic cation", - "monoatomic monocation", - "abnormal urine hydrogencarbonate level", - "alkali metal molecular entity", + "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", - "abnormal blood potassium(1+) level", "polypeptide", "decreased level of potassium atom in blood", - "potassium(1+)", - "monoatomic cation", - "Abnormal blood monovalent inorganic cation concentration", "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", @@ -5134,41 +5134,65 @@ "Pain", "independent continuant", "Abnormal urine pH", - "abnormal independent continuant hydrogencarbonate level", - "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "increased level of hydrogencarbonate in urine", "imidazopyrimidine", "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "abnormal hydrogencarbonate level", "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", - "Hyperuricosuria", - "increased level of amino acid in urine", - "increased level of uric acid in urine", - "peptide", - "increased level of protein polypeptide chain in independent continuant", - "amide", - "Low-molecular-weight proteinuria", + "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", - "abnormal acid independent continuant level", - "organic amino compound", + "peptide", "abnormal urine glucose level", "increased level of monosaccharide in urine", - "increased level of organic acid in independent continuant", - "Elevated urinary carboxylic acid", + "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", - "abnormal amino acid level" + "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", @@ -5192,8 +5216,8 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002749", "HP:0000117", + "HP:0002749", "HP:0002148", "HP:0000114", "HP:0002757", @@ -5211,8 +5235,8 @@ "HP:0002150" ], "has_phenotype_label": [ - "Osteomalacia", "Renal phosphate wasting", + "Osteomalacia", "Hypophosphatemia", "Proximal tubulopathy", "Recurrent fractures", @@ -5230,608 +5254,617 @@ "Hypercalciuria" ], "has_phenotype_closure": [ - "HP:0002150", - "UPHENO:0051678", + "HP:0011280", "UPHENO:0068134", "UPHENO:0046344", - "HP:0011280", + "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:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - "UPHENO:0000541", "UPHENO:0075159", - "HP:0001510", - "UPHENO:0068174", - "UPHENO:0082943", - "HP:0002152", - "PR:000000001", - "CHEBI:33694", - "PR:000064867", - "UPHENO:0051648", - "HP:0004360", - "UPHENO:0068442", "UPHENO:0051936", - "HP:0001948", "HP:0012337", "UPHENO:0077826", + "HP:0001948", + "UPHENO:0068174", + "UPHENO:0051648", "UPHENO:0068971", "CHEBI:33695", - "UPHENO:0068104", + "UPHENO:0051741", + "UPHENO:0082943", + "PR:000064867", + "UPHENO:0068477", + "CHEBI:33694", + "UBERON:0001969", "UPHENO:0082536", "UPHENO:0068472", "UPHENO:0068068", - "UPHENO:0051741", - "UBERON:0001969", - "UPHENO:0068477", - "UPHENO:0081550", + "HP:0002152", + "HP:0004360", + "UPHENO:0068442", "PR:000018263", - "UPHENO:0080658", + "PR:000000001", + "UPHENO:0068104", + "UPHENO:0081550", "HP:0012212", "UBERON:0001977", "UPHENO:0051635", + "UPHENO:0080658", "UPHENO:0068054", - "UPHENO:0052116", "HP:6000531", - "CHEBI:17234", "CHEBI:33917", + "CHEBI:18133", + "CHEBI:17234", "HP:0010876", "CHEBI:35381", - "CHEBI:18133", + "UPHENO:0052116", + "UPHENO:0068247", "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:32988", "UPHENO:0051801", "CHEBI:15841", - "CHEBI:32988", - "CHEBI:16541", - "UPHENO:0068247", "CHEBI:16670", - "UPHENO:0048763", - "UPHENO:0082539", + "PR:000013429", + "HP:0100508", + "UPHENO:0049873", + "UBERON:0034923", + "UPHENO:0051628", + "UPHENO:0068047", + "HP:0000818", "CHEBI:26191", "CHEBI:35350", "CHEBI:22313", "CHEBI:51958", - "UPHENO:0076293", - "UPHENO:0079534", - "CHEBI:37622", - "GO:0006775", - "GO:0008202", - "UBERON:0034923", - "UPHENO:0080351", - "UPHENO:0076286", - "HP:0031415", + "UPHENO:0081547", + "UPHENO:0048763", + "HP:0430071", + "UPHENO:0051680", + "UBERON:0015204", "UPHENO:0050116", - "UPHENO:0051628", - "UPHENO:0068047", - "HP:0000818", - "CHEBI:18059", + "CHEBI:33822", + "CHEBI:33832", + "CHEBI:78616", + "HP:0000077", "UBERON:0001231", - "UBERON:0000064", - "CHEBI:24870", - "UPHENO:0034217", - "UPHENO:0051960", + "UBERON:0011143", "GO:0048878", - "UPHENO:0066739", - "UPHENO:0075902", "UPHENO:0080352", "UBERON:0000179", "CHEBI:27136", "BFO:0000004", - "HP:0012531", - "GO:0050801", - "HP:0000083", - "GO:0032501", - "GO:1901360", - "UPHENO:0050080", - "HP:0002148", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0049618", + "CHEBI:33259", + "UPHENO:0034217", "UPHENO:0051630", "UPHENO:0034253", - "UBERON:0000468", "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:0004364", - "UPHENO:0078628", - "UPHENO:0078589", - "UPHENO:0002442", - "PATO:0000001", - "HP:0000079", - "HP:0001507", - "CHEBI:37577", - "HP:0012591", - "UPHENO:0004459", - "GO:0098771", - "HP:0011277", - "GO:0071704", - "CHEBI:33675", - "BFO:0000020", - "HP:0430071", - "CHEBI:24867", - "CHEBI:33256", - "UBERON:0000025", - "HP:0003110", - "CHEBI:36359", - "UPHENO:0082542", - "HP:0000119", + "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:51143", "UPHENO:0080638", "UPHENO:0002964", - "UPHENO:0051712", - "UPHENO:0086128", - "CHEBI:33595", - "UPHENO:0049587", - "GO:0008152", - "HP:0003077", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", - "HP:0001871", - "UPHENO:0082835", - "UPHENO:0068040", "UPHENO:0080643", "UBERON:0011216", "UPHENO:0082875", "UBERON:0001474", "UBERON:0002100", - "HP:0000118", - "UBERON:0001434", - "HP:0001939", - "CHEBI:26082", - "CHEBI:17823", - "CHEBI:23367", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0068491", - "CHEBI:36357", - "UPHENO:0077821", + "HP:0003330", + "UBERON:0000467", + "UBERON:0004765", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0082835", + "UPHENO:0068040", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0001871", "UPHENO:0002536", "UPHENO:0076692", "UPHENO:0051186", "CHEBI:36963", - "UBERON:0011676", - "UPHENO:0002332", - "UPHENO:0078554", "CHEBI:33635", "UBERON:0000061", - "CHEBI:33839", - "CHEBI:26079", - "HP:0011849", - "UPHENO:0048707", - "HP:0100529", - "CHEBI:35352", - "UPHENO:0051686", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0084653", - "CHEBI:73558", - "UBERON:8450002", - "UPHENO:0068169", - "HP:0032369", - "CHEBI:33302", - "UBERON:0001062", - "GO:0001503", - "UPHENO:0084654", - "UPHENO:0034351", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "GO:0008152", + "HP:0003077", + "UPHENO:0046284", + "UBERON:0003103", + "UPHENO:0068110", + "UPHENO:0002442", + "PATO:0000001", "UBERON:0002193", - "CHEBI:33241", "HP:0002653", "UPHENO:0076703", - "CHEBI:33259", - "UPHENO:0049618", "UPHENO:0015280", "UPHENO:0081548", + "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", + "CHEBI:33839", + "CHEBI:26079", + "HP:0031415", + "GO:0042592", + "UBERON:0000489", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0001003", "UBERON:0004120", "UPHENO:0068538", - "CHEBI:35341", - "BFO:0000001", - "UPHENO:0003116", - "UPHENO:0051804", + "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:0051937", - "CHEBI:33709", - "CHEBI:35605", - "GO:0042359", - "UPHENO:0082834", - "HP:0033405", - "BFO:0000040", - "HP:0004349", - "UBERON:0001088", - "GO:0044281", - "UPHENO:0082534", - "HP:0002749", - "HP:0004348", - "HP:0000001", - "UBERON:0004111", - "UBERON:0000489", - "UPHENO:0082538", - "GO:0042592", - "CHEBI:36080", - "UBERON:0006314", - "HP:0000114", - "UPHENO:0068495", + "UPHENO:0077821", + "CHEBI:36357", + "UPHENO:0004459", + "GO:0098771", + "CHEBI:26082", + "CHEBI:17823", + "HP:0001939", + "HP:0033127", + "UPHENO:0075696", + "HP:0011842", + "HP:0012599", + "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:0100529", + "CHEBI:35352", + "UPHENO:0051686", + "UPHENO:0001005", + "GO:0044281", + "UBERON:0001088", "CHEBI:33318", "CHEBI:24431", "HP:0003111", - "BFO:0000015", - "UPHENO:0049628", - "CHEBI:33238", - "CHEBI:35788", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "UBERON:0000174", - "HP:0000924", - "UBERON:0013702", - "CHEBI:33304", - "HP:0003330", - "HP:0012599", - "UPHENO:0075696", - "HP:0011842", - "HP:0033127", - "UPHENO:0001003", - "HP:0100530", - "UPHENO:0034391", - "UPHENO:0068049", - "CHEBI:51143", - "UPHENO:0051640", - "UPHENO:0081546", - "UBERON:0000467", - "UBERON:0004765", - "UBERON:0000949", - "UBERON:0000062", - "HP:0003119", - "HP:0020129", - "UPHENO:0046348", - "UPHENO:0066927", - "CHEBI:15693", - "UPHENO:0081544", + "UBERON:0001062", "UPHENO:0051763", "GO:0008150", "UPHENO:0068064", "CHEBI:72695", + "HP:0011849", + "UPHENO:0048707", + "UPHENO:0051847", + "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", "UBERON:0009569", "CHEBI:24651", + "BFO:0000001", + "CHEBI:35341", + "CHEBI:36853", + "UBERON:0004819", "UBERON:0000483", - "UBERON:0000479", - "CHEBI:33832", - "UBERON:0000475", - "HP:0012211", + "UBERON:0004122", + "HP:0010935", "UPHENO:0076285", "UBERON:0015212", + "HP:0012211", + "HP:0033331", + "UBERON:0006555", + "UPHENO:0024906", "UPHENO:0002411", "UPHENO:0051864", - "CHEBI:78616", - "HP:0000077", - "UBERON:0002390", - "HP:0003117", - "HP:0001992", - "UPHENO:0051709", - "UBERON:0010000", - "UPHENO:0066943", + "UBERON:0000916", "UBERON:0004211", "UBERON:0007684", "UBERON:0009773", - "UBERON:0004122", - "HP:0010935", - "HP:0033331", - "UBERON:0006555", "UPHENO:0052038", "UBERON:0005172", - "CHEBI:16646", - "HP:0000124", - "UBERON:0000916", - "UPHENO:0068533", - "CHEBI:47042", - "UBERON:0005173", - "UPHENO:0051847", - "UBERON:0005177", - "UBERON:0011143", - "UPHENO:0024906", - "CHEBI:36853", - "UBERON:0004819", - "HP:0002659", + "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", - "PR:000013429", - "HP:0100508", - "HP:0011843", "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", - "UBERON:0000465", - "CHEBI:33582", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0002642", - "HP:0002909", + "UPHENO:0076289", "HP:0012072", - "UPHENO:0076287", "UPHENO:0046281", + "UPHENO:0076287", "CHEBI:25806", - "UPHENO:0051670", - "HP:0031980", + "CHEBI:36962", "CHEBI:50860", - "CHEBI:22984", - "UBERON:0000463", - "CHEBI:26020", - "HP:0040156", - "CHEBI:36587", - "UPHENO:0068384", - "UBERON:0001008", - "CHEBI:24833", - "HP:0003355", - "CHEBI:33559", - "UPHENO:0051930", + "UPHENO:0079534", "UPHENO:0051900", "UPHENO:0051739", - "CHEBI:36962", - "CHEBI:33285", - "CHEBI:25367", "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:0068058", - "UPHENO:0068313", - "CHEBI:33674", - "UPHENO:0076289", + "UPHENO:0051670", "CHEBI:33575", "CHEBI:50047", - "CHEBI:33521", - "UPHENO:0082541", - "CHEBI:36586", + "UPHENO:0068251", + "GO:0008202", + "UPHENO:0082834", + "GO:0042359", "UPHENO:0068102", "UPHENO:0000543", "HP:0003076", "CHEBI:27300", - "UPHENO:0048711", - "UPHENO:0049873", - "UPHENO:0001001", - "GO:0044238", - "UPHENO:0068251", "GO:0006629", "GO:1901615", "UBERON:0000178", "GO:0006766", - "UPHENO:0051680", - "UBERON:0015204", - "CHEBI:33822", - "UPHENO:0081547" + "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": [ - "Hypercalciuria", "alkaline earth metal atom", - "atom", + "Hypercalciuria", "s-block element atom", "main group element atom", - "Abnormality of urine calcium concentration", "increased level of calcium atom in independent continuant", + "Abnormality of urine calcium concentration", "abnormal calcium atom level", + "atom", "Renal insufficiency", "non-functional kidney", - "Decreased glomerular filtration rate", "Abnormal glomerular filtration rate", + "Decreased glomerular filtration rate", "Pain", "Constitutional symptom", - "growth", - "Growth delay", "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", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "abnormal blood parathyroid hormone level", "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", - "parathyroid hormone", - "blood plasma", - "increased level of calcium atom in urine", - "abnormal blood protein polypeptide chain level", - "Elevated circulating parathyroid hormone level", - "Abnormal circulating nitrogen compound concentration", - "increased level of protein in blood", - "Alkalosis", - "increased level of nitrogen molecular entity in blood", - "Abnormality of acid-base homeostasis", "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", - "abnormal blood serum chemical entity level", - "abnormal acid bodily fluid level", - "increased level of protein", "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", - "increased level of monosaccharide in urine", + "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", - "abnormal urine glucose level", - "abnormal independent continuant carbohydrate level", "monosaccharide", + "peptide", "macromolecule", "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "amide", "increased level of protein polypeptide chain in independent continuant", - "peptide", - "Abnormal metabolism", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "hydroxy seco-steroid", + "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", - "small molecule metabolic process", "abnormal hormone independent continuant level", - "abnormal independent continuant calcium atom level", - "abnormal independent continuant parathyroid hormone level", - "abnormal vitamin metabolic process", - "steroid", - "cyclic compound", "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", - "organism substance", - "primary amide", - "elemental molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "seco-steroid", + "bodily fluid", + "abnormal urine phosphate level", + "abdomen element", "Hypophosphatemia", "monoatomic ion", - "increased blood role level", - "Abnormality of vitamin D metabolism", - "abnormal homeostatic process", - "decreased level of chemical entity in blood", - "phenotype by ontology source", "abnormal blood chemical entity level", "monoatomic entity", "abnormal acid independent continuant level", - "abnormal urine phosphate level", - "abdomen element", - "protein-containing molecular entity", - "Abnormal circulating organic compound concentration", - "increased level of vitamin D", + "decreased level of chemical entity in blood", + "phenotype by ontology source", "abnormal blood plasma chemical entity level", "inorganic ion homeostasis", "Reduced bone mineral density", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "non-functional anatomical entity", - "Osteopenia", - "increased level of monosaccharide in independent continuant", - "D3 vitamins", - "chemical entity", - "polyol", - "increased independent continuant acid level", - "heteroatomic molecular entity", - "main group molecular entity", - "abnormality of kidney physiology", - "abnormal chemical homeostasis", - "abnormal independent continuant lipid level", - "phosphorus molecular entity", - "oxoacid derivative", - "trunk", - "abnormality of musculoskeletal system physiology", - "abnormal bone element mass density", - "abnormal multicellular organism chemical entity level", - "phosphate", - "non-connected functional system", - "calcitriol", - "subdivision of organism along main body axis", + "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", - "phosphate ion homeostasis", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", - "molecular entity", - "Abnormality of blood and blood-forming tissues", - "lipid", - "material anatomical entity", - "nephron", - "protein polypeptide chain", - "continuant", - "amino acid chain", - "tissue", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "increased level of lipid in independent continuant", + "abnormal size of multicellular organism", + "bone element", "decreased size of the multicellular organism", "Decreased bone element mass density", - "chemical homeostasis", - "skeletal element", - "cavitated compound organ", - "increased level of lipid in blood", - "increased level of parathyroid hormone in blood serum", - "Abnormal circulating protein concentration", - "entity", - "abnormal blood lipid level", - "information biomacromolecule", - "Glycosuria", - "Abnormal bone ossification", - "abdominal segment element", "abnormal anatomical entity mass density", "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "anatomical system", - "All", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal independent continuant monoatomic ion level", - "excretory system", - "abnormal size of multicellular organism", - "bone element", - "anatomical entity", - "multicellular anatomical structure", + "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 musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", + "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", - "Alkalemia", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal protein level", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", + "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", - "organic cyclic compound metabolic process", - "ion", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", "biomacromolecule", "p-block molecular entity", "triol", @@ -5840,98 +5873,88 @@ "Abnormal homeostasis", "Increased susceptibility to fractures", "organochalcogen compound", - "urine", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "material entity", - "organic amino compound", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "Azotemia", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "process", - "fat-soluble vitamin metabolic process", - "nephron tubule", - "hydrogen molecular entity", - "abnormal role independent continuant level", - "abnormal genitourinary system", - "Aminoaciduria", - "organ system subdivision", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "carbon oxoacid", + "Organic aciduria", + "Abnormal metabolism", "increased level of calcitriol in independent continuant", - "musculoskeletal system", "abnormal upper urinary tract", - "uriniferous tubule", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", + "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", - "Abnormal bone structure", - "organic cyclic compound", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "phosphoric acid derivative", - "abnormality of renal system physiology", - "quality", - "carbon oxoacid", - "multicellular organism", - "hematopoietic system", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Recurrent fractures", - "carbonyl compound", - "polyatomic entity", - "abnormal chemical entity level", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "pnictogen molecular entity", - "occurrent", - "organ", - "delayed biological_process", - "Osteomalacia", - "oxoacid", "carbohydrate", "increased bodily fluid role level", "biological_process", "renal tubule", "Hyperlipidemia", - "abnormal vitamin D level", "genitourinary system", - "skeletal system", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", + "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", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "bodily fluid", - "seco-steroid", "metabolic process", - "Bone pain", - "Abnormality of the upper urinary tract", + "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", - "abdomen", - "abdominal segment of trunk", - "Renal tubular dysfunction", - "abnormal kidney", - "increased bodily fluid base level", - "increased level of glucose in urine", - "body proper", - "trunk region element", - "nephron epithelium", "lateral structure", - "Proximal tubulopathy", - "organism subdivision", - "tube", - "excretory tube", "Abnormality of urine homeostasis", "upper urinary tract", "abnormal hematopoietic system", @@ -5939,1633 +5962,1610 @@ "Renal phosphate wasting", "abnormal endocrine system", "kidney", + "tube", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "nephron epithelium", "hemolymphoid system", "Rickets", - "increased level of organic acid in independent continuant", - "Abnormal urine phosphate concentration", - "increased level of carboxylic acid in urine", - "increased level of chemical entity in blood plasma", - "s-block molecular entity", - "amino acid", - "molecule", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of organic acid in urine", - "carboxamide", - "Generalized aminoaciduria", - "Short stature", - "abnormally decreased functionality of the anatomical entity", - "endocrine system", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "carboxylic acid", "increased level of chemical entity in independent continuant", "Abnormal urine pH", - "carboxylic acid", + "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", - "abnormal vitamin D metabolic process", - "Abnormality of the urinary system physiology", - "hydroxycalciol", "increased independent continuant hormone level", - "increased independent continuant base level", - "Abnormality of the urinary system", - "Aciduria", - "organic molecule", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "increased level of organic molecular entity in independent continuant", - "abnormality of multicellular organism height", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "primary metabolic process", - "glandular system", - "organic molecular entity", - "increased level of chemical entity in urine", - "increased level of amino acid in urine", - "increased level of chemical entity in bodily fluid", - "abnormal role urine level", - "organic substance metabolic process", + "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 urine protein level", - "abnormal hormone blood level", - "polycyclic compound", - "carbohydrates and carbohydrate derivatives", - "organic hydroxy compound", - "abnormal small molecule metabolic process", - "abnormal renal system", - "vitamin D", + "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", - "Abnormality of vitamin metabolism", + "material anatomical entity", + "lipid", "abnormal primary metabolic process", "increased level of calcitriol in blood", - "Phenotypic abnormality", - "Abnormal circulating lipid concentration", - "excreta", - "organic oxo compound", - "abnormal metabolic process", - "abnormal lipid level", - "increased level of parathyroid hormone in blood", - "hydroxy steroid" + "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:0014275", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", + "name": "Fanconi renotubular syndrome 1", "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"], + "description": null, + "xref": ["DOID:0080757", "OMIM:134600"], "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" + "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:0001510", - "HP:0003259", + "HP:0003648", + "HP:0001324", + "HP:0002749", + "HP:0002148", + "HP:0000124", "HP:0003109", + "HP:0002900", "HP:0002748", - "HP:0002979", + "HP:0034359", "HP:0003076", - "HP:0000083", - "HP:0004322", + "HP:0003155", "HP:0003355", - "HP:0003126" + "HP:0004322", + "HP:0003126", + "HP:0000083" ], "has_phenotype_label": [ "Metabolic acidosis", - "Growth delay", - "Elevated circulating creatinine concentration", + "Lacticaciduria", + "Muscle weakness", + "Osteomalacia", + "Hypophosphatemia", + "Renal tubular dysfunction", "Hyperphosphaturia", + "Hypokalemia", "Rickets", - "Bowing of the legs", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", - "Renal insufficiency", - "Short stature", + "Elevated circulating alkaline phosphatase concentration", "Aminoaciduria", - "Low-molecular-weight proteinuria" + "Short stature", + "Low-molecular-weight proteinuria", + "Renal insufficiency" ], "has_phenotype_closure": [ + "CHEBI:37622", + "UPHENO:0068247", "UPHENO:0068565", - "UPHENO:0051801", - "CHEBI:15841", - "HP:0000093", "CHEBI:16541", - "UPHENO:0068247", + "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:36586", - "UPHENO:0068495", - "CHEBI:50047", - "CHEBI:33575", + "HP:0003355", "CHEBI:24651", + "CHEBI:33575", + "UPHENO:0068495", "UPHENO:0046286", - "UPHENO:0051930", - "HP:0003355", - "CHEBI:36587", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068091", "HP:0031980", - "UPHENO:0051670", - "HP:0012072", - "HP:0032943", "CHEBI:33709", - "UPHENO:0081424", - "UPHENO:0069254", - "UPHENO:0075159", + "CHEBI:50047", + "HP:0004379", + "UPHENO:0081777", "UPHENO:0068971", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0005173", - "UBERON:0000916", - "UPHENO:0075195", - "UPHENO:0086132", - "UBERON:0000489", - "HP:0012211", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011676", - "UPHENO:0075902", - "CHEBI:33674", - "UPHENO:0068058", - "HP:0000077", - "CHEBI:78616", - "UPHENO:0052116", - "CHEBI:17234", - "CHEBI:35381", - "CHEBI:18133", - "UPHENO:0081544", - "CHEBI:15693", - "UPHENO:0041258", - "HP:6000531", - "UPHENO:0068352", - "UPHENO:0079534", - "CHEBI:50860", - "CHEBI:23443", - "CHEBI:24532", - "CHEBI:37622", - "UPHENO:0001001", - "CHEBI:16646", - "CHEBI:38304", - "UPHENO:0068064", - "CHEBI:72695", - "GO:0008150", - "UBERON:0002193", - "CHEBI:33675", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0076740", - "UPHENO:0082467", - "HP:0012100", - "CHEBI:32988", - "UPHENO:0002411", - "HP:0002981", + "CHEBI:33695", + "UPHENO:0082943", + "PR:000064867", "CHEBI:35352", - "UPHENO:0077826", - "CHEBI:38101", - "UPHENO:0081550", - "UPHENO:0041573", - "UPHENO:0076703", - "CHEBI:33661", - "UPHENO:0001002", - "GO:0008152", + "UPHENO:0075666", + "CHEBI:51143", + "CHEBI:33694", + "UPHENO:0046362", + "HP:0012379", + "PR:000018263", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", + "HP:0033354", + "UPHENO:0068054", + "CHEBI:33285", + "CHEBI:50860", "CHEBI:36962", - "UPHENO:0002830", + "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:0068049", - "CHEBI:51143", - "UPHENO:0051640", - "UPHENO:0081546", + "UPHENO:0050080", + "GO:0001503", + "HP:0000118", + "UBERON:0001434", + "UBERON:0002204", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "HP:0004349", + "BFO:0000040", + "UPHENO:0082834", + "UPHENO:0034391", "HP:0004360", - "HP:0430071", - "BFO:0000020", - "UPHENO:0068491", - "UPHENO:0012541", - "CHEBI:36360", - "UPHENO:0051763", - "UPHENO:0041098", - "UPHENO:0078550", - "HP:0004364", - "BFO:0000004", - "UPHENO:0051753", - "UPHENO:0068346", - "UPHENO:0051894", - "UPHENO:0086956", - "CHEBI:36963", - "UPHENO:0068442", - "CHEBI:24995", - "CHEBI:38261", + "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", + "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:0001977", - "UBERON:0000178", - "HP:0000118", - "UPHENO:0068089", + "UBERON:0000383", "UPHENO:0001005", - "CHEBI:33832", - "UBERON:0000468", - "HP:0000002", - "HP:0033354", - "HP:0002157", - "CHEBI:55370", + "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:0081547", - "HP:0012337", - "HP:0032180", - "UPHENO:0082536", - "HP:0001992", - "UBERON:0002390", - "UBERON:0010000", - "UBERON:0010363", - "HP:0001942", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0006487", - "UPHENO:0068538", - "UBERON:0004120", - "HP:0040064", - "UPHENO:0068144", - "UBERON:0010707", - "UPHENO:0002964", - "UBERON:0002101", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "UPHENO:0001002", + "CHEBI:60242", "UPHENO:0086128", "UPHENO:0049587", - "CHEBI:33595", - "CHEBI:24431", - "UPHENO:0000541", - "CHEBI:33285", - "CHEBI:25367", - "UPHENO:0076727", - "UPHENO:0079873", + "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", - "UPHENO:0031193", - "GO:0040007", - "CHEBI:33582", - "UBERON:0000465", - "UPHENO:0082539", - "PR:000050567", - "BFO:0000003", - "HP:0011844", - "UBERON:0004709", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0001001", "CHEBI:24833", "UBERON:0001008", "CHEBI:33839", "CHEBI:26079", - "CHEBI:33670", - "PATO:0000001", - "UPHENO:0002442", - "UBERON:0011249", - "UBERON:0000978", - "HP:0000001", - "CHEBI:16737", - "UPHENO:0076289", - "CHEBI:5686", - "BFO:0000002", - "UBERON:0001062", - "CHEBI:33256", - "CHEBI:33302", - "CHEBI:25693", - "UBERON:0000061", - "BFO:0000015", - "UBERON:0005055", - "UPHENO:0080659", - "UPHENO:0051668", - "CHEBI:33579", - "UPHENO:0081548", - "UPHENO:0015280", + "GO:0042592", + "UPHENO:0082539", "UPHENO:0082538", - "UBERON:0004769", - "UPHENO:0048707", - "HP:0011849", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:36357", - "UPHENO:0077821", - "HP:0003076", - "UPHENO:0000543", - "CHEBI:23367", - "BFO:0000040", - "UPHENO:0082834", - "HP:0004349", - "UBERON:0006314", - "UPHENO:0046284", - "UBERON:0003103", - "UPHENO:0068110", + "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:0049874", - "UBERON:0003823", + "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:0001507", - "CHEBI:37577", - "UBERON:0002417", - "UPHENO:0082129", - "HP:0001939", - "UBERON:0011216", - "UBERON:0001969", - "UBERON:0005172", - "UPHENO:0052038", - "HP:0020129", - "UPHENO:0046348", - "UBERON:0005177", - "UPHENO:0051847", - "CHEBI:36359", - "HP:0003110", - "UBERON:0001088", - "UPHENO:0051686", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0068292", - "UPHENO:0084654", - "CHEBI:26082", - "HP:0010935", - "UBERON:0004122", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0001474", - "HP:0011277", - "HP:0012599", + "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:0084763", - "HP:0000924", - "UBERON:0000174", - "GO:0001503", - "UPHENO:0081423", - "UPHENO:0002642", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "UBERON:0004708", - "UBERON:0001434", - "UBERON:0000062", - "HP:0000083", - "GO:0032501", - "UPHENO:0082835", - "UPHENO:0075696", - "HP:0011842", - "HP:0004348", - "UPHENO:0084653", - "UBERON:0002204", - "UPHENO:0068054", - "UPHENO:0020041", - "HP:0003330", - "UPHENO:0041610", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0068251", - "UBERON:0004288", - "UBERON:0000064", - "HP:0002814", - "RO:0002577", - "UBERON:0034944", - "UPHENO:0002896", - "UPHENO:0080300", - "UPHENO:0004459", - "UBERON:0002428", - "UBERON:0005913", - "UBERON:0004381", - "UPHENO:0080352", - "UBERON:0000179", - "UBERON:0000026", - "HP:0033127", - "UPHENO:0086635", - "UBERON:0000475", - "UPHENO:0041536", - "UBERON:0002529", - "UPHENO:0086780", - "UBERON:0000075", - "UBERON:0010912", - "UBERON:0011582", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0004322", - "UBERON:0015061", - "CHEBI:33917", - "UBERON:0004375", - "UBERON:0002103", - "UBERON:0010538", - "UPHENO:0051630", - "UPHENO:0068190", - "UBERON:0010712", - "CHEBI:35605", - "UPHENO:0041591", - "UBERON:0002091", - "UPHENO:0031310", - "UPHENO:0020584", + "UPHENO:0002816", + "UBERON:0011143", + "HP:0011036", + "CHEBI:78616", + "HP:0000077", "UBERON:0013702", "CHEBI:33304", - "HP:0002813", - "HP:0011314", - "UPHENO:0080658", - "UBERON:0002495", - "HP:0000079", - "UBERON:0002513", - "UPHENO:0084767", - "UPHENO:0086628", - "UPHENO:0076285", - "UBERON:0015212", - "UBERON:0010709", - "UBERON:0006058", - "UPHENO:0041226", - "UPHENO:0075952", - "HP:0040068", - "HP:0002979", + "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:0002471", - "CHEBI:33608", - "HP:0000940", - "GO:0042592", - "UBERON:0034925", - "UPHENO:0068472", - "UBERON:0000154", - "HP:0003259", - "UBERON:0010758", - "UPHENO:0068040", - "UBERON:0008784", - "UPHENO:0077858", - "UPHENO:0003070", - "UBERON:0010740" - ], - "has_phenotype_closure_label": [ - "macromolecule", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "increased level of protein polypeptide chain in independent continuant", - "Abnormal urine protein level", - "peptide", - "increased level of carboxylic acid in independent continuant", - "organic amino compound", - "carboxylic acid", - "increased level of amino acid in urine", - "hydroxides", - "carbon oxoacid", - "carbonyl compound", - "abnormal independent continuant amino acid level", - "Abnormal urine pH", - "increased independent continuant base level", - "abnormal urine amino acid level", - "hydrogen molecular entity", - "increased level of organic acid in urine", - "amino acid", - "increased level of amino acid in independent continuant", - "increased level of organic acid in independent continuant", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Short stature", - "Abnormality of body height", - "decreased size of the anatomical entity in the independent continuant", - "decreased height of the multicellular organism", - "kidney", - "cavitated compound organ", - "abdomen element", - "Abnormality of the kidney", + "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", - "trunk region element", - "abnormal kidney", - "abdominal segment of trunk", - "trunk", - "abdomen", - "Abnormality of the upper urinary tract", "non-functional kidney", "non-functional anatomical entity", - "main body axis", - "subdivision of organism along main body axis", + "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 urine metabolite level", - "body proper", - "increased level of glucose in urine", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "abnormal role urine level", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", - "glucose", - "aldose", - "hexose", - "abnormal urine glucose level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormal phosphate level", - "abnormality of kidney physiology", - "main group molecular entity", - "increased level of creatinine in independent continuant", - "primary amide", - "abnormal blood nitrogen molecular entity level", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "decreased height of the anatomical entity", - "abnormal metabolite independent continuant level", - "organonitrogen heterocyclic compound", - "abnormal shape of continuant", - "molecule", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", + "abnormal independent continuant glucose level", + "increased level of monosaccharide in urine", + "organic molecular entity", "oxygen molecular entity", - "anatomical system", - "abnormal independent continuant carbohydrate level", - "organic molecule", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "organooxygen compound", - "upper urinary tract", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "blood plasma", + "increased level of organic molecular entity in independent continuant", + "Abnormal urine metabolite level", + "Hypophosphatemia", + "monoatomic ion", "decreased size of the anatomical entity", "blood", - "abdominal segment element", - "Glycosuria", - "Abnormal bone ossification", - "hindlimb", - "organic molecular entity", - "heteromonocyclic compound", - "haemolymphatic fluid", - "multicellular organism", - "hematopoietic system", - "increased level of nitrogen molecular entity in blood", - "abnormal blood chemical entity level", - "imidazolidines", - "increased level of chemical entity in blood serum", - "urine", - "increased level of creatinine in blood serum", - "excretory system", - "imidazolidinone", - "Abnormal circulating creatinine concentration", - "increased level of chemical entity", - "heteroorganic entity", - "abnormal role blood serum level", - "phosphorus molecular entity", - "Azotemia", - "cyclic amide", - "paired limb/fin segment", + "inorganic ion", "pnictogen molecular entity", - "abnormal blood serum chemical entity level", - "curved long bone", - "phenotype by ontology source", - "growth", - "monocyclic compound", - "Abnormal bone structure", - "organic cyclic compound", - "phenotype", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "long bone", - "increased independent continuant acid level", - "chemical entity", - "material anatomical entity", - "Metabolic acidosis", - "Abnormal renal physiology", - "chalcogen molecular entity", - "s-block molecular entity", - "increased level of chemical entity in blood plasma", - "Elevated circulating creatinine concentration", - "abnormal independent continuant creatinine level", - "molecular entity", - "Abnormality of blood and blood-forming tissues", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "inorganic ion homeostasis", + "Reduced bone mineral density", "organism substance", - "increased level of chemical entity in blood", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "abnormal role independent continuant level", - "process", - "abnormal blood plasma chemical entity level", - "multi-limb segment region", - "bodily fluid", - "abnormal urine phosphate level", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "independent continuant", - "abnormal growth", - "genitourinary system", - "abnormal blood creatinine level", - "abnormal acid independent continuant level", - "organic heteromonocyclic compound", - "oxoacid", - "delayed biological_process", - "limb skeleton subdivision", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "carbon group molecular entity", - "increased blood serum role level", - "abnormal acid bodily fluid level", - "organic oxo compound", - "excreta", - "phosphorus oxoacid derivative", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "curvature anatomical entity in independent continuant", - "anatomical structure", + "primary amide", + "elemental molecular entity", + "decreased level of chemical entity in blood", + "phenotype by ontology source", "polypeptide", - "abnormal limb", "Abnormality of bone mineral density", - "Bowing of the long bones", - "Acidosis", - "material entity", - "Phenotypic abnormality", - "Hyperphosphaturia", - "Abnormal circulating organic compound concentration", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", - "delayed