From accf78351d329d2a6ee13cd77b2f09160adee024 Mon Sep 17 00:00:00 2001 From: Kevin Schaper Date: Fri, 19 Apr 2024 09:27:11 -0700 Subject: [PATCH] Boost selected results on empty searches (#642) Right now we get results returned in an order that is largely a side effect of ingest order when an empty search happens automatically in the UI. This PR will catch searches for `*:*` and selectively boost a set of diseases, genes, phenotypes and uberon terms. --- .../implementations/solr/solr_query_utils.py | 32 +- .../fixtures/association_counts_response.py | 2 +- .../tests/fixtures/association_response.py | 2 +- backend/tests/fixtures/autocomplete.py | 7940 ++++++-------- backend/tests/fixtures/autocomplete_query.py | 2 +- .../tests/fixtures/autocomplete_response.py | 7917 ++++++-------- backend/tests/fixtures/histopheno_response.py | 2 +- backend/tests/fixtures/search.py | 9662 +++++++++++++++- backend/tests/fixtures/search_query.py | 2 +- backend/tests/fixtures/search_response.py | 9336 +++++++++++++++- .../integration/test_solr_autocomplete.py | 7 +- backend/tests/integration/test_solr_search.py | 24 + backend/tests/unit/test_solr_entity_utils.py | 11 + .../tests/unit/test_solr_implementation.py | 2 +- backend/tests/unit/test_solr_queries.py | 10 +- frontend/fixtures/autocomplete.json | 7952 ++++++-------- .../fixtures/phenotype-explorer-compare.json | 8 +- .../phenotype-explorer-multi-compare.json | 352 +- .../fixtures/phenotype-explorer-search.json | 84 +- frontend/fixtures/search.json | 9703 ++++++++++++++++- 20 files changed, 37642 insertions(+), 15408 deletions(-) diff --git a/backend/src/monarch_py/implementations/solr/solr_query_utils.py b/backend/src/monarch_py/implementations/solr/solr_query_utils.py index 9e89f1125..36ee1852c 100644 --- a/backend/src/monarch_py/implementations/solr/solr_query_utils.py +++ b/backend/src/monarch_py/implementations/solr/solr_query_utils.py @@ -159,7 +159,7 @@ def build_search_query( query.q = q query.def_type = "edismax" query.query_fields = entity_query_fields() - query.boost = entity_boost() + query.boost = entity_boost(empty_search=(q == "*:*")) if category: query.add_filter_query(" OR ".join(f'category:"{cat}"' for cat in category)) if in_taxon_label: @@ -185,7 +185,7 @@ def build_autocomplete_query( # match the query fields to start with query.query_fields = entity_query_fields() query.def_type = "edismax" - query.boost = entity_boost(prioritized_predicates=prioritized_predicates) + query.boost = entity_boost(prioritized_predicates=prioritized_predicates, empty_search=(q == "*:*")) return query @@ -231,15 +231,17 @@ def obsolete_unboost(multiplier=0.1): return f'if(termfreq(deprecated,"true"),{multiplier},1)' -def entity_boost(prioritized_predicates: List[AssociationPredicate] = None) -> str: +def entity_boost(prioritized_predicates: List[AssociationPredicate] = None, empty_search: bool = False) -> str: """Shared boost function between search and autocomplete""" phenotype_boost = category_boost("biolink:PhenotypicFeature", 1.1) - disease_boost = category_boost("biolink:PhenotypicFeature", 1.3) + disease_boost = category_boost("biolink:Disease", 1.3) human_gene_boost = category_boost("biolink:Gene", 1.1, taxon="NCBITaxon:9606") boosts = [phenotype_boost, disease_boost, human_gene_boost, obsolete_unboost()] if prioritized_predicates: boosts.append(entity_predicate_boost(prioritized_predicates, 2.0)) + if empty_search: + boosts.append(blank_search_boost()) return f"product({','.join(boosts)})" @@ -259,6 +261,28 @@ def category_boost(category: str, multiplier: float, taxon: Optional[str] = None return f'if(termfreq(category,"{category}"),{multiplier},1)' +def blank_search_boost() -> str: + """ + Boost specific nodes that we'd like to see as site examples to the top for empty searches + """ + example_nodes = [ + "MONDO:0007523", # Ehlers-Danlos syndrome, hypermobility type + "MONDO:0019391", # Fanconi anemia + "MONDO:0018954", # Loeys-Dietz syndrome + "MONDO:0011518", # Wiedemann-Steiner syndrome + "HP:0001166", # Arachnodactyly + "HP:0001631", # Atrial septal defect + "UBERON:0000948", # heart + "UBERON:0006585", # vestibular organ + "HGNC:4851", # HTT + "HGNC:3603", # FBN1 + ] + # boost score by 1.5 + i/10 for these nodes + boosts = [f'if(termfreq(id,"{node}"),{len(example_nodes) - i + 2},1)' for i, node in enumerate(example_nodes)] + boost = ",".join(boosts) + return f"product({boost})" + + def entity_query_fields(): """ Shared query field list between search and autocomplete, diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py index 6039b2970..fe99032cf 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": 3, + "QTime": 1, "params": { "facet.query": [ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py index 544686afc..ce4e668a8 100644 --- a/backend/tests/fixtures/association_response.py +++ b/backend/tests/fixtures/association_response.py @@ -5,7 +5,7 @@ def association_response(): return { "responseHeader": { - "QTime": 2, + "QTime": 0, "params": { "mm": "100%", "q": "*:*", diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py index cc17a01f7..f6a4b85d4 100644 --- a/backend/tests/fixtures/autocomplete.py +++ b/backend/tests/fixtures/autocomplete.py @@ -8,30 +8,6 @@ def autocomplete(): "offset": 0, "total": 218, "items": [ - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": None, - "deprecated": None, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], - "uri": None, - "iri": None, - "namespace": "HP", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, { "id": "MONDO:0009215", "category": "biolink:Disease", @@ -5467,5046 +5443,3420 @@ def autocomplete(): "score": None, }, { - "id": "HGNC:26144", - "category": "biolink:Gene", - "name": "PALB2", - "full_name": "partner and localizer of BRCA2", + "id": "MONDO:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "full_name": None, "deprecated": None, - "description": None, - "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], - "provided_by": "hgnc_gene_nodes", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": "Homo sapiens", - "symbol": "PALB2", - "synonym": ["FLJ21816", "FANCN", "Fanconi anemia, complementation group N"], + "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": "HGNC", + "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", - "HP:0000582", - "HP:0000470", - "HP:0000483", - "HP:0000377", - "HP:0000238", + "HP:0040012", "HP:0009777", - "HP:0100615", - "HP:0010469", - "HP:0002017", - "HP:0002575", - "HP:0001249", - "HP:0001882", - "HP:0000508", - "HP:0001824", - "HP:0001824", - "HP:0000518", - "HP:0030406", - "HP:0000453", - "HP:0012432", - "HP:0005344", - "HP:0007874", - "HP:0002861", - "HP:0002861", - "HP:0000252", - "HP:0000252", - "HP:0008053", - "HP:0000952", - "HP:0000957", - "HP:0040071", - "HP:0100026", - "HP:0004396", - "HP:0012639", - "HP:0100587", - "HP:0002023", + "HP:0001627", "HP:0002023", - "HP:0001433", - "HP:0002650", - "HP:0002667", - "HP:0000047", - "HP:0001738", "HP:0002984", - "HP:0000316", - "HP:0000316", - "HP:0002910", - "HP:0002863", - "HP:0000864", - "HP:0004808", - "HP:0002254", - "HP:0002119", - "HP:0000027", - "HP:0001392", - "HP:0001562", - "HP:0001510", - "HP:0001873", - "HP:0001871", - "HP:0000568", - "HP:0000568", - "HP:0000504", - "HP:0000505", - "HP:0000520", - "HP:0006725", - "HP:0001760", - "HP:0001763", - "HP:0001770", - "HP:0000492", - "HP:0000478", - "HP:0000486", - "HP:0001631", - "HP:0001631", - "HP:0001636", - "HP:0001639", - "HP:0001629", - "HP:0000324", - "HP:0001643", - "HP:0001646", - "HP:0000347", - "HP:0001679", - "HP:0000340", - "HP:0001671", - "HP:0012334", - "HP:0000364", - "HP:0000365", - "HP:0005249", - "HP:0011027", - "HP:0006501", - "HP:0001511", - "HP:0001518", - "HP:0001537", - "HP:0002885", - "HP:0002894", - "HP:0000218", - "HP:0012210", - "HP:0002896", - "HP:0002823", - "HP:0002827", - "HP:0002817", - "HP:0000268", - "HP:0000286", - "HP:0000286", - "HP:0000953", - "HP:0003221", - "HP:0003220", - "HP:0010293", - "HP:0000813", - "HP:0000819", - "HP:0012745", - "HP:0004349", - "HP:0003022", - "HP:0003006", - "HP:0004389", - "HP:0003003", - "HP:0003002", - "HP:0003002", - "HP:0003002", - "HP:0004322", - "HP:0001915", - "HP:0001903", - "HP:0000639", - "HP:0006824", - "HP:0005522", - "HP:0004209", - "HP:0009778", - "HP:0001000", - "HP:0001053", - "HP:0100760", - "HP:0002251", - "HP:0003577", - "HP:0002245", - "HP:0003418", - "HP:0100592", - "HP:0002039", - "HP:0100542", - "HP:0002007", - "HP:0002027", - "HP:0002716", - "HP:0000125", - "HP:0000130", - "HP:0000122", - "HP:0006265", - "HP:0000135", - "HP:0012125", - "HP:0000175", - "HP:0000006", - "HP:0000007", - "HP:0000010", - "HP:0002664", - "HP:0008897", - "HP:0007565", + "HP:0000126", "HP:0000028", - "HP:0000035", - "HP:0001347", - "HP:0025318", - "HP:0012041", - "HP:0000072", - "HP:0000079", - "HP:0000085", - "HP:0000083", - "HP:0008678", - "HP:0100867", - "HP:0007400", - "HP:0006101", - "HP:0001263", - "HP:0002414", - "HP:0001199", - "HP:0001172", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0001245", + "HP:0003774", + "HP:0025023", ], "has_phenotype_label": [ - "Ectopic kidney", - "Upslanted palpebral fissure", - "Short neck", - "Astigmatism", - "Abnormal pinna morphology", - "Hydrocephalus", + "Chromosome breakage", "Absent thumb", - "Ovarian neoplasm", - "Absent testis", - "Nausea and vomiting", - "Tracheoesophageal fistula", - "Intellectual disability", - "Leukopenia", - "Ptosis", - "Weight loss", - "Weight loss", - "Cataract", - "Primary peritoneal carcinoma", - "Choanal atresia", - "Chronic fatigue", - "Abnormal carotid artery morphology", - "Almond-shaped palpebral fissure", - "Melanoma", - "Melanoma", - "Microcephaly", - "Microcephaly", - "Aplasia/Hypoplasia of the iris", - "Jaundice", - "Cafe-au-lait spot", - "Abnormal morphology of ulna", - "Arteriovenous malformation", - "Poor appetite", - "Abnormal nervous system morphology", - "Abnormal preputium morphology", - "Anal atresia", + "Abnormal heart morphology", "Anal atresia", - "Hepatosplenomegaly", - "Scoliosis", - "Nephroblastoma", - "Hypospadias", - "Exocrine pancreatic insufficiency", "Hypoplasia of the radius", - "Hypertelorism", - "Hypertelorism", - "Elevated hepatic transaminase", - "Myelodysplasia", - "Abnormality of the hypothalamus-pituitary axis", - "Acute myeloid leukemia", - "Intermittent diarrhea", - "Ventriculomegaly", - "Azoospermia", - "Abnormality of the liver", - "Oligohydramnios", - "Growth delay", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Microphthalmia", - "Microphthalmia", - "Abnormality of vision", - "Visual impairment", - "Proptosis", - "Pancreatic adenocarcinoma", - "Abnormal foot morphology", - "Pes planus", - "Toe syndactyly", - "Abnormal eyelid morphology", - "Abnormality of the eye", - "Strabismus", - "Atrial septal defect", - "Atrial septal defect", - "Tetralogy of Fallot", - "Hypertrophic cardiomyopathy", - "Ventricular septal defect", - "Facial asymmetry", - "Patent ductus arteriosus", - "Abnormal aortic valve morphology", - "Micrognathia", - "Abnormal aortic morphology", - "Sloping forehead", - "Abnormal cardiac septum morphology", - "Extrahepatic cholestasis", - "Hearing abnormality", - "Hearing impairment", - "Functional intestinal obstruction", - "Abnormal fallopian tube morphology", - "Aplasia/Hypoplasia of the radius", - "Intrauterine growth retardation", - "Small for gestational age", - "Umbilical hernia", - "Medulloblastoma", - "Neoplasm of the pancreas", - "High palate", - "Abnormal renal morphology", - "Neoplasm of the liver", - "Abnormality of femur morphology", - "Hip dislocation", - "Abnormality of the upper limb", - "Dolichocephaly", - "Epicanthus", - "Epicanthus", - "Hyperpigmentation of the skin", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", - "Aplasia/Hypoplasia of the uvula", - "Bicornuate uterus", - "Diabetes mellitus", - "Short palpebral fissure", - "Reduced bone mineral density", - "Hypoplasia of the ulna", - "Neuroblastoma", - "Intestinal pseudo-obstruction", - "Colon cancer", - "Breast carcinoma", - "Breast carcinoma", - "Breast carcinoma", - "Short stature", - "Aplastic anemia", - "Anemia", - "Nystagmus", - "Cranial nerve paralysis", - "Pyridoxine-responsive sideroblastic anemia", - "Clinodactyly of the 5th