growth", + "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", - "posterior region of body", + "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", - "blood serum", "increased level of chemical entity in independent continuant", - "metabolic process", + "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", - "Elevated urinary carboxylic acid", - "skeleton", - "anatomical entity", - "carboxamide", - "endochondral element", + "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", - "appendicular skeleton", + "abnormal anatomical entity", + "Metabolic acidosis", + "decreased level of potassium atom in blood", "Abnormality of acid-base homeostasis", - "Abnormal homeostasis", - "organochalcogen compound", - "homeostatic process", - "abnormal hindlimb zeugopod morphology", - "appendage girdle complex", - "organic heterocyclic compound", - "organic acid", - "Abnormal circulating metabolite concentration", - "ossification", - "abnormal hindlimb zeugopod", - "organism subdivision", - "protein polypeptide chain", - "continuant", - "cyclic compound", - "appendage", - "organonitrogen compound", - "polyatomic entity", + "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", - "lactam", - "increased independent continuant role level", - "creatinine", - "subdivision of skeletal system", - "entity", + "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", - "Growth abnormality", - "increased blood role level", - "leg", - "Abnormality of the skeletal system", - "Bowing of the legs", - "abnormal independent continuant phosphate level", - "abnormal leg", - "All", - "anatomical collection", - "Growth delay", - "diaphysis", - "renal system", - "abnormal urine chemical entity level", - "Abnormality of the urinary system physiology", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "zone of bone organ", - "abnormality of anatomical entity physiology", - "compound organ", + "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", - "quality", - "abnormality of renal system physiology", - "phosphoric acid derivative", - "abnormal renal system", - "hindlimb zeugopod", - "Abnormal long bone morphology", - "increased level of phosphate in urine", + "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", - "Aciduria", - "Abnormality of the urinary system", - "abnormal genitourinary system", - "abnormal hindlimb morphology", + "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", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "increased level of phosphate in independent continuant", - "abnormal skeletal system", - "Abnormal skeletal morphology", - "Proteinuria", - "protein-containing material entity", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", + "alkali metal cation", + "musculature", + "decreased role blood level", "hemolymphoid system", "Rickets", - "abnormal independent continuant glucose level", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal hindlimb zeugopod, curved", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal anatomical entity mass density", - "heterocyclic compound", - "skeletal system", - "multicellular organismal process", - "organ part", - "abnormal size of multicellular organism", - "bone element", - "Decreased anatomical entity mass density", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "increased level of monosaccharide in independent continuant", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", - "diazolidine", - "Reduced bone mineral density", - "Abnormality of the lower limb", - "curved anatomical entity in independent continuant", - "abnormal appendicular skeleton morphology", - "limb bone", - "skeleton of limb", - "abnormal anatomical entity morphology in the independent continuant", - "increased level of protein polypeptide chain in urine", - "limb segment", - "abnormal anatomical entity, curved", - "curved anatomical entity", - "abnormal long bone morphology", - "aldohexose", - "zone of organ", - "shape anatomical entity in independent continuant", - "limb", - "pelvic appendage", - "zone of long bone", - "Abnormality of the calf", - "paired limb/fin", - "subdivision of organism along appendicular axis", - "heteroatomic molecular entity", - "paired limb/fin skeleton", - "limb endochondral element", - "bone of free limb or fin", - "abnormal limb bone morphology", - "lateral structure", - "curved hindlimb zeugopod", - "system", + "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", - "Abnormal appendicular skeleton morphology", - "amide", - "Abnormality of limb bone", - "Organic aciduria", - "Abnormal diaphysis morphology", - "subdivision of skeleton", - "endochondral bone", - "pelvic complex", - "abnormal chemical entity level", - "appendicular skeletal system", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lower limb segment", - "skeletal element", - "zeugopod", - "nitrogen molecular entity", - "abnormal limb morphology", - "abnormal diaphysis morphology", - "increased bodily fluid role level", - "biological_process", - "carbohydrate" + "hexose", + "organooxygen compound", + "heteroorganic entity", + "body proper", + "increased level of glucose in urine" ], - "has_phenotype_count": 11, - "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, + "has_phenotype_count": 16, "highlight": null, "score": null }, { - "id": "MONDO:0024525", + "id": "MONDO:0014275", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", + "name": "Fanconi renotubular syndrome 3", "full_name": null, "deprecated": null, - "description": null, - "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", "OMIM:615605", "UMLS:C3810100"], "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" + "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:0002749", "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0003155", - "HP:0002148", - "HP:0000124", + "HP:0001510", + "HP:0003259", "HP:0003109", - "HP:0002900", "HP:0002748", - "HP:0034359", + "HP:0002979", "HP:0003076", - "HP:0003355", + "HP:0000083", "HP:0004322", - "HP:0003126", - "HP:0000083" + "HP:0003355", + "HP:0003126" ], "has_phenotype_label": [ - "Osteomalacia", "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", - "Hypophosphatemia", - "Renal tubular dysfunction", + "Growth delay", + "Elevated circulating creatinine concentration", "Hyperphosphaturia", - "Hypokalemia", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Bowing of the legs", "Glycosuria", - "Aminoaciduria", + "Renal insufficiency", "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency" + "Aminoaciduria", + "Low-molecular-weight proteinuria" ], "has_phenotype_closure": [ + "UPHENO:0068247", + "HP:0000093", "UPHENO:0068565", - "CHEBI:37622", - "CHEBI:15841", - "CHEBI:32988", "CHEBI:16541", - "UPHENO:0068247", + "UPHENO:0051801", + "CHEBI:15841", "CHEBI:16670", - "GO:0040007", - "UPHENO:0081424", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0049874", - "UPHENO:0020584", - "UPHENO:0069254", - 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"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": [ - "Renal insufficiency", - "non-functional kidney", - "non-functional anatomical entity", - "carboxamide", - "increased level of protein polypeptide chain in urine", - "abnormal independent continuant protein polypeptide chain level", - "Low-molecular-weight proteinuria", - "amide", + "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", - "peptide", - "growth", - "Growth delay", - "Abnormality of body height", - "decreased size of the anatomical entity in the independent continuant", - "Growth abnormality", - "delayed growth", - "abnormal anatomical entity morphology in the independent continuant", - "decreased height of the multicellular organism", - "increased level of carboxylic acid in independent continuant", "carboxylic acid", - "molecule", - "increased level of amino acid in urine", - "hydroxides", - "organic molecule", - "carbonyl compound", - "abnormal size of anatomical entity", - "abnormal amino acid level", - "Organic aciduria", - "abnormal urine amino acid level", - "increased level of organic acid in urine", - "increased level of nitrogen molecular entity in independent continuant", + "abnormal independent continuant amino acid level", + "increased level of carboxylic acid in independent continuant", "amino acid", - "Elevated urinary carboxylic 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 urine metabolite level", - "carbohydrates and carbohydrate derivatives", - "increased level of monosaccharide in urine", - "oxygen molecular entity", - "organooxygen compound", + "abnormal role urine level", + "abnormal independent continuant carbohydrate level", "Abnormal urinary organic compound level", - "abnormal independent continuant glucose level", - "aldohexose", - "increased level of organic molecular entity in independent continuant", + "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", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", - "monosaccharide", - "abnormal renal system process", - "renal absorption", - "abnormal renal absorption", - "abnormal independent continuant amino acid level", - "renal system process", + "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", - "protein-containing molecular entity", - "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", - "pnictogen molecular entity", - "abnormality of muscle organ physiology", - "increased level of protein", - "increased level of glucose in urine", - "body proper", - "decreased muscle organ strength", - "polypeptide", - "Abnormality of bone mineral density", - "anatomical structure", - "anatomical conduit", - "abdominal segment of trunk", - "musculature of body", - "monoatomic cation", - "Abnormality of the upper urinary tract", - "chemical substance", - "abnormal independent continuant potassium atom level", - "increased independent continuant base level", - "muscle organ", - "anatomical entity dysfunction in independent continuant", - "rac-lactic acid", - "increased level of rac-lactic acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "decreased anatomical entity strength", - "mixture", - "epithelial tube", - "organic oxo compound", - "excreta", - "abnormal acid bodily fluid level", - "monoatomic monocation", - "Abnormality of the urinary system", "Aciduria", - "abnormal blood potassium atom level", - "abnormality of anatomical entity height", - "metal atom", - "increased level of rac-lactic acid in independent continuant", - "skeletal element", - "cavitated compound organ", - "delayed biological_process", - "oxoacid", - "Osteomalacia", - "chemical entity", - "increased independent continuant acid level", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", + "Abnormality of the urinary system", + "oxygen molecular entity", + "increased level of creatinine in blood", "increased bodily fluid acid level", - "abnormal blood monoatomic ion level", - "decreased level of potassium atom in blood", - "Metabolic acidosis", - "homeostatic process", - "protein", - "phenotype by ontology source", - "decreased level of chemical entity in blood", - "decreased size of the multicellular organism", - "Decreased bone element mass density", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "alkali metal molecular entity", - "entity", - "Phenotypic abnormality", - "Hyperphosphaturia", - "abnormal anatomical entity mass density", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "epithelium", - "abnormality of anatomical entity physiology", - "abnormally decreased functionality of the nephron tubule", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "Abnormal bone structure", - "anatomical system", - "potassium(1+)", - "All", - "abnormal growth", - "independent continuant", - "abnormal anatomical entity", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", "decreased height of the anatomical entity", "abnormal metabolite independent continuant level", - "abnormal size of multicellular organism", - "bone element", - "Abnormal renal tubular resorption", - "anatomical entity", - "multicellular anatomical structure", - "heteroorganic entity", - "abnormal bone element mass density", - "decreased role independent continuant level", - "Muscle weakness", - "organ part", - "abnormal musculature", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", - "abnormal potassium atom level", - "abnormal renal system", - "process", - "Abnormality of acid-base homeostasis", - "tube", - "potassium molecular entity", - "genitourinary system", - "atom", - "carbohydrate", - "increased bodily fluid role level", - "biological_process", - "renal tubule", - "carbon group molecular entity", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "protein polypeptide chain", - "continuant", - "nephron", - "amino acid chain", - "tissue", - "Abnormal circulating enzyme concentration or activity", - "organism subdivision", + "increased level of chemical entity in blood serum", "urine", - "material entity", - "organic amino compound", - "Acidosis", + "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", - "inorganic cation", - "Glycosuria", - "information biomacromolecule", - "abdominal segment element", - "Abnormal bone ossification", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "blood plasma", "decreased size of the anatomical entity", "blood", - "racemate", - "phosphate ion homeostasis", - "inorganic ion", - "abnormal genitourinary system", - "Aminoaciduria", - "organ system subdivision", - "primary amide", - "elemental molecular entity", - "nitrogen molecular entity", - "renal system", - "hydrogen molecular entity", - "nephron tubule", - "phenotype", - "Abnormality of the genitourinary system", - "Reduced bone mineral density", - "inorganic ion homeostasis", - "Impaired renal tubular reabsorption of phosphate", - "multicellular organism", - "hematopoietic system", - "abnormal monoatomic cation homeostasis", - "alkaline phosphatase, tissue-nonspecific isozyme", - "nephron epithelium", - "polyatomic entity", - "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", - "organochalcogen compound", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", + "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", - "biomacromolecule", - "Abnormality of urine homeostasis", - "upper urinary tract", - "occurrent", - "organ", - "skeletal system", + "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 blood chemical entity level", - "macromolecule", - "material anatomical entity", - "muscle structure", + "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", - "Abnormality of metabolism/homeostasis", - "abnormal monoatomic ion homeostasis", - "abnormal role blood level", - "organism substance", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "main group molecular entity", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "chemical homeostasis", - "abnormal independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "decreased level of potassium atom in independent continuant", - "decreased level of phosphate in blood", - "phosphorus oxoacid derivative", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "abnormal chemical homeostasis", - "abnormal protein level", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "abdomen element", - "haemolymphatic fluid", - "ion", - "abnormal homeostatic process", - "multicellular organismal process", - "abnormal blood phosphate level", - "Hypophosphatemia", - "monoatomic ion", + "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", - "potassium atom", - "Proteinuria", - "abnormal skeletal system morphology", - "protein-containing material entity", - "molecular entity", + "lactam", + "increased independent continuant role level", "Abnormality of blood and blood-forming tissues", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", - "trunk", - "phosphorus molecular entity", - "heteroatomic molecular entity", - "abnormal acid independent continuant level", - "monoatomic entity", - "abnormal phenotype by ontology source", - "subdivision of trunk", - "organic acid", - "ossification", - "Abnormal circulating metabolite concentration", - "main body axis", - "excretory system", - "abnormal independent continuant monoatomic ion level", - "musculoskeletal system", - "abnormal upper urinary tract", - "uriniferous tubule", - "subdivision of organism along main body axis", - "phosphorus oxoacids and derivatives", - "Abnormal blood phosphate concentration", - "kidney epithelium", - "compound organ", - "abdomen", - "Renal tubular dysfunction", - "abnormal kidney", - "trunk region element", - "Abnormality of the kidney", - "lateral structure", - "chalcogen molecular entity", + "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", - "Short stature", - "inorganic molecular entity", - "abnormally decreased functionality of the anatomical entity", - "excretory tube", - "kidney", + "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", - "mesoderm-derived structure", - "Abnormal urinary electrolyte concentration", - "musculature", - "decreased role blood level", - "abnormal role independent continuant level", - "metal cation", - "monovalent inorganic cation", - "s-block molecular entity", - "s-block element atom", - "Abnormal blood cation concentration", - "organonitrogen compound", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium(1+) level", - "carbon oxoacid", - "Abnormal blood potassium concentration", - "abnormal multicellular organism chemical entity level", - "phosphate", - "alkali metal cation", - "elemental potassium", - "Hypokalemia", - "Abnormal blood monovalent inorganic cation concentration", - "monoatomic cation homeostasis", - "cation", - "alkali metal atom", + "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", - "abnormality of multicellular organism height", - "Abnormal urine carboxylic acid level", - "decreased level of chemical entity", - "abnormal phosphate level", - "system process" + "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": 16, + "has_phenotype_count": 11, "highlight": null, "score": null }, @@ -7593,13 +7593,13 @@ "has_phenotype": [ "HP:0002857", "HP:0045051", - "HP:0002097", "HP:0002148", "HP:0002206", "HP:0004912", "HP:0004918", "HP:0000093", "HP:0003076", + "HP:0002097", "HP:0003355", "HP:0005576", "HP:0003774", @@ -7609,13 +7609,13 @@ "has_phenotype_label": [ "Genu valgum", "Decreased DLCO", - "Emphysema", "Hypophosphatemia", "Pulmonary fibrosis", "Hypophosphatemic rickets", "Hyperchloremic metabolic acidosis", "Proteinuria", "Glycosuria", + "Emphysema", "Aminoaciduria", "Tubulointerstitial fibrosis", "Stage 5 chronic kidney disease", @@ -7624,292 +7624,295 @@ ], "has_phenotype_closure": [ "HP:0100526", - "HP:0011793", "HP:0002664", - "UBERON:0000477", + "HP:0011793", + "UBERON:0000055", "UBERON:0034923", "HP:0002597", - "UPHENO:0002678", "UBERON:0002049", "UBERON:0001009", - "UBERON:0000055", - "HP:0001626", - "HP:0000822", + "UPHENO:0002678", "UBERON:0004535", "UBERON:0001981", + "UBERON:0000477", + "HP:0000822", "HP:0030972", - "HP:0012622", + "HP:0001626", "UPHENO:0086132", "HP:0003774", "HP:0012211", - "UPHENO:0076779", - "UBERON:0004819", + "HP:0012622", + "UBERON:0000479", "HP:0012210", - "UBERON:0002113", - "UBERON:0011143", - "UPHENO:0076714", - "UBERON:0005173", - "UBERON:0000916", "UBERON:0005172", - "UBERON:0000489", "UBERON:0009773", "UBERON:0007684", "UBERON:0004211", + "UBERON:0000916", "HP:0000091", - "UBERON:0000479", + "UBERON:0000489", + "UBERON:0005173", + "UPHENO:0076779", + "UPHENO:0076714", + "UBERON:0004819", "HP:0030760", - "UPHENO:0075902", "UBERON:0001231", - "UPHENO:0068169", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075902", + "UPHENO:0051670", "CHEBI:36586", - "UPHENO:0068495", - "CHEBI:33575", - "UPHENO:0076756", - "CHEBI:25367", - "CHEBI:24651", - "UBERON:0004537", - "UPHENO:0046286", - "UPHENO:0051930", - "UPHENO:0051739", "CHEBI:36587", - "HP:0031980", - "UPHENO:0051670", + "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", - "CHEBI:33674", - "UPHENO:0068058", + "UPHENO:0076756", + "CHEBI:25367", + "HP:0002097", "HP:0000077", "CHEBI:78616", "UPHENO:0051635", - "UPHENO:0052116", "HP:6000531", + "CHEBI:18133", + "CHEBI:33674", + "UPHENO:0068058", "CHEBI:17234", "CHEBI:35381", "CHEBI:16646", - "CHEBI:18133", - "UPHENO:0002442", - "UPHENO:0068565", + "UPHENO:0052116", "CHEBI:37622", "CHEBI:50047", - "CHEBI:15841", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0068247", + "UBERON:0001088", + "UPHENO:0002442", + "UPHENO:0068565", "HP:0011277", + "HP:0033354", + "CHEBI:16541", "HP:0010935", "UBERON:0004122", "UBERON:8450002", - "HP:0033354", + "UPHENO:0068538", "CHEBI:33285", "CHEBI:32988", "CHEBI:35352", + "UPHENO:0051686", + "CHEBI:50860", "HP:0032581", "CHEBI:36962", "CHEBI:51143", - "UPHENO:0051686", - "CHEBI:16541", - "UBERON:0001088", - "CHEBI:50860", - "UPHENO:0068247", - "CHEBI:15693", - "UPHENO:0081544", + "CHEBI:15841", "HP:0000119", "UPHENO:0082542", - "CHEBI:16670", "CHEBI:24833", "UBERON:0001008", - "UPHENO:0068538", - "UBERON:0003914", - "CHEBI:64709", - "UPHENO:0079536", - "UPHENO:0082539", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0082467", - "UBERON:0011676", - "UBERON:0000072", - "UBERON:0010740", + "CHEBI:16670", "UPHENO:0068040", "UBERON:0008784", - "UBERON:0004288", - "UBERON:0010758", + "UPHENO:0068089", + "UBERON:0000170", + "HP:0006487", + "UPHENO:0004536", + "UBERON:0000062", + "UPHENO:0041610", + "UBERON:0010912", + "UBERON:0011582", + "UBERON:0000075", "UBERON:0000061", - "UPHENO:0041098", - "UPHENO:0002830", - "UBERON:0011249", - "UPHENO:0001003", - "UPHENO:0002642", - "HP:0100491", - "UPHENO:0081548", - "UPHENO:0015280", - "HP:0003110", - "CHEBI:36359", - "UBERON:0000174", - "HP:0000924", - "UPHENO:0041226", - "UBERON:0010363", - "UBERON:0010709", "UPHENO:0068054", "UPHENO:0020041", "UPHENO:0075945", "UPHENO:0084767", - "UPHENO:0031310", - "UPHENO:0020584", + "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", - "UPHENO:0002964", - "UBERON:0002101", - "UPHENO:0068144", - "UBERON:0010707", "UBERON:0004120", "HP:0040064", + "UPHENO:0068144", + "UBERON:0010707", "HP:0011025", "HP:0001969", "UBERON:0005055", "BFO:0000015", - "UPHENO:0086628", - "UBERON:0002529", "UPHENO:0041536", - "UPHENO:0076727", - "BFO:0000020", - "UPHENO:0068491", - "CHEBI:36360", - "HP:0100606", - "UPHENO:0084763", - "UPHENO:0001005", - "UBERON:0005913", - "UPHENO:0041610", - "UBERON:0000062", - "HP:0012575", - "UPHENO:0081550", + "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:0000001", - "UBERON:0004111", - "UBERON:0006058", - "HP:0033127", - "UPHENO:0086635", - "BFO:0000004", - "UBERON:0000026", - "UBERON:0000179", - "UBERON:0004381", - "UBERON:0011582", - "UBERON:0010912", - "UPHENO:0001002", "HP:0034669", "HP:0020129", "UPHENO:0046348", "HP:0006530", - "BFO:0000002", + "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", - "UPHENO:0086956", - "UPHENO:0002885", - "UPHENO:0076692", - "UPHENO:0002536", + "UBERON:0000174", + "HP:0000924", + "UBERON:0010709", "UBERON:0000154", + "UPHENO:0086628", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0004288", + "HP:0012575", + "UPHENO:0081550", "UPHENO:0076703", - "HP:0002814", - "UPHENO:0051801", - "UBERON:0001465", - "UPHENO:0076767", - "UBERON:0034944", - "UPHENO:0080300", - "UPHENO:0002896", - "HP:0012252", - "HP:0000118", - "UPHENO:0031193", - "UBERON:0000178", + "UPHENO:0003070", + "CHEBI:25806", + "UPHENO:0082449", + "HP:0000079", + "UBERON:0002513", "UBERON:0001062", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0005178", - "UBERON:0011216", - "UBERON:0004770", - "UBERON:0002417", - "UPHENO:0082129", - "CHEBI:37577", + "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", - "BFO:0000001", - "UBERON:0001434", - "UPHENO:0076299", - "UBERON:0004708", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0002748", - "HP:0040068", - "UPHENO:0075952", - "UPHENO:0002411", - "HP:0002981", - "UBERON:0006555", - "UPHENO:0086780", - "UBERON:0010538", - "HP:0003076", - "UBERON:0013522", - "HP:0006487", - "UPHENO:0004536", + "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", - "UBERON:0010712", - "UPHENO:0034253", "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", - "HP:0000079", - "UBERON:0002513", - "UBERON:0000075", - "UPHENO:0003070", - "CHEBI:25806", - "UPHENO:0082449", - "HP:0011314", - "UBERON:0015061", - "UPHENO:0077858", - "CHEBI:35605", - "UBERON:0002091", - "UPHENO:0041591", - "UPHENO:0002406", - "BFO:0000040", - "UPHENO:0082834", - "HP:0004349", - "HP:0002815", - "CHEBI:33917", - "UBERON:0004375", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UBERON:0002103", - "UBERON:0015212", - "UPHENO:0041258", - "UBERON:0005177", - "UPHENO:0051847", - "CHEBI:33582", - "UBERON:0000465", - "UBERON:0004769", - "UPHENO:0082538", + "UPHENO:0002448", "UBERON:0001004", + "HP:0045051", + "HP:0002086", + "GO:0001503", + "GO:0008150", + "UPHENO:0041573", + "HP:0030878", "UPHENO:0087427", "UPHENO:0078554", "UPHENO:0002332", "CHEBI:33259", - "UPHENO:0041573", - "HP:0030878", "HP:0045049", "UBERON:0000978", "HP:0100529", @@ -7918,60 +7921,26 @@ "UPHENO:0082875", "CHEBI:36963", "UPHENO:0051186", - "HP:0002086", - "GO:0001503", - "HP:0045051", - "GO:0008150", - "UPHENO:0002448", - "UBERON:0000475", - "UPHENO:0087433", - "UBERON:0001558", - "UBERON:0001285", - "UBERON:0013701", - "UBERON:0009569", - "HP:0002097", - "UPHENO:0068110", - "UBERON:0003103", - "CHEBI:33256", - "UBERON:0000025", - "CHEBI:24867", - "HP:0005576", - "UBERON:0001005", - "PATO:0000001", - "UBERON:0004905", - "HP:0002088", - "UPHENO:0020748", - "UBERON:0005181", - "UBERON:0002075", - "HP:0003355", - "UPHENO:0019970", + "UPHENO:0050080", + "HP:0002148", "UBERON:0007798", "CHEBI:33304", "HP:0002813", "UBERON:0013702", - "HP:0002148", - "UBERON:0002048", - "UBERON:0000171", - "UBERON:0004119", - "CHEBI:33302", - "UBERON:0034925", - "HP:0002795", - "GO:0042592", - "UPHENO:0087993", - "GO:0008152", + "HP:0003355", + "UPHENO:0019970", "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0080659", - "CHEBI:33579", - "UPHENO:0051668", - "UBERON:0003657", - "CHEBI:23367", - "HP:0032263", - "UPHENO:0046284", - "UBERON:0000915", - "UPHENO:0034391", - "HP:0004360", - "UPHENO:0050080", + "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", @@ -7982,178 +7951,211 @@ "GO:0032501", "UBERON:0003823", "HP:0001995", - "UBERON:0000065", - "HP:0032180", + "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", - "UPHENO:0049904", - "UPHENO:0066739", - "GO:0048878", + "UBERON:0000982", + "UPHENO:0034217", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:33675", + "UBERON:0002193", "UPHENO:0051763", "UPHENO:0080362", "UPHENO:0051937", - "HP:0004912", - "HP:0001941", - "UPHENO:0051804", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051960", - "UPHENO:0034351", - "UPHENO:0084654", "HP:0001939", - "CHEBI:33241", - "UPHENO:0049628", - "CHEBI:33238", + "HP:0003111", + "CHEBI:24431", + "UPHENO:0049904", + "UPHENO:0066739", + "CHEBI:33839", + "CHEBI:26079", + "GO:0048878", "HP:0040156", "HP:0002857", "UBERON:0000463", "CHEBI:26020", - "UBERON:0006314", - "CHEBI:33839", - "CHEBI:26079", - "UBERON:0000982", - "UPHENO:0034217", - "HP:0003111", - "CHEBI:24431", - "UPHENO:0079873", - "HP:0002206", + "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:0003330", "HP:0004918", - "UPHENO:0081547", - "HP:0012337", - "UBERON:0000170", - "UPHENO:0068089", "UPHENO:0076289", - "CHEBI:72695", - "UPHENO:0068064", "UBERON:0000483", - "UBERON:0002471", "HP:0002979", - "UPHENO:0082543" + "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", - "disconnected anatomical group", - "abnormal cardiovascular system", - "Hypertension", "Abnormal systemic blood pressure", - "abnormal vasculature", - "Chronic kidney disease", + "Hypertension", "Renal insufficiency", "non-functional kidney", - "excretory tube", - "cavitated compound organ", - "Abnormal renal morphology", - "abdomen element", - "tissue", - "anatomical cluster", - "abnormal kidney epithelium morphology", - "Abnormality of the kidney", + "abnormal vasculature", + "Chronic kidney disease", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "Abnormal renal insterstitial morphology", "renal tubule", "uriniferous tubule", "nephron epithelium", - "Abnormal renal insterstitial morphology", - "abnormal kidney", + "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", - "Increased blood pressure", - "Tubulointerstitial fibrosis", - "increased level of carboxylic acid in independent continuant", "carboxylic acid", - "molecule", - "increased level of amino acid in urine", - "hydroxides", - "organic molecule", + "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 independent continuant amino acid level", - "abnormal amino acid level", + "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", - "abnormal nephron tubule morphology", - "increased level of organic acid in urine", - "increased level of carboxylic acid in urine", - "amino acid", - "s-block molecular entity", - "oxoacid", - "increased level of organic acid in independent continuant", + "increased level of amino acid in urine", + "abnormal amino acid level", + "Emphysema", "increased level of glucose in independent continuant", - "abnormal metabolite independent continuant level", - "carbohydrates and carbohydrate derivatives", + "abnormal independent continuant carbohydrate level", + "Abnormal urinary organic compound level", "Lung adenocarcinoma", "increased level of monosaccharide in urine", - "Abnormal urinary organic compound level", + "abnormal metabolite independent continuant level", + "abnormal urine glucose level", "glucose", "aldose", "hexose", - "abnormal urine glucose level", - "increased level of monosaccharide in independent continuant", - "abnormal independent continuant carbohydrate level", "monosaccharide", - "Abnormal urine metabolite level", + "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", - "carboxamide", - "organic amino compound", "macromolecule", "abnormal genitourinary system", - "abnormal independent continuant protein polypeptide chain level", - "Aciduria", - "Abnormality of the urinary system", + "organic molecular entity", "oxygen molecular entity", + "organic oxo compound", + "excreta", + "increased independent continuant base level", "abnormal independent continuant nitrogen molecular entity level", - "abnormal renal system", - "heteroorganic entity", - "organooxygen compound", - "abnormal role urine level", - "vascular system", - "increased level of chemical entity in urine", "increased level of protein polypeptide chain in independent continuant", "upper urinary tract", "Abnormal tubulointerstitial morphology", "Abnormality of urine homeostasis", - "organic molecular entity", - "urine", - "Abnormality of the urinary system physiology", - "Abnormal urine protein level", - "organic oxo compound", - "excreta", - "increased independent continuant base level", - "renal system", "genitourinary system", - "abnormal shape of continuant", + "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", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "zone of bone organ", - "appendicular skeleton", - "pelvic complex", - "curvature anatomical entity in independent continuant", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "nephron", - "curved long bone", - "occurrent", - "organ", - "Stage 5 chronic kidney disease", - "mesoderm-derived structure", - "zone of long bone", - "Hyperchloremic metabolic acidosis", - "Emphysema", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", "skeletal system", "blood", "long bone", @@ -8161,122 +8163,153 @@ "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", - "Abnormal respiratory system physiology", - "homeostatic process", - "organochalcogen compound", - "Abnormal homeostasis", - "lower limb segment", - "abnormal skeletal joint morphology", + "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 by ontology source", - "amide", - "Abnormality of limb bone", - "anatomical entity", - "material entity", - "Abnormal appendicular skeleton morphology", - "Aminoaciduria", - "organ system subdivision", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal diaphysis morphology in the independent continuant", + "phenotype", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", "Proteinuria", - "abnormal skeletal system morphology", "protein-containing material entity", - "hindlimb", - "epithelium", - "system", - "subdivision of tube", - "abnormal anatomical 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", - "limb segment", "Abnormal joint morphology", - "increased level of amino acid in independent continuant", - "thoracic segment of trunk", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "Non-small cell lung carcinoma", - "skeletal joint", - "abnormal limb bone morphology", - "aldohexose", - "zone of organ", - "abnormal long bone morphology", - "organonitrogen compound", - "appendage", - "tube", - "Abnormality of acid-base homeostasis", + "limb segment", "organ part", "abnormal blood phosphate level", "multicellular organismal process", - "limb skeleton subdivision", - "paired limb/fin segment", - "Abnormality of the knee", - "abnormal lung morphology", - "subdivision of organism along appendicular axis", - "abnormal skeletal system", - "Abnormality of the lower limb", "curved anatomical entity in independent continuant", + "Abnormality of the lower limb", "abnormal appendicular skeleton morphology", "abnormal phenotype by ontology source", "subdivision of trunk", - "abnormal renal system morphology", - "abnormal hindlimb joint", - "All", - "anatomical collection", - "vessel", - "diaphysis", - "abnormal leg", - "non-functional anatomical entity", - "thoracic segment organ", - "subdivision of skeleton", - "endochondral bone", - "articular system", - "Hypophosphatemia", - "leg", - "monoatomic ion", + "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", - "shape anatomical entity in independent continuant", - "phenotype", - "abnormal upper urinary tract", - "curvature anatomical entity", - "musculoskeletal system", - "material anatomical entity", - "abnormal knee morphology", + "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", - "skeleton of limb", - "Abnormal pulmonary interstitial morphology", - "vasculature", - "Abnormal long bone morphology", - "hindlimb zeugopod", - "Abnormal urine carboxylic acid level", - "decreased level of chemical entity", - "abnormal phosphate level", + "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", - "curved hindlimb zeugopod", - "kidney", - "articulation", - "blood vessel", - "multi-limb segment region", "abnormal diaphysis morphology", "lateral structure", - "anatomical structure", - "Bowing of the long bones", - "anatomical conduit", - "polypeptide", - "abnormal limb", - "Abnormality of bone mineral density", - "endochondral element", - "hindlimb joint", - "trunk", - "oxoacid derivative", - "Abnormality of the calf", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal knee morphology", "Hyperchloremic acidosis", "Abnormal bone structure", "Abnormal renal physiology", @@ -8285,161 +8318,128 @@ "abnormal anatomical entity mass density", "decreased level of chemical entity in blood", "shape hindlimb zeugopod", - "Phenotypic abnormality", - "Elevated urinary carboxylic acid", - "skeleton", - "Neoplasm by anatomical site", - "p-block molecular entity", - "abnormality of cardiovascular system physiology", - "limb", - "curved anatomical entity", - "paired limb/fin", - "bone element", - "Renal fibrosis", - "abnormal hindlimb morphology", + "abnormal anatomical entity", + "abnormal shape of continuant", "independent continuant", - "multicellular anatomical structure", - "posterior region of body", - "Metabolic acidosis", - "zeugopod", - "skeletal element", - "appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "limb endochondral element", - "bone of free limb or fin", - "increased level of organic molecular entity in independent continuant", - "abnormal limb bone", - "shape long bone", - "lung fibrosis", - "Organic aciduria", - "Abnormal diaphysis morphology", - "Abnormal DLCO", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "abnormal urine chemical entity level", - "monoatomic ion homeostasis", - "Abnormal knee morphology", - "abnormality of respiratory system physiology", - "polyatomic entity", "epithelial tube", "respiratory system", "Abnormal skeletal morphology", "decreased level of phosphate in independent continuant", - "Abnormality of the respiratory system", - "abnormal respiratory system", + "abnormality of respiratory system physiology", + "polyatomic entity", "abnormality of anatomical entity physiology", - "lower respiratory tract", - "Abnormality of lower limb joint", - "anatomical system", - "Abnormal lung morphology", - "haemolymphatic fluid", - "subdivision of organism along main body axis", - "Bowing of the legs", - "Abnormality of the skeletal system", - "abnormal independent continuant phosphate level", - "lung", - "abnormal kidney morphology", - "main body axis", - "organic acid", - "abnormal hindlimb zeugopod", - "ossification", - "Abnormal circulating metabolite concentration", - "pelvic appendage", - "endoderm-derived structure", - "pair of lungs", - "abnormal respiratory system morphology", - "viscus", - "increased level of glucose in urine", - "Decreased DLCO", - "body proper", - "trunk region element", - "knee", - "Hypophosphatemic rickets", - "respiratory airway", - "multicellular organism", - "hematopoietic system", - "thoracic cavity element", - "abnormal monoatomic ion homeostasis", + "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 independent continuant carboxylic acid level", - "abnormal hematopoietic system", - "abnormal nephron morphology", - "Rickets", - "multi organ part structure", - "hemolymphoid system", - "abnormal bone element mass density", - "appendicular skeletal system", - "abnormal chemical entity level", + "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", - "abnormal role independent continuant level", - "inorganic ion homeostasis", - "Reduced bone mineral density", - "abnormal chemical homeostasis", - "pnictogen molecular entity", - "Abnormality of the musculoskeletal system", - "abnormal phosphate ion homeostasis", - "metabolic process", - "bodily fluid", - "abnormal blood monoatomic ion level", - "respiration organ", - "increased bodily fluid acid 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", - "organism substance", - "kidney epithelium", - "phosphorus oxoacids and derivatives", - "compound organ", - "Abnormal blood phosphate concentration", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "carbon group molecular entity", - "primary amide", - "elemental molecular entity", - "phosphorus oxoacid derivative", - "decreased level of phosphate in blood", - "ion", - "Abnormality on pulmonary function testing", - "proximo-distal subdivision of respiratory tract", - "abnormal homeostatic process", + "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", - "Neoplasm of the lung", - "abnormality of renal system physiology", - "quality", - "phosphoric acid derivative", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "metabolic process", + "bodily fluid", + "ion", "phosphorus molecular entity", - "decreased level of chemical entity in independent continuant", - "Abnormal cardiovascular system physiology", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", "paired limb/fin skeleton", "heteroatomic molecular entity", - "chemical entity", - "increased independent continuant acid level", - "phosphate", - "abnormal multicellular organism chemical entity level", + "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 level of chemical entity in bodily fluid", - "increased level of chemical entity", - "increased independent continuant role level", - "peptide", - "continuant", - "protein polypeptide chain", - "circulatory system", - "abnormal independent continuant monoatomic ion level", - "excretory system" + "increased independent continuant role level" ], "has_phenotype_count": 14, "highlight": null, @@ -8478,7984 +8478,5703 @@ "score": null }, { - "id": "MONDO:0014638", + "id": "MONDO:0010953", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", + "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 UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "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": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T 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:0004808", + "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:0005528", - "HP:0009942", - "HP:0001903", + "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:0010628" + "HP:0003214", + "HP:0003213", + "HP:0000085" ], "has_phenotype_label": [ - "Acute myeloid leukemia", + "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", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", - "Anemia", + "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", - "Facial palsy" + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney" ], "has_phenotype_closure": [ - "UPHENO:0080556", - "UBERON:0034713", - "UPHENO:0076702", - "HP:0001324", - "UPHENO:0076772", - "UBERON:0001021", - "UBERON:0005162", - "HP:0012638", - "HP:0011799", - "UBERON:0004473", - "UPHENO:0076710", - "HP:0001291", - "UPHENO:0086589", - 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"UBERON:0013700", - "UPHENO:0002896", - "UBERON:0011250", - "CL:0000458", - "CL:0000763", - "HP:0001873", - "UBERON:0002371", + "HP:0011025", + "HP:0000315", + "UPHENO:0087472", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UBERON:0000020", + "HP:0004312", + "HP:0001896", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", + "UPHENO:0046505", + "UPHENO:0088186", + "HP:0009381", + "UPHENO:0002433", + "CL:0000233", + "UPHENO:0026506", + "UBERON:0015061", + "UBERON:0003129", "UBERON:0010708", - "HP:0006265", - "HP:0009778", - "HP:0006496", - "UBERON:0001434", - "UPHENO:0085344", - "HP:0001881", - "HP:0040012", - "UBERON:0004765", - "UPHENO:0086005", - "UBERON:0000467", - "HP:0005922", - "UPHENO:0084987", - "UBERON:5001463", + "UBERON:0012139", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "CL:0000775", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0088176", + "UBERON:0019221", + "GO:0044848", + 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"UPHENO:0084761", - "CL:0002242", + "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", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0050845", - "HP:0004377", - "UBERON:0002390", - "UBERON:0010000", - "UBERON:0000479", - "UBERON:5006048", - "CL:0000255", - "GO:0010558", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", "UBERON:0008785", - "UPHENO:0004508", - "UBERON:0002193", - "HP:0009142", - "HP:0006824", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000026", - "UBERON:0001630", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0002844", - "UPHENO:0049587", - "UBERON:0019231", - "CL:0000988", - "UBERON:0008229", - "UBERON:0010959", - "UBERON:0000465", - "BFO:0000004", - "UBERON:0015024", + "CL:0000255", + "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:0074584", + "UBERON:0001442", + "HP:0012638", + "UPHENO:0079876", + "UPHENO:0053580", + "UBERON:0011143", "UBERON:0000062", - "HP:0011793", - "UBERON:0002544", - "BFO:0000020", - "UPHENO:0087123", - "HP:0001909", - "UBERON:0015063", + "UPHENO:0080099", + "CL:0000219", + "UPHENO:0085371", + "HP:0025354", + "UBERON:0000465", + "CL:0000988", + "HP:0012372", + "HP:0002060", + "BFO:0000003", "UBERON:5002389", "UPHENO:0086049", - "UBERON:0003607", - "UPHENO:0084928", - "UPHENO:0002948", - "HP:0004808", - "HP:0001871", - "UBERON:0001444", - "HP:0011842", - "UPHENO:0075696", - "UBERON:0002470", - "CL:0000000", - "UBERON:0012354", - "GO:0065007", - "UPHENO:0085070", - "HP:0009602", - "UBERON:0011779", - "UPHENO:0077426", - "UPHENO:0087006", - "UPHENO:0085984", - "UPHENO:0002903", - "HP:0011875", - "UBERON:0005451", - "UBERON:0012140", - "HP:0010628", - "UPHENO:0085195", + "PR:000050567", "UBERON:0012475", - "UPHENO:0087369", - "UBERON:0000475", - "UBERON:0012151", - "UPHENO:0080099", - "HP:0040064", - "HP:0001167", - "UBERON:0003606", - "UBERON:0010538", - "UPHENO:0005433", - "UPHENO:0080114", - "GO:0006325", - "HP:0011927", - "UPHENO:0085118", - "UPHENO:0012274", - "GO:0048519", - "HP:0011314", - "CL:0000225", - "UBERON:0010912", - "UPHENO:0052178", - "UPHENO:0002240", - "UBERON:0011582", - "HP:0000301", - "UPHENO:0080126", - "GO:0046483", - "UPHENO:0084766", - "UBERON:0015212", - "HP:0001155", - "HP:0004322", - "UBERON:0015061", - "UBERON:0005897", - "UBERON:0004375", - "UPHENO:0001003", - "UBERON:0006717", - "UBERON:0002495", - "UBERON:0002102", - "UPHENO:0086633", - "HP:0045060", - "GO:0071824", - "UPHENO:0021800", - "HP:0001172", - "UBERON:0000075", - "HP:0009815", - "UPHENO:0088186", - "UBERON:0010712", - "UBERON:0003221", - "UPHENO:0084763", - "UBERON:0012358", - "UPHENO:0049700", - "HP:0005927", - "UBERON:0004120", - "UBERON:0010543", - "UPHENO:0086045", - "UPHENO:0076727", - "GO:0031323", - "UBERON:0002513", - "UBERON:0019221", - "UBERON:0002529", - "UPHENO:0046707", - "UPHENO:0012541", - "UBERON:0012139", - "UPHENO:0086700", - "UBERON:0012357", - "UPHENO:0079876", - "UPHENO:0076740", - "GO:0044237", - "UBERON:0010363", - "UPHENO:0046624", - "UPHENO:0076723", - "HP:0040068", - "UPHENO:0075159", "UPHENO:0002880", - "HP:0001903", - "UBERON:0034925", - "UBERON:0004708", - "UBERON:5002544", - "CL:0000738", - "UBERON:0005881", - "UBERON:0010758", - "UPHENO:0079872", - "UPHENO:0046505", - "UPHENO:0075195", - "UPHENO:0084448", - "UBERON:0004710", - "UPHENO:0011498", - "UBERON:0004249", - "UBERON:0002389", - "UBERON:0001033", - "UBERON:0001690", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0087427", + "CL:0002242", + "UPHENO:0085405", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0087802", + "UPHENO:0088170", "UBERON:0010740", - "HP:0005528", - "UBERON:0010688", - "UBERON:5106048", - "UBERON:0004461", - "UBERON:0015021", - "UBERON:0018254", - "UPHENO:0086956", - "BFO:0000003", - "HP:0009942", - "HP:0031910", - "UBERON:5101463", - "UBERON:0011676", - "HP:0009997", - "UBERON:0015023", - "UBERON:0004381", - "UBERON:0008962", + "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", + "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", + "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:0002090", + "GO:0048232", + "UPHENO:0087907", + "HP:0006501", "UBERON:5102544", - "UPHENO:0046411", - "UBERON:0001436", - "UPHENO:0081700", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000033", + "HP:0000252", + "UPHENO:0075220", "UBERON:0015025", - "UBERON:0011216", - "UBERON:0012150", - "UPHENO:0081424", - "UBERON:0010741" - ], - "has_phenotype_closure_label": [ - "skeletal musculature", - "Abnormality of facial soft tissue", - "abnormal muscle organ morphology", - "cranial neuron projection bundle", - "Abnormality of the nervous system", - "decreased muscle organ strength", - "nerve", - "musculature of body", - "neuron projection bundle", - "Abnormal peripheral nervous system morphology", - "Weakness of facial musculature", - "Muscle weakness", - "abnormal peripheral nervous system morphology", - "abnormal nerve", - "decreased anatomical entity strength", - "facial muscle", - "cranial muscle", - "abnormal head morphology", - "subdivision of head", - "Abnormality of the seventh cranial nerve", - "Cranial nerve paralysis", - "Abnormal cranial nerve morphology", - "abnormal craniocervical region morphology", - "abnormal facial nerve", - "gustatory system", - "nervous system", - "nerve of head region", - "multi cell part structure", - "Abnormal skeletal muscle morphology", - "cranial or facial muscle", - "skeletal muscle organ, vertebrate", - "paralysed cranial nerve", - "abnormal nervous system", - "abnormal musculature", - "Abnormal cranial nerve physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "sensory perception of mechanical stimulus", - "sensory perception", - "decreased sensory perception of sound", - "Abnormality of the ear", - "Hearing abnormality", - "sensory system", - "abnormality of anatomical entity physiology", - "Abnormality of head or neck", - "abnormal peripheral nervous system", - "body proper", + "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", + "UBERON:0004710", + "UPHENO:0088162", + "GO:0050794", + "UPHENO:0085875", + "HP:0011121", + "HP:0001903", + "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" + ], + "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", - "changed biological_process rate", - "abnormality of ear physiology", - "musculature", - "Hearing impairment", - "main body axis", - "subdivision of organism along main body axis", - "nervous system process", - "Abnormality of the head", - "growth", - "delayed biological_process", - "Abnormality of the face", - "decreased height of the anatomical entity", - "Growth delay", - "decreased size of the multicellular organism", + "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", - "delayed growth", "decreased height of the multicellular organism", - "system process", "abnormality of multicellular organism height", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "negative regulation of biosynthetic process", - "regulation of macromolecule biosynthetic process", + "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 cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", - "regulation of macromolecule metabolic process", - "negative regulation of metabolic process", - "negative regulation of cellular 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", - "regulation of biological process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "Abnormality of the peripheral nervous system", - "decreased qualitatively biological_process", "abnormal cellular component organization", - "Abnormal muscle physiology", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "Abnormality of chromosome stability", - "abnormality of nervous system physiology", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Chromosomal breakage induced by crosslinking agents", + "Abnormality of DNA repair", + "abnormal organelle organization", "metabolic process", - "abnormal cellular 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", - "abnormal facial muscle", - "multicellular organismal process", + "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", + "obsolete heterocycle metabolic process", "obsolete cellular aromatic compound metabolic process", - "organelle organization", "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "face", - "Growth abnormality", + "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", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "biological_process", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "anterior region of body", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "abnormal myeloid cell morphology", - "limb bone", - "musculature of face", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "craniocervical muscle", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal nervous system morphology", + "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", - "abnormal limb bone", - "abnormal skeletal system", - "abnormal phalanx of manus morphology", - "occurrent", - "organ", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "forelimb endochondral element", - "multicellular anatomical structure", - "cellular process", - "Abnormal digit morphology", - "Abnormal nervous system physiology", + "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", - "tissue", - "entire sense organ system", - "continuant", - "manual digitopodium region", - "abnormal anatomical entity morphology in the manus", - "facial nerve", - "Abnormality of the skeletal system", - "decreased size of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "muscle structure", - "material anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "limb endochondral element", - "Abnormal leukocyte count", - "autopod region", - "skeleton", - "manual digit bone", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "decreased length of anatomical entity", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "decreased length of anatomical entity in independent continuant", - "eukaryotic cell", - "skeleton of pectoral complex", - "Pancytopenia", - "bone marrow", - "acropodium region", - "Abnormal cellular immune system morphology", - "myeloid cell", - "immune system", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "blood cell", - "paired limb/fin segment", - "abnormal cranial nerve morphology", - "cellular metabolic process", - "biogenic amine secreting cell", - "abnormal blood cell morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of bone marrow cell morphology", - "abnormal limb bone morphology", - "serotonin secreting cell", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", "process", "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormality of cranial nerve physiology", - "abnormal appendicular skeleton morphology", - "abnormal platelet", - "structure with developmental contribution from neural crest", - "long bone", - "Duplication of bones involving the upper extremities", - "non-connected functional system", - "Abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", - "decreased biological_process", - "Short stature", - "Aplasia/hypoplasia of the extremities", - "aplasia or hypoplasia of manual digit", - "digit 1", - "skeletal system", - "motile cell", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormality of facial musculature", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "organic cyclic compound metabolic process", - "manual digitopodium bone", - "segment of autopod", - "Abnormal cellular phenotype", - "skeleton of manus", - "Short finger", - "craniocervical region musculature", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic cell morphology", - "regulation of biosynthetic process", - "acropodial skeleton", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "oxygen accumulating cell", - "abnormal forelimb morphology", - "material entity", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "craniocervical region", - "abnormal long bone morphology", - "negative regulation of macromolecule metabolic process", + "system process", + "Duplication of hand bones", "abnormal nitrogen compound metabolic process", - "manual digit 1 digitopodial skeleton", - "hemolymphoid system", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "disconnected anatomical group", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "abnormal hematopoietic system", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "abnormally decreased number of platelet", - "phalanx", - "erythrocyte", - "abnormal blood cell", - "manual digit 1 phalanx", - "organ system subdivision", - "abnormal phenotype by ontology source", - "abnormal size of multicellular organism", - "bone element", - "platelet", - "vestibulo-auditory system", - "hematopoietic cell", - "skeletal element", - "Bone marrow hypocellularity", - "Anemia", - "abnormal bone marrow cell", - "Acute leukemia", - "abnormal immune system", - "abnormal anatomical entity", - "abnormally decreased number of cell", - "muscle organ", - "abnormal anatomical entity length", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "quality", - "phenotype by ontology source", - "anucleate cell", - "manus bone", - "Abnormality of the hand", - "Hematological neoplasm", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "hematopoietic system", - "autopod bone", - "multicellular organism", - "mesoderm-derived structure", - "skeleton of limb", - "nucleate cell", - "Abnormal finger morphology", - "anatomical system", - "anatomical structure", - "abnormally decreased number of myeloid cell", - "Abnormality of the musculoskeletal system", - "Abnormal finger phalanx morphology", - "abnormal bone marrow morphology", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "appendage", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal immune system morphology", - "manual digit 1", - "Aplasia/hypoplasia involving bones of the extremities", - "decreased length of digit", - "Short thumb", - "abnormal manual digit 1 morphology", - "digit 1 plus metapodial segment", - "digit", - "endochondral element", - "abnormality of muscle organ physiology", - "multi-limb segment region", - "manual digit phalanx endochondral element", - "abnormal sensory perception", - "abnormal manus", - "secretory cell", - "decreased size of the anatomical entity in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", + "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 number of anatomical entities of type anatomical entity in independent continuant", "abnormal skeletal system morphology", - "protein-containing material entity", - "aplasia or hypoplasia of anatomical entity", - "All", - "anatomical collection", - "paired limb/fin", - "digit plus metapodial segment", - "abnormal face", - "autopodial extension", - "subdivision of organism along appendicular axis", - "paired limb/fin skeleton", - "abnormal ear", - "abnormal autopod region morphology", - "bone of free limb or fin", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "autopodial skeleton", - "skeleton of digitopodium", + "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", - "forelimb", - "Acute myeloid leukemia", - "Short digit", - "lateral structure", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", + "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", - "aplasia or hypoplasia of manual digit 1", - "bone marrow cell", + "abnormal limb morphology", "system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Abnormal appendicular skeleton morphology", - "Facial palsy", - "manual digit", - "paralysed anatomical entity", - "phalanx endochondral element", - "pectoral appendage skeleton", - "abnormal manus morphology", - "Abnormality of the musculature", - "abnormal digit", - "head", - "Abnormality of limb bone", - "cranial nerve", - "abnormal phalanx morphology", - "abnormal arm", - "manus", - "abnormal limb", - "skeletal musculature of head", - "organism subdivision", - "Leukemia", - "bone of pectoral complex", + "aplasia or hypoplasia of manual digit 1", "entity", - "subdivision of skeletal system", - "endochondral bone", - "subdivision of skeleton", - "arm", - "Abnormal ear physiology", - "sensory perception of sound", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "decreased qualitatively sensory perception of sound", - "cell", + "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", - "Duplication of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "pectoral complex", - "digit 1 digitopodial skeleton", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "Abnormal digit morphology", "appendicular skeletal system", - "limb skeleton subdivision", - "upper limb segment", - "appendicular skeleton", - "abnormal manual digit morphology in the independent continuant", - "Abnormal hand morphology", - "abnormal limb morphology", - "Abnormality of thumb phalanx", - "decreased length of manual digit", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "primary metabolic process", - "skeleton of manual digitopodium", - "abnormal head", - "skeleton of manual acropodium", - "axial musculature", - "manual digit digitopodial skeleton", - "pectoral appendage", - "autopod endochondral element", - "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of hand bones", - "peripheral nervous system", - "obsolete cell", - "limb long bone", - "forelimb bone", - "Abnormal long bone morphology", - "phalanx of manus", - "manual digit 1 phalanx endochondral element", - "digitopodium bone", - "forelimb long bone" - ], - "has_phenotype_count": 11, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0014985", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group V", - "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"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCV", - "Fanconi Anemia, complementation Group 5", - "Fanconi Anemia, complementation group V", - "Fanconi Anemia, complementation group type V", - "Fanconi anaemia caused by mutation in MAD2L2", - "Fanconi anaemia complementation group type V", - "Fanconi anemia caused by mutation in MAD2L2", - "Fanconi anemia complementation group type V", - "Fanconi anemia, complementation GROUP V", - "MAD2L2 Fanconi anaemia", - "MAD2L2 Fanconi anemia" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001875", - "HP:0000252", - "HP:0001873", - "HP:0005528", - "HP:0006254", - "HP:0003221", - "HP:0001903", - "HP:0004322" - ], - "has_phenotype_label": [ - "Neutropenia", - "Microcephaly", - "Thrombocytopenia", - "Bone marrow hypocellularity", - "Elevated circulating alpha-fetoprotein concentration", - "Chromosomal breakage induced by crosslinking agents", - "Anemia", - "Short stature" - ], - "has_phenotype_closure": [ - "GO:0040007", - "UPHENO:0081424", - "UPHENO:0000543", - "UPHENO:0049874", - "HP:0001507", - "UPHENO:0012541", - "HP:0000002", - "HP:0001510", - "HP:0001877", - "CL:0000329", - "HP:0012130", - "UPHENO:0088162", - "CL:0000764", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0010558", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0048519", - "GO:0006139", - "GO:1901360", - "GO:0043170", - "GO:0046483", - "UPHENO:0050845", - "HP:0003220", - "GO:0071840", - "UPHENO:0078606", - "UPHENO:0050113", - "GO:0031052", - "CHEBI:24431", - "UPHENO:0051680", - "HP:0006254", - "UBERON:0010323", - "UPHENO:0086045", - "HP:0000234", - "UPHENO:0088338", - "UPHENO:0087089", - "UPHENO:0087123", - "HP:0000252", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0000541", - "HP:0001874", - "GO:0010605", - "GO:0009892", - "UPHENO:0080079", - "NCBITaxon:2759", - "UPHENO:0081566", - "UPHENO:0087907", - "HP:0000152", - "UBERON:0000475", - "HP:0000240", - "UBERON:0001434", - "UPHENO:0076805", - "HP:0025461", - "HP:0002060", - "CL:0000988", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0051936", - "HP:0010987", - "UPHENO:0081435", - "HP:0000924", - "UPHENO:0081423", - "UBERON:0015203", - "UPHENO:0022529", - "UPHENO:0049587", - "UPHENO:0002844", - "UPHENO:0001002", - "BFO:0000004", - "UPHENO:0080352", - "UBERON:0002405", - "UBERON:0000179", - "UBERON:0011676", - "UBERON:0000061", - "UPHENO:0001003", - "GO:0050789", - "UBERON:0013701", - "HP:0001881", - "UPHENO:0085344", - "UPHENO:0063722", - "HP:0001872", - "HP:0032180", - "UPHENO:0075159", - "HP:0100547", - "GO:0071704", - "CL:0000219", - "UBERON:0011137", - "BFO:0000020", - "HP:0011991", - "UPHENO:0076675", - "CHEBI:36962", - "UPHENO:0002948", - "CHEBI:33256", - "UBERON:0000062", - "UPHENO:0086019", - "UPHENO:0011498", - "UPHENO:0077822", - "UBERON:0011216", - "UPHENO:0076703", - "UBERON:0002193", - "CL:0001035", - "UPHENO:0085354", - "PR:000018263", - "UPHENO:0076799", - "UBERON:0000481", - "UPHENO:0020584", - "UPHENO:0087518", - "OBI:0100026", - "CL:0000766", - "UPHENO:0084928", - "UPHENO:0088318", - "HP:0000001", - "HP:0011875", - "HP:0430071", - "UPHENO:0085042", - "HP:0025354", - "UPHENO:0082943", - "UPHENO:0085371", - "CL:0000457", - "HP:0012443", - "HP:0032251", - "UPHENO:0004459", - "CL:0000233", - "UPHENO:0080351", - "UPHENO:0076286", - "UPHENO:0049700", - "HP:0001911", - "UPHENO:0085405", - "UPHENO:0002764", - "GO:0006807", - "UPHENO:0006910", - "CL:0002242", - "GO:0010556", - "PR:000050567", - "UPHENO:0085076", - "BFO:0000003", - "UPHENO:0085356", - "PATO:0000001", - "UBERON:0034923", - "HP:0040012", - "UPHENO:0086005", - "UBERON:0000467", - "UBERON:0004765", - "UPHENO:0085118", - "HP:0002715", - "GO:0090304", - "UPHENO:0015280", - "HP:0045056", - "UPHENO:0004523", - "UPHENO:0086176", - "GO:0065007", - "HP:0010974", - "UPHENO:0085070", - "CHEBI:36963", - "HP:0000118", - "UBERON:0000033", - "UBERON:0000178", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "HP:0001875", - "UPHENO:0077426", - "GO:0034641", - "HP:0011893", - "PR:000064867", - "UPHENO:0085984", - "CHEBI:51143", - "CL:0000255", - "UPHENO:0085189", - "UPHENO:0051612", - "CL:0000738", - "CL:0000763", - "CL:0000458", - "UPHENO:0088170", - "GO:0044238", - "UPHENO:0001001", - "UPHENO:0086589", - "UPHENO:0076791", - "CHEBI:37622", - "HP:0004322", - "UBERON:0003129", - "UPHENO:0086016", - "CL:0000000", - "UPHENO:0088166", - "BFO:0000001", - "UBERON:0004120", - "CL:0000094", - "UPHENO:0046362", - "HP:0007364", - "UBERON:0000468", - "HP:0032309", - "UBERON:0004121", - "UPHENO:0088335", - "GO:0006996", - "HP:0001939", - "NCBITaxon:33208", - "UPHENO:0076692", - "UPHENO:0002536", - "UBERON:0010314", - "UBERON:0001062", - "UPHENO:0088321", - "CL:0000775", - "UBERON:0000075", - "UBERON:0010912", - "CL:0000225", - "UBERON:0010000", - "UBERON:0002390", - "CHEBI:15841", - "GO:0031326", - "UBERON:0002090", - "CHEBI:23367", - "UBERON:0000073", - "HP:0000929", - "UBERON:0000955", - "UPHENO:0001005", - "HP:0040195", - "GO:0016043", - "HP:0002011", - "HP:0012145", - "BFO:0000002", - "HP:0012639", - "UPHENO:0051804", - "UBERON:0002204", - "GO:0044237", - "HP:0002977", - "NCBITaxon:131567", - "NCBITaxon:33154", - "GO:0006725", - "UBERON:0001893", - "UPHENO:0080200", - "UBERON:0001890", - "HP:0033127", - "UPHENO:0076702", - "HP:0001903", - "UBERON:0005944", - "UPHENO:0088176", - "UBERON:0034925", - "BFO:0000040", - "HP:0033405", - "CHEBI:33304", - "UBERON:0013702", - "HP:0001873", - "UBERON:0007811", - "UPHENO:0075195", - "HP:0009121", - "NCBITaxon:6072", - "UPHENO:0002964", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0086173", - "UPHENO:0086049", - "HP:0011017", - "PR:000000001", - "UPHENO:0084987", - "UPHENO:0048707", - "CL:0000232", - "HP:0011873", - "CL:0000151", - "UPHENO:0085302", - "UBERON:0004288", - "UPHENO:0085144", - "HP:0020047", - "CL:0002092", - "CHEBI:33579", - "UPHENO:0051668", - "UPHENO:0087355", - "UPHENO:0049873", - "UBERON:0000153", - "HP:0005561", - "UPHENO:0087339", - "UPHENO:0035025", - "UBERON:0000479", - "HP:0005528", - "UBERON:0002371", - "GO:0006259", - "UBERON:0001474", - "UPHENO:0085195", - "UBERON:0001016", - "CHEBI:36357", - "UPHENO:0077821", - "UBERON:0000463", - "NCBITaxon:1", - "UPHENO:0046378", - "CHEBI:33302", - "UBERON:0000465", - "CHEBI:33582", - "CHEBI:16670", - "HP:0004364", - "HP:0010876", - "UPHENO:0085330", - "GO:0008152", - "UBERON:0002616", - "UPHENO:0048751", - "UPHENO:0046284", - "CHEBI:50860", - "CHEBI:16541", - "UPHENO:0068971", - "CHEBI:33695", - "UBERON:0001017", - "UPHENO:0081547", - "CHEBI:25806", - "CL:0000081", - "CHEBI:35352", - "UPHENO:0085068", - "CHEBI:32988", - "GO:0009987", - "CHEBI:33285", - "UPHENO:0051763", - "UPHENO:0020888", - "UPHENO:0077813", - "GO:0008150", - "CHEBI:33675", - "UPHENO:0076289", - "UPHENO:0077826", - "PR:000003809", - "BFO:0000015", - "CHEBI:33694", - "CHEBI:33839", - "UBERON:0006314", - "CHEBI:36080", - "CHEBI:50047", - "UPHENO:0051801" - ], - "has_phenotype_closure_label": [ - "delayed biological_process", - "Short stature", - "decreased height of the anatomical entity", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "abnormality of anatomical entity height", - "delayed growth", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "protein-DNA complex organization", - "regulation of cellular biosynthetic process", - "biological regulation", - "abnormal organelle organization", - "programmed DNA elimination", - "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", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal cellular metabolic process", - "obsolete cell", - "abnormal metabolic process", - "cellular process", - "abnormal cellular process", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "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", - "Growth abnormality", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "abnormal telencephalon morphology", - "anatomical entity", - "cellular organisms", - "polyatomic entity", - "Abnormality of head or neck", - "craniocervical region", - "haemolymphatic fluid", - "body proper", - "aplasia or hypoplasia of telencephalon", - "regional part of brain", - "abnormal craniocervical region morphology", - "regional part of nervous system", - "forebrain", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "Morphological central nervous system abnormality", - "cell", - "neutrophil", - "anterior region of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal role bodily fluid level", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skeletal morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormal axial skeleton morphology", - "Chromosome breakage", - "abnormal chromatin organization", - "mesoderm-derived structure", - "macromolecule", - "anatomical system", - "main body axis", - "immune system", - "myeloid cell", - "organonitrogen compound", - "root", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "Abnormal neutrophil count", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal bone marrow morphology", - "quality", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "myeloid leukocyte", - "biological_process", - "phenotype by ontology source", - "anucleate cell", - "granulocyte", - "abnormal number of anatomical enitites of type myeloid cell", - "musculoskeletal system", - "Abnormal cell morphology", - "phenotype", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal number of anatomical enitites of type anatomical entity", - "nervous system", - "anatomical collection", - "All", - "abnormal skull morphology", - "increased level of protein", - "abnormally decreased number of leukocyte in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "Abnormal leukocyte count", - "decreased size of the anatomical entity in the independent continuant", - "secretory cell", - "central nervous system", - "abnormal blood alpha-fetoprotein level", - "hemolymphoid system", - "material anatomical entity", - "abnormal platelet morphology", - "Abnormal platelet count", - "growth", - "abnormally decreased number of anatomical entity in the independent continuant", - "serotonin secreting cell", - "nucleate cell", - "postcranial axial skeletal system", - "abnormal phenotype by ontology source", - "hematopoietic cell", - "skeletal system", - "motile cell", - "abnormal growth", - "abnormal leukocyte morphology", - "independent continuant", - "abnormal immune system morphology", - "nitrogen molecular entity", - "chromatin organization", - "negative regulation of macromolecule biosynthetic process", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "amino acid chain", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "organic molecular entity", - "primary amide", - "eukaryotic cell", - "skull", - "abnormal head", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "information biomacromolecule", - "multicellular organism", - "hematopoietic system", - "abnormally decreased number of neutrophil", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal granulocyte morphology", - "anatomical structure", - "regulation of macromolecule biosynthetic process", - "Abnormal circulating metabolite concentration", - "abnormally decreased number of granulocyte", - "structure with developmental contribution from neural crest", - "abnormal neutrophil", - "ectoderm-derived structure", - "abnormally decreased number of hematopoietic cell", - "pnictogen molecular entity", - "Abnormal nervous system morphology", - "abnormally decreased number of cell", - "oxygen molecular entity", - "abnormal cell", - "abnormal programmed DNA elimination by chromosome breakage", - "organochalcogen compound", - "oxygen accumulating cell", - "protein", - "organic amino compound", - "Abnormal erythroid lineage cell morphology", - "leukocyte", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "material entity", - "abnormal alpha-fetoprotein level", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "abnormal DNA metabolic process", - "blood cell", - "chemical entity", - "abnormal myeloid cell morphology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "negative regulation of gene expression", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "multicellular anatomical structure", - "Abnormality of neutrophils", - "Abnormality of skull size", - "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", - "abnormally decreased number of granulocyte in the independent continuant", - "non-connected functional system", - "abnormal size of multicellular organism", - "bone element", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal granulocyte morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal circulating organic compound concentration", - "protein-containing molecular entity", - "skeleton", - "bone marrow", - "abnormal hematopoietic system", - "disconnected anatomical group", - "abnormal immune system", - "abnormal anatomical entity", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormality of the head", - "Abnormal forebrain morphology", - "Abnormality of the immune system", - "Thrombocytopenia", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "erythrocyte", - "abnormal blood cell", - "organ system subdivision", - "abnormal size of skull", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "organism subdivision", - "decreased size of the anatomical entity", - "blood", - "subdivision of skeleton", - "Opisthokonta", - "telencephalon", - "axial skeletal system", - "abnormally decreased number of myeloid cell in the independent continuant", - "cranial skeletal system", - "postcranial axial skeleton", - "abnormal skeletal system", - "Metazoa", - "axial skeleton plus cranial skeleton", - "Abnormality of the nervous system", - "Eumetazoa", - "Eukaryota", - "abnormal craniocervical region", - "organism", - "Decreased head circumference", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal platelet", - "cellular metabolic process", - "biogenic amine secreting cell", - "abnormal blood chemical entity level", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "bone marrow cell", - "abnormal blood protein polypeptide chain level", - "bone cell", - "Abnormality of bone marrow cell morphology", - "polypeptide", - "abnormal hematopoietic system morphology", - "Bone marrow hypocellularity", - "skeletal element", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "Anemia", - "abnormal bone marrow cell", - "Abnormal circulating alpha-fetoprotein concentration", - "Abnormality of multiple cell lineages in the bone marrow", - "carbon group molecular entity", - "abnormal independent continuant chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "peptide", - "continuant", - "protein polypeptide chain", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type hematopoietic cell", - "process", - "abnormal role independent continuant level", - "abnormal independent continuant protein level", - "chalcogen molecular entity", - "entity", - "subdivision of skeletal system", - "Abnormal circulating protein concentration", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal protein level", - "metabolic process", - "bodily fluid", - "organism substance", - "organ", - "occurrent", - "increased level of alpha-fetoprotein", - "abnormal role blood level", - "Abnormality of metabolism/homeostasis", - "organic substance metabolic process", - "Abnormal cellular physiology", - "increased level of chemical entity", - "head", - "amide", - "platelet", - "organooxygen compound", - "abnormal independent continuant alpha-fetoprotein level", - "p-block molecular entity", - "biomacromolecule", - "Abnormal platelet morphology", - "heteroorganic entity", - "alpha-fetoprotein", - "abnormal head morphology", - "abnormal independent continuant protein polypeptide chain level", - "Abnormality of blood and blood-forming tissues", - "molecular entity", - "DNA metabolic process", - "carboxamide", - "abnormal blood nitrogen molecular entity level", - "Abnormal circulating organic amino compound concentration", - "abnormal multicellular organism chemical entity level", - "main group molecular entity", - "negative regulation of cellular biosynthetic process" - ], - "has_phenotype_count": 8, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0011325", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group F", - "full_name": null, - "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", - "xref": ["DOID:0111088", "GARD:15355", "NCIT:C125707", "OMIM:603467"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCF", - "Fanconi Anemia, complementation group type F", - "Fanconi anaemia complementation group type F", - "Fanconi anemia complementation group F", - "Fanconi anemia complementation group type F", - "Fanconi anemia, complementation group F" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0008551", - "HP:0002984", - "HP:0009777", - "HP:0000750", - "HP:0000960", - "HP:0001882", - "HP:0000252", - "HP:0000957", - "HP:0002247", - "HP:0000028", - "HP:0001631", - "HP:0009778", - "HP:0001873", - "HP:0000125", - "HP:0000405", - "HP:0000824", - "HP:0000568", - "HP:0002090", - "HP:0003221", - "HP:0000076", - "HP:0001643", - "HP:0005528", - "HP:0030260", - "HP:0000953", - "HP:0001328", - "HP:0001903", - "HP:0001508", - "HP:0001195", - "HP:0000089", - "HP:0001233", - "HP:0004322", - "HP:0001511", - "HP:0001561", - "HP:0011419" - ], - "has_phenotype_label": [ - "Microtia", - "Hypoplasia of the radius", - "Absent thumb", - "Delayed speech and language development", - "Sacral dimple", - "Leukopenia", - "Microcephaly", - "Cafe-au-lait spot", - "Duodenal atresia", - "Cryptorchidism", - "Atrial septal defect", - "Short thumb", - "Thrombocytopenia", - "Pelvic kidney", - "Conductive hearing impairment", - "Decreased response to growth hormone stimulation test", - "Microphthalmia", - "Pneumonia", - "Chromosomal breakage induced by crosslinking agents", - "Vesicoureteral reflux", - "Patent ductus arteriosus", - "Bone marrow hypocellularity", - "Microphallus", - "Hyperpigmentation of the skin", - "Specific learning disability", - "Anemia", - "Failure to thrive", - "Single umbilical artery", - "Renal hypoplasia", - "2-3 finger syndactyly", - "Short stature", - "Intrauterine growth retardation", - "Polyhydramnios", - "Placental abruption" - ], - "has_phenotype_closure": [ - "UBERON:0003100", - "UPHENO:0005170", - "UBERON:0000173", - "HP:0001561", - "GO:0009790", - "UPHENO:0080393", - "UPHENO:0081436", - "GO:0048856", - "UPHENO:0005642", - "UPHENO:0081424", - "UPHENO:0000543", - "UPHENO:0080351", - "UPHENO:0075159", - "UBERON:5003622", - "UBERON:0006049", - "UPHENO:0078125", - "UPHENO:0078307", - "UPHENO:0078215", - "UPHENO:0076747", - "UPHENO:0078288", - "UPHENO:0075182", - "UPHENO:0081210", - "HP:0001195", - "UBERON:0000478", - "HP:0001159", - "UBERON:0000323", - "HP:0011403", - "UBERON:0002331", - "UPHENO:0075949", - "UBERON:0000922", - "HP:0010881", - "HP:0010948", - "GO:0040007", - "UPHENO:0049874", - "HP:0001507", - "UPHENO:0082794", - "HP:0001508", - "UPHENO:0054299", - "UPHENO:0010795", - "HP:0001877", - "HP:0001328", - "UBERON:0008811", - "HP:0000036", - "HP:0008736", - "UBERON:0000989", - "UPHENO:0050034", - "CL:0001035", - "HP:0012145", - "UPHENO:0087339", - "UPHENO:0087355", - "UBERON:0011695", - "HP:0002597", - "UPHENO:0086797", - "UPHENO:0002678", - "UPHENO:0087018", - "HP:0030962", - "UBERON:0004716", - "UPHENO:0015290", - "UBERON:0004572", - "UBERON:0006876", - "UBERON:0002201", - "HP:0001194", - "UBERON:0003498", - "UBERON:0007798", - "UBERON:0004145", - "UPHENO:0076729", - "UBERON:0000477", - "UBERON:0009856", - "CL:0000232", - "UPHENO:0002806", - "UPHENO:0082878", - "UBERON:0000056", - "HP:0010936", - "HP:0000069", - "UBERON:0036295", - "UBERON:0018707", - "UPHENO:0002437", - "HP:0000076", - "UPHENO:0075852", - "UBERON:0000479", - "HP:0000014", - "GO:0031326", - "GO:0009890", - "GO:0031324", - "GO:0006259", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0009889", - "GO:0031323", - "GO:0090304", - "UPHENO:0050116", - "HP:0003221", - "GO:0005623", - "UPHENO:0049700", - "UPHENO:0000541", - "GO:0010468", - "GO:0019222", - "GO:0006139", - "GO:0046483", - "HP:0000009", - "HP:0001939", - "UPHENO:0050845", - "HP:0003220", - "GO:0044238", - "GO:0071704", - "GO:0008152", - "UPHENO:0050113", - "GO:0031052", - "UPHENO:0080693", - "UPHENO:0002827", - "UPHENO:0082723", - "HP:0010978", - "UPHENO:0002448", - "UBERON:0004119", - "UBERON:0000171", - "UBERON:0002048", - "UPHENO:0019970", - "HP:0002090", - "UPHENO:0083263", - "HP:0012647", - "GO:0006952", - "UBERON:0001005", - "UPHENO:0049588", - "HP:0012649", - "HP:0002086", - "UPHENO:0087433", - "UPHENO:0087472", - "UBERON:0001987", - "UBERON:0002371", - "UPHENO:0075997", - "UBERON:0001456", - "HP:0000568", - "UPHENO:0075219", - "UBERON:0000047", - "UBERON:0010230", - "UBERON:0000019", - "HP:0008056", - "UPHENO:0087924", - "HP:0100887", - "HP:0000478", - "UBERON:0001004", - "HP:0000315", - "UPHENO:0068843", - "UPHENO:0080209", - "GO:0002790", - "CHEBI:24431", - "GO:0065007", - "UPHENO:0076287", - "GO:0006954", - "UPHENO:0080220", - "HP:0031072", - "UPHENO:0082671", - "UBERON:0006555", - "GO:0030252", - "UPHENO:0076293", - "UBERON:0002530", - "GO:0046903", - "GO:0071705", - "HP:0040075", - "UPHENO:0076286", - "UBERON:0002368", - "UPHENO:0087516", - "UPHENO:0050121", - "HP:0000864", - "UPHENO:0004618", - "UPHENO:0080588", - "UBERON:0010133", - "UBERON:0003296", - "GO:0030072", - "GO:0023052", - "GO:0007267", - "HP:0034058", - "UPHENO:0077873", - "UPHENO:0049647", - "HP:0005528", - "HP:0031071", - "UBERON:0002196", - "GO:0050789", - "HP:0025015", - "UBERON:0000970", - "GO:0007154", - "HP:0000818", - "UPHENO:0075772", - "GO:0009892", - "UPHENO:0087940", - "GO:0010556", - "HP:0012503", - "UPHENO:0074685", - "UPHENO:0076812", - "HP:0004323", - "UPHENO:0005652", - "HP:0003117", - "UPHENO:0059874", - "UBERON:0003937", - "HP:0010662", - "UPHENO:0049724", - "UBERON:0004092", - "HP:0032367", - "UPHENO:0075995", - "UPHENO:0077872", - "GO:0050954", - "HP:0011947", - "GO:0007600", - "HP:0000370", - "UPHENO:0076901", - "UPHENO:0003017", - "HP:0000405", - "GO:0055127", - "GO:0009987", - "HP:0000365", - "GO:0007605", - "UPHENO:0050625", - "GO:0006807", - "HP:0031704", - "UPHENO:0005518", - "UPHENO:0052970", - "UBERON:0034921", - "UPHENO:0076779", - "UBERON:0010260", - "GO:0048523", - "HP:0000079", - "UPHENO:0002910", - "GO:0046879", - "HP:0000125", - "HP:0000086", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0000916", - "UPHENO:0083952", - "UBERON:8450002", - "UPHENO:0002803", - "UBERON:0005172", - "HP:0003241", - "HP:0010935", - "HP:0100542", - "UPHENO:0081320", - "UBERON:0001008", - "UPHENO:0051763", - "HP:0025461", - "UPHENO:0085070", - "HP:0020047", - "CL:0000458", - "UBERON:0019222", - "UPHENO:0085189", - "UPHENO:0086049", - "UPHENO:0085118", - "CL:0000233", - "CL:0000763", - "CL:0000457", - "HP:0011603", - "HP:0009381", - "GO:0050877", - "HP:0011927", - "UPHENO:0046411", - "HP:0009778", - "HP:0030680", - "HP:0005120", - "UPHENO:0033559", - "UPHENO:0075655", - "UPHENO:0004536", - "UPHENO:0015329", - "UPHENO:0074722", - "HP:0011994", - "GO:0031049", - "UBERON:0002075", - "UBERON:0005181", - "UBERON:0000915", - "UBERON:0002085", - "CL:0000151", - "UBERON:0003037", - "UBERON:0005178", - "UBERON:0000948", - "UPHENO:0074804", - "UBERON:0002099", - "UPHENO:0076810", - "UBERON:0001009", - "UBERON:0003103", - "HP:0006101", - "HP:0012638", - "HP:0000708", - "CL:0000329", - "UBERON:0001474", - "UPHENO:0049622", - "GO:0010558", - "NBO:0000313", - "HP:0025634", - "HP:0000824", - "UBERON:0001756", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0011425", - "HP:0040195", - "UPHENO:0019888", - "UPHENO:0002844", - "UBERON:0019231", - "UPHENO:0085144", - "UPHENO:0087006", - "GO:0043170", - "HP:0011961", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "NCBITaxon:2759", - "UPHENO:0021474", - "UBERON:5001463", - "UBERON:5006049", - "UPHENO:0002905", - "UPHENO:0076723", - "UPHENO:0054261", - "NCBITaxon:131567", - "UBERON:0002544", - "UPHENO:0049586", - "UPHENO:0053208", - "UBERON:0019221", - "UBERON:0019232", - "UPHENO:0002240", - "UPHENO:0053588", - "UBERON:0004765", - "UBERON:0000467", - "UPHENO:0060026", - "UPHENO:0002378", - "UPHENO:0087548", - "GO:1901360", - "UBERON:0004151", - "UBERON:0000061", - "UPHENO:0008523", - "UPHENO:0087518", - "OBI:0100026", - "UPHENO:0006910", - "UPHENO:0086908", - "UBERON:0005451", - "HP:0040068", - "UPHENO:0002708", - "UBERON:0003513", - "UBERON:0012141", - "HP:0012759", - "UBERON:0002097", - "UBERON:0003135", - "HP:0000001", - "HP:0011297", - "UPHENO:0087186", - "UPHENO:0081435", - "UPHENO:0076724", - "UPHENO:0081451", - "HP:0000077", - "UBERON:0002199", - "UBERON:0002193", - "UPHENO:0088162", - "UBERON:0004710", - "UPHENO:0084448", - "HP:0006501", - "UPHENO:0087907", - "UBERON:0013768", - "UPHENO:0046505", - "UPHENO:0069254", - "HP:0001233", - "UBERON:0000949", - "UBERON:0003466", - "UPHENO:0087309", - "UPHENO:0051804", - "HP:0002167", - "UBERON:0008785", - "UPHENO:0085068", - "UBERON:0004708", - "UBERON:0034925", - "GO:0032504", - "HP:0000750", - "UPHENO:0049701", - "HP:0100547", - "HP:0040070", - "UBERON:0010363", - "HP:0002977", - "UBERON:0010708", - "UPHENO:0076765", - "HP:0031073", - "UBERON:0013765", - "UBERON:0002204", - "UBERON:0008001", - "HP:0000271", - "UPHENO:0020041", - "UPHENO:0086863", - "HP:0009601", - "UBERON:0003607", - "UBERON:0001423", - "UBERON:0004456", - "HP:0009826", - "UBERON:0002105", - "UBERON:0002529", - "UBERON:0002513", - "UBERON:0016887", - "UBERON:0011138", - "GO:0022414", - "UPHENO:0076727", - "HP:0011875", - "UPHENO:0086045", - "HP:0002088", - "UPHENO:0084763", - "HP:0009824", - "HP:0001882", - "GO:0003008", - "UBERON:0010538", - "UPHENO:0088186", - "UPHENO:0002901", - "UPHENO:0080352", - "UBERON:0000075", - "UBERON:0002104", - "HP:0006503", - "HP:0008678", - "GO:0006996", - "UBERON:0005179", - "UPHENO:0078278", - "UBERON:0001255", - "UPHENO:0069196", - "GO:0050896", - "UBERON:0011582", - "UBERON:0015061", - "UBERON:0003129", - "UPHENO:0010763", - "UPHENO:0002833", - "UPHENO:0078179", - "GO:0006810", - "UPHENO:0080585", - "UBERON:0012139", - "UPHENO:0012541", - "UPHENO:0020748", - "UPHENO:0086700", - "UPHENO:0086699", - "HP:0011314", - "UBERON:0002091", - "UPHENO:0020584", - "HP:0034434", - "UPHENO:0059829", - "BFO:0000040", - "UBERON:0001442", - "UPHENO:0074584", - "UPHENO:0084766", - "UBERON:0015212", - "UPHENO:0002880", - "UBERON:0012475", - "UBERON:0010000", - "UBERON:0002390", - "UPHENO:0085344", - "UPHENO:0020950", - "UPHENO:0001003", - "UBERON:0006717", - "HP:0004325", - "UPHENO:0031839", - "HP:0002463", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "HP:0000234", - "UPHENO:0046284", - "UPHENO:0085873", - "UPHENO:0081091", - "HP:0002242", - "UPHENO:0079872", - "GO:0019953", - "UBERON:0005985", - "UPHENO:0075195", - "GO:0032940", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0083648", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0084987", - "UBERON:0011584", - "UBERON:0005423", - "UBERON:0000026", - "HP:0033353", - "UBERON:0002355", - "HP:0000364", - "UBERON:0000179", - "UBERON:0002101", - "UBERON:0002081", - "HP:0045060", - "HP:0031703", - "UPHENO:0049873", - "HP:0008771", - "UBERON:0005440", - "UPHENO:0077887", - "UBERON:0002386", - "UBERON:0003509", - "UBERON:0004573", - "UBERON:0015021", - "UBERON:0005881", - "UBERON:0001062", - "UPHENO:0081095", - "GO:0009914", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0088321", - "UBERON:0002049", - "UBERON:0001016", - "GO:0065008", - "UPHENO:0081204", - "HP:0001197", - "HP:0011446", - "UPHENO:0042775", - "CL:0000408", - "GO:0007283", - "UPHENO:0026506", - "PATO:0000001", - "UPHENO:0080110", - "UBERON:0006048", - "UBERON:5002544", - "UPHENO:0087510", - "UPHENO:0086173", - "UBERON:0015410", - "UBERON:0001690", - "CL:0002092", - "UPHENO:0081466", - "UPHENO:0002903", - "UPHENO:0053644", - "UPHENO:0086633", - "GO:0023061", - "UPHENO:0002371", - "HP:0000598", - "UPHENO:0041226", - "HP:0001510", - "UPHENO:0086023", - "UBERON:0010741", - "UBERON:0001894", - "UPHENO:0046540", - "HP:0001560", - "GO:0016043", - "UPHENO:0075902", - "UPHENO:0015280", - "UBERON:0001460", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0002108", - "HP:0000356", - "BFO:0000004", - "UPHENO:0077890", - "UPHENO:0046624", - "UPHENO:0011498", - "UBERON:0004381", - "UBERON:0013702", - "UPHENO:0080187", - "HP:0011844", - "UBERON:0000062", - "GO:0031327", - "HP:0002984", - "HP:0002817", - "UPHENO:0001001", - "UPHENO:0087547", - "UBERON:0003834", - "HP:0000118", - "UPHENO:0082129", - "HP:0001511", - "UPHENO:0074572", - "UBERON:0002417", - "HP:0004100", - "BFO:0000003", - "UBERON:5002389", - "PR:000050567", - "UBERON:0011249", - "HP:0000152", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0000033", - "UPHENO:0001002", - "UBERON:0001137", - "UBERON:0000178", - "HP:0009821", - "UBERON:0015204", - "UPHENO:0049927", - "UPHENO:0080126", - "HP:0000119", - "UPHENO:0076799", - "GO:0071702", - "HP:0012210", - "UBERON:0008962", - "UBERON:0001463", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "GO:0032501", - "UBERON:0013701", - "UPHENO:0076730", - "UPHENO:0081119", - "UPHENO:0050108", - "UPHENO:0086735", - "HP:0011452", - "UBERON:0034923", - "UPHENO:0051668", - "UBERON:0004054", - "BFO:0000002", - "HP:0012639", - "UPHENO:0075961", - "HP:0000089", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0050008", - "HP:0006496", - "HP:0002795", - "UBERON:0001434", - "HP:0012252", - "UBERON:0007811", - "UBERON:0001270", - "UBERON:0000020", - "UBERON:0002470", - "GO:0140352", - "UPHENO:0081790", - "HP:0000377", - "UPHENO:0076803", - "UBERON:0000465", - "UBERON:0001130", - "UPHENO:0075933", - "UBERON:0000153", - "UPHENO:0086589", - "UPHENO:0076791", - "GO:0043933", - "UPHENO:0002896", - "UPHENO:0009382", - "UPHENO:0080300", - "UBERON:0000073", - "UBERON:0010703", - "UBERON:0000955", - "GO:0034641", - "HP:0000929", - "UBERON:0007272", - "UBERON:8600018", - "UPHENO:0087802", - "UPHENO:0012274", - "HP:0001872", - "UPHENO:0084761", - "UBERON:5006048", - "UBERON:0003133", - "UPHENO:0086956", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0001167", - "UPHENO:0080111", - "HP:0040064", - "UBERON:0002428", - "HP:0001903", - "UPHENO:0003116", - "UPHENO:0004459", - "UPHENO:0054957", - "UPHENO:0088170", - "UBERON:0010740", - "UPHENO:0081792", - "HP:0012130", - "UPHENO:0033603", - "CL:0000300", - "UPHENO:0005597", - "GO:0007610", - "HP:0005922", - "UPHENO:0015303", - "UPHENO:0052178", - "HP:0008551", - "UPHENO:0086771", - "UPHENO:0026183", - "UPHENO:0084771", - "UPHENO:0081313", - "UPHENO:0069110", - "UPHENO:0002263", - "UPHENO:0019890", - "GO:0006725", - "UPHENO:0087501", - "HP:0005927", - "UBERON:0003101", - "UBERON:0004120", - "UBERON:0001440", - "HP:0000027", - "UPHENO:0069294", - "HP:0011121", - "HP:0034057", - "UPHENO:0078606", - "HP:0006265", - "GO:0042886", - "HP:0040072", - "UBERON:0010912", - "UPHENO:0085302", - "UPHENO:0084928", - "UPHENO:0026028", - "UPHENO:0063565", - "HP:0005773", - "HP:0011873", - "UBERON:0004375", - "HP:0009115", - "UPHENO:0004523", - "UBERON:0010758", - "UBERON:0001555", - "UPHENO:0087846", - "GO:0008150", - "UPHENO:0020888", - "UPHENO:0002433", - "HP:0011747", - "UPHENO:0049587", - "BFO:0000015", - "UPHENO:0049748", - "HP:0000707", - "UPHENO:0005431", - "UPHENO:0086172", - "UPHENO:0076739", - "UPHENO:0080079", - "HP:0007364", - "BFO:0000001", - "UPHENO:0002635", - "UPHENO:0002751", - "UBERON:0002495", - "UBERON:0004535", - "HP:0005107", - "HP:0010767", - "UPHENO:0003020", - "UBERON:0005944", - "UBERON:0000991", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002416", - "CL:0000764", - "UPHENO:0087089", - "UPHENO:0083951", - "UPHENO:0087374", - "CL:0000039", - "UBERON:0002102", - "UPHENO:0003811", - "CL:0000225", - "HP:0000925", - "GO:0006950", - "UPHENO:0015324", - "HP:0001643", - "UBERON:0004571", - "UBERON:0000065", - "HP:0000830", - "UBERON:0012140", - "UBERON:0005473", - "UBERON:0004111", - "UPHENO:0080377", - "UBERON:0011137", - "UPHENO:0033572", - "HP:0009815", - "HP:0002246", - "UBERON:0006077", - "UPHENO:0078159", - "UPHENO:0049584", - "HP:0025033", - "GO:0048232", - "UBERON:0003828", - "CL:0000988", - "HP:0012372", - "HP:0002060", - "GO:0060255", - "UBERON:0006075", - "UBERON:0001981", - "UPHENO:0082875", - "HP:0011355", - "GO:0050794", - "UPHENO:0085875", - "HP:0010781", - "UPHENO:0076695", - "GO:0044237", - "UPHENO:0088166", - "UPHENO:0002813", - "GO:0007275", - "HP:0000924", - "UBERON:0004121", - "UBERON:0004247", - "UPHENO:0080099", - "CL:0000219", - "UBERON:0005173", - "UPHENO:0086857", - "UBERON:0003463", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0022529", - "HP:0000032", - "UBERON:0001556", - "HP:0001574", - "UBERON:0005174", - "UBERON:0011216", - "HP:0011024", - "UBERON:0004175", - "UPHENO:0087334", - "UBERON:0005177", - "HP:0009121", - "HP:0011100", - "UPHENO:0049990", - "UPHENO:0020659", - "RO:0002577", - "HP:0000951", - "UBERON:0001637", - "UPHENO:0077426", - "UPHENO:0085984", - "HP:0002715", - "HP:0030260", - "GO:0051234", - "UPHENO:0085371", - "CL:0000000", - "UPHENO:0050101", - "UPHENO:0088338", - "UPHENO:0078743", - "UPHENO:0076703", - "UPHENO:0085330", - "HP:0010460", - "UPHENO:0035025", - "UPHENO:0079876", - "UBERON:0001007", - "UPHENO:0078327", - "UPHENO:0087123", - "UBERON:0018674", - "UPHENO:0088319", - "UPHENO:0075872", - "GO:0010605", - "UPHENO:0035147", - "UBERON:0000474", - "HP:0025354", - "CL:0000255", - "UPHENO:0005986", - "CL:0002242", - "UPHENO:0087643", - "UPHENO:0002948", - "UBERON:0002100", - "UPHENO:0076675", - "UPHENO:0063722", - "UPHENO:0087376", - "HP:0001881", - "UPHENO:0078081", - "GO:0015833", - "UPHENO:0076735", - "UBERON:0006314", - "HP:0005561", - "HP:0011893", - "HP:0010987", - "UPHENO:0002832", - "GO:0032502", - "HP:0032251", - "UPHENO:0085195", - "UPHENO:0063629", - "UPHENO:0086635", - "HP:0000812", - "HP:0000240", - "UPHENO:0081628", - "UPHENO:0086855", - "UBERON:0001691", - "UPHENO:0075220", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "NCBITaxon:1", - "HP:0000252", - "UBERON:0000055", - "UPHENO:0083689", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0069391", - "UBERON:0001017", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0001032", - "HP:0012443", - "UBERON:0002616", - "HP:0000050", - "UPHENO:0054970", - "HP:0012758", - "HP:0002011", - "UPHENO:0046707", - "UPHENO:0074575", - "UBERON:0000170", - "UPHENO:0076805", - "UPHENO:0080200", - "UBERON:0001890", - "UPHENO:0002476", - "NCBITaxon:33154", - "UBERON:0001893", - "UBERON:0000475", - "UPHENO:0076702", - "UPHENO:0076776", - "NCBITaxon:6072", - "UBERON:0000007", - "UPHENO:0080221", - "HP:0001034", - "UPHENO:0085410", - "HP:0001631", - "UPHENO:0080662", - "HP:0009777", - "UBERON:0004921", - "UPHENO:0082682", - "HP:0033127", - "HP:0007400", - "UBERON:0000481", - "HP:0000957", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0076684", - "UPHENO:0074589", - "UBERON:0003460", - "HP:0012733", - "GO:0010817", - "GO:0043473", - "UBERON:0004537", - "CL:0000081", - "UBERON:0000064", - "UBERON:0013522", - "HP:0002664", - "UPHENO:0063569", - "HP:0002589", - "UPHENO:0076783", - "HP:0011793", - "UPHENO:0003058", - "UBERON:0004088", - "UBERON:0000025", - "UBERON:0002090", - "HP:0002247", - "UBERON:0000072", - "UPHENO:0080362", - "GO:0006325", - "UPHENO:0063639", - "UPHENO:0053580", - "UPHENO:0081594", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "UBERON:0002114", - "UPHENO:0082761", - "CL:0000738", - "UBERON:0000160", - "UPHENO:0087427", - "UPHENO:0002808", - "HP:0025031", - "HP:0010461", - "UPHENO:0086621", - "HP:0001671", - "HP:0003026", - "CL:0000019", - "UPHENO:0081423", - "UBERON:0005409", - "UPHENO:0052231", - "HP:0000028", - "UPHENO:0069523", - "UPHENO:0002725", - "HP:0012718", - "UPHENO:0088337", - "HP:0002244", - "UBERON:0001558", - "UPHENO:0086201", - "UPHENO:0076289", - "UBERON:0010712", - "HP:0000080", - "GO:0048519", - "UBERON:0006058", - "HP:0008772", - "UPHENO:0085874", - "HP:0001871", - "UBERON:0000079", - "UPHENO:0078267", - "HP:0001000", - "UPHENO:0080382", - "GO:0048609", - "HP:0011419", - "GO:0051179", - "GO:0003006", - "UBERON:0003622", - "UBERON:0002471", - "UPHENO:0081755", - "CL:0000586", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "UPHENO:0081547", - "HP:0012243", - "UPHENO:0085194", - "HP:0001172", - "HP:0002973", - "UBERON:0011676", - "HP:0000025", - "UPHENO:0049985", - "HP:0000960", - "UBERON:0000463", - "UPHENO:0078729", - "UBERON:0015228", - "UPHENO:0002830", - "UBERON:0004288", - "CL:0000015", - "UPHENO:0002764", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0004176", - "HP:0008669", - "UBERON:0002405", - "UBERON:0003606", - "UPHENO:0021561", - "UPHENO:0086198", - "UPHENO:0077889", - "UPHENO:0079826", - "UPHENO:0002595", - "UBERON:0004122", - "UPHENO:0049940", - "CL:0000413", - "UPHENO:0002332", - "HP:0012874", - "UPHENO:0076718", - "UPHENO:0005651", - "UPHENO:0052778", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0003690", - "HP:0000078", - "HP:0100767", - "UBERON:0001968", - "UBERON:0000473", - "UPHENO:0086005", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "HP:0001626" - ], - "has_phenotype_closure_label": [ - "female organism", - "abnormal female reproductive system", - "Intrauterine growth retardation", - "multicellular organism development", - "delayed biological_process", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "abnormally fused anatomical entity and anatomical entity", - "abnormally fused digit and digit", - "Abnormal 2nd finger morphology", - "digit 2", - "abnormally fused digit and anatomical entity", - "digit 2 plus metapodial segment", - "abnormally fused manual digit 2 and manual digit 3", - "abnormally fused anatomical entity and digit", - "Syndactyly", - "manual digit 2", - "abnormal manual digit 2 morphology", - "Renal hypoplasia", - "decreased size of the kidney", - "decreased embryo development", - "abnormal umbilical blood vessel morphology", - "Fetal ultrasound soft marker", - "entire extraembryonic component", - "Abnormality of the umbilical cord", - "Single umbilical artery", - "developing anatomical structure", - "abnormal late embryo", - "abnormal growth", - "Decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "abnormality of anatomical entity mass", - "erythroid lineage cell", - "erythrocyte", - "abnormal erythrocyte morphology", - "oxygen accumulating cell", - "abnormal penis morphology", - "Hypoplasia of penis", - "External genital hypoplasia", - "Abnormal penis morphology", - "decreased size of the penis", - "anatomical structure development", - "Hypoplastic male external genitalia", - "tissue", - "Bone marrow hypocellularity", - "abnormal hematopoietic system morphology", - "Abnormality of bone marrow cell morphology", - "bone cell", - "conceptus", - "Abnormal blood vessel morphology", - "blood vasculature", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "heart vasculature", - "thoracic segment blood vessel", - "blood vessel", - "outflow tract", - "Congenital malformation of the great arteries", - "trunk blood vessel", - "abnormal artery morphology in the independent continuant", - "coronary vessel", - "abnormal incomplete closing of the ductus arteriosus", - "vascular system", - "abnormal systemic artery morphology", - "systemic artery", - "Abnormality of the lower urinary tract", - "Functional abnormality of the bladder", - "decreased size of the external male genitalia", - "Abnormal ureter physiology", - "abnormal embryo development", - "Microphallus", - "renal pelvis/ureter", - "bladder organ", - "Abnormality of the amniotic fluid", - "urinary bladder", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "abnormal lower urinary tract", - "ureter", - "sac", - "Abnormality of the ureter", - "abnormal penis", - "abnormality of ureter physiology", - "abnormal primary metabolic process", - "regulation of cellular biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "protein-containing complex organization", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Abnormality of chromosome stability", - "Abnormal cellular physiology", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal DNA metabolic process", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Failure to thrive", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "Placental abruption", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "intromittent organ", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "cellular component organization or biogenesis", - "programmed DNA elimination by chromosome breakage", - "abnormal vascular system morphology", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "abnormal chromatin organization", - "Pneumonia", - "increased inflammatory response in independent continuant", - "Abnormality of immune system physiology", - "abnormal blood vessel morphology", - "lung", - "decreased growth", - "increased qualitatively inflammatory response", - "respiratory airway", - "Abnormal respiratory system physiology", - "abnormal lung morphology", - "abnormal response to stress", - "Abnormality of prenatal development or birth", - "increased inflammatory response", - "proximo-distal subdivision of respiratory tract", - "abnormal respiratory system", - "Increased inflammatory response", - "Abnormality of the respiratory system", - "abnormality of respiratory system physiology", - "abnormal bone marrow morphology", - "lower respiratory tract", - "response to stress", - "abnormal organelle organization", - "abnormal respiratory system morphology", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "Abnormal eye morphology", - "abnormal orbital region", - "Abnormality of the face", - "simple eye", - "Abnormality of the eye", - "abnormal face", - "camera-type eye", - "orbital region", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "visual system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of the vasculature", - "abnormal growth hormone secretion", - "abnormal biological_process in nervous system", - "abnormal multicellular organism chemical entity level", - "peptide secretion", - "external male genitalia hypoplasia", - "peptide transport", - "chemical entity", - "Abnormal endocrine physiology", - "secretion", - "increased qualitatively response to stimulus", - "signal release", - "regulation of biological process", - "cell communication", - "vasculature of organ", - "Abnormal circulating hormone concentration", - "abnormal secretion in independent continuant", - "Abnormal growth hormone level", - "abnormal inflammatory response", - "neuroendocrine gland", - "lower urinary tract", - "Hypopituitarism", - "decreased secretion in independent continuant", - "regulation of biological quality", - "Abnormal pituitary gland morphology", - "glandular system", - "abnormal independent continuant chemical entity level", - "abnormal pituitary gland morphology", - "gland", - "female reproductive system", - "gland of diencephalon", - "pituitary gland", - "adenohypophysis", - "abnormal blood chemical entity level", - "Abnormality of the diencephalon", - "abnormal role independent continuant level", - "abnormal diencephalon morphology", - "localization", - "cellular process", - "abnormal endocrine gland morphology", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal diencephalon", - "abnormal urinary bladder", - "regulation of hormone levels", - "transport", - "Decreased response to growth hormone stimulation test", - "decreased biological_process in brain", - "abnormal secretion by cell", - "abnormal hypothalamus-pituitary axis", - "neuroendocrine system", - "peptide hormone secretion", - "Anterior hypopituitarism", - "abnormal hormone blood level", - "abnormal localization", - "Abnormality of metabolism/homeostasis", - "abnormal chemical entity level", - "abnormal transport", - "abnormal middle ear", - "decreased qualitatively sensory perception of mechanical stimulus", - "decreased sensory perception of sound", - "abnormality of middle ear physiology", - "nucleic acid metabolic process", - "abnormal sensory perception of sound", - "Hearing abnormality", - "obsolete nitrogen compound metabolic process", - "Abnormal ear physiology", - "abnormality of urinary bladder physiology", - "Abnormality of the middle ear", - "decreased vibrational conductance of sound to the inner ear", - "multi organ part structure", - "abnormal nitrogen compound metabolic process", - "nervous system process", - "sensory perception of sound", - "system process", - "vibrational conductance of sound to the inner ear", - "Pelvic kidney", - "excretory tube", - "abnormal kidney morphology", - "Ectopic kidney", - "abnormal renal system", - "abdomen element", - "Abnormality of the kidney", - "Abnormal localization of kidney", - "Abnormality of the upper urinary tract", - "renal system", - "excretory system", - "organic substance transport", - "Abnormal platelet count", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "abnormal placenta", - "Abnormal cell morphology", - "abnormal hematopoietic cell morphology", - "abnormally decreased number of myeloid cell", - "great vessel of heart", - "abnormal myeloid cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "Abnormal myeloid cell morphology", - "embryo", - "abnormal blood cell", - "abnormal cellular process", - "secretory cell", - "decreased length of manual digit", - "Short digit", - "Short finger", - "Short thumb", - "Abnormality of cardiovascular system morphology", - "vasculature of trunk", - "heart plus pericardium", - "interatrial septum", - "abnormal biological_process in central nervous system", - "primary circulatory organ", - "thoracic cavity element", - "eye", - "Functional abnormality of the middle ear", - "compound organ", - "cardiovascular system", - "abnormal cardiac atrium morphology", - "Abnormality of speech or vocalization", - "skeleton of pectoral complex", - "axial skeleton plus cranial skeleton", - "Growth delay", - "kidney", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormality of anatomical entity physiology", - "abnormally fused manual digit and manual digit", - "anatomical entity atresia", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "abnormality of nervous system physiology", - "response to stimulus", - "sperm", - "Delayed speech and language development", - "Abnormality of limbs", - "Atypical behavior", - "Abnormal atrial septum morphology", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "biological_process", - "secretion by cell", - "abnormal nervous system", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "digit 1 or 5", - "abnormal interatrial septum morphology", - "abnormal digit", - "thoracic segment of trunk", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "abnormal blood cell morphology", - "pectoral appendage skeleton", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abdomen", - "manual digit 1 plus metapodial segment", - "trunk bone", - "umbilical cord", - "autopodial skeleton", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "haemolymphatic fluid", - "digit plus metapodial segment", - "abnormal digit morphology", - "abnormal manus", - "digit", - "Hyperpigmentation of the skin", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal ureter", - "multicellular organismal process", - "Aplasia/hypoplasia involving forearm bones", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "nitrogen compound transport", - "aplastic anatomical entity", - "decreased length of manual digit 1", - "anterior region of body", - "Absent thumb", - "abnormal ear", - "increased qualitatively inflammatory response in independent continuant", - "abnormal autopod region morphology", - "abnormal bone marrow cell morphology", - "bone of free limb or fin", - "Sacrococcygeal pilonidal abnormality", - "decreased size of the external ear", - "Language impairment", - "agenesis of anatomical entity", - "abnormal role blood level", - "Conductive hearing impairment", - "abnormal anatomical entity morphology in the manus", - "acropodium region", - "skeleton of manus", - "abnormal platelet morphology", - "digit 1", - "Vesicoureteral reflux", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "Abnormal cardiac septum morphology", - "subdivision of skeleton", - "nervous system", - "forelimb zeugopod bone", - "Abnormality of brain morphology", - "Decreased body weight", - "regulation of metabolic process", - "manual digit 1", - "autopodial extension", - "pair of lungs", - "zeugopod", - "skeletal element", - "subdivision of head", - "appendage girdle complex", - "digit 1 plus metapodial segment", - "abnormal skeletal system", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "appendicular skeleton", - "upper limb segment", - "anucleate cell", - "cardiac septum", - "pectoral complex", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "abnormal forelimb zeugopod bone", - "limb", - "Finger syndactyly", - "cell", - "Anemia", - "Abnormality of the hand", - "radius bone", - "arm", - "subdivision of skeletal system", - "entity", - "Abnormal vascular morphology", - "abnormal arm", - "head", - "Forearm undergrowth", - "Abnormal appendicular skeleton morphology", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "behavior", - "growth", - "Aplasia/hypoplasia involving bones of the upper limbs", - "organ system subdivision", - "aplasia or hypoplasia of manual digit 1", - "system", - "appendicular skeletal system", - "anatomical system", - "arterial system", - "abnormal sensory perception", - "aplasia or hypoplasia of ear", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Respiratory tract infection", - "absent digit", - "inflammatory response", - "phenotype", - "skeletal system", - "Abnormal endocrine morphology", - "motile cell", - "abnormal cellular metabolic process", - "musculoskeletal system", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "platelet", - "absent sperm in the independent continuant", - "pelvic region element", - "absent anatomical entity in the multicellular organism", - "regulation of macromolecule biosynthetic process", + "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", - "endoderm-derived structure", - "trunk region element", - "Aplasia/Hypoplasia of the external ear", - "embryo development", - "diencephalon", - "abnormal radius bone morphology", - "Hypoplasia of the radius", - "paired limb/fin", + "thoracic cavity element", "Aplasia/hypoplasia involving the skeleton", - "abnormal umbilical cord", - "structure with developmental contribution from neural crest", - "negative regulation of biosynthetic process", - "material entity", - "long bone", - "ectoderm-derived structure", - "multi-limb segment region", - "abnormal endocrine system morphology", - "sensory system", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "gonad", - "external ear hypoplasia", - "vessel", - "lateral structure", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal programmed DNA elimination by chromosome breakage", - "increased biological_process in lung", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "abnormal head morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "abnormal limb bone morphology", - "abnormally fused manual digit and anatomical entity", - "Abnormality of head or neck", - "abnormal kidney", - "abnormal reproductive system", - "craniocervical region", - "biogenic amine secreting cell", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "blood", - "abnormal