finger", - "Short thumb", - "Abnormality of skin pigmentation", - "Hypopigmented skin patches", - "Clubbing of toes", - "Aganglionic megacolon", - "Congenital onset", - "Meckel diverticulum", - "Back pain", - "Peritoneal abscess", - "Anorexia", - "Abnormal localization of kidney", - "Frontal bossing", - "Abdominal pain", - "Lymphadenopathy", - "Pelvic kidney", - "Abnormality of the uterus", - "Unilateral renal agenesis", - "Aplasia/Hypoplasia of fingers", - "Hypogonadism", - "Prostate cancer", - "Cleft palate", - "Autosomal dominant inheritance", - "Autosomal recessive inheritance", - "Recurrent urinary tract infections", - "Neoplasm", - "Postnatal growth retardation", - "Multiple cafe-au-lait spots", + "Hydronephrosis", "Cryptorchidism", - "Abnormal testis morphology", - "Hyperreflexia", - "Ovarian carcinoma", - "Decreased fertility in males", - "Hydroureter", - "Abnormality of the urinary system", - "Horseshoe kidney", - "Renal insufficiency", - "Renal hypoplasia/aplasia", - "Duodenal stenosis", - "Irregular hyperpigmentation", - "Finger syndactyly", - "Global developmental delay", - "Spina bifida", - "Triphalangeal thumb", - "Abnormal thumb morphology", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia", ], "has_phenotype_closure": [ - "HP:0005918", - "UPHENO:0021800", - "HP:0010301", - "UPHENO:0087665", - "UPHENO:0088123", - "UPHENO:0051003", - "UPHENO:0087858", - "HP:0045005", - "HP:0410043", - "UPHENO:0076707", - "HP:0003468", - "HP:0002414", - "UPHENO:0076744", - "UPHENO:0051077", - "HP:0012758", - "UPHENO:0078215", - "UPHENO:0078288", - "UPHENO:0078267", - "HP:0006101", - "HP:0100867", - "HP:0002246", + "HP:0012732", + "HP:0002034", + "UPHENO:0087346", + "UPHENO:0002714", + "UPHENO:0076773", + "UPHENO:0076783", + "HP:0012718", + "UPHENO:0076735", + "HP:0002589", + "UPHENO:0002725", + "HP:0011100", + "HP:0025023", + "UPHENO:0063629", + "HP:0002250", + "HP:0011024", "HP:0012211", - "UPHENO:0086132", + "HP:0011277", + "HP:0003774", "UPHENO:0002411", - "HP:0000083", - "UPHENO:0041465", - "HP:0000085", - "UPHENO:0002806", - "HP:0025633", - "HP:0012041", - "HP:0000144", - "HP:0025318", - "UPHENO:0083263", - "UPHENO:0050079", - "HP:0001347", - "HP:0000028", - "UPHENO:0053644", - "HP:0008897", - "HP:0000010", + "UPHENO:0088142", + "UPHENO:0002655", "UPHENO:0002442", - "UPHENO:0002263", - "HP:0034345", - "HP:5201015", - "UPHENO:0033635", - "HP:0100787", - "UPHENO:0002771", - "UPHENO:0087645", - "HP:0000022", - "HP:0012125", - "HP:0008775", + "UPHENO:0081433", + "UPHENO:0081341", + "HP:0009127", + "HP:0003011", + "UPHENO:0063632", + "HP:0001227", + "HP:0001421", + "UPHENO:0049874", + "UPHENO:0069254", + "UPHENO:0000543", + "HP:0009826", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0087510", "UPHENO:0081313", - "HP:0008062", - "UPHENO:0012274", - "HP:0001872", - "HP:0001738", - "UPHENO:0068971", - "HP:0012092", - "HP:0025668", - "UPHENO:0085873", - "HP:0000795", - "HP:0010936", - "UPHENO:0075774", - "UPHENO:0079828", - "UPHENO:0087530", - "HP:0002650", - "UPHENO:0076722", - "UPHENO:0019492", - "UPHENO:0077855", - "HP:0045060", - "UPHENO:0087974", - "HP:0001010", - "UPHENO:0086735", - "HP:0001629", - "HP:0003271", - "UPHENO:0065599", - "HP:0200005", - "HP:0410042", - "UPHENO:0002700", - "HP:0040068", - "UPHENO:0050622", - "UPHENO:0002819", - "UPHENO:0001005", - "UPHENO:0050620", - "HP:0001743", - "UPHENO:0087349", - "UPHENO:0046538", - "HP:0001744", - "HP:0002667", - "UPHENO:0087022", - "HP:0031071", - "UPHENO:0087910", - "UPHENO:0087376", - "HP:0001881", - "UPHENO:0041212", - "UPHENO:0086797", - "HP:0002023", - "UPHENO:0078606", - "HP:0100592", - "HP:0000036", - "HP:0002624", - "UPHENO:0002642", - "UPHENO:0019766", - "UPHENO:0086792", - "HP:0001551", - "UPHENO:0077874", - "UPHENO:0079872", - "UPHENO:0076695", - "UPHENO:0087585", - "UPHENO:0086956", - "UPHENO:0001177", - "HP:0040071", - "UPHENO:0002712", - "HP:0002973", - "HP:0001172", - "HP:0000025", - "HP:0040072", - "HP:0040070", - "HP:0100006", - "UPHENO:0020868", "UPHENO:0087501", - "UPHENO:0076800", - "UPHENO:0080087", - "UPHENO:0075202", - "UPHENO:0018390", - "HP:0000953", - "UPHENO:0076740", - "HP:0000002", - "UPHENO:0076790", - "UPHENO:0054970", - "UPHENO:0080662", - "HP:0000047", - "UPHENO:0069254", - "HP:0007400", - "HP:0033127", "UPHENO:0086172", - "UPHENO:0080601", - "UPHENO:0074589", - "HP:0001005", - "UPHENO:0081755", - "UPHENO:0075198", - "UPHENO:0041146", - "UPHENO:0002635", - "BFO:0000001", - "HP:0030311", - "UPHENO:0002666", - "HP:0000315", - "HP:0025615", - "HP:0011025", - "HP:0000951", - "HP:0004377", - "UPHENO:0004459", - "HP:0001438", - "HP:0000818", - "UPHENO:0084767", - "UPHENO:0003044", - "HP:0001396", - "HP:0001637", - "HP:0010972", - "HP:0007700", - "UPHENO:0088185", - "UPHENO:0080202", - "HP:0004396", - "UPHENO:0021670", - "UPHENO:0088050", - "UPHENO:0081435", - "UPHENO:0087186", - "HP:0001760", - "HP:0000553", - "UPHENO:0075220", - "UPHENO:0086855", - "UPHENO:0086595", - "HP:0000252", - "HP:0003272", - "HP:0002060", - "HP:0012372", - "HP:0000359", - "HP:0000240", - "UPHENO:0078730", - "UPHENO:0086635", - "HP:0000812", - "UPHENO:0076718", - "UPHENO:0005651", - "HP:0002861", - "UPHENO:0076729", - "UPHENO:0086864", - "UPHENO:0001189", - "UPHENO:0002992", - "HP:0100763", - "HP:0007874", - "UPHENO:0002595", - "UPHENO:0072814", - "UPHENO:0079826", - "UPHENO:0077889", - "HP:0002242", - "HP:0002240", - "UPHENO:0031129", + "HP:0009115", + "UPHENO:0076803", + "HP:0025031", + "HP:0001510", + "UPHENO:0086201", + "HP:0000811", + "UPHENO:0074228", + "UPHENO:0001005", + "UPHENO:0002597", + "HP:0011793", "UPHENO:0076776", - "UPHENO:0076780", - "UPHENO:0077854", - "HP:0004323", - "UPHENO:0081314", - "UPHENO:0002678", - "HP:0025015", - "HP:0006495", - "UPHENO:0087267", - "HP:0040202", - "HP:0001626", - "HP:0025142", - "HP:0002251", - "BFO:0000020", - "HP:0011563", - "HP:0000819", - "UPHENO:0004508", - "UPHENO:0074228", - "UPHENO:0003048", - "UPHENO:0063621", - "HP:0010978", - "UPHENO:0086100", - "HP:0000453", - "UPHENO:0084457", - "UPHENO:0087548", - "UPHENO:0056333", - "HP:0002143", - "UPHENO:0025211", - "HP:0002977", - "HP:0002538", - "UPHENO:0087814", - "HP:0001392", + "HP:0006503", + "UPHENO:0063599", "UPHENO:0063565", - "UPHENO:0084928", - "UPHENO:0063595", - "HP:0012378", - "HP:0011893", - "HP:0010987", - "HP:0030406", - "HP:0000271", - "HP:0000505", - "HP:0000517", - "UPHENO:0001072", - "UPHENO:0088132", - "UPHENO:0084815", - "UPHENO:0041591", - "HP:0003026", - "HP:0001671", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0083593", - "HP:0000518", - "UPHENO:0041462", - "HP:0008055", - "UPHENO:0049874", - "HP:0001824", - "HP:0000238", - "UPHENO:0010763", + "HP:0011017", + "UPHENO:0002839", + "BFO:0000002", + "UPHENO:0053298", + "HP:0004322", "UPHENO:0002833", - "HP:0001507", - "HP:0000366", - "UPHENO:0087397", - "UPHENO:0015282", - "UPHENO:0010795", - 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"UPHENO:0015327", - "UPHENO:0084482", - "HP:0001199", - "UPHENO:0076779", - "UPHENO:0000996", - "HP:0001654", - "HP:0001714", - "HP:0011545", - "HP:0010161", - "UPHENO:0015317", - "UPHENO:0086858", - "HP:0000347", - "UPHENO:0015319", - "UPHENO:0076809", - "UPHENO:0041053", - "HP:0030962", - "UPHENO:0077800", - "HP:0001638", - "UPHENO:0020809", - "UPHENO:0084729", - "UPHENO:0021791", - "HP:5200241", - "UPHENO:0084734", - "UPHENO:0087018", - "UPHENO:0015290", - "UPHENO:0033603", - "UPHENO:0080387", - "HP:0012130", - "HP:0002585", - "UPHENO:0087309", - "HP:0001643", - "HP:0000069", - "UPHENO:0087070", - "UPHENO:0076743", - "UPHENO:0081141", - "UPHENO:0046707", - "UPHENO:0088116", - "HP:0009116", - "HP:0100273", - "HP:0012531", - "HP:0001763", - "UPHENO:0086978", - "HP:0011873", - "UPHENO:0081788", - "HP:0031816", - "HP:0000153", - "HP:0100491", - "HP:0100887", - "UPHENO:0051267", - "HP:0000464", - "HP:0002692", - "UPHENO:0083646", - "UPHENO:0041083", - "HP:0000290", - "UPHENO:0082900", - "UPHENO:0002471", - "UPHENO:0086088", - "UPHENO:0078622", - "UPHENO:0041151", - "UPHENO:0086198", - "UPHENO:0087531", - "UPHENO:0005518", - "UPHENO:0081594", - "UPHENO:0052231", - "HP:0011794", - "UPHENO:0052970", - "HP:0000365", - "HP:0000708", - "HP:0004808", - "HP:0005249", - "UPHENO:0050625", - "HP:0009122", - "UPHENO:0050696", - "HP:0030060", - "HP:0100627", - "UPHENO:0019888", - "UPHENO:0005642", - "UPHENO:0076810", - "UPHENO:0081436", - "UPHENO:0002751", - "HP:0000340", - "UPHENO:0077877", - "HP:0001384", - "UPHENO:0033616", - "HP:0030680", - "UPHENO:0075684", - "HP:0003549", - "HP:0001537", - "HP:0004298", - "UPHENO:0086122", - "UPHENO:0084447", - "HP:0010935", - "HP:0012432", - "HP:0100790", - "HP:0010866", - "HP:0030895", - "UPHENO:0076794", - "HP:0011355", - "HP:0100836", - "HP:0004375", - "HP:0000163", - "HP:0000218", - "UPHENO:0086824", - "UPHENO:0034110", - "UPHENO:0076786", - "HP:0000005", - "HP:0009380", - "UPHENO:0087232", - "HP:0002896", - "UPHENO:0002896", - "HP:0001639", - "UPHENO:0076806", - "HP:0040069", - "UPHENO:0020967", - "UPHENO:0087558", - "UPHENO:0079871", - "UPHENO:0002813", - "HP:0000504", - "UPHENO:0087980", - "UPHENO:0075945", - "HP:0001903", - "UPHENO:0076767", - "UPHENO:0075159", - "HP:0000316", - "UPHENO:0052675", - "UPHENO:0001001", - "UPHENO:0087892", - "HP:0000122", - "HP:0012337", - "UPHENO:0086091", - "HP:0002644", - "HP:0004796", - "UPHENO:0075148", - "HP:0000268", - "HP:0003003", - "UPHENO:0031839", - "HP:0040194", - "UPHENO:0080602", - "UPHENO:0001208", - "HP:0009118", - "HP:0000286", - "UPHENO:0087058", - "HP:0011458", - "UPHENO:0087928", - "HP:0003312", - "UPHENO:0050034", - "UPHENO:0087307", - "HP:0003220", - "UPHENO:0085876", - "UPHENO:0049700", - "UPHENO:0049873", - "UPHENO:0049990", - "HP:0004389", - "HP:0002597", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0020041", - "HP:0011017", - "UPHENO:0041644", - "UPHENO:0087214", - "UPHENO:0081570", - "UPHENO:0088088", - "UPHENO:0021823", - "UPHENO:0075843", - "HP:0000172", - "UPHENO:0076748", - "UPHENO:0041821", - "HP:0100542", - "HP:0000813", - "HP:0000130", - "UPHENO:0086817", - "UPHENO:0041664", - "UPHENO:0041395", - "UPHENO:0080369", - "HP:0011014", - "HP:0001952", - "UPHENO:0069523", - "UPHENO:0076791", - "UPHENO:0033604", - "HP:0001053", - "HP:0012243", - "UPHENO:0081605", - "UPHENO:0049628", - "HP:0100760", - "UPHENO:0087907", - "UPHENO:0046753", - "HP:0012745", - "UPHENO:0063513", - "HP:0002039", - "HP:0002715", - "HP:0004348", - "UPHENO:0082835", - "HP:0004349", - "HP:0011849", - "HP:0003006", - "HP:0007565", - "HP:0030063", - "UPHENO:0001042", - "UPHENO:0049985", - "HP:0030067", - "HP:0004376", - "HP:0000104", - "UPHENO:0076783", - "UPHENO:0042775", - "UPHENO:0077872", - "HP:0100834", - "HP:0005927", - "HP:0008373", - "HP:0002579", - "UPHENO:0076773", - "HP:0004209", - "HP:0003002", - "HP:0011354", - "UPHENO:0077885", - "UPHENO:0087481", - "UPHENO:0054299", - "UPHENO:0054261", - "UPHENO:0003013", - "HP:0000765", - "HP:0001263", - "UPHENO:0005982", - "UPHENO:0002931", - "UPHENO:0081424", - "UPHENO:0080351", - "HP:0012145", - "HP:0001915", - "UPHENO:0003074", - "HP:0001877", - "UPHENO:0088162", - "HP:0011821", - "HP:0012547", - "UPHENO:0050613", - "HP:0011389", - "HP:0007670", - "HP:0031105", - "UPHENO:0078736", "HP:0000035", - "HP:0001751", - "UPHENO:0079837", - "HP:0100022", - "UPHENO:0079833", - "HP:0045010", - "HP:0001642", - "HP:0006501", - "UPHENO:0005116", - "HP:0031910", - "UPHENO:0002708", - "HP:0006824", - "UPHENO:0053298", - "UPHENO:0081709", - "HP:0009484", - "HP:0005522", - "HP:0010786", - "UPHENO:0076736", - "HP:0009179", - "HP:0011446", - "HP:0030084", - "UPHENO:0053580", - "UPHENO:0069293", - "HP:0040019", - "HP:0000377", - "HP:0004097", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "HP:0011927", + "HP:0012622", + "HP:0000078", + "HP:0006496", "HP:0009778", - "HP:0011027", - "UPHENO:0046411", - "UPHENO:0077892", - "UPHENO:0002964", - "UPHENO:0088140", - "UPHENO:0087369", - "HP:0002270", - "UPHENO:0087355", - "HP:0410015", - "HP:0003319", - "HP:0012331", - "UPHENO:0081451", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0087602", - "UPHENO:0087121", - "UPHENO:0005852", - "UPHENO:0087933", - "HP:0000525", - "UPHENO:0088183", - "HP:0001000", - "UPHENO:0021045", - "HP:0003674", + "HP:0009623", + "UPHENO:0050108", + "HP:0000107", + "HP:0001446", + "UPHENO:0084841", + "HP:0009484", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", "UPHENO:0081423", - "HP:0012823", - "UPHENO:0081790", - "HP:0031797", - "UPHENO:0021038", - "UPHENO:0086612", - "UPHENO:0056072", - "UPHENO:0050121", - "HP:0001549", - "UPHENO:0019477", - "HP:0100587", - "UPHENO:0079835", - "UPHENO:0042834", - "UPHENO:0072195", - "UPHENO:0080595", - "UPHENO:0041041", - "UPHENO:0082905", - "UPHENO:0002219", - "HP:0011218", - "UPHENO:0055092", - "UPHENO:0005994", - "UPHENO:0084465", - "HP:0000952", - "HP:0430000", - "HP:0002027", - "HP:0002716", - "UPHENO:0080221", - "UPHENO:0083530", - "HP:0002733", - "UPHENO:0075161", - "HP:0008678", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0000541", ], "has_phenotype_closure_label": [ - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", - "Abnormality of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormal form of the vertebral bodies", - "Neural tube defect", - "abnormal embryonic tissue morphology", - "Abnormal neural tube morphology", - "abnormal vertebra morphology", - "abnormal arch of centrum of vertebra", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "Spina bifida", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal spinal cord morphology", - "Neurodevelopmental delay", - "abnormally fused manual digit and manual digit", - "abnormally fused manual digit and anatomical entity", - "Small intestinal stenosis", - "abnormal duodenum morphology", + "Abnormal intestine morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal rectum", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormality of the gastrointestinal tract", + "Rectal atresia", + "Anorectal anomaly", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "Morphological abnormality of the gastrointestinal tract", + "rectum atresia", + "alimentary part of gastrointestinal system atresia", + "Chronic kidney disease", "Renal insufficiency", - "Abnormal vertebral morphology", - "non-functional anatomical entity", - "Abnormal renal physiology", - "shape kidney", - "Hypoplasia of the radius", - "Functional abnormality of the gastrointestinal tract", - "Recurrent urinary tract infections", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "Short long bone", - "anus atresia", - "abnormal skull morphology", - "abnormal tube formation", - "abnormal palpebral fissure", - "Aplasia/hypoplasia involving forearm bones", - "Short forearm", - "sloped forehead", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "decreased length of long bone", - "curved anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Abnormal ureter morphology", - "abnormality of exocrine pancreas physiology", - "delayed biological_process", - "abnormality of gland physiology", - "Exocrine pancreatic insufficiency", - "abnormal size of brain ventricle", - "Frontal bossing", - "abnormal urethra", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "Renal neoplasm", - "Abnormal prostate morphology", - "Scoliosis", - "abnormal cardiac atrium morphology", - "Abnormal curvature of the vertebral column", - "Hepatosplenomegaly", - "abnormal biological_process in independent continuant", + "Intestinal atresia", "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal liver morphology", - "Abnormal endocrine morphology", - "abnormal leg", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "abnormal hepatobiliary system morphology", - "anatomical entity hypoplasia in face", - "abnormal spleen", - "Abnormal oral cavity morphology", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "abnormality of kidney physiology", + "Small thenar eminence", + "abnormal musculature of limb", + "Abnormality of the musculature of the upper limbs", + "Abnormal palm morphology", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "Abnormality of the musculature of the hand", + "abnormal musculature", + "Abnormality of the thenar eminence", + "Abnormality of the musculature of the limbs", + "bone element hypoplasia in independent continuant", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal long bone morphology", "abnormal radius bone morphology", - "Digestive system neoplasm", - "increased size of the viscus", - "Abnormal abdomen morphology", - "Abnormal myeloid cell morphology", - "abnormal pancreas", - "increased size of the spleen", - "Abnormality of the integument", - "Epicanthus", - "Abnormality of the cardiovascular system", - "abnormal chemical homeostasis", - "abnormal anus", - "Neuroectodermal neoplasm", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "abnormally decreased number of anatomical entity", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "abnormal limb long bone morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", "Abnormal long bone morphology", - "absent sperm in the semen", + "Upper limb undergrowth", + "abnormal renal system", + "Abnormality of the anus", + "abnormally dilated renal pelvis", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormal heart morphology", + "radius bone hypoplasia", + "abnormal spatial pattern of anatomical entity", + "abnormal heart morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", "absent anatomical entity in the limb", - "Abnormal spleen morphology", - "abnormal semi-lunar valve morphology", - "increased biological_process", - "abnormal external ear", - "Prostate cancer", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of globe location", - "Strabismus", - "abnormal prostate gland", - "aplasia or hypoplasia of iris", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "increased pigmentation in independent continuant", - "decreased length of forelimb zeugopod bone", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "Abnormality of the pancreas", - "abnormal biliary system", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "Abnormality of the head", - "Abnormality of the liver", - "abnormal liver", - "Abnormality of the endocrine system", - "Jaundice", - "abnormal endocrine system", - "Ocular anterior segment dysgenesis", - "Aplasia/Hypoplasia affecting the uvea", - "Aplasia/Hypoplasia of the iris", - "flat anatomical entity in independent continuant", - "abnormal mandible morphology", - "abnormal penis", - "herniated anatomical entity", - "abnormal size of spleen", - "increased qualitatively biological_process in independent continuant", - "Abnormal ileum morphology", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormality of the musculature", + "abnormal digit", + "abnormal organelle organization", "Anal atresia", - "abnormally formed anterior chamber of eyeball", - "Abnormal forebrain morphology", - "Hypogonadism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "Decreased head circumference", - "abnormal size of skull", - "abnormal embryo morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal forebrain morphology", - "abnormal shape of cornea", - "abnormal anatomical entity morphology in the brain", - "Neoplasm by histology", - "abnormal shape of palpebral fissure", - "shape digit", - "Clubbing", - "Postnatal growth retardation", - "decreased size of the multicellular organism", - "abnormal vertebral column morphology", - "Abnormality of the inner ear", - "Abnormal systemic arterial morphology", - "abnormal systemic arterial system morphology", - "Short neck", - "Nephroblastoma", - "Aplasia/Hypoplasia involving the central nervous system", - "Mode of inheritance", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "abnormal size of liver", - "abnormal anatomical entity mass density", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "Nausea and vomiting", - "abnormal vascular system morphology", - "Abnormality of the spleen", - "Abnormal blood vessel morphology", - "radius bone hypoplasia", + "Neoplasm", + "Cryptorchidism", + "abnormal manual digit morphology in the independent continuant", + "anatomical entity hypoplasia", + "aplasia or hypoplasia of skeleton", "aplasia or hypoplasia of anatomical entity", - "Abnormality of the vasculature", - "abnormal common carotid artery plus branches morphology", - "abnormal vasculature", - "abnormal genitourinary system", - "Embryonal renal neoplasm", - "Constitutional symptom", - "Absent testis", - "abnormal posterior nasal aperture morphology", - "abnormal cellular metabolic process", - "abnormal ureter morphology", - "Abnormality of the choanae", - "abnormal nose", - "abnormally decreased number of myeloid cell", - "abnormal incomplete closing of the abdominal wall", - "Urinary tract neoplasm", - "Choanal atresia", - "Congenital onset", - "Abnormal skull morphology", - "internal naris atresia", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal olfactory system morphology", - "Clinodactyly", - "Abnormal right ventricle morphology", - "Hypertelorism", - "abnormal integument", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "Primary peritoneal carcinoma", - "Abnormality of movement", - "Neoplasm of the large intestine", - "Neoplasm of the gastrointestinal tract", - "opaque anatomical entity", - "Weight loss", - "Abnormality of body weight", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of the upper limb", + "Abnormality of digestive system morphology", + "abnormal limb", + "anus atresia", + "Dilatation of the renal pelvis", + "Abnormality of the kidney", + "absent anatomical entity in the independent continuant", "Neoplasm by anatomical site", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormality of multicellular organism mass", - "Abnormal pulmonary valve physiology", - "drooping eyelid", - "Abnormality of the female genitalia", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "Abnormal uvea morphology", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "abnormal muscle contraction in independent continuant", - "hypertrophic heart right ventricle", - "abnormally decreased number of cell in the independent continuant", - "Abnormal leukocyte morphology", - "abnormal lower urinary tract", - "decreased qualitatively pigmentation in independent continuant", - "Renal hypoplasia/aplasia", - "Abnormality of blood and blood-forming tissues", + "decreased length of manual digit 1", + "Abnormal anus morphology", + "abnormally localised anatomical entity", + "abnormal appendicular skeleton morphology", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Limb undergrowth", + "agenesis of anatomical entity", + "decreased developmental process", + "All", + "Abnormal upper limb bone morphology", + "intestine atresia", + "Proximal placement of thumb", + "abnormal digit morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "increased size of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "Renal cyst", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormality of renal system physiology", + "quality", + "Abnormal renal pelvis morphology", + "decreased length of long bone", + "Abnormality of prenatal development or birth", + "abnormal spermatogenesis", + "phenotype", + "absent digit", + "abnormal male reproductive system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal thenar eminence", + "abnormal nitrogen compound metabolic process", + "abnormal internal genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal cellular process", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "absent anatomical entity in the multicellular organism", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "aplastic anatomical entity", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal anatomical entity morphology in the palmar part of manus", + "absent manual digit", + "abnormal phenotype by ontology source", + "deviation of manual digit", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal cellular physiology", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal cell", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "abnormal anus", + "Abnormal digit morphology", + "phenotype by ontology source", + "Abnormal thumb morphology", "Abnormality of the male genitalia", - "decreased length of digit", - "abnormal enteric nervous system morphology", - "Leukopenia", - "abnormal leukocyte morphology", - "abnormal cornea, curved", - "Abnormality of the anus", - "abnormal immune system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal incomplete closing of the arch of centrum of vertebra", - "prominent forehead", - "abnormally decreased number of leukocyte", - "Abnormality of the ear", - "abnormal hematopoietic system", - "abnormally decreased number of leukocyte in the blood", - "bone element hypoplasia in independent continuant", - "abnormally decreased number of anatomical entity in the blood", + "deviation of manual digit 1", + "abnormal limb bone morphology", + "abnormal testis morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "absent anatomical entity", + "decreased length of manual digit", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "abnormal cardiovascular system morphology", - "sloped anatomical entity", - "Abnormality of mental function", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Functional abnormality of male internal genitalia", - "Abnormality of the immune system", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "abnormally formed anatomical entity in independent continuant", - "bicornuate anatomical entity", - "Ectopic kidney", - "abnormal respiratory tube morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "Hearing abnormality", - "Tracheoesophageal fistula", - "decreased qualitatively biological_process in independent continuant", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal incomplete closing of the anatomical entity", - "Abnormal heart valve morphology", - "Abnormal esophagus morphology", - "shape anatomical entity", - "abnormal gland morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal respiratory system", - "abnormal size of palpebral fissure", - "Abnormality of the biliary system", - "abnormal digestive system morphology", - "abnormal primary metabolic process", - "abnormal digestive system", - "abnormality of digestive system physiology", - "decreased biological_process in independent continuant", - "increased length of the anatomical line between pupils", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormally increased number of anatomical entity", "abnormality of multicellular organism height", - "abnormal limb morphology", - "Fatigue", - "increased anatomical entity length in independent continuant", - "hypertrophic cardiac ventricle", - "Abnormal male reproductive system physiology", - "increased biological_process in independent continuant", - "asymmetrically curved cornea", - "Morphological central nervous system abnormality", - "Recurrent infections", - "Abnormal anterior eye segment morphology", - "Displacement of the urethral meatus", - "abnormal face", - "abnormal asymmetry of anatomical entity", - "abnormal ear morphology", - "abnormal liver morphology", - "abnormal anatomical entity, asymmetrically curved", - "abnormal multicellular organismal reproductive process", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormality of the upper urinary tract", - "Abnormality of the lower urinary tract", - "Abnormality of the kidney", - "U-shaped anatomical entity", - "abnormal eyeball of camera-type eye", - "Ventricular septal defect", - "abnormal response to stimulus", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Hepatomegaly", - "Abnormal cornea morphology", - "Abnormality of cardiovascular system morphology", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal forearm bone morphology", - "abnormal voluntary movement behavior", - "Abdominal symptom", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "abnormal artery morphology", - "Abnormality of enteric nervous system morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "Clinical modifier", - "abnormal neck morphology", - "Hypermelanotic macule", - "Duodenal stenosis", - "Abnormal foot morphology", - "abnormal organelle organization", - "absent kidney in the renal system", - "abnormal systemic artery morphology", - "abnormal hindlimb joint", - "decreased length of neck", - "shape longitudinal arch of pes", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "abnormal coronary vessel morphology", - "Abnormality of the lymphatic system", - "abnormal anterior uvea morphology", - "Finger aplasia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "forelimb zeugopod bone hypoplasia", + "Abnormality of the hand", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", "abnormal number of anatomical enitites of type anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal uvea morphology", + "increased size of the anatomical entity", + "abnormal limb bone", "absent gamete", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "abnormal nervous system morphology", - "Visceromegaly", - "continuant", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Abnormality of the neck", - "Abnormality of exocrine pancreas physiology", - "abnormality of anatomical entity mass", - "Abnormality of corneal shape", + "Abnormal finger morphology", "Aplasia/hypoplasia involving bones of the upper limbs", - "Ovarian neoplasm", - "Dermatological manifestations of systemic disorders", - "Upslanted palpebral fissure", - "Finger syndactyly", - "abnormal ductus arteriosus morphology", - "Abnormal bone ossification", - "decreased spermatogenesis", - "Abnormal tracheal morphology", - "Abnormal involuntary eye movements", - "abnormal kidney morphology", - "abnormal gamete", - "Abnormality of the outer ear", - "abnormality of camera-type eye physiology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "posterior nasal aperture atresia", - "Hypospadias", - "decreased pigmentation in independent continuant", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Cardiomyopathy", - "abnormal lens of camera-type eye morphology", - "Hydrocephalus", - "Abnormal morphology of ulna", - "Aplastic anemia", + "Aplasia/Hypoplasia of fingers", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Abnormality of the musculoskeletal system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "abnormal skeletal system morphology", - "Hip dislocation", - "Slanting of the palpebral fissure", - "Abnormality of refraction", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "phenotype by ontology source", - "abnormal phalanx of manus morphology", - "abnormal visual perception", - "Abnormality of pancreas physiology", + "Short long bone", + "decreased height of the multicellular organism", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "Abnormality of body height", + "abnormal digestive system morphology", + "abnormal musculature of upper limb", + "continuant", + "Azoospermia", + "Finger aplasia", + "abnormal intestine morphology", + "aplastic manual digit 1", + "decreased qualitatively reproductive process", + "anatomical entity hypoplasia in independent continuant", + "abnormally localised testis", + "Abnormal large intestine morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormality of limb bone", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Hydronephrosis", + "decreased length of anatomical entity", + "absent sperm in the semen", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal fetal morphology", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "non-functional anatomical entity", + "aplasia or hypoplasia of radius bone", "abnormal anatomical entity", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "increased size of the anatomical entity", - "abnormal limb bone", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "Cataract", - "Abnormal renal morphology", - "curved anatomical entity in independent continuant", - "Anemia of inadequate production", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal forearm morphology", + "abnormal gamete", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal size of anatomical entity", + "abnormal external genitalia", + "abnormal renal system morphology", + "Abnormal fetal genitourinary system morphology", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "Abnormality of chromosome stability", + "abnormal kidney", + "Abnormality of the cardiovascular system", "Abnormality of the genitourinary system", - "shape cornea", - "abnormal manual digit morphology in the manus", - "abnormal growth", - "abnormal craniocervical region morphology", - "abnormally fused anatomical entity and pedal digit", - "abnormal lymphatic part of lymphoid system", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "Abnormality of skull size", - "Abnormal vascular morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", + "absent germ cell", + "changed biological_process rate", + "abnormal upper urinary tract", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abnormal renal pelvis morphology", + "abnormal genitourinary system", + "abnormal renal pelvis", + "Fetal pyelectasis", + "abnormal late embryo", + "Abnormality of the urinary system", + "Abnormality of the genital system", + "increased size of the renal pelvis", + "Fetal ultrasound soft marker", + "abnormal number of anatomical enitites of type cell", + "abnormal multicellular organismal reproductive process", "abnormal reproductive process", - "abnormal heart left ventricle morphology", - "abnormal female reproductive system", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal forelimb zeugopod morphology", - "abnormal number of anatomical enitites of type platelet", - "decreased biological_process", - "abnormal neocortex morphology", - "Embryonal neoplasm", - "Pyridoxine-responsive sideroblastic anemia", + "Abnormal internal genitalia", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal reproductive system", "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "Growth abnormality", - "abnormal orbital region", - "abnormal sensory perception of light stimulus", - "Abnormality of the orbital region", - "quality", - "Abnormal eyelid morphology", - "increased pigmentation in skin of body", - "abnormal aorta morphology", - "abnormal pulmonary valve morphology", - "abnormal endocrine gland morphology", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal development of anatomical entity", - "abnormal renal system morphology", - "All", - "Abnormal bone structure", - "Abnormal cerebral ventricle morphology", - "abnormal trachea morphology", - "decreased qualitatively biological_process", - "absent manual digit", - "ulna hypoplasia", - "abnormality of exocrine gland physiology", - "decreased size of the mandible", - "Intestinal pseudo-obstruction", - "Decreased anatomical entity mass", - "entity", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Cholestasis", - "abnormal digit", - "Abnormality of the skeletal system", + "Growth delay", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "Abnormal external genitalia", + "abnormal developmental process involved in reproduction", + "abnormal anatomical entity morphology in the pectoral complex", + "Functional abnormality of male internal genitalia", + "Abnormality of reproductive system physiology", + "absent anatomical entity in the semen", + "Abnormality of male external genitalia", + "Phenotypic abnormality", + "abnormal reproductive system morphology", + "decreased qualitatively developmental process", + "abnormality of internal male genitalia physiology", + "abnormal male reproductive system", + "abnormal kidney morphology", + "decreased spermatogenesis", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "abnormally localised anatomical entity in independent continuant", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal number of anatomical enitites of type sperm", + "Non-obstructive azoospermia", + "abnormal male reproductive organ morphology", + "Fetal anomaly", + "abnormal external male genitalia", + "Short finger", + "thenar eminence hypoplasia", + "decreased length of digit", "Deviation of finger", - "Autosomal recessive inheritance", - "curvature anatomical entity", - "abnormal skin of body", - "abnormal upper urinary tract", - "Limb undergrowth", - "increased height of the anatomical entity", - "Finger clinodactyly", - "abnormal endocrine system morphology", - "Ptosis", - "abnormal female reproductive system morphology", - "Abnormal neck morphology", - "abnormal peritoneum morphology", - "abnormal shape of forehead", - "abnormality of pancreas physiology", - "abnormal camera-type eye morphology", - "aplasia or hypoplasia of manual digit 1", - "abnormally decreased