pigmentation in independent continuant", - "multicellular organismal reproductive process", - "abnormal head", - "systemic arterial system", - "entire sense organ system", - "continuant", - "hormone secretion", - "endocrine system", - "forelimb skeleton", - "decreased qualitatively reproductive process", - "genitourinary system", - "Microtia", - "phenotype by ontology source", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "bone marrow", - "Abnormal cardiac atrium morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal ear morphology", - "aplasia or hypoplasia of skeleton", - "abnormality of endocrine system physiology", - "non-connected functional system", - "embryonic cardiovascular system", - "organism subdivision", + "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", - "decreased qualitatively biological_process in independent continuant", - "Neoplasm", - "Abnormal intestine morphology", - "protein-DNA complex organization", - "vestibulo-auditory system", - "hematopoietic cell", - "behavior process", - "abnormal upper urinary tract", - "Limb undergrowth", - "decreased secretion in pituitary gland", - "Aplasia/Hypoplasia of the thumb", - "Abnormal communication", + "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", - "All", - "anatomical collection", - "increased qualitatively biological_process", - "manus", - "negative regulation of cellular process", - "abnormal limb", - "abnormally fused manual digit 2 and anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "abnormality of anatomical entity height", - "subdivision of organism along main body axis", - "small intestine", - "main body axis", - "arterial blood vessel", - "decreased spermatogenesis", - "decreased size of the anatomical entity in the independent continuant", - "anatomical conduit", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "bone element", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "abnormal ear morphology", - "umbilical blood vessel", - "abnormal heart morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "thoracic segment organ", - "Neurodevelopmental abnormality", - "regulation of gene expression", - "respiratory system", - "pectoral appendage", - "subdivision of organism along appendicular axis", - "establishment of localization", - "cell-cell signaling", - "Abnormal male reproductive system physiology", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "abnormal reproductive system morphology", - "decreased qualitatively growth", - "Abnormal inflammatory response", - "abnormally decreased number of hematopoietic cell", - "abnormal phenotype by ontology source", - "abnormal development of anatomical entity", - "Abnormal thumb morphology", - "subdivision of trunk", - "body proper", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "material anatomical entity", - "skeleton of limb", - "Abnormality of skin pigmentation", - "Patent ductus arteriosus", - "Abnormal pinna morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal bone of pectoral complex morphology", - "bone of pectoral complex", - "decreased length of anatomical entity", - "limb skeleton subdivision", - "skull", - "absent anatomical entity in the limb", - "Abnormal long bone morphology", - "absent sperm in the semen", - "increased qualitatively biological_process in independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "Microphthalmia", - "abnormal external ear morphology", - "postcranial axial skeleton", - "decreased qualitatively developmental process", - "forelimb zeugopod bone hypoplasia", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod", - "abnormal testis morphology", - "abnormal size of anatomical entity", - "Abnormal renal morphology", - "abnormal external genitalia", - "respiration organ", - "Sacral dimple", - "segment of autopod", - "Abnormal fetal morphology", - "abnormal intestine morphology", - "independent continuant", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "decreased length of anatomical entity in independent continuant", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "Abnormality of the hypothalamus-pituitary axis", + "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", - "limb bone", - "forelimb bone", - "anatomical entity hypoplasia", - "appendage", - "root", - "internal genitalia", - "abnormal behavior", - "radius endochondral element", - "Aplasia/Hypoplasia of the ear", - "Azoospermia", - "mesoderm-derived structure", - "skeleton", - "male gamete generation", - "abnormal neuroendocrine gland morphology", - "endochondral element", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "Polyhydramnios", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal behavior process", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal gamete generation", - "leukocyte", - "abnormally decreased number of anatomical entity in the blood", - "ear", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "paired limb/fin skeleton", - "Short forearm", - "subdivision of digestive tract", - "penis hypoplasia", + "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", - "abnormal amniotic fluid", + "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", - "eyeball of camera-type eye", - "decreased length of forelimb zeugopod bone", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "bone of appendage girdle complex", - "serotonin secreting cell", - "abnormal anatomical entity morphology in the appendage girdle complex", - "pigmentation", - "Abnormality of limb bone morphology", - "Abnormality of the vertebral column", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "trunk", - "Macule", - "reproductive system", - "sacral region", - "Abnormal testis morphology", - "abnormal integument", - "abnormal role bodily fluid level", - "dorsum", - "testis", - "Skin dimple", - "abnormal fused sacrum morphology", - "2-3 finger syndactyly", - "biological regulation", - "abdominal segment of trunk", - "bone of dorsum", - "abdominal segment element", - "abnormal external male genitalia morphology", - "abnormal vertebral column morphology", - "ductus arteriosus", - "abnormal opening of the anatomical entity", - "dorsal region element", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "spermatogenesis", - "macromolecule metabolic process", - "pelvic region of trunk", - "Neurodevelopmental delay", - "abnormal skin of body", - "Abnormality of the integument", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "face", - "aplasia or hypoplasia of manual digit", - "cardiac chamber", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "manual digit 2, 3 or 4", - "Fetal anomaly", - "Abnormality of skin morphology", - "integumental system", - "abnormal gland morphology", - "middle ear", - "integument", - "abnormal craniocervical region", - "sacral region of vertebral column", - "organism", - "irregular bone", - "fused sacrum", - "increased biological_process in independent continuant", - "abnormal skin of body morphology", - "bony pelvis", - "Growth abnormality", - "abnormal adenohypophysis", - "axial skeletal system", - "reproductive gland", - "abnormal skull morphology", - "Short long bone", - "reproductive organ", - "decreased developmental process", - "absent manual digit", - "subdivision of vertebral column", - "Abnormality of the gastrointestinal tract", - "vertebral column", - "abnormally fused anatomical entity and manual digit 3", - "telencephalon", - "bone element hypoplasia in independent continuant", - "germ line cell", - "Abnormal axial skeleton morphology", - "abnormal vertebral column", - "Leukopenia", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "abnormal hematopoietic system", - "protein-containing material entity", - "abnormally decreased number of cell in the independent continuant", - "gamete generation", - "Abnormal nervous system physiology", - "Abnormality of the immune system", + "abnormal anatomical entity morphology in the pectoral complex", "anatomical cluster", "Aplasia/Hypoplasia affecting the eye", - "Functional abnormality of male internal genitalia", "abnormal developmental process involved in reproduction", - "heart blood vessel", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "eukaryotic cell", - "hemolymphoid system", - "increased inflammatory response in lung", - "nucleate cell", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "Abnormal upper limb bone morphology", - "skin of body", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "external genitalia", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal immune system", - "abnormally decreased number of cell", - "abnormal cardiac septum morphology", - "organism substance", - "immune system", - "nucleobase-containing compound metabolic process", - "abnormally decreased number of leukocyte in the blood", - "cavitated compound organ", - "Abnormal leukocyte count", - "intestine", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "Abnormal cellular immune system morphology", - "hormone transport", - "abnormal number of anatomical enitites of type platelet", - "abnormal brain morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "forelimb", - "Abnormal forebrain morphology", - "bodily fluid", + "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", - "regional part of nervous system", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "primary metabolic process", - "forelimb endochondral element", - "Abnormality of the skin", - "abnormal duodenum morphology", - "hypothalamus-pituitary axis", - "signaling", - "abnormal anatomical entity morphology in the heart", + "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", - "vasculature", - "duodenum atresia", - "external ear", - "abnormal telencephalon morphology", - "Abnormalities of placenta or umbilical cord", - "amide transport", - "forelimb long bone", - "abnormal size of skull", - "Eumetazoa", - "Abnormal umbilical cord blood vessel morphology", - "negative regulation of cellular metabolic process", - "Eukaryota", - "abnormal central nervous system morphology", - "abnormal forebrain morphology", - "abnormal nervous system morphology", - "forebrain", - "blood cell", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "decreased biological_process in pituitary gland", - "endocrine gland", - "cranial skeletal system", - "Decreased head circumference", - "Cafe-au-lait spot", - "Hypermelanotic macule", - "late embryo", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "reproduction", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "manual digit 2 plus metapodial segment", - "reproductive structure", + "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", - "Abnormal response to endocrine stimulation test", "absent germ cell", - "abnormal external ear", - "increased biological_process", - "digit 2, 3 or 4", - "Specific learning disability", - "Abnormality of the anterior pituitary", - "decreased size of the anatomical entity", - "abnormal biological_process in independent continuant", - "abnormal appendicular skeleton morphology", - "male organism", - "Irregular hyperpigmentation", + "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", - "placenta", "organic substance metabolic process", "heart", "Abnormality of the head", "abnormal pigmentation", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal duodenum morphology", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "organ part", - "defense response", - "subdivision of tube", - "Decreased anatomical entity mass", - "Abnormality of the upper limb", - "Duodenal atresia", - "Neoplasm by anatomical site", - "respiratory tract", - "alimentary part of gastrointestinal system atresia", - "arm bone", - "Intestinal atresia", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "penis", - "digestive system element", - "abnormal alimentary part of gastrointestinal system", - "Morphological abnormality of the gastrointestinal tract", - "Abnormality of body height", - "tube", - "abnormal hormone independent continuant level", - "sensory perception", - "abnormal developmental process", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "duodenum", - "intestine atresia", - "Abnormal placenta morphology", - "digestive tract", - "Abnormal small intestine morphology", - "abnormal digestive system", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "organelle organization", - "postcranial axial skeletal system", - "abnormal spermatogenesis", + "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 lung morphology", + "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", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "extraembryonic structure", - "gamete", - "Abnormality of reproductive system physiology", - "artery", + "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", - "abnormal internal genitalia", - "Abnormality of the genital system", - "disconnected anatomical group", - "abnormal cell", - "male reproductive organ", - "Abnormal fetal cardiovascular morphology", - "Cryptorchidism", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal external male genitalia", - "changed biological_process rate in brain", - "haploid cell", - "Abnormality of the outer ear", + "absent gamete", + "sperm", "abnormal gamete", - "abnormal male reproductive system", - "semen", - "Abnormal external genitalia", - "abnormally localised anatomical entity in independent continuant", - "male gamete", - "male germ cell", - "Abnormal respiratory system morphology", - "upper urinary tract", - "decreased length of digit", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the male genitalia", + "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", - "programmed DNA elimination", - "obsolete cell", - "decreased length of long bone", - "digestive system", - "internal male genitalia", - "growth hormone secretion", - "external male genitalia", - "regulation of macromolecule metabolic process", - "abnormal reproductive process", - "absent gamete", - "abnormally localised anatomical entity", - "abnormal vasculature", - "changed developmental process rate", - "abnormal genitourinary system", - "sexual reproduction", - "developmental process involved in reproduction", + "interphase", + "semen", + "Abnormal testis morphology", + "male germ cell", "Abnormality of male external genitalia", "abnormal male reproductive system morphology", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "Non-obstructive azoospermia", - "reproductive process", - "negative regulation of metabolic process", - "decreased growth hormone secretion", - "manual digit 1 or 5", - "abdominal segment bone", - "developmental process", - "abnormal manual digit morphology in the manus", - "Abnormal internal genitalia", - "amniotic fluid", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "cardiac atrium", - "abnormal incomplete closing of the interatrial septum", - "export from cell", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "viscus", - "circulatory organ", - "bone marrow cell", - "circulatory system", - "paired limb/fin segment", - "septum", - "Abnormality of the bladder", - "abnormality of reproductive system physiology", - "Abnormal heart 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": 34, + "has_phenotype_count": 32, "highlight": null, "score": null }, { - "id": "MONDO:0044325", + "id": "MONDO:0013566", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", + "name": "Fanconi anemia complementation group L", "full_name": null, "deprecated": null, - "description": null, - "xref": ["OMIM:617784", "UMLS:C4521564"], + "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": ["FANCW", "Fanconi anemia, complementation group W"], + "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:0002984", + "HP:0040012", + "HP:0007018", + "HP:0000470", + "HP:0008551", "HP:0009777", - "HP:0000252", - "HP:0002247", - "HP:0002863", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000582", "HP:0001510", - "HP:0002119", + "HP:0000316", + "HP:0001776", + "HP:0000347", + "HP:0003974", "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049" + "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": [ - "Hypoplasia of the radius", + "Chromosome breakage", + "Attention deficit hyperactivity disorder", + "Short neck", + "Microtia", "Absent thumb", - "Microcephaly", - "Duodenal atresia", - "Myelodysplasia", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Upslanted palpebral fissure", "Growth delay", - "Ventriculomegaly", + "Hypertelorism", + "Bilateral talipes equinovarus", + "Micrognathia", + "Absent radius", "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology" + "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", - "HP:0000079", + "UPHENO:0087427", + "HP:0000122", + "GO:0030154", "UBERON:0002113", "UBERON:0011143", - "UPHENO:0075182", - "HP:0008678", + "UPHENO:0085118", + "UBERON:0002390", + "HP:0020047", + "GO:0014003", + "HP:0001877", + 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"UPHENO:0087339", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:8600018", - "HP:0031072", - "UPHENO:0075774", - "UPHENO:0001005", - "HP:0000824", - "UPHENO:0002819", - "HP:0001626", - "UBERON:0011249", - "UPHENO:0087267", - "HP:0025408", - "CL:0000988", - "UPHENO:0056059", - "UBERON:0006314", - "UPHENO:0087123", - "UBERON:0001009", - "UBERON:0004177", - "HP:0006265", - "HP:0009799", - "UPHENO:0002948", - "HP:0012210", - "UBERON:0008962", - "UBERON:0001463", - "GO:0071702", - "UBERON:0000916", - "HP:0001511", - "UBERON:0002417", - "UPHENO:0002536", - "GO:0032940", - "GO:0030072", - "UBERON:0005173", - "UBERON:0002389", - "UPHENO:0087349", - "UPHENO:0046538", - "UBERON:0000468", - "HP:0001743", - "GO:0006810", - "UBERON:0005057", - "UPHENO:0073937", - "UBERON:0005177", - "UPHENO:0014335", - "UPHENO:0077872", - "UBERON:0000007", - "UPHENO:0080221", - "HP:0032367", - "HP:0002012", - "GO:0007267", - "UPHENO:0002332", - "UBERON:0003466", - "UBERON:0000949", - "UPHENO:0046284", - "UBERON:0003937", - "UBERON:0005156", - "UPHENO:0080588", - "UBERON:0002386", - "UPHENO:0077887", - "UPHENO:0005652", - "HP:0012503", - "GO:0051179", - "UPHENO:0075220", - "UPHENO:0081628", - "UPHENO:0051668", - "UPHENO:0087355", - "UBERON:0000489", - "UBERON:0010323", - "UPHENO:0083689", - "GO:0007154", - "HP:0031071", - "UBERON:0011299", - "UPHENO:0049587", - "BFO:0000015", - "HP:0011747", - "UPHENO:0042775", - "UBERON:0034923", - "UPHENO:0086735", - "GO:0010817", - "UPHENO:0080126", - "UPHENO:0049927", - "UBERON:0015204", - "UPHENO:0087376", - "GO:0050789", - "UBERON:0002196", - "UPHENO:0046540", - "UBERON:0001894", - "HP:0025461", - "UPHENO:0051763", - "UPHENO:0083951", - "UPHENO:0075772", - "HP:0000818", - "UPHENO:0087516", - "UBERON:0010712", - "UPHENO:0076289", - "UPHENO:0076286", - "HP:0040075", - "GO:0046903", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0077890", - "GO:0030252", - "UBERON:0004122", - "UPHENO:0077889", - "UPHENO:0076287", - "CHEBI:24431", - "HP:0010993", - "UPHENO:0076735", - "GO:0015833", - "UBERON:0002316", - "GO:0002790", - "UPHENO:0076953", - "HP:0002180", - "UBERON:0000454", - "UBERON:0019221", - "HP:0002438", - "HP:0002518", - "HP:0000240", - "UPHENO:0086635", - "UBERON:0003544", - "UPHENO:0088186", - "UBERON:0005162", - "NCBITaxon:6072", - "UPHENO:0021803", - "UBERON:0000063", - "UBERON:0011216", - "HP:0011024", - "HP:0001317", - "UPHENO:0072814", - "UBERON:0004732", - "NCBITaxon:33154", - "UPHENO:0071309", - "UPHENO:0081601", - "UBERON:0002204", - "HP:0011282", - "CL:0000763", - "CL:0000000", - "HP:0025033", - "UPHENO:0088145", - "UBERON:0002371", - "HP:0025354" + "HP:0000924", + "UBERON:0004121", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", + "HP:0012759", + "HP:0007018", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", + "UPHENO:0025211", + "UPHENO:0087548", + "GO:1901360", + "UBERON:0000061", + "UBERON:0035639", + "UPHENO:0056333", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "HP:0000369", + "HP:0000118", + "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": [ - "Abnormal radial ray morphology", - "Abnormality of the genitourinary system", - "Renal hypoplasia", - "abnormal kidney morphology", - "cavitated compound organ", - "abnormal renal system", - "Abnormal renal morphology", - "compound organ", "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", - "abnormal kidney", - "abnormal size of kidney", - "Renal hypoplasia/aplasia", - "Abnormality of the upper urinary tract", - "renal system", - "genitourinary system", + "absent anatomical entity in the renal system", + "absent kidney", + "cavitated compound organ", "excretory system", - "abnormal face morphology", - "Abnormality of the face", - "anatomical entity hypoplasia in face", - "Midface retrusion", - "abnormal midface morphology", - "abnormal face", - "localization", - "Abnormal duodenum morphology", - "abnormal alimentary part of gastrointestinal system morphology", - "Decreased head circumference", - "organism", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "root", - "appendage", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal renal system morphology", - "alimentary part of gastrointestinal system", - "abnormal diencephalon", - "abnormal forebrain morphology", - "secretion", - "Eumetazoa", - "Eukaryota", - "tissue", - "craniocervical region", - "regional part of brain", - "Abnormality of brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the cardiovascular system", - "Abnormal midface morphology", - "regional part of nervous system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "main body axis", - "forelimb zeugopod bone", - "nervous system", - "abdominal viscera", - "Abnormality of the head", - "abnormal secretion in independent continuant", - "cellular organisms", - "abnormal digit", - "Metazoa", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "absent anatomical entity in the independent continuant", - "abnormal manus morphology", - "pectoral appendage skeleton", - "Finger aplasia", - "autopodial skeleton", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "haemolymphatic fluid", - "digit plus metapodial segment", - "abnormal digit morphology", - "abnormal manus", - "telencephalon", - "abnormal nervous system", - "secretion by cell", - "digit", - "abnormal hormone blood level", - "abnormal manual digit 1 morphology", + "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", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "segment of manus", - "protein-containing material entity", - "abnormal skeletal system morphology", - "abnormal biological_process in central nervous system", - "Abnormal digit morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "anterior region of body", - "Absent thumb", - "abnormal autopod region morphology", - "Hematological neoplasm", + "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", - "ectoderm-derived structure", - "subdivision of organism along main body axis", - "small intestine", - "Abnormal endocrine morphology", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "cerebral subcortex", - "acropodium region", - "bone marrow", + "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", - "Gastrointestinal atresia", - "anatomical system", - "digit 1 or 5", - "segmental subdivision of hindbrain", - "segment of autopod", - "multicellular organism development", - "reproductive system", - "aplastic manual digit 1", - "abnormal intestine morphology", - "bone cell", - "megakaryocyte", - "independent continuant", - "abnormal growth", - "cerebral hemisphere", + "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", - "material anatomical entity", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "mesoderm-derived structure", + "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", - "abnormal telencephalon morphology", + "increased qualitatively biological_process", "decreased size of the anatomical entity in the independent continuant", - "Abnormal nervous system morphology", - "abnormal limb bone", - "bone element", - "forelimb zeugopod skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "Chiari malformation", - "Abnormal cerebral subcortex morphology", - "Abnormal morphology of the radius", - "multi-limb segment region", - "Forearm undergrowth", - "blood", + "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", - "zeugopod", - "body proper", - "manual digit", - "Leukoencephalopathy", - "pectoral appendage", - "central nervous system", - "Abnormality of limb bone", - "head", - "increased size of the anatomical entity", - "limb", - "cell", - "abnormal appendicular skeleton morphology", - "Abnormality of skull size", - "pectoral complex", - "trunk region element", - "decreased developmental process", + "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", - "limb long bone", - "Short forearm", - "subdivision of digestive tract", - "delayed biological_process", - "regulation of hormone levels", - "limb endochondral element", - "Abnormality of head or neck", - "hemopoietic organ", - "long bone", - "material entity", - "Abnormal appendicular skeleton morphology", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "Aplasia/hypoplasia of the extremities", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "musculoskeletal system", + "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", - "organic substance transport", - "abnormal brain white matter morphology", + "glial cell development", + "anatomical space", "Abnormal hindbrain morphology", "phenotype", - "brain ventricle/choroid plexus", - "peptide transport", - "Abnormal cell morphology", - "anatomical entity hypoplasia", - "forelimb bone", - "hormone secretion", - "endocrine system", - "forelimb skeleton", - "abnormal localization", - "abnormal duodenum morphology", - "forelimb endochondral element", - "abnormal axial skeleton plus cranial skeleton morphology", - "Opisthokonta", - "lymphoid system", - "skeleton of limb", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the lymphatic system", - "limb bone", + "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", - "continuant", - "lateral structure", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "skeleton", - "abnormal cerebellum morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "forelimb zeugopod", - "anatomical structure development", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "digitopodium region", - "subdivision of skeleton", - "Aplasia/Hypoplasia of the radius", - "endochondral bone", - "subdivision of organism along appendicular axis", - "abnormal growth hormone secretion", - "Abnormality of the vasculature", - "abnormal central nervous system morphology", - "skull", - "limb skeleton subdivision", - "Upper limb undergrowth", - "abnormal forelimb zeugopod bone", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "postcranial axial skeleton", - "decreased qualitatively developmental process", - "abnormal manual digit morphology in the manus", - "Abnormality of the hand", - "radius bone", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "immune organ", + "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", - "duodenum atresia", - "vasculature", - "abnormal hemopoietic organ morphology", - "organ system subdivision", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Hypopituitarism", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "aplasia or hypoplasia of manual digit 1", - "system", - "appendicular skeletal system", - "abnormal spleen morphology", - "abnormal chemical entity level", - "absent anatomical entity in the multicellular organism", - "multicellular organism", - "hematopoietic system", - "Abnormal growth hormone level", - "Aplasia/hypoplasia involving the skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "bone of appendage girdle complex", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "cerebellum", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "abnormally formed cerebellum", - "Abnormal forearm bone morphology", - "abnormal metencephalon morphology", + "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", - "Microcephaly", + "upper jaw region", + "Abnormality of the ocular adnexa", + "abnormal skeletal system morphology", + "protein-containing material entity", + "segment of manus", "Abnormality of the musculoskeletal system", - "pituitary gland", - "abnormal nervous system morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal cell morphology", - "multicellular anatomical structure", - "absent anatomical entity in the forelimb", - "abnormally increased number of anatomical entity in the abdomen", - "abnormal arm", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "Neurodegeneration", - "multicellular organismal process", + "organ system subdivision", + "Abnormality of the anus", + "shape anatomical entity", "ventricular system of brain", "anatomical entity hypoplasia in independent continuant", "organism subdivision", - "organ", - "occurrent", - "glandular system", - "skeletal system", - "Abnormal cerebellum morphology", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal head", + "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", - "limb segment", - "adenohypophysis", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal development of anatomical entity", - "subdivision of trunk", - "Abnormal thumb morphology", - "phenotype by ontology source", - "abnormal endocrine gland morphology", - "digit 1 plus metapodial segment", - "abnormal skeletal system", + "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", - "quality", - "decreased biological_process in multicellular organism", - "manual digit 1", - "autopodial extension", + "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", - "subdivision of tube", - "reproductive organ", - "abnormal skull morphology", - "Short long bone", - "reproductive gland", - "Abnormality of the upper limb", - "Duodenal atresia", - "Neoplasm by anatomical site", + "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", - "abnormal cerebral hemisphere morphology", - "arm bone", - "Intestinal atresia", - "Abnormality of the gastrointestinal tract", - "Abnormality of the digestive system", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", + "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", - "digestive system element", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "Morphological abnormality of the gastrointestinal tract", - "abnormal gland morphology", - "tube", - "abnormal hormone independent continuant level", - "brain white matter", - "abnormal developmental process", - "intestine", - "upper urinary tract", - "manual digitopodium region", - "Abnormality of blood and blood-forming tissues", - "duodenum", - "intestine atresia", - "Abnormal endocrine physiology", + "abnormality of respiratory system physiology", + "thoracic segment organ", "digestive tract", - "Neoplasm", - "decreased qualitatively biological_process in independent continuant", - "Abnormal intestine morphology", - "regulation of biological quality", - "Abnormal pituitary gland morphology", - "abnormal cerebral subcortex morphology", - "midface hypoplasia", - "Abnormal small intestine morphology", - "abnormal digestive system", - "metencephalon", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal hematopoietic system", + "Abnormal tracheal morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Abnormality of the respiratory system", + "central nervous system development", "hemolymphoid system", - "Myelodysplasia", - "cell communication", - "biological_process", - "process", - "delayed growth", - "axial skeletal system", - "abnormal adenohypophysis", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "kidney", - "Growth delay", - "abnormal biological_process", - "abnormal role bodily fluid level", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "increased size of the brain ventricle", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "organ component layer", - "ventricular system of central nervous system", - "paired limb/fin segment", - "Ventriculomegaly", - "abnormal brain ventricle morphology", + "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", - "abnormal brain ventricle/choroid plexus morphology", - "decreased length of forelimb zeugopod bone", - "brain ventricle", - "changed biological_process rate", - "abnormal embryo development", - "anatomical entity", - "decreased qualitatively biological_process", - "decreased embryo development", - "spleen", - "Abnormality of the immune system", - "vascular system", - "lymphatic part of lymphoid system", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal vasculature", - "Polysplenia", - "anatomical cluster", - "manual digit 1 plus metapodial segment", - "abdomen", - "abdominal segment element", - "viscus", - "Supernumerary spleens", - "transport", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal hindbrain morphology", - "gland", - "abnormal cell", - "disconnected anatomical group", - "abnormally increased number of anatomical entity", - "white matter of telencephalon", - "bone marrow cell", - "circulatory system", - "immune system", - "Abnormal spleen morphology", - "chemical entity", - "cardiovascular system", - "abnormal lymphatic part of lymphoid system", - "peptide secretion", - "abnormal spleen", - "central nervous system cell part cluster", - "autopod region", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "anatomical conduit", - "abnormal limb morphology", - "Abnormality of the spleen", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "changed biological_process rate in brain", - "abnormally increased number of spleen", - "abnormal transport", + "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", - "Anterior hypopituitarism", - "peptide hormone secretion", - "neuroendocrine system", - "absent anatomical entity", - "decreased biological_process in independent continuant", - "abnormal bone marrow morphology", - "abnormal hypothalamus-pituitary axis", - "Abnormal metencephalon morphology", - "non-connected functional system", - "abnormality of endocrine system physiology", - "Decreased response to growth hormone stimulation test", - "regulation of biological process", - "signaling", - "hypothalamus-pituitary axis", - "malformed anatomical entity", - "aplastic anatomical entity", - "nitrogen compound transport", - "Abnormal cerebral white matter morphology", - "Abnormal response to endocrine stimulation test", - "Abnormality of bone marrow cell morphology", - "Abnormality of the endocrine system", - "abnormal cellular process", - "hindbrain", - "abnormal endocrine system", - "multi-tissue structure", - "bodily fluid", - "abnormal diencephalon morphology", - "ventricle of nervous system", - "abnormal role independent continuant level", - "decreased size of the anatomical entity", - "Abnormality of the anterior pituitary", - "abnormal biological_process in independent continuant", - "Abnormality of the diencephalon", "organism substance", - "gland of diencephalon", - "abnormal pituitary gland morphology", - "abnormal size of brain ventricle", - "abnormal secretion by cell", - "decreased biological_process in brain", - "abnormal independent continuant chemical entity level", - "manual digit 1 or 5", - "developmental process", - "decreased growth hormone secretion", - "abnormal endocrine system morphology", - "decreased secretion in independent continuant", - "abnormal bone of pectoral complex morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal anatomical entity morphology in the manus", - "abnormal role blood level", - "reproductive structure", - "neuroendocrine gland", - "Abnormal circulating hormone concentration", - "endochondral element", - "abnormal neuroendocrine gland morphology", - "abnormal cardiovascular system", - "export from cell", - "signal release", - "abnormal brain morphology", - "hormone transport", - "endocrine gland", - "cranial skeletal system", - "decreased biological_process in pituitary gland", - "abdominal segment of trunk", - "biological regulation", - "abnormal size of skull", - "forelimb long bone", - "amide transport", - "abnormal multicellular organism chemical entity level", - "Aplasia/Hypoplasia of the thumb", - "decreased secretion in pituitary gland", - "hematopoietic cell", - "growth hormone secretion", - "anatomical entity degeneration in independent continuant", - "establishment of localization", - "cell-cell signaling", - "Abnormal periventricular white matter morphology", - "multi cell part structure", - "cellular process", - "cerebral hemisphere white matter", - "subdivision of head", - "appendage girdle complex", - "abnormal megakaryocyte morphology", - "forebrain", - "white matter of forebrain", - "midface", - "white matter", - "diencephalon", - "abnormal radius bone morphology", - "embryo development", - "cerebral hemisphere white matter degeneration", - "abnormal cerebral hemisphere white matter morphology", - "anatomical entity degeneration", - "Abnormal finger morphology", - "Atrophy/Degeneration affecting the central nervous system", - "decreased length of long bone", - "digestive system", - "Cerebellar malformation", - "organ subunit", - "segmental subdivision of nervous system", - "abnormally formed anatomical entity in independent continuant", - "abnormally formed anatomical entity", - "myeloid cell", - "Megakaryocyte dysplasia", - "Abnormal megakaryocyte morphology", - "trunk", - "abnormal bone marrow cell" - ], - "has_phenotype_count": 16, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0013248", - "category": "biolink:Disease", - "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 RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], - "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" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0002984", - "HP:0009777", - "HP:0001627", - "HP:0001245", - "HP:0002023", - "HP:0000126", - "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", + "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", - "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": [ - "NCBITaxon:33154", - "HP:0002242", - "UPHENO:0002714", - "UPHENO:0087006", - "NCBITaxon:2759", - "UBERON:5001463", - "UPHENO:0009382", - "UBERON:0008837", - "UPHENO:0002905", - "HP:0000077", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "UBERON:0019221", - "UPHENO:0081466", - "UBERON:0004765", - "UBERON:0000467", - "UBERON:0001015", - "UPHENO:0080114", - "HP:0001155", - "UBERON:0015001", - "UPHENO:0005433", - "UPHENO:0008523", - "UPHENO:0006910", - "UBERON:0005451", - "UBERON:0001442", - "HP:0000001", - "UPHENO:0018390", - "UPHENO:0026181", - "UPHENO:0002964", - "UBERON:0002101", - "UPHENO:0075195", - "UPHENO:0086132", - "HP:0006501", - "UBERON:0008785", - "GO:0010558", - "UPHENO:0002786", - "UBERON:0004710", - "UPHENO:0075893", - "UPHENO:0050108", - "HP:0000107", - "UBERON:0004708", - "UBERON:0000061", - "GO:1901360", - "GO:0032504", - "UPHENO:0075159", - "HP:0040070", - "HP:0033127", - "UBERON:0001630", - "HP:0011425", - "UBERON:0012140", - "UBERON:0010363", - "GO:0044237", - "UBERON:0001474", - "GO:0006259", - "UBERON:0002100", - "UPHENO:0082875", - "UBERON:0010708", - "UPHENO:0084766", - "GO:0046483", - "UBERON:0015212", - "UBERON:0013765", - "UBERON:0012139", - "UPHENO:0012541", - "UBERON:0002204", - "UPHENO:0020041", - "UBERON:0003460", - "UPHENO:0001002", - "HP:0009601", - "UBERON:0003607", - "UBERON:0001423", - "HP:0009826", - "UBERON:0002529", - "UBERON:0006717", - "UPHENO:0001003", - "UPHENO:0076727", - "UPHENO:0084763", - "UPHENO:0020584", - "UBERON:0002091", - "UBERON:0010000", - "UPHENO:0020950", - "UPHENO:0002880", - "UBERON:0012475", - "HP:0009824", - "UPHENO:0088186", - "HP:0009815", - "HP:0006503", - "UBERON:0010758", - "UPHENO:0079872", - "GO:0019953", - "HP:0045060", - "UPHENO:0086633", - "UBERON:0005172", - "UPHENO:0002803", - "UBERON:0011584", - "UBERON:0000026", - "UBERON:0000075", - "UPHENO:0080352", - "UBERON:0015061", - "UPHENO:0002833", - "HP:0011842", - "UPHENO:0075696", - "HP:0000027", - "UPHENO:0069294", - "UPHENO:0080126", - "UBERON:0001440", - "HP:0001167", - "HP:0040064", - "UBERON:0002513", - "GO:0031323", - "GO:0022414", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081091", - "UPHENO:0002378", - "UPHENO:0076710", - "BFO:0000040", - "UPHENO:0049990", - "UPHENO:0050121", - "HP:0011314", - "UPHENO:0012274", - "UBERON:0002113", - "PATO:0000001", - "GO:0005623", - "HP:0011961", - "GO:0043170", - "UPHENO:0076703", - "UPHENO:0049700", - "HP:0005927", - "UBERON:0003101", - "BFO:0000002", - "GO:0006996", - "UPHENO:0052778", - "HP:0011927", - "HP:0009821", - "UBERON:0005881", - "UBERON:0001062", - "UBERON:0010314", - "CL:0000000", - "HP:0002664", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0046540", - "UBERON:0000477", - "GO:0090304", - "UBERON:0012141", - "UPHENO:0087510", - "UBERON:5002544", - "HP:0003220", - "HP:0000118", - "UPHENO:0001005", - "UPHENO:0076724", - "UPHENO:0081451", - "UBERON:0004120", - "HP:0040012", - "UBERON:0010707", - "UPHENO:0076723", - "NCBITaxon:131567", - "UPHENO:0049748", - "GO:0009987", - "UBERON:0010703", - "BFO:0000004", - "UBERON:0013702", - "UPHENO:0080187", - "UBERON:0002102", - "UPHENO:0081204", - "GO:0031052", - "UBERON:0000489", - "GO:0034641", - "GO:0009892", - "GO:0010605", - "UPHENO:0080079", - "UPHENO:0031839", - "UBERON:0011249", - "UPHENO:0087846", - "UBERON:0001555", - "HP:0001939", - "UPHENO:0050845", - "BFO:0000001", - "UPHENO:0002371", - "HP:0006496", - "UPHENO:0081341", - "UBERON:0001434", + "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", - "UPHENO:0049873", - "UBERON:0000153", - "UPHENO:0002647", - "HP:0011297", - "GO:0071704", - "GO:0009889", - "HP:0030680", - "UBERON:0000465", - "GO:0044238", - "UPHENO:0087547", - "GO:0008150", - "UBERON:0006866", - "UPHENO:0050116", - "GO:0050789", - "GO:0032501", - "UBERON:0013701", - "GO:0071840", - "HP:0002813", - "HP:0002818", - "HP:0040068", - "UPHENO:0002708", - "GO:0065007", - "GO:0008152", - "BFO:0000015", - "UPHENO:0049587", - "UBERON:0019231", - "UBERON:0002386", - "UBERON:0015021", - "UPHENO:0086635", - "HP:0000812", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0080099", - "UBERON:0010741", - "HP:0006265", - "UPHENO:0078606", - "HP:0002023", - "HP:0034057", - "UPHENO:0081424", - "HP:0000079", - "GO:0048523", - "UBERON:0003135", - "UPHENO:0084761", - "UPHENO:0002649", - "UBERON:5006048", - "UBERON:0003133", - "CL:0000019", - "HP:0003026", - "GO:0060255", - "GO:0009890", + "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", - "HP:0001626", + "GO:0065007", "UPHENO:0050021", - "GO:0071824", - "UBERON:0006058", - "GO:0048519", - "UPHENO:0085874", - "GO:0031324", - "UPHENO:0001001", - "HP:0002817", + "UPHENO:0050116", + "HP:0003221", + "GO:0010468", "GO:0031327", - "HP:0002984", - "UBERON:0000062", - "UBERON:0001460", - "GO:0040007", - "UPHENO:0008668", - "UPHENO:0068971", - "UBERON:0017716", - "GO:0019222", - "UPHENO:0076783", - "GO:0043933", - "UPHENO:0002896", - "RO:0002577", - "HP:0010461", - "UBERON:5002389", - "BFO:0000003", - "PR:000050567", - "GO:0010556", - "UBERON:0007272", - "UPHENO:0088142", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0087802", - "UPHENO:0086956", - "UBERON:0000475", - "UPHENO:0053644", - "UBERON:0002470", - "UPHENO:0081790", - "UBERON:0004375", - "UPHENO:0076810", - "HP:0005773", - "UBERON:0002428", - "UBERON:0010740", - "UPHENO:0081792", - "HP:0000126", - "CL:0000300", - "HP:0000083", - "UPHENO:0005597", - "HP:0025354", - "UPHENO:0081433", - "UPHENO:0002442", - "UBERON:0002389", - "UPHENO:0046538", - "UPHENO:0087349", - "UBERON:0000468", - "HP:0005922", - "UPHENO:0026183", - "UPHENO:0084771", - "UBERON:0005178", - "UPHENO:0049701", - "UPHENO:0081313", - "GO:0048232", - "UPHENO:0086172", - "UBERON:0000059", - "HP:0009115", + "UPHENO:0049748", "GO:0031049", - "UBERON:0002075", - "GO:0006725", - "UPHENO:0087501", - "UBERON:0011582", - "UPHENO:0052178", - "HP:0040072", - "UBERON:0010912", - "UPHENO:0026028", - "UPHENO:0063565", - "UPHENO:0080362", - "UPHENO:0086128", - "UBERON:0002398", - "UBERON:0009569", - "UBERON:0002495", - "UPHENO:0002751", - "UBERON:0004535", - "UBERON:0003103", - "UBERON:0001009", - "UBERON:0000948", - "NCBITaxon:6072", - "UPHENO:0076776", - "UBERON:0000915", - "UBERON:0005181", - "UBERON:0015410", - "UPHENO:0076803", - "UPHENO:0002655", - "UBERON:0004489", - "UBERON:0002471", - "UPHENO:0081755", - "UPHENO:0002816", - "UBERON:0011143", - "UPHENO:0053580", - "GO:0006325", - "UPHENO:0063639", - "HP:0011844", - "HP:0001227", - "UBERON:0034925", - "HP:0001421", - "UPHENO:0002832", - "GO:0032502", - "UPHENO:0063632", - "HP:0003011", - "HP:0001446", - "UBERON:0000161", - "UPHENO:0084841", - "UBERON:0000383", - "UBERON:0006048", - "UBERON:0007271", - "HP:0009127", - "UBERON:0007269", - "UBERON:0004480", - "UBERON:0004481", - "HP:0001245", - "HP:0004378", - "UPHENO:0046505", - "UPHENO:0086644", - "UPHENO:0079876", - "UBERON:0001007", - "HP:0011793", - "HP:0025033", - "HP:0011805", - "UPHENO:0086682", - "UBERON:0000025", - "UBERON:0034929", - "HP:0002250", - "HP:0009380", - "UPHENO:0074228", - "UBERON:0000990", - "UPHENO:0084448", - "UBERON:0001245", - "GO:0006807", - "UPHENO:0002839", - "HP:0025031", - "UBERON:0036295", - "UBERON:0004907", - "HP:0000924", - "UBERON:0004121", - "HP:0034915", - "UPHENO:0063599", "GO:0031326", - "UPHENO:0065599", - "HP:0034058", - "UBERON:0000064", - "UBERON:0001008", - "UPHENO:0015280", - "GO:0016043", - "UPHENO:0075902", - "HP:0010946", - "UPHENO:0080382", - "GO:0048609", - "GO:0003006", - "UBERON:0001224", - "HP:0001197", - "UBERON:0000922", - "HP:0010945", - "UPHENO:0075949", + "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", - "HP:0012874", - "UPHENO:0084132", - "UPHENO:0076718", - "UPHENO:0005651", - "HP:0003241", - "HP:0010935", - "UPHENO:0049940", - "HP:0000119", - "UBERON:0007100", - "UPHENO:0005016", - "UBERON:0000323", - "UPHENO:0087427", - "HP:0034242", - "UBERON:8450002", - "UBERON:0000916", - "UBERON:0002417", - "UBERON:0005173", - "OBI:0100026", - "UPHENO:0001072", - "UBERON:0034923", - "UPHENO:0084834", - "UBERON:0004054", - "UBERON:0008962", - "UBERON:0001463", - "HP:0012210", - "UPHENO:0076779", + "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", - "UPHENO:0001478", + "HP:0005922", + "UBERON:0011216", + "GO:0044237", + "UBERON:0010363", + "UPHENO:0080382", + "GO:0006259", + "UPHENO:0082875", + "UBERON:0001474", + "HP:0000315", + "UBERON:0002529", + "HP:0045060", "UBERON:0010712", - "HP:0000080", - "UPHENO:0077426", - "UBERON:0000079", - "UPHENO:0086201", - "UPHENO:0085873", - "CL:0000586", - "HP:0000028", - "UPHENO:0081423", - "UBERON:0008878", - "UBERON:0005409", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0003055", - "UBERON:0005156", - "GO:0000003", - "HP:0000811", - "HP:0012243", - "UPHENO:0085194", + "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", - "HP:0002973", + "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", - "HP:0000025", - "UPHENO:0049985", - "HP:0010944", - "HP:0001510", - "UPHENO:0086023", - "UPHENO:0080369", - "CL:0000408", - "GO:0007283", - "UBERON:0000481", - "UBERON:0004288", - "UPHENO:0002830", - "UBERON:0015228", - "CL:0000015", - "UPHENO:0002597", - "GO:0007276", - "UBERON:0000991", - "HP:0011024", - "UBERON:0011216", - "UBERON:0004175", - "UBERON:0004176", - "HP:0008669", - "UBERON:0003606", - "UPHENO:0021561", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0086198", - "UBERON:0004122", - "UPHENO:0002595", - "CL:0000413", - "CL:0000039", - "GO:0050794", - "UPHENO:0085875", - "UBERON:0014793", - "HP:0009603", - "UBERON:0004111", - "UPHENO:0080377", - "HP:0000032", - "UPHENO:0078729", - "UBERON:0000463", - "UPHENO:0076735", - "UPHENO:0078452", - "UPHENO:0053298", - "UBERON:0001052", - "UBERON:0005090", - "HP:0000078", - "HP:0012622", - "UBERON:0001968", - "UBERON:0005177", - "HP:0011277", - "UBERON:0000473", - "UBERON:0004053", - "UPHENO:0002598", - "UPHENO:0049367", - "UPHENO:0046411", + "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", - "HP:0009381", - "UPHENO:0011498", - "UBERON:0004381", - "UPHENO:0046624", - "HP:0009623", - "UBERON:0012361", - "HP:0004097", - "UPHENO:0050101", - "UBERON:0001353", - "HP:0009484", - "UPHENO:0084829", - "UPHENO:0080351", - "GO:0010468", - "UPHENO:0000541", - "UBERON:0003466", - "UPHENO:0069254", - "UPHENO:0076740", - "HP:0100871", - "HP:0000002", - "HP:0001507", - "UPHENO:0049874", - "UPHENO:0000543", - "UBERON:0013522", - "HP:0012211", - "UPHENO:0002411", - "HP:0003774", - "UPHENO:0076773", - "HP:0002589", - "UPHENO:0063629", - "HP:0011100", - "HP:0012732", - "NCBITaxon:1", - "UPHENO:0084124", - "UPHENO:0087346", - "HP:0009777", - "UBERON:0004921", - "UBERON:0000160", - "HP:0002034", - "UPHENO:0002725", - "HP:0012718", - "HP:0025023" - ], - "has_phenotype_closure_label": [ - "rectum atresia", - "abnormal rectum", - "Abnormal intestine morphology", - "lower digestive tract", - "intestine", - "rectum", - "internal anal region", - "abnormal alimentary part of gastrointestinal system", - "Anorectal anomaly", - "Abnormality of the gastrointestinal tract", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "subdivision of tube", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Metazoa", - "Rectal atresia", - "abnormal alimentary part of gastrointestinal system morphology", - "Chronic kidney disease", - "Abnormal renal physiology", - "Renal insufficiency", - "Abnormality of the urinary system physiology", - "Intestinal atresia", - "non-functional kidney", - "growth", - "decreased height of the anatomical entity", - "digestive system element", - "Growth delay", - "decreased size of the multicellular organism", - "Abnormality of body height", - "Renal cyst", - "deviation of manual digit", - "intestine atresia", - "Proximal placement of thumb", - "Eukaryota", - "Eumetazoa", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "Short finger", - "developmental process", - "reproductive process", - "abnormally localised testis", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "developmental process involved in reproduction", - "abnormally localised anatomical entity", - "abnormal reproductive system", - "absent gamete", - "sperm", - "male organism", - "reproductive structure", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "testis", - "internal male genitalia", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type sperm", - "Azoospermia", - "Abnormality of the male genitalia", - "male germ cell", - "abnormality of multicellular organism height", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "organism substance", - "semen", - "abnormal male reproductive system", - "male reproductive system", - "reproduction", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "decreased developmental process", - "reproductive organ", - "spermatogenesis", - "gamete generation", - "absent anatomical entity in the semen", - "abnormal gamete", - "abnormal number of anatomical enitites of type cell", - "external genitalia", - "internal genitalia", - "gonad", - "Abnormality of the genital system", - "abnormal internal genitalia", - "germ cell", - "Abnormality of reproductive system physiology", - "gamete", - "obsolete multicellular organism reproduction", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal spermatogenesis", - "changed biological_process rate", - "absent germ cell", - "abnormal renal system morphology", - "Abnormality of prenatal development or birth", - "multi-tissue structure", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "kidney", - "sexual reproduction", - "abnormal genitourinary system", - "increased size of the renal pelvis", - "late embryo", - "abnormal renal system", - "Abnormal renal morphology", - "embryo", - "renal pelvis", - "Abnormality of the kidney", - "renal pelvis/ureter", - "disconnected anatomical group", - "abdominal segment of trunk", - "abdomen", - "decreased length of digit", - "anatomical cluster", - "Abnormality of the upper urinary tract", - "renal system", - "Abnormal fetal genitourinary system morphology", - "organ part", - "increased size of the anatomical entity in independent continuant", - "Abnormal fetal morphology", - "Abnormal renal pelvis morphology", - "abnormally dilated renal pelvis", - "abnormal late embryo", - "Fetal pyelectasis", - "abnormal renal pelvis", - "abnormal renal pelvis morphology", - "abnormal external male genitalia", - "Fetal anomaly", - "upper urinary tract", - "Anal atresia", - "Dilatation of the renal pelvis", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "abnormal anus", - "abnormal closing of the anatomical entity", - "abnormal digestive system", - "deviation of manual digit 1", - "digestive tract", - "multicellular organismal reproductive process", - "anatomical conduit", - "anus", - "abnormal digestive system morphology", - "Neoplasm by anatomical site", - "digestive system", - "abnormality of male reproductive system physiology", - "abnormal developmental process", - "tube", - "abnormal muscle organ morphology", - "musculature of upper limb", - "haploid cell", - "appendage musculature", - "musculature of body", - "Abnormality of the musculature of the upper limbs", - "cavitated compound organ", - "abnormal musculature of upper limb", - "Abnormality of the musculature of the limbs", - "Abnormality of the musculature of the hand", - "germ line cell", - "thenar eminence hypoplasia", - "Abnormal palm morphology", - "musculature", - "Abnormality of the thenar eminence", - "abnormal musculature of limb", - "Abnormal rectum morphology", - "Abnormal testis morphology", - "Abnormal skeletal muscle morphology", - "musculature of manus", - "abnormal musculature", - "abnormal heart morphology", - "Cryptorchidism", - "heart plus pericardium", - "Abnormal heart morphology", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Fetal ultrasound soft marker", - "excretory system", - "circulatory system", - "body proper", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "Gastrointestinal atresia", - "trunk", - "limb endochondral element", - "subdivision of digestive tract", - "delayed biological_process", - "Short forearm", - "increased size of the anatomical entity", - "abnormal limb bone", - "limb bone", - "abnormal number of anatomical enitites of type anatomical entity", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "subdivision of organism along appendicular axis", - "radius bone hypoplasia", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal appendicular skeleton morphology", - "endochondral element", - "pectoral appendage", - "Deviation of the hand or of fingers of the hand", - "abnormal primary metabolic process", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "mesoderm-derived structure", - "abnormal forelimb morphology", - "abnormal long bone morphology", - "forelimb zeugopod bone hypoplasia", - "anatomical entity hypoplasia in independent continuant", - "abnormality of internal male genitalia physiology", - "organism subdivision", - "Abnormality of the musculoskeletal system", - "Limb undergrowth", - "ectoderm-derived structure", - "structure with developmental contribution from neural crest", - "long bone", - "abnormal testis morphology", - "forelimb zeugopod", - "male reproductive organ", - "cellular component organization or biogenesis", - "multicellular anatomical structure", - "forelimb endochondral element", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "decreased length of anatomical entity in independent continuant", - "skeleton of pectoral complex", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "musculature of limb", + "UPHENO:0087472", + "UBERON:0006058", + "GO:1901360", + "UPHENO:0002830", + "UPHENO:0049700", + "HP:0005927", + "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", + "UBERON:0010000", + "UBERON:0002390", + "CL:0000000", + "UPHENO:0054970", + "HP:0025354", + "HP:0005528", + "UPHENO:0005597", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0049587", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0050108", + "UBERON:0001016", + "UPHENO:0080377", + "HP:0001510", + "UPHENO:0005642", + "GO:0032501", + "HP:0001511", + "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", + "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" + ], + "has_phenotype_closure_label": [ + "programmed DNA elimination", + "obsolete cell", + "abnormal metabolic process", "negative regulation of biosynthetic process", - "decreased length of forelimb zeugopod bone", - "orifice", "DNA metabolic process", - "regulation of macromolecule biosynthetic process", - "alimentary part of gastrointestinal system", - "Abnormal reproductive system morphology", - "muscle organ", - "abnormal anatomical entity length", - "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", - "programmed DNA elimination", - "digit", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of anatomical entity height", - "bone of appendage girdle complex", - "metabolic process", - "multi-limb segment region", - "abnormal cellular process", - "root", - "appendage", - "Abnormal upper limb bone morphology", - "abnormality of kidney physiology", - "negative regulation of cellular biosynthetic process", - "Abnormal internal genitalia", - "regulation of cellular process", - "decreased height of the multicellular organism", - "Short long bone", - "male gamete generation", - "skeleton", - "Abnormal external genitalia", - "negative regulation of biological process", - "abnormal growth", - "independent continuant", - "abnormal intestine morphology", - "aplastic manual digit 1", - "reproductive system", - "organic cyclic compound metabolic process", - "segment of autopod", - "anal region", - "paired limb/fin skeleton", - "Growth abnormality", - "abnormal palmar part of manus morphology", - "programmed DNA elimination by chromosome breakage", - "regulation of gene expression", - "Small thenar eminence", - "obsolete cellular nitrogen compound metabolic process", - "organelle organization", - "Abnormal anus morphology", "protein-DNA complex organization", - "arm", - "abnormal kidney", "Abnormality of chromosome stability", - "abnormal manus", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "negative regulation of gene expression", - "Abnormality of the digestive system", "regulation of macromolecule metabolic process", - "acropodium region", - "anatomical entity", - "palmar part of manus", - "Aplasia/hypoplasia involving the skeleton", - "Deviation of finger", + "regulation of biosynthetic process", "negative regulation of metabolic process", - "alimentary part of gastrointestinal system atresia", - "cellular component organization", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abdominal segment element", - "abnormal thenar eminence", + "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", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "biological_process", - "Abnormal forearm bone morphology", - "Abnormality of the skeletal system", - "terminal part of digestive tract", - "absent anatomical entity in the limb", - "continuant", - "Abnormality of limbs", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "obsolete heterocycle metabolic process", - "non-functional anatomical entity", - "thoracic segment organ", - "aplasia or hypoplasia of radius bone", - "abnormal spatial pattern of anatomical entity", - "protein-containing complex organization", - "material entity", - "abdomen element", - "negative regulation of cellular metabolic process", - "appendicular skeletal system", - "anatomical structure", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "upper limb segment", - "appendicular skeleton", - "subdivision of organism along main body axis", - "abnormal biological_process", - "abnormal cell", - "macromolecule metabolic process", - "appendage girdle complex", - "Abnormal long bone morphology", - "skeleton of limb", - "muscle structure", - "material anatomical entity", - "external male genitalia", + "abnormal organelle organization", + "metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", "chromatin organization", - "pectoral appendage musculature", - "abnormal metabolic process", - "abnormal forelimb zeugopod morphology", + "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", - "Non-obstructive azoospermia", - "biological regulation", - "regulation of cellular biosynthetic process", - "forelimb zeugopod skeleton", + "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", - "regulation of cellular metabolic process", - "abnormality of renal system physiology", - "quality", - "regulation of biological process", - "changed developmental process rate", - "lateral structure", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the palmar part of manus", - "subdivision of trunk", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal chromatin organization", - "Chromosome breakage", - "Hypoplasia of the radius", - "paired limb/fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "bone element", - "All", - "anatomical collection", - "abnormal programmed DNA elimination by chromosome breakage", - "negative regulation of cellular process", - "decreased qualitatively reproductive process", - "genitourinary system", "forelimb skeleton", - "Abnormal cellular physiology", - "organic substance metabolic process", - "obsolete nitrogen compound metabolic process", - "abnormal upper urinary tract", - "musculoskeletal system", - "delayed growth", - "abnormal cardiovascular system", - "skeletal system", - "phenotype", - "nucleobase-containing compound metabolic process", - "absent digit", - "decreased length of long bone", - "primary metabolic process", - "skeletal element", - "zeugopod", - "autopodial extension", - "bone element hypoplasia in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "process", - "nucleic acid metabolic process", - "aplasia or hypoplasia of skeleton", + "limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "bone of appendage girdle complex", + "Abnormality of the hand", "forelimb", - "Abnormal skeletal morphology", "decreased size of the anatomical entity in the pectoral complex", - "Abnormal large intestine morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "arm bone", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "manual digit plus metapodial segment", - "abnormal limb bone morphology", - "radius endochondral element", - "Abnormality of digestive system morphology", - "thenar eminence", - "manus", - "abnormal limb", - "compound organ", - "zeugopodial skeleton", - "obsolete cell", - "limb long bone", - "Abnormality of the urinary system", - "forelimb bone", - "abnormal radius bone morphology", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of the anus", - "organ system subdivision", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "manual digit", - "Abnormal appendicular skeleton morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "palmar/plantar part of autopod", - "external soft tissue zone", - "Abnormality of limb bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "occurrent", - "organ", - "heart", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "radius bone", - "deviation of anatomical entity", - "multicellular organismal process", - "obsolete cellular aromatic compound metabolic process", - "Aplasia/hypoplasia involving forearm bones", - "forelimb long bone", - "absent sperm in the semen", - "Hydronephrosis", - "decreased length of anatomical entity", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "limb", - "cell", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forelimb zeugopod bone", - "Upper limb undergrowth", + "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", - "trunk region element", - "pectoral complex", - "Opisthokonta", - "paired limb/fin segment", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal skeletal system", - "forelimb zeugopod bone", - "subdivision of skeleton", - "endochondral bone", - "Aplasia/Hypoplasia of the radius", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "anatomical system", + "delayed biological_process", + "autopod region", "digit 1", "aplasia or hypoplasia of manual digit", - "organism", - "autopod region", + "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", - "cardiovascular system", + "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", - "agenesis of anatomical entity", - "Abnormality of the hand", - "abnormal autopod region morphology", - "bone of free limb or fin", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", + "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", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", "segment of manus", - "cellular process", - "Abnormal digit morphology", - "absent anatomical entity", - "Short thumb", + "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", - "digit 1 plus metapodial segment", - "abnormal digit morphology", - "digit plus metapodial segment", - "Abnormal finger morphology", - "abnormal male reproductive organ morphology", - "autopodial skeleton", - "Finger aplasia", - "manual digit 1 plus metapodial segment", - "Neoplasm", - "manual digit 1 or 5", - "pectoral appendage skeleton", - "abnormal manus morphology", - "primary circulatory organ", - "digit 1 or 5", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormal spermatogenesis", + "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", - "decreased spermatogenesis", - "abnormal kidney morphology", - "main body axis" + "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": 15, + "has_phenotype_count": 8, "highlight": null, "score": null }, { - "id": "MONDO:0010351", + "id": "MONDO:0012565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group B", + "name": "Fanconi anemia complementation group N", "full_name": null, "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", "xref": [ - "DOID:0111098", - "GARD:15257", - "MESH:C564497", - "NCIT:C125703", - "OMIM:300514", - "UMLS:C1845292" + "DOID:0111094", + "GARD:15500", + "MESH:C563657", + "OMIM:610832", + "UMLS:C1835817" ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FA2", - "FACB", - "FANCB", - "Fanconi Anemia, complementation group type B", - "Fanconi anaemia complementation group type B", - "Fanconi anemia complementation group B", - "Fanconi anemia complementation group type B", - "Fanconi anemia, complementation group B", - "Fanconi anemia, complementation group B, X-linked recessive", - "Fanconi pancytopenia type 2", - "Fanconi pancytopenia, type 2" + "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": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ "HP:0000470", + "HP:0002984", "HP:0009777", - "HP:0002575", - "HP:0001249", - "HP:0000238", - "HP:0000369", - "HP:0002101", - "HP:0000815", - "HP:0002247", + "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", + 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"CL:0000764", + "UBERON:0015410", + "UPHENO:0086173", "UPHENO:0063565", "UPHENO:0026028", "UPHENO:0084928", "UPHENO:0085302", - "UPHENO:0087339", - "HP:0010987", + "UPHENO:0084761", + "HP:0001872", "HP:0005561", - "HP:0011893" - ], - "has_phenotype_closure_label": [ - "decreased developmental process", - "decreased qualitatively developmental process", - "abnormal embryo development", - "changed biological_process rate", - "Intrauterine growth retardation", - "changed embryo development rate", - "Delayed CNS myelination", - "abnormal biological_process in nervous system", - "gliogenesis", - "oligodendrocyte differentiation", - "oligodendrocyte development", - "neurogenesis", - "glial cell differentiation", - "ensheathment of neurons", - "cellular developmental process", - "abnormal myelination in independent continuant", - "abnormal central nervous system myelination in independent continuant", - "delayed central nervous system myelination", - "Delayed myelination", - "Abnormal CNS myelination", - "axon ensheathment", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormality of prenatal development or birth", - "decreased embryo development", - "abnormal umbilical blood vessel morphology", - "entire extraembryonic component", - "Abnormality of the umbilical cord", - "Abnormal fetal cardiovascular morphology", - "extraembryonic structure", - "abnormal late embryo", - "Fetal anomaly", - "Abnormal cardiac ventricle morphology", + "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 interventricular septum morphology", - "abnormal incomplete closing of the interventricular septum", "abnormal cardiac ventricle morphology in the independent continuant", - "conceptus", - "abnormal biological_process in central nervous system", - "primary circulatory organ", - "abnormal anatomical entity morphology in the heart", - "heart vasculature", - "thoracic segment blood vessel", - "artery", - "Congenital malformation of the great arteries", - "circulatory organ", - "trunk blood vessel", - "abnormal artery morphology in the independent continuant", - "coronary vessel", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal systemic artery morphology", - "systemic artery", - "vasculature of organ", - "heart plus pericardium", - "vasculature of trunk", - "Aplasia/Hypoplasia of the radius", - "abnormal forelimb zeugopod bone", - "absent radius bone in the forelimb", - "Abnormalities of placenta or umbilical cord", - "forelimb long bone", - "aplastic forelimb zeugopod bone", - "Abnormal morphology of the radius", - "umbilical blood vessel", - "abnormal heart morphology", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "embryo development", - "abnormal cardiac ventricle morphology in the heart", - "abnormal radius bone morphology", - "Aplasia involving forearm bones", - "Aplasia involving bones of the extremities", - "limb long bone", - "radius endochondral element", - "abnormal forelimb zeugopod morphology", - "delayed biological_process in central nervous system", - "Abnormal forearm bone morphology", - "abnormal bone of pectoral complex morphology", - "absent radius bone", - "absent forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", - "forelimb zeugopod skeleton", - "Abnormal vertebral morphology", - "Abnormal helix morphology", - "folded anatomical entity in independent continuant", - "folded anatomical entity", - "Abnormally folded helix", - "pinna", - "abnormal helix of outer ear morphology", - "surface feature shape anatomical entity", - "abnormal penis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "External genital hypoplasia", - "Abnormal penis morphology", - "external male genitalia", - "intromittent organ", - "Abnormal external genitalia", - "decreased size of the penis", - "abnormal male reproductive system", - "abnormal vertebral column morphology", - "abnormal external male genitalia morphology", - "abnormal penis", - "male reproductive system", - "abnormal reproductive system morphology", - "decreased size of the external male genitalia", - "abnormal cerebral hemisphere morphology", - "white matter of telencephalon", - "abnormal cerebral hemisphere white matter morphology", - "white matter", - "telencephalon", - "abnormal size of corpus callosum", - "abnormal forebrain morphology", - "folded helix of outer ear", - "forebrain", - "white matter of forebrain", - "brain commissure", - "corpus callosum hypoplasia", - "decreased size of the corpus callosum", - "cerebral subcortex", - "Abnormal cerebral subcortex morphology", - "aplasia or hypoplasia of telencephalon", - "Hypoplasia of the corpus callosum", - "Abnormal ventricular septum morphology", - "Abnormal cerebral white matter morphology", - "Abnormal cerebral morphology", - "cellular process", - "cerebral hemisphere white matter", - "intercerebral commissure", - "nervous system commissure", - "Cerebral white matter hypoplasia", - "nervous system development", - "Thin corpus callosum", - "corpus callosum", - "abnormal cerebellum morphology", - "segmental subdivision of nervous system", - "external genitalia", - "cerebellum", - "metencephalon", - "delayed myelination", - "abnormal hindbrain morphology", - "Abnormal metencephalon morphology", - "cerebellum hypoplasia", - "regional part of nervous system", - "forelimb zeugopod", - "Aplasia/Hypoplasia of the cerebellum", - "Cerebellar hypoplasia", - "Abnormality of metabolism/homeostasis", - "absent anatomical entity in the skeletal system", - "Abnormal cellular physiology", - "metabolic process", - "abnormal vertebra morphology", - "Esophageal atresia", - "esophagus atresia", - "Abnormal blood vessel morphology", - "Abnormality of the vasculature", - "Abnormality of cardiovascular system morphology", - "aortic system", - "cardiovascular system", - "Coarctation of aorta", - "blood vasculature", - "arterial system", - "outflow tract", - "blood vessel", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "Abnormality of the cardiovascular system", - "aorta", - "Bilateral radial aplasia", - "abnormal metencephalon morphology", - "abnormal cardiovascular system morphology", - "abnormal aorta morphology", - "thoracic cavity blood vessel", - "helix of outer ear", - "arterial blood vessel", - "Abnormal aortic morphology", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "Aplastic anemia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "erythroid lineage cell", - "tissue", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal myelination", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Abnormality of mental function", - "abnormality of nervous system physiology", - "forelimb zeugopod bone", - "nervous system", - "renal system", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "biological_process", - "Abnormal optic nerve morphology", - "nervous system process", - "system process", - "subdivision of digestive tract", + "abnormal interventricular septum morphology", "delayed biological_process", - "Single umbilical artery", - "developing anatomical structure", - "Abnormal location of ears", - "thoracic cavity element", - "Abnormal systemic arterial morphology", - "hematopoietic system", - "respiratory airway", - "nucleate cell", - "abnormal cerebral subcortex morphology", - "respiratory tube", - "abnormal nervous system", - "abnormality of anatomical entity physiology", + "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", - "endoderm-derived