number of cell", - "Abnormal mandible morphology", - "abnormal head morphology", - "increased size of the abdominal viscera", - "abnormal vertebral column", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", + "abnormal manual digit 1 morphology", + "Short thumb", + "Short digit", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "abnormal primary metabolic process", "Deviation of the hand or of fingers of the hand", - "abnormal late embryo", - "Almond-shaped palpebral fissure", - "Abdominal wall defect", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal axial skeleton morphology", - "abnormal head", - "Pancytopenia", - "Hyperpigmentation of the skin", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal reproductive system", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal kidney", - "decreased length of anatomical entity in independent continuant", - "hypertrophic multicellular anatomical structure", - "abnormal pigmentation in independent continuant", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "abnormal ocular adnexa", - "Anorexia", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of multiple cell lineages in the bone marrow", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal vestibulo-ocular reflex", - "Abnormal preputium morphology", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "Abnormality of head or neck", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", - "abnormal nervous system", - "abnormal central nervous system morphology", - "agenesis of anatomical entity", - "Genital neoplasm", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "Abnormality of the palpebral fissures", - "decreased developmental process", - "Neuroblastoma", - "changed muscle contraction rate", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal digit morphology", - "abnormal manus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal large intestine morphology", - "anatomical entity hyperplasia", - "abnormal cervical vertebra", - "Neoplasm of the pancreas", - "aplastic manual digit 1", + "abnormal size of multicellular organism", + "decreased height of the anatomical entity", + "abnormality of anatomical entity height", "Aplasia/hypoplasia of the extremities", - "drooping anatomical entity", - "Atrial septal defect", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "decreased pigmentation in skin of body", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "Abnormal aortic valve morphology", - "abnormal autopod region morphology", - "U-shaped kidney", + "decreased biological_process", + "Short stature", + "decreased size of the multicellular organism", + "abnormal growth", + "abnormal cardiovascular system", + "delayed growth", + ], + "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:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0002984", + "HP:0000581", + "HP:0001510", + "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": [ "Absent thumb", - "clavate digit", - "shape eyelid", - "abnormal arm", - "Abnormality of limb bone", - "Abnormal eye morphology", - "abnormal connective tissue", - "abnormality of ear physiology", - "Abnormal male urethral meatus morphology", - "Intermittent diarrhea", - "Poor appetite", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "abnormal cardiac valve morphology", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal shape of the palpebral fissure", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormal cardiac valve morphology in the heart", - "Splenomegaly", - "Small for gestational age", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the ocular adnexa", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal limb", - "curvature anatomical entity in independent continuant", - "Abnormal ear morphology", - "abnormal craniocervical region", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal manus morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal ulna morphology", - "abnormal limb bone morphology", - "Abnormality of the urethra", - "abnormal brain morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of chromosome stability", - "abnormal testis morphology", - "decreased biological_process in multicellular organism", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal ileum morphology", - "Abdominal pain", - "Abnormal morphology of female internal genitalia", - "abnormal ovary", - "abnormal zone of skin morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal neck", - "abnormal anatomical entity length", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "abnormal exocrine gland morphology", - "abnormal internal female genitalia morphology", - "abnormal internal naris", - "Neurodevelopmental abnormality", - "Gonadal neoplasm", - "increased biological_process in skin of body", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal ventricular septum morphology", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "Horseshoe kidney", - "abnormal myocardium morphology", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal size of the palpebral fissures", - "Extrahepatic cholestasis", - "deviation of anatomical entity towards the middle", - "Abnormal testis morphology", - "abnormal incomplete closing of the secondary palate", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Melanoma", - "Abnormal tracheobronchial morphology", - "Breast carcinoma", - "Elevated hepatic transaminase", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Hypoplasia of the radius", + "Blepharophimosis", "Growth delay", - "Abnormal external genitalia", - "abnormal closing of the anatomical entity", - "Abnormal ear physiology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal vein morphology", - "Decreased body weight", - "aplastic anatomical entity", - "abnormal external ear morphology", - "absent anatomical entity in the multicellular organism", - "Microphthalmia", - "decreased qualitatively developmental process", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal anatomical entity morphology", - "Abnormal reflex", - "Autosomal dominant inheritance", - "abnormal anatomical entity, curved", - "absent sperm in the independent continuant", - "abnormally formed anatomical entity", - "absent sperm", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormally localised anatomical entity", - "Abnormal heart morphology", - "Acute myeloid leukemia", - "Aplasia/Hypoplasia of the testes", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "abnormal number of anatomical enitites of type sperm", - "abnormal spleen morphology", - "Abnormal penis morphology", - "Intellectual disability", - "Neoplasm", - "Abnormal cardiac atrium morphology", - "abnormal male reproductive organ morphology", - "Toe syndactyly", - "Abnormality of metabolism/homeostasis", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "Abnormal enzyme concentration or activity", - "abnormal facial skeleton morphology", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "abnormal hypothalamus-pituitary axis", - "Macule", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal female reproductive organ morphology", - "Acute leukemia", - "Decreased anatomical entity mass density", - "Diarrhea", - "abnormal synovial joint morphology", - "increased size of the brain ventricle", - "Abnormal upper limb bone morphology", - "Atypical behavior", - "Neoplasm of the breast", - "Ventriculomegaly", - "increased size of the liver", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Abnormality of prenatal development or birth", - "Oligohydramnios", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal anatomical entity morphology in the manus", - "abnormal platelet morphology", - "Abnormal thorax morphology", - "Abnormal platelet count", - "abnormal internal male genitalia morphology", - "Thrombocytopenia", - "abnormal cell", - "abnormal blood cell morphology", - "Abnormal circulating enzyme concentration or activity", - "abnormal blood cell", - "abnormal myeloid cell morphology", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Onset", - "abnormal size of eyeball of camera-type eye", - "absent anatomical entity", - "decreased size of the eyeball of camera-type eye", - "abnormal sensory perception", - "Forearm undergrowth", - "Tetralogy of Fallot", - "increased height of the secondary palate", - "Decreased bone element mass density", - "increased size of the anatomical entity in independent continuant", + "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": [ + "UPHENO:0002597", + "HP:0000078", + "UPHENO:0003055", + "HP:0000080", + "UPHENO:0053580", + "UPHENO:0050101", + "HP:0012874", + "HP:0000812", + "UPHENO:0081755", + "HP:0000811", + "HP:0000028", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0078452", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0002595", + "UPHENO:0049367", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0002598", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "UPHENO:0085874", + "HP:0000025", + "UPHENO:0085194", + "UPHENO:0005651", + "UPHENO:0049985", + "UPHENO:0078729", + "UPHENO:0082875", + "UPHENO:0050620", + "HP:0000365", + "UPHENO:0052970", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0052178", + "UPHENO:0002240", + "HP:0000002", + "UPHENO:0080352", + "UPHENO:0081424", + "HP:0011017", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "UPHENO:0049990", + "UPHENO:0049748", + "UPHENO:0050113", + "HP:0003220", + "HP:0000079", + "UPHENO:0086023", + "UPHENO:0041226", + "UPHENO:0080382", + "UPHENO:0041629", + "UPHENO:0082129", + "HP:0012210", + "HP:0000085", + "UPHENO:0002332", + "UPHENO:0087427", + "HP:0100542", + "UPHENO:0049940", + "HP:0010935", + "HP:0012130", + "HP:0001877", + "HP:0001903", + "UPHENO:0087430", + "UPHENO:0065599", + "HP:0000436", + "UPHENO:0084715", + "HP:0000414", + "UPHENO:0088168", + "HP:0000086", + "UPHENO:0001072", + "UPHENO:0053298", + "UPHENO:0084727", + "HP:0009381", + "UPHENO:0046624", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0076803", + "UPHENO:0083646", + "HP:0034261", + "HP:0004322", + "UPHENO:0002833", + "HP:0009118", + "HP:0011821", + "UPHENO:0046411", + "HP:0000277", + "HP:0025031", + "HP:0000347", + "UPHENO:0081786", + "HP:0000252", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "HP:0002060", + "UPHENO:0076718", + "UPHENO:0054567", + "UPHENO:0004523", + "UPHENO:0085873", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "HP:0010461", + "UPHENO:0050625", + "HP:0000929", + "UPHENO:0087802", + "HP:0001000", + "UPHENO:0087547", + "UPHENO:0088170", + "UPHENO:0001001", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0003026", + "UPHENO:0076791", + "UPHENO:0086589", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0002635", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0088162", + "HP:0000953", + "HP:0025033", + "UPHENO:0087907", + "HP:0006501", + "UPHENO:0080377", + "UPHENO:0075195", + "UPHENO:0080662", + "UPHENO:0081435", + "UPHENO:0021791", + "HP:0001574", + "HP:0007400", + "HP:0000001", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0002903", + "HP:0011875", + "UPHENO:0050121", + "HP:0002692", + "UPHENO:0074572", + "UPHENO:0080221", + "HP:0000957", + "UPHENO:0086700", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0021517", + "UPHENO:0087950", + "UPHENO:0002964", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0050845", + "UPHENO:0034770", + "UPHENO:0080099", + "UPHENO:0076739", + "HP:0007364", + "HP:0002977", + "UPHENO:0086595", + "HP:0000492", + "UPHENO:0088116", + "UPHENO:0054970", + "UPHENO:0002378", + "UPHENO:0060026", + "HP:0009380", + "UPHENO:0084763", + "UPHENO:0076702", + "UPHENO:0002708", + "UPHENO:0002764", + "UPHENO:0084448", + "HP:0009824", + "HP:0009115", + "UPHENO:0087501", + "HP:0000707", + "UPHENO:0086172", + "HP:0001034", + "HP:0001873", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "HP:0012443", + "UPHENO:0026181", + "UPHENO:0084987", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "HP:0030791", + "UPHENO:0049587", + "UPHENO:0002844", + "HP:0011297", + "UPHENO:0046707", + "UPHENO:0087472", + "UPHENO:0005016", + "HP:0000119", + "HP:0000152", + "UPHENO:0074584", + "UPHENO:0081790", + "HP:0001871", + "UPHENO:0079876", + "HP:0000118", + "UPHENO:0080165", + "HP:0001172", + "UPHENO:0076724", + "UPHENO:0085195