structure", + "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", - "proximo-distal subdivision of respiratory tract", - "anatomical structure morphogenesis", - "Abnormality of the digestive system", - "Abnormal esophagus morphology", - "Abnormality of the vertebral column", - "retina", - "thoracic segment of trunk", - "abnormal digit", - "Abnormality of the respiratory system", - "Abnormal tracheobronchial morphology", - "anatomical cluster", - "Aplasia/Hypoplasia affecting the eye", - "abnormal esophagus morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "mesoderm-derived structure", - "abnormality of respiratory system physiology", - "Micropenis", - "Metazoa", - "Abnormal hand morphology", - "abnormal limb", - "manus", - "abnormal male reproductive organ morphology", - "occurrent", - "organ", - "appendicular skeleton", - "Abnormal cerebellum morphology", - "upper limb segment", - "limb skeleton subdivision", - "cell differentiation", - "appendicular skeletal system", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "axon ensheathment in central nervous system", + "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", - "absent anatomical entity in the renal system", - "cell", + "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", - "abnormal size of brain ventricle", "bone cell", - "arm", - "head", + "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 appendicular skeleton morphology", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormal retinal morphology", - "Finger aplasia", - "absent kidney in the renal system", - "bone of appendage girdle complex", - "anatomical wall", + "Abnormal morphology of the radius", + "zone of skin", + "forelimb skeleton", "genitourinary system", - "digestive tract", - "vessel", - "lateral structure", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "Aplasia/hypoplasia involving bones of the hand", - "decreased size of the optic disc", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal forebrain morphology", - "forelimb", + "forelimb zeugopod", + "decreased size of the anatomical entity in the pectoral complex", "abnormal digestive system", "Abnormality of the cervical spine", "Abnormal skeletal morphology", - "umbilical cord", - "autopodial skeleton", + "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", - "Abnormal ear morphology", - "abnormal autopod region morphology", - "Absent thumb", - "Low-set ears", - "abnormal ear", - "penis hypoplasia", + "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", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "lung lobe formation", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "multicellular organism development", - "reproductive system", + "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", - "Abnormal fetal morphology", - "commissure of telencephalon", - "abnormal intestine morphology", + "segment of autopod", + "organic cyclic compound metabolic process", + "anatomical line between pupils", "independent continuant", "abnormal leukocyte morphology", - "radius bone", - "Abnormality of the hand", - "embryonic cardiovascular system", + "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", - "segmental subdivision of hindbrain", + "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", - "Aplasia/hypoplasia involving the skeleton", - "optic disc hypoplasia", - "decreased qualitatively biological_process", - "anatomical entity", - "long bone", - "material entity", - "abnormal respiratory system morphology", - "vertebral element", - "viscus", + "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", - "Abnormal cardiac septum morphology", - "subdivision of skeleton", - "endochondral bone", - "cervical vertebra", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "animal organ development", - "abnormal anatomical entity morphology", - "Abnormality of head or neck", - "skeletal element", - "thoracic segment organ", - "anatomical collection", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the optic nerve", - "abnormal cellular process", - "secretory cell", - "bone element", - "abnormal platelet", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Cognitive impairment", - "abnormal central nervous system myelination", - "organ subunit", - "obsolete cell", - "digestive system", - "abnormal optic disc morphology", - "paired limb/fin", - "Morphological abnormality of the gastrointestinal tract", - "appendage", - "root", - "Aplasia/Hypoplasia of fingers", - "delayed biological_process in independent continuant", - "digitopodium region", - "abnormal anatomical entity", - "Phenotypic abnormality", - "abnormal anatomical entity morphology in the retina", - "bone of pectoral complex", - "decreased length of anatomical entity", - "zeugopodial skeleton", - "abnormal cerebrospinal fluid morphology", - "entity", - "abnormal anatomical entity morphology in the manus", - "skeleton", - "abnormal limb morphology", - "anatomical conduit", - "heart", - "Abnormality of the head", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "anatomical structure", - "absent anatomical entity in the forelimb", - "multicellular anatomical structure", - "Abnormality of the gastrointestinal tract", + "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", - "glial cell development", - "Abnormal hindbrain morphology", + "nucleobase-containing compound metabolic process", "phenotype", "Abnormal cell morphology", - "musculoskeletal system", - "Abnormality of the eye", - "axon tract", - "abnormal upper urinary tract", - "Abnormality of the neck", - "manual digit 1", - "autopodial extension", - "abnormal face", - "abnormal alimentary part of gastrointestinal system", - "organ system subdivision", - "embryo", - "abnormal blood cell", - "erythrocyte", - "abnormal vertebral column", - "Aplasia/hypoplasia of the extremities", - "forelimb skeleton", - "endocrine system", - "abnormally decreased functionality of the anatomical entity", + "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", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "limb segment", - "subdivision of vertebral column", - "absent manual digit", - "decreased size of the cerebellum", - "abnormal phenotype by ontology source", - "abnormal anatomical entity morphology in the independent continuant", - "brain", - "abnormal craniocervical region morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", "continuant", - "absent radius bone in the independent continuant", - "systemic arterial system", "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", - "abnormal blood vessel morphology", - "lung", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "cognition", - "neck", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "Renal hypoplasia/aplasia", - "trunk or cervical vertebra", - "Fetal ultrasound soft marker", - "abnormal neck", - "abnormal brain ventricle morphology", - "endochondral element", "craniocervical region", - "abnormal trachea morphology", - "male organism", + "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", - "anterior region of body", - "aplastic anatomical entity", - "Absent forearm bone", - "abnormal manual digit 1 morphology", - "Abnormal tracheal morphology", - "abnormal respiratory tube morphology", - "dorsum", - "abnormal coronary vessel morphology", - "tracheobronchial tree", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "protein-containing material entity", - "abnormal skeletal system morphology", - "segment of manus", - "main body axis", - "abnormal kidney morphology", - "decreased length of neck", - "cervical vertebra endochondral element", - "postcranial axial skeleton", - "abnormal external ear morphology", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "bone of dorsum", - "abnormal neck morphology", - "abnormal artery morphology", - "Abnormal forearm morphology", - "vertebra", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "reproductive organ", - "cell development", - "skeleton of manus", - "shape helix of outer ear", + "Abnormal finger morphology", "abnormal digestive system morphology", "abnormal forelimb morphology", - "quality", - "abnormal tracheobronchial tree morphology", - "Abnormal finger morphology", - "Abnormal neck morphology", - "anatomical system", - "upper digestive tract", - "abnormal digit morphology", - "abnormal skeletal system", - "digit 1 plus metapodial segment", - "material anatomical entity", - "skeleton of limb", - "digit plus metapodial segment", - "subdivision of tube", - "aplasia or hypoplasia of manual digit 1", - "system", - "circulatory system", - "bone marrow cell", - "tube", - "brain white matter", - "abnormal developmental process", - "penis", - "digestive system element", + "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", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", - "Abnormal corpus callosum morphology", - "irregular bone", - "organism", - "abnormal limb bone", - "Abnormal nervous system morphology", - "sense organ", - "limb", - "increased size of the anatomical entity", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "multicellular organismal process", - "organ part", - "absent anatomical entity in the multicellular organism", - "abnormal ductus arteriosus morphology", - "manual digit plus metapodial segment", - "Intellectual disability", - "bone marrow", - "subdivision of organism along main body axis", - "small intestine", - "agenesis of anatomical entity", + "non-material anatomical boundary", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", "abnormal manual digit morphology in the manus", - "Abnormal digit morphology", - "phenotype by ontology source", - "abnormal development of anatomical entity", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "absent anatomical entity", - "abnormal opening of the anatomical entity", - "ductus arteriosus", - "dorsal region element", - "body proper", - "respiratory system", - "pectoral appendage", - "abnormal hematopoietic system morphology", - "system development", - "digit", - "multi-limb segment region", - "acropodium region", - "tube development", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "cerebrospinal fluid", - "All", - "posterior segment of eyeball", - "ectoderm-derived structure", - "Hydrocephalus", - "Abnormal leukocyte count", - "cavitated compound organ", - "aplasia or hypoplasia of cerebellum", - "abnormally increased number of anatomical entity in the independent continuant", - "surface feature shape anatomical entity in independent continuant", - "Abnormal optic disc morphology", - "abnormal brain white matter morphology", - "Abnormality of the outer ear", - "abnormal cardiac septum morphology", - "organism substance", - "Abnormality of limb bone", - "central nervous system", - "ventricular system of central nervous system", - "abnormally increased number of anatomical entity", - "Morphological central nervous system abnormality", - "organ component layer", - "Abnormality of the urinary system", - "Absent radius", - "Abnormal cerebrospinal fluid morphology", - "myelination", - "vascular system", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "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", - "Aplasia/Hypoplasia of the corpus callosum", - "appendage girdle complex", - "subdivision of head", - "transudate", - "abnormal central nervous system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal nervous system morphology", - "abnormal umbilical cord", + "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", - "Abnormal cerebral ventricle morphology", - "abnormal brain ventricle/choroid plexus morphology", - "ventricle of nervous system", - "increased size of the anatomical entity in independent continuant", - "vestibulo-auditory system", - "abnormal cranial nerve II morphology", - "hematopoietic cell", - "cellular organisms", - "Abnormal lung morphology", - "Decreased anatomical entity position", - "abnormal ear morphology", + "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", - "late embryo", - "Gastrointestinal atresia", - "abnormal location of anatomical entity", - "lower respiratory tract", - "abnormal bone marrow morphology", - "non-connected functional system", - "abnormal location of ear", - "ear", - "anatomical entity hypoplasia in face", - "abnormal head morphology", + "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", - "gonad", - "abnormal growth", - "abnormal ocular fundus morphology", - "Decreased external ear position", - "platelet", - "abnormal location of external ear", - "Abnormality of the ear", - "Neoplasm", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "orbital region", - "abnormal telencephalon morphology", - "external ear", - "abnormal anatomical entity topology in independent continuant", - "Patent ductus arteriosus", - "dorsal part of neck", - "Abnormal pinna morphology", - "abnormal external ear", - "abnormal bone marrow cell", - "trunk", + "anus atresia", + "Short long bone", + "abnormal skull morphology", + "abnormal immune system", + "Acute leukemia", + "camera-type eye", "abnormal shape of continuant", - "zeugopod", - "pair of lungs", - "segment of autopod", - "respiration organ", - "lung lobe development", - "Abnormal respiratory system physiology", - "Abnormal lung development", - "Abnormal lung lobation", - "abnormal lung lobe formation", - "abnormal lung morphology", - "Hypoplastic male external genitalia", - "anatomical structure development", - "anatomical structure formation involved in morphogenesis", - "Hypergonadotropic hypogonadism", - "respiratory system development", - "Abnormality of the orbital region", - "Aplasia/hypoplasia involving forearm bones", - "lung development", - "tract of brain", - "abnormally decreased functionality of the gonad", - "respiratory tube development", - "lung morphogenesis", - "Aplasia/Hypoplasia affecting the fundus", - "Abnormal platelet count", - "manual digit 1 or 5", - "developmental process", - "Abnormal myelination", + "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", - "abnormality of reproductive system physiology", - "Abnormality of the genital system", - "regional part of brain", - "Abnormal posterior eye segment morphology", - "Abnormality of reproductive system physiology", - "Abnormality of the endocrine system", - "hindbrain", - "animal organ morphogenesis", - "abnormal endocrine system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Hypogonadism", - "Puberty and gonadal disorders", - "ventricular system of brain", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "glandular system", - "reproductive structure", - "changed developmental process rate", - "abnormal brain commissure morphology", - "dorsal telencephalic commissure", - "abnormal vasculature", - "abnormal genitourinary system", - "blood cell", - "Abnormality of the genitourinary system", - "Abnormal duodenum morphology", - "abnormal axon tract morphology", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Duodenal atresia", - "vasculature", - "duodenum atresia", - "forelimb endochondral element", - "abnormal duodenum morphology", - "abnormal systemic arterial system morphology", - "Short neck", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal external genitalia", - "Abnormal renal morphology", - "respiratory tract", - "alimentary part of gastrointestinal system atresia", - "arm bone", - "Intestinal atresia", - "intestine", - "duodenum", - "intestine atresia", - "Abnormal small intestine morphology", - "aplasia or hypoplasia of corpus callosum", - "abnormal closing of the anatomical entity", - "abnormal small intestine", - "Abnormality of the male genitalia", + "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", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", "upper urinary tract", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "cardiac chamber", + "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 corpus callosum morphology", - "abnormal orbital region", - "Aplasia/Hypoplasia of the cerebral white matter", - "visual system", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "multi cell part structure", - "central nervous system myelination", - "abnormal posterior segment of eyeball morphology", + "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", - "Ventricular septal defect", - "cerebral hemisphere", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "bodily fluid", - "multi-tissue structure", - "abnormal vascular system morphology", - "photoreceptor array", - "cranial neuron projection bundle", - "abnormal retina morphology", - "great vessel of heart", - "abnormal myeloid cell morphology", - "external male genitalia hypoplasia", - "brain ventricle/choroid plexus", - "aplasia or hypoplasia of cranial nerve II", - "camera-type eye", - "chorioretinal region", - "abnormal immune system", - "optic disc", - "central nervous system cell part cluster", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "ocular fundus", - "brain ventricle", + "decreased size of the eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", "eyeball of camera-type eye", - "cervical region", - "Optic disc hypoplasia", - "Eumetazoa", - "Abnormal umbilical cord blood vessel morphology", - "Eukaryota", - "neuron projection bundle", "simple eye", - "trachea", "Abnormality of the skeletal system", "biogenic amine secreting cell", - "cranial nerve II", - "central nervous system development", - "esophagus", - "hemolymphoid system", - "abnormal size of optic disc", - "Abnormality of the face", - "abnormal face morphology", - "forelimb bone", - "anatomical entity hypoplasia", - "increased size of the brain ventricle", - "septum", - "paired limb/fin segment", - "Ventriculomegaly", - "excretory system", - "absent kidney", - "Abnormality of the upper urinary tract", - "manual digit 1 plus metapodial segment", - "abdomen", - "lung lobe morphogenesis", - "abdominal segment of trunk", - "abdominal segment element", - "subdivision of skeletal system", - "absent kidney in the independent continuant", - "abdomen element", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abnormal renal system", - "abnormal respiratory system", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal biological_process", + "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 dorsal telencephalic commissure morphology", - "alimentary part of gastrointestinal system", - "abnormal renal system morphology", - "Overfolded helix", + "abnormal biological_process", + "Decreased multicellular organism mass", + "abnormally decreased number of cell", "Abnormal leukocyte morphology", "Abnormal platelet morphology", - "cardiac septum", - "anucleate cell", - "abnormal number of anatomical enitites of type cell", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", + "myeloid cell", + "platelet", + "Abnormality of bone marrow cell morphology", "pectoral appendage skeleton", "abnormal blood cell morphology", - "Abnormal cellular phenotype", - "myeloid cell", + "cardiac septum", + "anucleate cell", + "oxygen accumulating cell", "abnormal brain morphology", "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of cell", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", + "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", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "multicellular organism", - "Thrombocytopenia", - "Abnormal nervous system physiology", - "Abnormality of the immune system", - "heart blood vessel", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "eukaryotic cell", - "oxygen accumulating cell", - "Abnormal fundus morphology", - "Abnormality of bone marrow cell morphology", - "leukocyte", - "immune system", + "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" + "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": 30, + "has_phenotype_count": 25, "highlight": null, "score": null }, @@ -16492,2598 +14211,5205 @@ "has_phenotype": [ "HP:0002984", "HP:0009777", - "HP:0000957", + "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", + 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"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", - "Vitiligo" - ], - "has_phenotype_closure": [ - "HP:0000086", - "GO:0022414", - "UPHENO:0053580", - "UPHENO:0005597", - "UPHENO:0049367", - "UPHENO:0002598", - "UBERON:0004054", - "UBERON:0000473", - "UBERON:0001968", - "HP:0000078", - "UPHENO:0078452", - "GO:0048232", - "UPHENO:0049940", - "UPHENO:0052778", - "HP:0000032", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0049701", - "GO:0032504", - "UPHENO:0086198", - "HP:0000035", - "UPHENO:0005016", - "UBERON:0000463", - "UPHENO:0078729", - "HP:0008669", - "UBERON:0004176", - "GO:0007283", - "GO:0007276", - "UPHENO:0087547", - "CL:0000408", - "UBERON:0003101", - "UPHENO:0050101", - "UPHENO:0002378", - "UPHENO:0049985", - "UPHENO:0085194", - 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"UBERON:0002513", - "GO:0048523", "HP:0000079", - "HP:0011017", - "NCBITaxon:33208", - "UPHENO:0002536", - "HP:0006501", - "HP:0000152", - "GO:0032501", - "UBERON:0013701", - "UBERON:0000073", - "GO:0034641", - "HP:0000929", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0054970", - "UBERON:0001016", - "UPHENO:0020888", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0008523", - "UPHENO:0087518", - "GO:0043473", - "BFO:0000015", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0030791", - "UBERON:0002097", - "UBERON:0002193", - "UBERON:0000004", - "UPHENO:0082682", - "NCBITaxon:1", - "HP:0001034", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0080325", - "UBERON:0015203", - "UPHENO:0002642", - "NCBITaxon:2759", - "UBERON:5001463", - "CL:0000738", - "UPHENO:0088116", - "UPHENO:0002905", - "UBERON:0002199", - "HP:0000077", - "UPHENO:0076723", - "NCBITaxon:131567", - "UBERON:0002544", - "UPHENO:0086700", - "UPHENO:0026506", - "HP:0008069", - "UBERON:0019221", - "UBERON:0000467", - 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"UBERON:0000019", - "HP:0005922", - "UBERON:0004175", - "UBERON:0011216", - "UBERON:0005881", - "UBERON:0001062", - "HP:0001873", - "UBERON:0010314", - "UPHENO:0080662", + "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": null, + "score": null + }, + { + "id": "MONDO:0014986", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group R", + "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"], + "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" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001249", "HP:0009777", - "UBERON:0004921", - "UBERON:0004120", - "HP:0040064", - "HP:0001167", - "UBERON:0002386", - "UPHENO:0087472", - "UBERON:0000020", - "UBERON:0011249", - "BFO:0000003", - "UBERON:5002389", - "UPHENO:0086049", - "PR:000050567", - "UBERON:0001711", - "UPHENO:0053298", - "UBERON:0000165", - "UBERON:0010741", - "HP:0002692", - "UBERON:0004756", - "UBERON:5002544", - "UPHENO:0087510", - "UBERON:0006048", - "UPHENO:0086956", - "UBERON:0000955", - "UBERON:0010703", - "HP:0000436", - "HP:0000365", - "GO:0009987", - "UPHENO:0081204", - "HP:0000002", - "HP:0000953", - "UPHENO:0076740", - "UBERON:0002514", - "UPHENO:0050620", - "UPHENO:0001005", - "HP:0040195", - "UBERON:0007272", - "UPHENO:0031839", - "UBERON:0000991", - "UBERON:0005944", - "UBERON:0034925", - "UPHENO:0004459", + "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", + "HP:0000252", + "HP:0001510", + "HP:0006349", + "HP:0000125", + "HP:0005528", + "HP:0000568", + "HP:0007099", "HP:0001903", - "BFO:0000020", - "UBERON:0012354", - "UPHENO:0081566", - "HP:0011121", - "HP:0000027", - "UPHENO:0069294", - "CL:0000019", - "HP:0003026", - "UPHENO:0085068", - "UBERON:0004708", - "UPHENO:0050108", - "HP:0000414", - "UBERON:0001442", - "UPHENO:0074584", - "BFO:0000040", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0018390", - "UBERON:0001444", - "UPHENO:0081790", - "HP:0100547", - "UPHENO:0084763", - "UBERON:0000062", - "UPHENO:0076703", - "UPHENO:0086589", - "UPHENO:0076791", - "RO:0002577", - "HP:0000951", - "UPHENO:0002828", - 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"UPHENO:0063565" ], "has_phenotype_closure_label": [ - "Pelvic kidney", - "Ectopic kidney", - "reproductive process", - "Abnormal testis morphology", - "abnormal male reproductive system morphology", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "male gamete generation", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "decreased developmental process", - "absent gamete", - "sperm", - "reproductive structure", - "decreased qualitatively developmental process", - "decreased spermatogenesis", - "external male genitalia", - "testis", - "Abnormal reproductive system morphology", - "Azoospermia", - "male germ cell", - "male gamete", - "abnormally localised anatomical entity in independent continuant", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "organism substance", - "semen", - "reproduction", - "abnormal testis morphology", - "abnormal number of anatomical enitites of type sperm", - "male reproductive system", - "abnormal location of anatomical entity", - "spermatogenesis", - "absent anatomical entity in the semen", - "abnormal developmental process involved in reproduction", - "Functional abnormality of male internal genitalia", - "abnormal gamete", - "Abnormality of reproductive system physiology", - "haploid cell", - "reproductive system", - "Cryptorchidism", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "abnormal internal genitalia", - "germ cell", - "gamete", - "abnormality of reproductive system physiology", - "absent germ cell", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal developmental process", - "sensory perception", - "decreased sensory perception of sound", - "abnormal sensory perception", - "Hearing abnormality", - "abnormality of anatomical entity physiology", - "ear", - "multicellular organismal process", - "sensory perception of sound", - "system process", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Short stature", - "abnormal size of multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "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", - "Abnormality of metabolism/homeostasis", - "regulation of cellular biosynthetic 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", - "DNA metabolic process", - "vestibulo-auditory system", - "protein-DNA complex organization", - "nervous system process", "abnormal nitrogen compound metabolic process", - "abnormal organelle 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", - "regulation of biological process", - "Abnormal ear physiology", - "obsolete nitrogen compound metabolic process", - "cellular metabolic process", - "abnormal cellular component organization", - "Chromosome breakage", - "negative regulation of gene expression", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "cellular process", - "abnormal DNA metabolic process", - "Abnormality of head or neck", - "craniocervical region", + "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", - "aplasia or hypoplasia of telencephalon", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal external genitalia", - "Abnormal renal morphology", - "regional part of nervous system", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the 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 cellular immune system morphology", - "Abnormal cerebral morphology", - "arm bone", - "main body axis", - "abnormal kidney morphology", - "Narrow palpebral fissure", - "renal system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", "multi-tissue structure", - "axial skeleton plus cranial skeleton", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "sensory system", - "abnormal nervous system", - "organic substance metabolic process", - "Abnormality of the head", - "abnormal pigmentation", - "pigmentation", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormality of skin pigmentation", - "skeleton of limb", - "neural crest-derived structure", - "aplasia or hypoplasia of skull", - "increased qualitatively biological_process", - "anatomical collection", - "All", - "increased biological_process in skin of body", - "abnormally increased volume of nose", - "increased biological_process", - "abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "Abnormal oral morphology", - "abnormal anatomical entity morphology", - "increased pigmentation", - "increased qualitatively biological_process in independent continuant", - "absent sperm", + "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", - "process", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "Cafe-au-lait spot", - "primary subdivision of skull", - "obsolete cellular nitrogen compound metabolic process", - "abnormal integument", - "biological_process", - "obsolete multicellular organism reproduction", + "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", - "Metazoa", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of chromosome stability", - "immaterial entity", - "abnormally localised testis", - "absent anatomical entity in the independent continuant", - "Aplasia/Hypoplasia of the thumb", + "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", - "Abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of the thumb", + "manual digit 1 plus metapodial segment", "abnormal manus morphology", - "Neoplasm", - "digit", - "Hyperpigmentation of the skin", - "abnormal manual digit 1 morphology", - "Short thumb", - "integumental system", - "absent anatomical entity", + "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", - "segment of manus", - "gamete generation", "protein-containing material entity", "abnormal skeletal system morphology", - "Abnormal digit morphology", - "abnormal immune system morphology", - "Absent thumb", - "abnormal autopod region morphology", - "agenesis of anatomical entity", - "ectoderm-derived structure", - "abnormal anatomical entity morphology in the manus", - "abnormal facial skeleton morphology", - "negative regulation of cellular process", - "abnormal limb", - "bone marrow", - "skeleton of manus", - "Aplasia/Hypoplasia of the cerebrum", - "autopod region", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", "organism", - "Neoplasm of the skin", - "anatomical system", - "segment of autopod", - "organic cyclic compound metabolic process", - "aplastic manual digit 1", - "dentary", - "independent continuant", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal size of anatomical entity", - "material anatomical entity", - "abnormal anatomical entity length", - "abnormal postcranial axial skeleton morphology", - "manual digit plus metapodial segment", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "decreased size of the anatomical entity in the independent continuant", - "abnormal cellular process", - "secretory cell", - "Abnormal nervous system morphology", - "abnormal limb bone", - "sense organ", - "bone element", + "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", - "abnormal limb morphology", - "forelimb zeugopod skeleton", - "facial skeleton", - "paired limb/fin", - "Hypoplasia of the radius", - "abnormal head morphology", - "abnormal multicellular organismal reproductive process", - "manual digit", - "U-shaped anatomical entity", - "multi-limb segment region", - "endochondral element", - "Forearm undergrowth", - "abnormal biological_process in independent continuant", + "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", - "skeletal element", - "zeugopod", - "body proper", - "central nervous system", - "Abnormality of limb bone", - "head", - "digit plus metapodial segment", - "external soft tissue zone", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "increased size of the anatomical entity", - "limb", - "decreased size of the multicellular organism", - "Abnormality of skull size", + "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", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "zeugopodial skeleton", - "limb long bone", - "Short forearm", - "delayed biological_process", - "subdivision of digestive tract", - "limb endochondral element", - "Macule", - "negative regulation of biosynthetic process", - "long bone", - "material entity", - "decreased width of the palpebral fissure", - "Abnormal appendicular skeleton morphology", - "Abnormal skeletal morphology", - "Abnormal forebrain morphology", - "forelimb", - "decreased size of the anatomical entity in the pectoral complex", - "autopodial skeleton", - "Abnormal facial skeleton morphology", - "Aplasia/hypoplasia of the extremities", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia involving bones of the hand", - "negative regulation of macromolecule biosynthetic process", - "germ line cell", - "bone element hypoplasia in independent continuant", - "abnormal gamete generation", - "leukocyte", - "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", - "quality", - "anatomical entity hypoplasia", - "forelimb bone", - "Morphological central nervous system abnormality", - "Abnormality of the urinary system", - "forelimb skeleton", - "genitourinary system", - "primary metabolic process", - "Abnormality of the skin", - "forelimb endochondral element", - "abnormal number of anatomical enitites of type anatomical entity", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "limb bone", - "abnormal craniocervical region morphology", - "continuant", - "lateral structure", - "integument", - "skeleton of pectoral complex", - "decreased length of anatomical entity in independent continuant", - "paired limb/fin segment", - "compound organ", - "eye", - "skeleton", - "abnormal long bone morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "forelimb zeugopod", - "Aplasia/Hypoplasia of fingers", - "digitopodium region", - "appendage", - "root", + "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", - "Aplasia/Hypoplasia of the radius", "endochondral bone", - "paired limb/fin skeleton", - "abnormal spermatogenesis", - "organelle organization", + "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", - "abnormal digit morphology", - "skeleton of lower jaw", - "subdivision of organism along appendicular axis", + "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", - "limb skeleton subdivision", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "decreased length of anatomical entity", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "nervous system", - "forelimb zeugopod bone", + "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", - "Abnormal internal genitalia", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", + "abnormal DNA metabolic process", + "blood cell", "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "abnormal limb bone morphology", - "abnormal phenotype by ontology source", - "decreased size of the mandible", - "absent manual digit", + "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", - "organ system subdivision", - "decreased length of palpebral fissure", - "abnormal blood cell", - "erythrocyte", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "membrane bone", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "system", - "bone marrow cell", - "appendicular skeletal system", - "Abnormal nasal morphology", - "absent anatomical entity in the multicellular organism", - "hematopoietic system", - "Aplasia/hypoplasia involving the skeleton", - "decreased qualitatively biological_process", - "anatomical entity", - "bone of appendage girdle complex", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased biological_process", - "radius bone hypoplasia", - "aplasia or hypoplasia of anatomical entity", - "absent sperm in the semen", + "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", - "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", + "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": null, + "score": null + }, + { + "id": "MONDO:0014987", + "category": "biolink:Disease", + "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 XRCC2 gene.", + "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], + "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" + ], + "uri": null, + "iri": null, + "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", - "Abnormality of the musculoskeletal system", - "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", - "radius endochondral element", - "Aplasia/hypoplasia involving forearm bones", - "abnormal nose tip morphology", - "obsolete cellular aromatic compound metabolic process", - "organism subdivision", - "organ", - "abnormal male reproductive organ morphology", - "occurrent", - "skeletal system", - "motile cell", - "upper limb segment", - "appendicular skeleton", - "abnormal upper urinary tract", - "Limb undergrowth", - "abnormal face morphology", - "arm", - "abnormal nose morphology", - "anatomical structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "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", + "UPHENO:0069294", + "UPHENO:0080126", + 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"UBERON:0015043", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010605", + "UBERON:0005897", + "UPHENO:0080191", + "UBERON:0004111", + "UBERON:0011137", + "UBERON:5102544", + "UBERON:5002389", + "HP:0009659" + ], + "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", + "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", + "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", - "subdivision of trunk", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "bone of lower jaw", - "mandible hypoplasia", + "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", + "Absent thumb", "aplasia or hypoplasia of skeleton", "abnormal craniocervical region", - "abnormal mouth", - "male organism", - "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", + "limb", + "Abnormality of the upper limb", + "cell", + "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", + "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", + "primary metabolic process", + "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", + "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", - "subdivision of head", - "appendage girdle complex", - "macromolecule metabolic process", - "manual digit 1", - "regulation of metabolic process", - "autopodial extension", - "abnormal face", - "abnormal telencephalon morphology", - "Opisthokonta", - "abnormal axial skeleton plus cranial skeleton morphology", - "tissue", - "forelimb long bone", - "abnormal size of skull", - "cell", - "Abnormality of the mouth", - "Eumetazoa", - "negative regulation of cellular metabolic process", - "Eukaryota", - "decreased length of manual digit", - "abnormal central nervous system morphology", - "abnormal reproductive 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", + "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 forebrain morphology", - "abnormal nervous system morphology", - "abnormal cell morphology", - "telencephalon", - "forebrain", - "blood cell", - "head bone", + "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", - "cranial skeletal system", - "postcranial axial skeleton", - "Decreased head circumference", - "pectoral complex", - "dermatocranium", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "obsolete heterocycle metabolic process", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", + "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", - "Squamous cell carcinoma", - "delayed growth", - "axial skeletal system", - "Growth abnormality", - "aplasia or hypoplasia of manual digit", - "face", - "abnormal orbital region", + "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", + "continuant", + "forelimb zeugopod", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "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", - "kidney", - "abnormal biological_process", - "Growth delay", - "digestive system element", - "Aplasia/hypoplasia involving bones of the upper limbs", - "growth", - "decreased width of the anatomical entity", - "Abnormality of the upper urinary tract", - "Vitiligo", - "acropodium region", - "Short palpebral fissure", - "Abnormal eyelid morphology", - "multi organ part structure", - "hemolymphoid system", - "organ part", - "Abnormality of the orbital region", - "Abnormal size of the palpebral fissures", - "non-connected functional system", - "orbital region", - "camera-type eye", - "Abnormality of the hand", - "radius bone", - "Anemia", - "palpebral fissure", - "Abnormality of the ear", - "eyelid", - "Blepharophimosis", - "bone of free limb or fin", - "abnormal bone marrow cell morphology", - "abdomen element", - "reproductive organ", - "Short long bone", - "abnormal skull morphology", - "abnormal palpebral fissure", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "abnormal size of palpebral fissure", - "Non-obstructive azoospermia", - "abnormal ocular adnexa", - "abnormal bone of pectoral complex morphology", - "orifice", - "ocular adnexa", - "simple eye", - "Abnormality of the skeletal system", - "biogenic amine secreting cell", - "manus", - "abnormal eyelid morphology", - "decreased height of the anatomical entity", - "regulation of cellular process", - "Abnormality of the face", + "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", - "abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "abnormal hematopoietic system", - "Abnormality of the immune system", - "regulation of macromolecule biosynthetic process", + "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", - "Thrombocytopenia", - "abnormal limb long bone morphology", - "eukaryotic cell", - "hematopoietic cell", - "anucleate cell", - "changed biological_process rate", - "external nose", - "oxygen accumulating cell", - "nucleate cell", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal number of anatomical enitites of type cell", - "sensory perception of mechanical stimulus", - "skin of body", - "Abnormal upper limb bone morphology", - "abnormally decreased number of anatomical entity", - "Abnormal immune system morphology", - "pectoral appendage skeleton", - "abnormal blood cell morphology", - "Abnormal erythroid lineage cell morphology", - "myeloid cell", - "absent sperm in the independent continuant", - "platelet", - "abnormal brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal immune system", - "abnormal hematopoietic system morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "specifically dependent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "male reproductive organ", - "disconnected anatomical group", - "abnormal cell", + "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 leukocyte count", - "primary subdivision of cranial skeletal system", - "abnormal hematopoietic cell morphology", - "digit 1", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "internal male genitalia", - "programmed DNA elimination", + "abnormal brain morphology", + "abnormal phenotype by ontology source", + "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", - "digestive system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "Abnormal platelet count", - "nucleobase-containing compound metabolic process", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manus", - "bone element hypoplasia in face", - "digit 1 or 5", - "U-shaped kidney", - "bone of jaw", - "subdivision of tube", - "aplasia or hypoplasia of mandible", - "Abnormality of the digestive system", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "abnormal digit", - "lower jaw region", - "Pancytopenia", - "decreased width of the anatomical entity in independent continuant", - "abnormal head", - "jaw region", - "abnormality of anatomical entity height", + "programmed DNA elimination", "subdivision of organism along main body axis", - "dermal skeletal element", - "Abnormality of the integument", - "increased size of the anatomical entity in independent continuant", - "abnormal male reproductive system", - "abnormal mouth morphology", - "mouth", - "abnormal mandible morphology", - "abnormal head bone morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "Abnormality of body height", - "tube", - "Abnormality of the genital system", - "intramembranous bone", - "structure with developmental contribution from neural crest", - "bone of craniocervical region", - "anatomical entity hypoplasia in face", - "mandible", - "immune system", - "facial bone", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "jaw skeleton", - "dermal bone", - "negative regulation of biological process", - "digestive tract", - "aplasia or hypoplasia of manual digit 1", - "dermal skeleton", - "abnormal digestive system", - "abnormal ear", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "Short finger", - "Short digit", - "anterior region of body", - "decreased length of manual digit 1", - "Abnormal nasal tip morphology", - "aplastic anatomical entity", - "Bulbous nose", - "Abnormal external nose morphology", - "entire sense organ system", - "abnormal external nose morphology", - "nose", - "immaterial anatomical entity", - "Abnormality of the nose", - "Aplasia/Hypoplasia of the mandible", - "abnormally decreased number of myeloid cell", - "abnormal nose", - "abnormally increased volume of anatomical entity", - "nose tip", - "anatomical point", - "olfactory organ", - "abnormal erythrocyte morphology", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "trunk", - "abnormal bone marrow cell", - "abnormal shape of continuant", - "excretory system", + "negative regulation of cellular biosynthetic process", "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "3-D shape anatomical entity", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "manual digit 1 plus metapodial segment", - "abdomen", - "biological regulation", - "abdominal segment of trunk", - "abdominal segment element", - "Abnormality of the kidney", - "Horseshoe kidney", - "developmental process", - "negative regulation of metabolic process", - "manual digit 1 or 5", - "shape kidney", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "vasculature", "abnormal renal system", - "changed developmental process rate", - "abnormal genitourinary system", - "Abnormality of the male genitalia", + "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", + "Abnormal renal morphology", + "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", - "Abnormality of blood and blood-forming tissues", - "decreased length of digit", "upper urinary tract", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", - "concave 3-D shape anatomical entity", + "aplastic carpal bone", "abnormal renal system morphology", - "abnormal chromatin organization", - "chromatin organization", - "negative regulation of cellular biosynthetic process", - "pectoral appendage", - "regulation of gene expression", - "cellular component organization" + "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", + "primary circulatory organ", + "autopodial skeleton", + "abnormal skeletal joint morphology in the pectoral complex", + "digitopodium region", + "acropodium region", + "Finger aplasia", + "Abnormal proximal phalanx morphology of the hand", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system", + "abnormal musculature", + "abnormal forebrain morphology", + "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", + "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 head", + "abnormal limb morphology", + "anatomical conduit", + "abnormal skeletal joint morphology in the independent continuant", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "Short long bone", + "abnormal skull morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "abnormal biological_process", + "kidney", + "Growth delay", + "lateral structure", + "vessel", + "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", + "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 size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "absent carpal bone in the limb", + "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" ], - "has_phenotype_count": 20, + "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0014986", + "id": "MONDO:0054748", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", + "name": "Fanconi anemia, complementation group S", "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": null, + "xref": ["GARD:16264", "OMIM:617883"], "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" + "FANCS", + "Fanconi anemia, complementation GROUP S", + "Fanconi anemia, complementation group S" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ + "HP:0040012", + "HP:0100615", + "HP:0000430", + "HP:0000750", "HP:0001249", - "HP:0009777", - "HP:0000238", - "HP:0006433", - "HP:0002650", - "HP:0002023", "HP:0000252", - "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", + "HP:0000582", + "HP:0000316", + "HP:0000581", + "HP:0000527", "HP:0000568", - "HP:0007099", + "HP:0000689", + "HP:0000426", + "HP:0000294", + "HP:0001263", + "HP:0003002", + "HP:0025318", + "HP:0000215", + "HP:0030084", "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0003764" + "HP:0001508", + "HP:0008070", + "HP:0000280", + "HP:0001251", + "HP:0004322", + "HP:0000463", + "HP:0000189", + "HP:0001572", + "HP:0000286", + "HP:0009623" ], "has_phenotype_label": [ + "Chromosome breakage", + "Ovarian neoplasm", + "Underdeveloped nasal alae", + "Delayed speech and language development", "Intellectual disability", - "Absent thumb", - "Hydrocephalus", - "Radial dysplasia", - "Scoliosis", - "Anal atresia", "Microcephaly", - "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", + "Upslanted palpebral fissure", + "Hypertelorism", + "Blepharophimosis", + "Long eyelashes", "Microphthalmia", - "Chiari type I malformation", + "Dental malocclusion", + "Prominent nasal bridge", + "Low anterior hairline", + "Global developmental delay", + "Breast carcinoma", + "Ovarian carcinoma", + "Thick upper lip vermilion", + "Clinodactyly", "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Nevus" + "Failure to thrive", + "Sparse hair", + "Coarse facial features", + "Ataxia", + "Short stature", + "Anteverted nares", + "Narrow palate", + "Macrodontia", + "Epicanthus", + "Proximal placement of thumb" ], "has_phenotype_closure": [ - "HP:0001574", - "HP:0011121", - "UBERON:0002416", - "UPHENO:0002635", - "UBERON:0005174", - "HP:0002144", - "UBERON:0002240", - "HP:0012758", - "HP:0001270", - "HP:0002194", - "GO:0009890", - "GO:0031324", - "GO:0071824", - "UPHENO:0050021", - "GO:0010629", - "GO:0031049", - "GO:0060255", - "GO:0009889", - "GO:0048523", - "GO:0043933", - "UPHENO:0050116", - "GO:0006996", - "HP:0001939", - "HP:0003221", - "UPHENO:0049990", - "UPHENO:0050121", - "GO:0005623", - "UPHENO:0049748", - "GO:0010468", - "GO:0031327", - "GO:0006325", - "GO:0050794", - "GO:0019222", - "GO:0006139", 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- "UBERON:5002544", - "UBERON:0000465", - "UBERON:0001130", - "UBERON:0005881", - "HP:0003330", - "HP:0040012", - "UPHENO:0071344", - "UBERON:0000467", - "UPHENO:0081466", - "UBERON:0004765", - "UPHENO:0085144", - "UBERON:0004288", - "GO:0010558", - "UBERON:0008785", - "UBERON:0012139", - "UPHENO:0084448", - "UBERON:0004710", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", + "UBERON:0000991", + "UPHENO:0003020", + "UBERON:0002553", + "HP:0000478", "UBERON:5001463", - "HP:0000163", - "UPHENO:0002433", - "UBERON:0003947", - "NCBITaxon:2759", - "UBERON:0002389", - "UBERON:0001895", - "UPHENO:0002826", - "UBERON:0010740", - "UBERON:0004121", - "UBERON:0015203", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0011355", - "UBERON:0001359", - "UPHENO:0087006", - "UPHENO:0088047", - "UBERON:0000064", - "UPHENO:0056212", - "UPHENO:0078606", - "HP:0002664", - "UBERON:0004733", - "UPHENO:0056333", - "HP:0012443", - "UPHENO:0035147", - "UBERON:0005282", - "HP:0000929", - "UBERON:0000073", + "UPHENO:0021474", + "GO:0031326", + "UPHENO:0065599", + "UBERON:0010222", + "UPHENO:0049367", + "UPHENO:0075198", + "UPHENO:0072394", + "UPHENO:0080200", + "HP:0009924", + "HP:0200007", + "HP:0045025", + "UPHENO:0020950", + "HP:0000581", "RO:0002577", - "UBERON:0000955", - "UBERON:0005281", - "GO:0016043", - "HP:0002011", - "UBERON:0000047", - "HP:0025461", - "UPHENO:0076805", - "GO:0031323", - "HP:0000079", - "UBERON:0002513", - "UBERON:0011138", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "UBERON:0002028", - "BFO:0000002", - "HP:0012639", - "UPHENO:0047299", - "UBERON:0004086", - "UPHENO:0076702", - "HP:0031938", - "UBERON:0000463", - "UBERON:0000161", - "HP:0025031", + "HP:0000951", + "UBERON:0000014", + "UPHENO:0054567", + "HP:0012745", + "UPHENO:0046753", + "UPHENO:0046505", + "HP:0012471", + "UBERON:0007375", + "UBERON:0013703", + "UPHENO:0087435", + "UPHENO:0076692", + "HP:0011138", + "HP:0001574", + "UBERON:0002416", + "UBERON:0011932", + "UBERON:0001003", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0002768", + "UPHENO:0087481", + "HP:0001595", + "UPHENO:0086475", + "GO:0050789", + "HP:0000765", + "UBERON:0012139", + "OBI:0100026", + "UPHENO:0001072", + "HP:0000499", + "HP:0011121", "UBERON:0002104", - "HP:0002118", - "UPHENO:0081451", - "UPHENO:0087349", - "UBERON:0002386", - "UBERON:0015021", - "GO:0009987", - "UBERON:0010703", - "UPHENO:0086956", - "UPHENO:0079872", - "UPHENO:0002751", + "UPHENO:0076771", + "CL:0000000", + "HP:0003002", + "HP:0008056", + "UPHENO:0080209", "BFO:0000020", - "UBERON:0001555", - "UBERON:0006048", - "UPHENO:0087510", - "UPHENO:0080114", - "UBERON:0015001", - "UBERON:0004381", - "UBERON:0008962", - "HP:0004378", - "HP:0031936", - "GO:0048519", - "HP:0011314", - "UPHENO:0086644", - "UBERON:0004456", - "UBERON:0001423", - "UPHENO:0087924", - "UPHENO:0001002", - "UBERON:0003460", - "UBERON:0010741", - "UBERON:0003466", - "UPHENO:0076718", - "HP:0000925", - "GO:0031326", - "UBERON:0002090", - "UPHENO:0002813", - "HP:0006433", + "UPHENO:0081566", + "UBERON:0012354", + "HP:0009623", + "HP:0005105", + "UPHENO:0075219", + "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", + "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:0000033", + "UPHENO:0082938", + "UPHENO:0086700", + "UBERON:0001833", + "UBERON:0001834", + "UBERON:0001016", + "UPHENO:0020955", + "HP:0000177", + "UPHENO:0002915", + "HP:0040064", "UPHENO:0022529", - "HP:0009121", - "HP:0011793", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "HP:0025033", - "UBERON:0001245", - "HP:0006483", - "UBERON:0010912", - "UPHENO:0063565" + "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" ], "has_phenotype_closure_label": [ - "Abnormality of the skin", - "abnormal skin of body morphology", - "skin of body", - "integument", - "integumental system", - "Nevus", - "Abnormal spinal cord morphology", - "spinal cord", - "Abnormal conus terminalis morphology", - "dorsum", - "abnormal primary metabolic process", - "negative regulation of biosynthetic process", - "abnormal organelle organization", - "programmed DNA elimination", - "negative regulation of metabolic process", - "negative regulation of cellular process", - "nucleic acid metabolic process", - "protein-containing complex organization", - "regulation of biological process", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "cellular component organization or biogenesis", - "abnormal cellular component organization", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "metabolic process", - "abnormal cellular process", - "regulation of cellular process", - "negative regulation of biological process", - "organelle organization", - "obsolete cellular nitrogen compound metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal erythroid lineage cell morphology", - "Abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "abnormal spinal cord morphology", - "Abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "oxygen accumulating cell", - "hematopoietic cell", - "abnormally formed anatomical entity", - "segmental subdivision of nervous system", - "hindbrain", - "Abnormal metencephalon morphology", - "Cerebellar malformation", - "Motor delay", - "regulation of macromolecule biosynthetic process", - "abnormal size of eyeball of camera-type eye", - "abnormal face morphology", - "cellular metabolic process", - "simple eye", - "abnormal integument", - "eyeball of camera-type eye", - "decreased size of the anatomical entity in the independent continuant", - "orbital region", - "Abnormality of the orbital region", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "Anemia", - "camera-type eye", - "abnormal bone marrow cell", - "Abnormality of blood and blood-forming tissues", - "abnormal cell", - "immune system", - "disconnected anatomical group", - "abnormal immune system", - "non-connected functional system", - "Abnormal cellular phenotype", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "hemolymphoid system", - "Abnormality of the immune system", - "abnormal hematopoietic system", - "abnormal renal system morphology", - "abnormal anatomical entity topology in independent continuant", - "abnormal genitourinary system", - "abnormally localised anatomical entity", - "Ectopic kidney", - "abnormal renal system", - "negative regulation of cellular metabolic process", - "abnormal bone marrow cell morphology", - "abdomen element", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "abnormally localised anatomical entity in independent continuant", - "negative regulation of macromolecule metabolic process", - "abnormal nitrogen compound metabolic process", - "abdominal segment element", - "abdominal segment of trunk", - "abdomen", - "Abnormality of the upper urinary tract", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormal number of permanent teeth", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Abnormality of the face", - "Agenesis of permanent teeth", - "abnormally decreased number of anatomical entity", - "anatomical cavity", - "abnormally decreased number of calcareous tooth", - "cellular component organization", - "abnormal number of anatomical enitites of type calcareous tooth", - "secondary dentition", - "abnormal mouth morphology", + "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", - "dentition", - "subdivision of tube", - "Abnormal oral morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the dentition", - "Abnormal number of teeth", - "myeloid cell", - "aplastic secondary dentition", - "abnormally decreased number of anatomical entity in the independent continuant", - "growth", - "subdivision of digestive tract", + "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", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Short stature", "delayed biological_process", - "Growth delay", - "abnormal biological_process", - "programmed DNA elimination by chromosome breakage", - "abnormal orbital region", - "Abnormal localization of kidney", - "face", - "Growth abnormality", "delayed growth", - "abnormal size of anatomical entity", - "Decreased head circumference", - "cranial skeletal system", - "Abnormality of the genitourinary system", - "forebrain", - "abnormal forebrain morphology", - "Eukaryota", + "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", - "abnormal skull morphology", - "Abnormality of the mouth", - "abnormal size of skull", - "abnormal telencephalon morphology", - "dorsal region element", + "postcranial axial skeleton", + "cellular organisms", + "thoracic segment of trunk", + "abnormal digit", + "decreased size of the multicellular organism", "Abnormality of skull size", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "tooth-like structure", - "Abnormality of head or neck", - "body proper", - "regional part of brain", - "aplasia or hypoplasia of telencephalon", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal craniocervical region morphology", - "kidney", - "regional part of nervous system", - "visual system", - "abnormal anatomical entity morphology in the brain", - "Abnormal skull morphology", - "abnormal kidney morphology", - "main body axis", - "subdivision of organism along main body axis", + "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", - "Abnormality of the musculoskeletal system", - "cellular organisms", - "abnormal digit", - "bodily fluid", - "aplasia or hypoplasia of anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "anatomical entity", - "Aplasia/hypoplasia involving bones of the upper limbs", - "bone marrow cell", - "system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of limbs", - "regulation of cellular metabolic process", - "regulation of metabolic process", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "brain", - "abnormal anatomical entity morphology in the independent continuant", - "limb segment", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "limb endochondral element", - "genitourinary system", - "forelimb skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "limb bone", - "Abnormal finger morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal appendicular skeleton morphology", - "multi-limb segment region", - "endochondral element", - "digit", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Tethered cord", - "excretory system", - "Abnormal curvature of the vertebral column", - "negative regulation of macromolecule biosynthetic process", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal cerebellum morphology", - "digit 1 plus metapodial segment", - "head", - "Abnormality of limb bone", - "Neurodevelopmental delay", - "pectoral appendage", - "absent anatomical entity", - "brain ventricle", - "aplastic manual digit 1", - "abnormal growth", - "independent continuant", - "organic cyclic compound metabolic process", - "segment of autopod", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebrospinal fluid morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "skeletal system", "root", "appendage", - "tube", - "abnormal manual digit 1 morphology", - "organ subunit", - "Cognitive impairment", - "anatomical space", - "paired limb/fin", - "digestive system", - "upper limb segment", - "appendicular skeleton", - "abnormal anatomical entity morphology in the manus", - "manual digitopodium region", - "abnormal forelimb morphology", + "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", - "abnormal hematopoietic system morphology", + "Deviation of the thumb", "abnormal dentition", - "Abnormal nervous system physiology", - "subdivision of trunk", - "absent manual digit", - "abnormal phenotype by ontology source", - "cerebrospinal fluid", - "Abnormal cell morphology", - "phenotype", - "nucleobase-containing compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", + "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", + "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", + "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", - "abnormal upper urinary tract", "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", + "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", + "process", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "eyelid", + "eye", + "scalp", "musculoskeletal system", - "digitopodium region", - "Aplasia/Hypoplasia of fingers", - "Abnormal eye morphology", - "manual digit", - "Abnormal morphology of the radius", - "Neurodevelopmental abnormality", - "subdivision of organism along appendicular axis", - "Abnormality of mental function", - "organic substance metabolic process", - "Abnormal cellular physiology", - "Pelvic kidney", + "abnormal cellular metabolic process", + "Coarse facial features", + "material anatomical entity", "abnormality of nervous system physiology", - "skeleton of manus", + "internal female genitalia", + "Abnormal cellular physiology", + "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", + "Eukaryota", + "negative regulation of cellular metabolic process", + "abnormal ala of nose morphology", + "Blepharophimosis", + "Intellectual disability", + "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", + "forebrain", + "Abnormal nasal morphology", + "negative regulation of macromolecule biosynthetic process", "lateral structure", - "digestive tract", - "process", - "hematopoietic system", + "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", + "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", + "regulation of macromolecule biosynthetic process", "multicellular organism", - "absent anatomical entity in the multicellular organism", - "agenesis of anatomical entity", - "abnormal face", + "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", + "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", - "Bone marrow hypocellularity", - "skeletal element", - "zeugopod", - "negative regulation of gene expression", - "Phenotypic abnormality", - "Abnormality of the hand", - "Abnormal appendicular skeleton morphology", - "Delayed ability to walk", + "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", + "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", - "abnormal cerebellum morphology", - "skeleton", - "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", + "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", + "face", + "abnormal orbital region", + "Abnormal eyelash morphology", + "axial skeletal system", + "Growth abnormality", + "upper lip", "nervous system", - "abnormal limb bone morphology", - "cellular process", - "Abnormal digit morphology", - "decreased size of the anatomical entity", - "cognition", - "ventricular system of brain", - "anatomical structure", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "organism", - "autopod region", - "biological_process", - "Finger aplasia", - "entire sense organ system", - "continuant", - "manual digit 1 plus metapodial segment", - "obsolete cellular aromatic compound metabolic process", - "multicellular organismal process", - "abnormal skeletal system morphology", - "protein-containing material entity", + "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", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "organelle organization", + "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", - "segment of manus", + "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", "organ part", - "forelimb endochondral element", - "multicellular anatomical structure", - "Scoliosis", - "forelimb zeugopod", - "abnormal nervous system", - "manual digit 1 or 5", - "Neoplasm", - "upper urinary tract", - "Anal atresia", - "digit plus metapodial segment", + "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", - "material anatomical entity", - "segmental subdivision of hindbrain", - "brain ventricle/choroid plexus", - "anatomical system", - "quality", - "abnormal manus morphology", - "pectoral appendage skeleton", - "manual digit plus metapodial segment", - "abnormal limb long bone morphology", - "radius endochondral element", + "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", + "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", - "biological regulation", - "Abnormality of globe size", - "Intellectual disability", + "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", + "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", + "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", - "bone marrow", + "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", - "Aplasia/hypoplasia of the extremities", - "forelimb", - "Abnormal skeletal morphology", - "aplasia or hypoplasia of manual digit", - "digit 1", - "obsolete heterocycle metabolic process", - "erythroid lineage cell", - "Abnormal axial skeleton morphology", - "postcranial axial skeleton", - "bone of free limb or fin", - "abnormal autopod region morphology", - "Absent thumb", - "anterior region of body", - "aplastic anatomical entity", - "autopodial skeleton", - "bone element", - "sense organ", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal immune system morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "manual digit 1", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "organism subdivision", - "occurrent", - "organ", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "bone of pectoral complex", - "entity", - "subdivision of skeletal system", - "Delayed gross motor development", - "subdivision of skeleton", - "endochondral bone", - "abnormally increased number of anatomical entity in the independent continuant", "abnormal head", + "decreased width of the anatomical entity in independent continuant", + "integumentary adnexa", + "jaw region", "arm", - "Abnormal myeloid cell morphology", - "digit 1 or 5", - "bone cell", - "Aplasia/Hypoplasia of the thumb", - "regulation of biosynthetic process", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "cell", - "limb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "trunk region element", - "pectoral complex", - "eye", - "Opisthokonta", - "paired limb/fin segment", + "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", - "skeleton of pectoral complex", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "abnormal spatial pattern of strand of hair", + "abnormal hairline", + "Narrow palate", + "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", - "abnormal forelimb zeugopod bone", - "abnormal manual digit morphology in the independent continuant", - "manus", - "abnormal limb", - "Abnormality of digestive system morphology", - "Microphthalmia", - "abnormal skeletal system", - "macromolecule metabolic process", - "appendage girdle complex", - "Localized skin lesion", - "immaterial entity", - "Abnormal hand morphology", + "appendicular skeleton", + "anatomical conduit", "abnormal limb morphology", - "forelimb zeugopod skeleton", - "mesoderm-derived structure", - "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", - "Hydrocephalus", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "cavitated compound organ", - "abnormal brain morphology", "bone of appendage girdle complex", - "anatomical wall", - "organ component layer", - "organism substance", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "central nervous system", - "ventricular system of central nervous system", - "abnormal anus", - "Chiari malformation", - "anatomical conduit", - "Abnormality of the head", - "abnormally increased number of anatomical entity", - "Abnormality of the urinary system", - "transudate", - "forelimb bone", - "skull", - "abnormal cerebrospinal fluid morphology", - "abnormal brain ventricle morphology", - "abnormally formed anatomical entity in independent continuant", - "oral cavity", - "dysgenesis of the radius bone", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "craniocervical region", - "abnormal long bone morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Tooth agenesis", - "Abnormal cerebral morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "arm bone", - "ventricle of nervous system", - "axial skeletal system", - "Radial dysplasia", - "Abnormal long bone morphology", - "abnormal radius bone morphology", - "structure with developmental contribution from neural crest", - "ectoderm-derived structure", - "long bone", - "abnormal DNA metabolic process", - "blood cell", - "abnormal manual digit morphology in the manus", - "radius bone", - "forelimb long bone", - "obsolete cell", - "compound organ", - "zeugopodial skeleton", - "limb long bone", - "dysgenesis of the anatomical entity", + "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", - "Abnormality of brain morphology", - "forelimb zeugopod bone", - "metencephalon", - "abnormal digestive system", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "trunk", - "Abnormality of the vertebral column", - "tissue", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal oral cavity morphology", - "telencephalon", - "vertebral column", - "Abnormal bone structure", - "abnormal vertebral column", - "erythrocyte", - "organ system subdivision", - "Abnormality of the anus", - "regulation of macromolecule metabolic process", - "Abnormality of the digestive system", - "anus", - "protein-DNA complex organization", - "Abnormal anus morphology", - "DNA metabolic process", - "orifice", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "immaterial anatomical entity", - "anus atresia", - "sensory system", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Chiari type I malformation", - "Abnormality of the nervous system", - "axial skeleton plus cranial skeleton", - "Metazoa" + "abnormal number of anatomical enitites of type strand of hair", + "decreased qualitatively response to stimulus", + "deviation of anatomical entity", + "Ataxia" ], - "has_phenotype_count": 18, + "has_phenotype_count": 30, "highlight": null, "score": null } diff --git a/frontend/src/pages/metadata.json b/frontend/src/pages/metadata.json index 7139acb3b..302b3a976 100644 --- a/frontend/src/pages/metadata.json +++ b/frontend/src/pages/metadata.json @@ -3,7 +3,7 @@ { "label": "Genes", "icon": "category-gene", - "count": 571067 + "count": 571073 }, { "label": "Phenotypes", @@ -18,7 +18,7 @@ { "label": "Total Nodes", "icon": "node", - "count": 1011016 + "count": 1011022 } ], "association": [ @@ -26,24 +26,24 @@ "label": "Gene to Disease", "icon": "category-gene", "icon2": "category-disease", - "count": 15288 + "count": 15286 }, { "label": "Gene to Phenotype", "icon": "category-gene", "icon2": "category-phenotypic-quality", - "count": 938065 + "count": 939144 }, { "label": "Disease to Phenotype", "icon": "category-disease", "icon2": "category-phenotypic-quality", - "count": 249143 + "count": 249391 }, { "label": "Total Associations", "icon": "association", - "count": 11196392 + "count": 11076689 } ] } diff --git a/scripts/generate_fixtures.py b/scripts/generate_fixtures.py index 6ea305cf4..403d032a5 100644 --- a/scripts/generate_fixtures.py +++ b/scripts/generate_fixtures.py @@ -12,7 +12,7 @@ from monarch_py.api.additional_models import ( SemsimSearchGroup, SemsimMultiCompareObject, - SemsimMultiCompareRequest, + SemsimMultiCompareRequest, SemsimDirectionality, ) from monarch_py.datamodels.category_enums import ( AssociationCategory, @@ -289,6 +289,7 @@ def main( fixtures["phenotype-explorer-search"] = _search( termset="HP:0002104,HP:0012378,HP:0012378,HP:0012378", group=SemsimSearchGroup.ZFIN, + directionality=SemsimDirectionality.BIDIRECTIONAL, limit=10, ) fixtures["search"] = si.search(q="fanconi")