", + "HP:0011961", + "UPHENO:0087006", + "HP:0032039", + "UPHENO:0077426", + "HP:0000240", + "HP:0000077", + "UPHENO:0002905", + "HP:0012733", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0080325", + "UPHENO:0059829", + "BFO:0000020", + "UPHENO:0074589", + "HP:0200007", + "HP:0000153", + "HP:0006265", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0081788", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0026183", + "HP:0040068", + "HP:0031704", + "HP:0040070", + "HP:0005922", + "HP:0001045", + "HP:0009601", + "HP:0001507", + "HP:0045060", + "UPHENO:0076723", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0049700", + "HP:0005927", + "HP:0000125", + "HP:0002817", + "HP:0002984", + "HP:0001876", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", + "HP:0040195", + "UPHENO:0001005", + "HP:0009121", + "UPHENO:0011498", + "HP:0009777", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0085875", + "HP:0011355", + "HP:0009116", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0006910", + "UPHENO:0002907", + "UPHENO:0074575", + "HP:0002011", + "HP:0012145", + "UPHENO:0084766", + "UPHENO:0050008", + "UPHENO:0087518", + "UPHENO:0008523", + "UPHENO:0050108", + "UPHENO:0041075", + "UPHENO:0085144", + "UPHENO:0076703", + "UPHENO:0002371", + "BFO:0000001", + "UPHENO:0088166", + "HP:0040064", + "HP:0001167", + "PATO:0000001", + "UPHENO:0026028", + "HP:0011844", + "UPHENO:0080079", + "HP:0001155", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080200", + "UPHENO:0076805", + "HP:0025461", + "UPHENO:0080126", + "UPHENO:0076799", + "UPHENO:0080187", + "HP:0011793", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0026506", + "HP:0008069", + "UPHENO:0021561", + "UPHENO:0085189", + "HP:0000315", + "UPHENO:0085118", + "UPHENO:0012274", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0046753", + "UPHENO:0046538", + "UPHENO:0068971", + "UPHENO:0081204", + "UPHENO:0076761", + "HP:0009821", + "HP:0025354", + "HP:0000366", + "HP:0005773", + "UPHENO:0005597", + "UPHENO:0081792", + "HP:0006503", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0054957", + "UPHENO:0004459", + "HP:0040072", + "UPHENO:0002910", + "UPHENO:0076727", + "UPHENO:0086045", + "UPHENO:0081451", + "UPHENO:0087349", + "UPHENO:0082444", + "UPHENO:0020041", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "UPHENO:0084928", + "HP:0002973", + "HP:0011121", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", + "UPHENO:0012541", + "HP:0010938", + "HP:0009778", + "HP:0006496", + "UPHENO:0075878", + "UPHENO:0020950", + "UPHENO:0054577", + "HP:0030669", + "UPHENO:0087089", + "UPHENO:0003085", + "HP:0002715", + "HP:0008050", + "UPHENO:0020888", + "UPHENO:0075997", + "UPHENO:0081314", + "HP:0009826", + "UPHENO:0075198", + "UPHENO:0041821", + "HP:0045025", + "HP:0000271", + "UPHENO:0001002", + "UPHENO:0087924", + "HP:0012745", + "HP:0005105", + "UPHENO:0000541", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0086201", + "HP:0001510", + "UPHENO:0000543", + "UPHENO:0049874", + "UPHENO:0086049", + "UPHENO:0002948", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0075902", + "HP:0001881", + "UPHENO:0009382", + "UPHENO:0085068", + "UPHENO:0087339", + "UPHENO:0053588", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0087355", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0084457", + "HP:0000951", + "HP:0000581", + "UPHENO:0002828", + "UPHENO:0081141", + "HP:0011873", + "HP:0020047", + "HP:0011893", + "HP:0032251", + "UPHENO:0085302", + "UPHENO:0085371", + "UPHENO:0085984", + "UPHENO:0086173", + "UPHENO:0069249", + "UPHENO:0080087", + "UPHENO:0076800", + "HP:0031816", + "UPHENO:0080351", + "HP:0009122", + ], + "has_phenotype_closure_label": [ + "Vitiligo", + "Ectopic kidney", + "abnormally localised kidney", + "abnormally localised anatomical entity", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal external male genitalia", + "Abnormality of the genital system", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", "Non-obstructive azoospermia", - "Abnormality of vision", - "Abnormality of the ureter", - "decreased qualitatively visual perception", - "abnormal interatrial septum morphology", - "Abnormality of the face", - "abnormal jaw skeleton morphology", - "changed embryo development rate", - "Proptosis", - "abnormal respiratory system morphology", - "abnormally protruding anatomical entity", - "Pancreatic adenocarcinoma", - "Abnormality of the lower limb", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", - "flat anatomical entity", - "abnormal bone marrow morphology", - "abnormal cerebral cortex morphology", - "flattened anatomical entity in independent continuant", - "abnormality of cardiovascular system physiology", - "Pes planus", - "decreased qualitatively sensory perception of mechanical stimulus", - "Mendelian inheritance", - "abnormal bone of pectoral complex morphology", - "flat longitudinal arch of pes", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormal hemopoietic organ morphology", - "Abnormal consumption behavior", - "Abnormal male internal genitalia morphology", - "abnormally fused digit and digit", - "Arteriovenous malformation", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "increased length of the epicanthal fold", - "Peritoneal abscess", - "Renal agenesis", - "Cleft palate", - "abnormally fused pedal digit and pedal digit", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "abnormally localised anatomical entity in independent continuant", + "absent sperm in the independent continuant", + "abnormal male reproductive system", + "abnormality of internal male genitalia physiology", + "decreased qualitatively developmental process", + "absent gamete", + "abnormal gamete", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "changed developmental process rate", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "abnormal testis morphology", + "Abnormal testis morphology", + "Azoospermia", + "Abnormality of the male genitalia", + "abnormal multicellular organismal reproductive process", + "Abnormality of the ear", + "abnormality of ear physiology", + "abnormality of anatomical entity physiology", + "Hearing abnormality", + "Hearing impairment", + "decreased size of the multicellular organism", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", "abnormal size of multicellular organism", - "Glucose intolerance", - "abnormal location of anatomical entity", - "abnormally fused pedal digit and anatomical entity", - "abnormal tetrapod frontal bone morphology", - "abnormality of internal ear physiology", - "abnormal pedal digit morphology", - "abnormal phenotype by ontology source", - "abnormal bone marrow cell morphology", - "Abnormality of eye movement", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "Chromosomal breakage induced by crosslinking agents", + "Pelvic kidney", + "Abnormal cellular physiology", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "Abnormality of the urinary system", + "shape anatomical entity", + "abnormal genitourinary system", + "Abnormality of the kidney", + "3-D shape anatomical entity in independent continuant", + "U-shaped kidney", + "abnormal renal system", + "abnormal upper urinary tract", + "U-shaped anatomical entity", + "3-D shape anatomical entity", + "Abnormality of the genitourinary system", + "shape kidney", + "abnormality of reproductive system physiology", + "absent sperm", + "Horseshoe kidney", + "shape anatomical entity in independent continuant", "concave 3-D shape anatomical entity", - "Bicornuate uterus", - "abnormal behavior", - "abnormal eye movement", - "abnormal cardiac valve morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal cranium morphology", - "abnormal penis morphology", - "abnormal artery morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "abnormal opening of the anatomical entity", - "Neoplasm of the liver", - "abnormal cardiac septum morphology", - "Abnormal cardiac septum morphology", - "Abnormal atrial septum morphology", - "Global developmental delay", - "Right ventricular hypertrophy", - "Conotruncal defect", + "abnormal renal system morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "Abnormality of body height", + "abnormal external nose morphology", + "Abnormality of the nose", + "abnormal nose", + "Abnormal nasal tip morphology", "abnormally increased volume of anatomical entity", - "Chronic fatigue", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", - "Abnormality of the mouth", - "abnormal interventricular septum morphology", - "Abnormal morphology of the great vessels", - "Neoplasm of the genitourinary tract", - "Abnormal ventriculoarterial connection", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "Abnormal jaw morphology", - "Meckel diverticulum", - "increased size of the heart right ventricle", - "Ventricular hypertrophy", - "Overriding aorta", - "decreased muscle contraction", - "abnormal great vessel of heart morphology", - "Abnormal myocardium morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Abnormal facial shape", - "Craniofacial cleft", - "Decreased fertility", - "Abnormal leukocyte count", - "Facial asymmetry", - "abnormal sensory perception of sound", - "abnormal spatial pattern of anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "Colon cancer", - "abnormal aortic valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal facial skeleton morphology", - "mandible hypoplasia", - "Abnormality of skin morphology", - "Diabetes mellitus", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "Gastrointestinal obstruction", - "clavate anatomical entity", - "facial bone hypoplasia", - "abnormal mouth", - "aplasia or hypoplasia of mandible", + "Bulbous nose", + "abnormal nose morphology", + "Abnormal external nose morphology", + "increased size of the anatomical entity in independent continuant", + "decreased length of manual digit 1", + "Short digit", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "abnormal mandible morphology", + "Abnormality of reproductive system physiology", "Aplasia/Hypoplasia involving bones of the skull", - "shape forehead", - "herniated abdominal wall", - "abnormal manual digit 5 morphology", - "Sloping forehead", - "decreased sensory perception of sound", - "abnormality of alimentary part of gastrointestinal system physiology", - "Functional intestinal obstruction", - "abnormal manual digit 1 morphology", - "Abnormal fallopian tube morphology", - "Syndactyly", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "abnormal response to external stimulus", - "abnormal fallopian tube morphology", - "abnormal cornea morphology", - "Intrauterine growth retardation", - "Neuroblastic tumor", - "abnormal breast", - "abnormal embryo development", - "decreased embryo development", - "Hernia", - "abnormal abdominal wall", - "Abnormality of the abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the cervical spine", - "Abnormal umbilicus morphology", - "Hernia of the abdominal wall", - "Abnormality of digestive system physiology", - "Abnormal cell morphology", - "Abnormal palate morphology", - "Medulloblastoma", - "Abnormal intestine morphology", - "Malignant neoplasm of the central nervous system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Neoplasm of the central nervous system", - "abnormal oral cavity morphology", - "increased height of anatomical entity in independent continuant", - "High palate", - "abnormal heart right ventricle morphology", - "abnormality of anatomical entity height", - "abnormal midface morphology", - "Abnormal midface morphology", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "abnormal physiologic nystagmus", - "Abnormality of femur morphology", - "Abnormal joint morphology", - "Abnormal cerebral morphology", - "Joint dislocation", - "abnormal synovial joint of pelvic girdle morphology", - "abnormal hip joint morphology", - "Micrognathia", - "anatomical entity dislocation", - "abnormal pelvic girdle bone/zone morphology", - "absent anatomical entity in the forelimb", - "Increased head circumference", - "Abnormal hip bone morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "skeletal joint dislocation", - "Lower extremity joint dislocation", + "abnormal digestive system", + "aplasia or hypoplasia of mandible", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "abnormal long bone morphology", + "abnormal nervous system", + "Neoplasm", + "Morphological central nervous system abnormality", + "abnormal facial skeleton morphology", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "aplasia or hypoplasia of telencephalon", + "Decreased head circumference", + "delayed growth", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "abnormal biological_process in independent continuant", + "Abnormality of the nervous system", + "Squamous cell carcinoma", + "abnormal integument", + "abnormal biological_process", + "Hyperpigmentation of the skin", + "abnormal digestive system morphology", + "Irregular hyperpigmentation", "abnormal skeletal system", - "Abnormal calvaria morphology", - "Dolichocephaly", - "increased size of the head", - "abnormal external genitalia", - "abnormal size of head", - "abnormal vault of skull", - "Abnormality of the ovary", - "Abnormal aortic morphology", - "Abscess", - "abnormal skin of face morphology", - "abnormal neural tube closure", - "abnormal skin of head morphology", - "abnormal long bone morphology", - "Ovarian carcinoma", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Chromosomal breakage induced by crosslinking agents", - "abnormal roof of mouth morphology", - "prominent anatomical entity", - "abnormal metabolic process", - "Lymphadenopathy", - "increased size of the lymph node", - "abnormal DNA metabolic process", - "Chromosome breakage", - "abnormal cellular component organization", - "abnormal nitrogen compound metabolic process", - "abnormal chromatin organization", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "abnormal soft palate morphology", - "Aplasia/Hypoplasia of the uvula", - "shape uterus", - "3-D shape anatomical entity", - "abnormal uterus morphology", - "Functional abnormality of the inner ear", - "abnormal uterus", - "Abnormality of the uterus", - "Abnormal glucose homeostasis", - "Abnormal homeostasis", - "abnormal glucose homeostasis", - "abnormal cellular process", - "abnormal carbohydrate homeostasis", - "decreased length of palpebral fissure", - "increased pigmentation", + "decreased width of the anatomical entity in independent continuant", + "Abnormality of skin pigmentation", + "abnormal ocular adnexa morphology", + "Abnormal axial skeleton morphology", + "Abnormal facial skeleton morphology", + "decreased size of the anatomical entity in the pectoral complex", "Abnormal skeletal morphology", + "Cafe-au-lait spot", + "Macule", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal mandible morphology", + "absent anatomical entity in the limb", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", "Short palpebral fissure", - "Gastrointestinal dysmotility", - "absent kidney", - "abnormal incomplete closing of the interatrial septum", - "Decreased multicellular organism mass", - "abnormal consumption behavior", - "Aplasia/Hypoplasia of the ulna", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "Abnormality of the gastrointestinal tract", - "Neuroepithelial neoplasm", - "Primitive neuroectodermal tumor", - "changed developmental process rate", - "abnormal musculoskeletal movement", - "Nervous tissue neoplasm", - "abnormal muscle contraction", - "Leukemia", - "decreased gastro-intestinal system smooth muscle contraction", + "Abnormal size of the palpebral fissures", + "abnormal digit", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormally localised testis", + "anatomical entity hypoplasia in face", + "Abnormality of digestive system morphology", + "abnormal limb", + "Abnormal appendicular skeleton morphology", + "abnormal head", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased size of the anatomical entity", + "Abnormal nervous system morphology", + "abnormal limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "increased qualitatively biological_process in independent continuant", + "Abnormal finger morphology", + "abnormal craniocervical region morphology", + "continuant", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "aplastic anatomical entity", + "increased biological_process in independent continuant", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of fingers", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "agenesis of anatomical entity", + "increased qualitatively biological_process", + "All", + "Abnormal upper limb bone morphology", + "absent anatomical entity", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "abnormal forebrain morphology", + "absent germ cell", + "abnormally increased volume of nose", + "increased biological_process in skin of body", + "changed biological_process rate", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of skull size", "abnormal face morphology", - "abnormal intestine morphology", - "abnormal gastro-intestinal system smooth muscle contraction", - "Neoplasm of the colon", - "Anemia", - "abnormal large intestine morphology", + "Limb undergrowth", + "abnormal platelet", + "abnormal reproductive system", + "Abnormality of head or neck", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal spermatogenesis", + "Localized skin lesion", + "Abnormal hand morphology", + "absent digit", + "quality", + "abnormal limb bone morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "increased pigmentation", + "Abnormal oral morphology", + "increased pigmentation in independent continuant", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal digit morphology", + "Abnormal forebrain morphology", "Abnormality of the skin", - "Abnormality of the breast", - "Abnormality of skin pigmentation", - "abnormal chest morphology", - "abnormal chest", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal breast morphology", - "abnormal hindlimb morphology", - "abnormal breast morphology", - "Abnormality of body height", - "Abnormality of the eye", - "decreased size of the ulna", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Aplasia/Hypoplasia of facial bones", + "Abnormality of the hand", + "abnormal sensory perception", + "abnormal manus", + "Finger aplasia", + "abnormal skull morphology", + "Abnormal platelet morphology", + "mandible hypoplasia", + "phenotype by ontology source", + "aplastic manual digit 1", + "Aplasia/Hypoplasia of the thumb", + "abnormal head morphology", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "Abnormal digit morphology", + "abnormal hematopoietic system morphology", + "abnormal arm", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "decreased biological_process", + "Short stature", + "Hypoplastic facial bones", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "abnormal anatomical entity morphology in the brain", + "Abnormality of limb bone", + "decreased qualitatively sensory perception of sound", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormal nasal morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal erythroid lineage cell morphology", + "bone element hypoplasia in independent continuant", + "absent anatomical entity in the multicellular organism", + "Abnormality of the orbital region", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "aplasia or hypoplasia of manual digit", + "abnormal appendicular skeleton morphology", + "decreased length of palpebral fissure", + "abnormal blood cell", + "abnormal pigmentation", + "abnormal ear", + "Absent thumb", + "abnormal autopod region morphology", + "decreased height of the multicellular organism", + "Short long bone", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "Abnormality of the head", + "Neoplasm of the skin", + "decreased length of long bone", + "abnormal radius bone morphology", + "abnormal face", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "Aplasia/Hypoplasia of the radius", + "anatomical entity hypoplasia in independent continuant", + "Abnormal localization of kidney", + "Growth abnormality", + "abnormal orbital region", + "phenotype", + "Abnormal cell morphology", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "radius bone hypoplasia", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "abnormal nose tip morphology", + "Aplasia/hypoplasia involving forearm bones", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal palpebral fissure", + "abnormally decreased number of cell", + "absent sperm in the semen", + "decreased length of anatomical entity", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormal ocular adnexa morphology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "abnormal limb long bone morphology", + "increased pigmentation in skin of body", + "decreased length of forelimb zeugopod bone", + "Microcephaly", + "changed biological_process rate in independent continuant", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal bone marrow cell morphology", + "Blepharophimosis", + "Abnormal erythrocyte morphology", + "aplasia or hypoplasia of radius bone", + "decreased size of the mandible", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal internal genitalia", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased spermatogenesis", + "abnormal kidney morphology", + "decreased width of the palpebral fissure", + "Abnormality of the palpebral fissures", + "Abnormal internal genitalia", + "abnormal eyelid morphology", + "Abnormal eyelid morphology", + "abnormal hematopoietic system", + "Abnormality of the upper urinary tract", + "decreased width of the anatomical entity", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal ocular adnexa", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal size of palpebral fissure", + "Narrow palpebral fissure", "decreased height of the anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", - "decreased height of the multicellular organism", - "Abnormality of the vertebral column", - "Short stature", - "Abnormality of bone marrow cell morphology", - "abnormal erythrocyte morphology", - "Nystagmus", - "Cryptorchidism", - "abnormal outflow part of left ventricle morphology", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "Abnormal gastrointestinal motility", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "Cranial nerve paralysis", - "abnormal peripheral nervous system morphology", - "Abnormality of the peripheral nervous system", - "paralysed cranial nerve", - "paralysed anatomical entity", - "Sideroblastic anemia", - "abnormal location of eyeball of camera-type eye", - "deviation of manual digit 5", - "deviation of digit towards the middle", - "deviation of manual digit", - "Abnormality of the hypothalamus-pituitary axis", - "deviation of anatomical entity", - "Visual impairment", - "deviation of manual digit towards the middle", - "deviation of manual digit 5 towards the middle", - "Abnormality of bone mineral density", - "decreased length of manual digit", - "Short finger", - "Pain", - "Short thumb", - "Prostate neoplasm", - "Short digit", - "decreased length of manual digit 1", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "decreased multicellular organism mass", - "decreased qualitatively pigmentation", - "Hypopigmentation of the skin", - "Abnormality of the urinary system physiology", - "Hypopigmented skin patches", - "abnormal phalanx of pes morphology", - "abnormal abdomen morphology", - "abnormal phalanx morphology", - "lymph node hyperplasia", - "Abnormal toe phalanx morphology", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "Abnormality of enteric ganglion morphology", + "Abnormality of the face", + "decreased sensory perception of sound", "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal lymph node morphology", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Clinical course", - "abnormal small intestine", - "Azoospermia", - "Abnormal small intestine morphology", - "abnormal eyelid morphology", - "Back pain", - "Abnormal peritoneum morphology", - "Reduced impulse control", - "Recurrent maladaptive behavior", - "Abnormal shape of the frontal region", - "abnormal heart layer morphology", - "Abnormality of lower limb joint", - "Abnormal frontal bone morphology", - "increased qualitatively biological_process", - "Abnormal cerebral cortex morphology", - "abnormal shape of frontal cortex", - "abnormal cerebral hemisphere morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal frontal cortex morphology", - "abnormal homeostatic process", - "abnormal lymph node morphology", - "abnormal size of lymph node", - "Abnormal duodenum morphology", - "Pelvic kidney", - "Abnormal thumb morphology", - "aplasia or hypoplasia of ulna", - "Unilateral renal agenesis", - "Abnormal vestibular function", - "absent kidney in the independent continuant", - "Congenital malformation of the great arteries", - "decreased pigmentation in multicellular organism", - "absent anatomical entity in the renal system", - "abnormally decreased functionality of the gonad", - "Puberty and gonadal disorders", - "Male reproductive system neoplasm", - "Orofacial cleft", - "abnormal enteric ganglion morphology", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal esophagus morphology", + "aplasia or hypoplasia of skull", + "Growth delay", + "abnormal cell", + "Abnormal leukocyte count", + "abnormal hematopoietic cell morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormality of the skeletal system", + "Abnormality of the ocular adnexa", + "Micrognathia", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal immune system", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal developmental process involved in reproduction", + "Thrombocytopenia", + "Abnormality of the immune system", + "Pancytopenia", + "abnormal growth", + "abnormal leukocyte morphology", + "Abnormality of blood and blood-forming tissues", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Anemia", + "abnormal bone marrow cell", + "abnormal nervous system morphology", + "abnormal cell morphology", + "abnormal external genitalia", "abnormal size of anatomical entity", - "abnormality of renal system physiology", - "Abnormal lens morphology", - "Abnormal respiratory system morphology", - "Multiple cafe-au-lait spots", - "increased reflex", - "increased qualitatively response to stimulus", - "Hyperreflexia", - "Decreased fertility in males", + "Abnormality of thrombocytes", + "Aplasia/Hypoplasia of the mandible", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormality of the digestive system", + "abnormal head bone morphology", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "abnormal mouth morphology", + "abnormal size of skull", + "Abnormality of the mouth", + "bone element hypoplasia in face", ], - "has_phenotype_count": 156, + "has_phenotype_count": 20, "highlight": None, "score": None, }, { - "id": "MONDO:0013248", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi renotubular syndrome 1", "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": None, + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], "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", + "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:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", - "HP:0002984", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", "HP:0004322", - "HP:0001245", + "HP:0003126", + "HP:0000083", + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", "HP:0003774", - "HP:0025023", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", "Short stature", - "Small thenar eminence", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", ], "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", + "UPHENO:0078555", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068079", + "UPHENO:0084542", + "UPHENO:0051619", + "UPHENO:0051714", + "UPHENO:0051608", + "UPHENO:0051688", + "UPHENO:0051659", + "HP:0001995", + "HP:0004918", + "HP:0025142", + "HP:0012531", + "HP:0011279", + "HP:0002659", + "HP:0003081", + "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0078640", + "UPHENO:0050484", "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", - "HP:0001510", - "UPHENO:0086201", - "HP:0000811", - "UPHENO:0074228", - "UPHENO:0001005", - "UPHENO:0002597", - "HP:0011793", - "UPHENO:0076776", - "HP:0006503", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "UPHENO:0002839", - "BFO:0000002", - "UPHENO:0053298", - "HP:0004322", - "UPHENO:0002833", - "UPHENO:0080099", - "HP:0030680", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0046411", - "UPHENO:0080351", - "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "HP:0005773", - "HP:0001155", - "UPHENO:0077426", - "UPHENO:0084771", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0021561", - "HP:0009821", + "UPHENO:0084537", + "HP:0010996", + "UPHENO:0049723", + "HP:0004359", + "HP:0010966", + "HP:0012103", "HP:0025354", - "UPHENO:0080126", - "UPHENO:0076810", - "HP:0011844", - "UPHENO:0080079", - "HP:0009601", - "HP:0001507", + "HP:0003119", + "UPHENO:0006889", + "HP:0011843", + "HP:0003234", + "UPHENO:0082544", + "HP:0004354", + "UPHENO:0034319", + "UPHENO:0084472", + "UPHENO:0068442", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "HP:0004369", + "HP:0011038", + "UPHENO:0051280", + "UPHENO:0051898", + "HP:0011017", + "UPHENO:0034199", + "UPHENO:0051704", + "HP:0011280", + "HP:0002653", "UPHENO:0076703", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", - "HP:0009824", - "UPHENO:0084448", - "UPHENO:0086700", - "UPHENO:0081204", - "HP:0001245", - "HP:0004378", - "HP:0000001", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0001939", - "UPHENO:0001003", - "UPHENO:0012274", - "UPHENO:0086644", - "HP:0011314", - "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", - "UPHENO:0046538", - "HP:0001167", - "HP:0040064", - "UPHENO:0076779", - "UPHENO:0050116", - "UPHENO:0049367", + "UPHENO:0049618", + "HP:0011042", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0051887", + "UPHENO:0034438", + "HP:0001943", + "UPHENO:0051958", + "UPHENO:0068352", + "UPHENO:0081777", + "UPHENO:0066927", + "UPHENO:0081544", + "HP:0006530", + "HP:0004352", + "UPHENO:0079536", + "UPHENO:0034217", + "HP:0010929", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0069254", + "HP:0001871", + "UPHENO:0051186", + "HP:0004322", + "HP:0004323", + "HP:0003149", + "UPHENO:0049628", + "UPHENO:0004459", + "UPHENO:0002411", + "UPHENO:0075666", + "UPHENO:0050080", "UPHENO:0068971", - "UPHENO:0078452", - "UPHENO:0001002", - "UPHENO:0080362", - "HP:0011297", - "HP:0001626", - "HP:0003220", - "UPHENO:0011498", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "UPHENO:0051960", + "UPHENO:0046356", + "UPHENO:0076289", + "UPHENO:0049709", + "UPHENO:0000541", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0034253", + "HP:0001324", + "UPHENO:0082543", + "UPHENO:0068134", + "UPHENO:0067999", + "HP:0000124", + "HP:0010935", + "UPHENO:0078646", + "UPHENO:0034248", + "UPHENO:0068094", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0046283", + "HP:0011277", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0003111", + "HP:0000079", + "HP:0004379", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0079822", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "HP:0012211", + "UPHENO:0051847", + "HP:0001942", + "HP:0001507", + "UPHENO:0076294", + "UPHENO:0002964", + "UPHENO:0084653", + "UPHENO:0002320", + "HP:0430071", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0100529", + "UPHENO:0001005", + "UPHENO:0068036", "UPHENO:0050113", - "HP:0034058", - "UPHENO:0086128", - "UPHENO:0049587", - "HP:0006501", - "UPHENO:0002708", - "HP:0000032", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0001197", - "UPHENO:0050021", - "HP:0045060", - "HP:0034915", - "UPHENO:0002830", - "UPHENO:0086682", - "HP:0025033", - "UPHENO:0050845", - "BFO:0000020", - "UPHENO:0081466", - "HP:0040012", - "HP:0000028", - "UPHENO:0049748", - "UPHENO:0076723", - "UPHENO:0002647", - "UPHENO:0049873", - "HP:0000083", - "UPHENO:0026506", - "HP:0000027", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", + "UPHENO:0051686", + "UPHENO:0001002", + "UPHENO:0046284", + "UPHENO:0068110", + "HP:0001947", + "UPHENO:0051645", + "UPHENO:0020748", + "UPHENO:0002442", + "UPHENO:0001003", + "UPHENO:0054261", "UPHENO:0002536", "UPHENO:0076692", "UPHENO:0080352", - "UPHENO:0026181", - "HP:0003241", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0076727", - "HP:0006265", - "HP:0011425", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0002595", - "UPHENO:0003055", - "HP:0011805", - "HP:0009777", - "UPHENO:0026183", - "HP:0040068", - "HP:0040070", - "UPHENO:0009382", - "UPHENO:0049990", - "UPHENO:0076724", - "HP:0009381", - "UPHENO:0088186", - "HP:0009815", + "HP:0000093", + "HP:0000001", + "HP:0004348", + "UPHENO:0082834", + "HP:0003774", + "UPHENO:0080659", + "UPHENO:0051668", + "UPHENO:0052116", "HP:0000924", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0001172", - "HP:0000118", - "HP:0011842", + "HP:0003330", + "HP:0010930", + "UPHENO:0046348", + "HP:0020129", + "HP:0000077", + "UPHENO:0068089", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0001001", + "UPHENO:0081440", + "UPHENO:0086908", + "HP:0012599", "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0084763", - "UPHENO:0086633", + "HP:0011842", + "HP:0002150", + "HP:0033127", + "BFO:0000001", + "UPHENO:0082539", + "UPHENO:0082538", + "UPHENO:0050433", + "UPHENO:0051763", + "HP:0003011", + "HP:0012337", + "UPHENO:0049904", + "UPHENO:0081550", + "HP:0012591", + "HP:0001939", + "UPHENO:0068064", + "HP:0002748", + "HP:0003126", "UPHENO:0002803", "UPHENO:0002832", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0040072", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0020041", - "UPHENO:0086198", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076718", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0012541", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0049940", - "HP:0010935", - "HP:0010944", - "UPHENO:0001072", - "UPHENO:0005651", - "UPHENO:0084132", - "UPHENO:0084124", - "HP:0008669", - "HP:0012210", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "HP:0010945", - "UPHENO:0080377", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0002786", - "UPHENO:0075893", - "HP:0000079", - "UPHENO:0001478", - "UPHENO:0002598", - "UPHENO:0081792", - "HP:0000126", - "UPHENO:0005597", - "UPHENO:0085194", - "HP:0004097", - "HP:0000025", - "UPHENO:0020950", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "HP:0100871", - "UPHENO:0087427", + "UPHENO:0081547", + "UPHENO:0068511", + "BFO:0000002", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0012072", + "HP:0003110", + "UPHENO:0034391", + "UPHENO:0010763", + "HP:0032943", + "UPHENO:0051191", + "HP:0011036", + "HP:0010967", + "HP:0034359", + "UPHENO:0054299", + "UPHENO:0051635", + "HP:0002157", + "HP:0000002", + "HP:0033354", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0068058", + "UPHENO:0080658", "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "HP:0012243", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0049970", - "UPHENO:0049701", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "UPHENO:0052178", - "UPHENO:0087802", - "UPHENO:0085873", - "UPHENO:0081755", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0050101", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", + "UPHENO:0078554", + "UPHENO:0082943", + "HP:0003646", + "HP:0031980", + "UPHENO:0046362", + "HP:0002900", + "UPHENO:0080556", + "HP:0003155", + "UPHENO:0068495", + "HP:0040156", + "UPHENO:0052008", + "UPHENO:0076299", + "UPHENO:0051670", + "UPHENO:0046286", + "BFO:0000020", + "HP:0011032", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0019970", + "HP:0003355", + "UPHENO:0051930", + "HP:0012252", + "UPHENO:0066943", + "UPHENO:0051709", + "HP:0001992", + "HP:0002086", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0078592", + "UPHENO:0077821", + "UPHENO:0068169", + "HP:0002909", "UPHENO:0002642", "UPHENO:0081423", - "HP:0034057", + "UPHENO:0084541", "UPHENO:0081424", - "UPHENO:0002880", "UPHENO:0075159", - "UPHENO:0000541", + "HP:0012598", + "UPHENO:0087433", + "UPHENO:0076286", + "UPHENO:0080351", + "UPHENO:0020584", + "UPHENO:0050619", + "HP:0003109", + "HP:0001510", + "UPHENO:0004536", + "UPHENO:0049873", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0012541", + "UPHENO:0068247", + "UPHENO:0068565", + "UPHENO:0051801", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "HP:0000117", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0004325", + "HP:0012622", + "UPHENO:0046344", + "UPHENO:0051678", + "HP:0003076", + "UPHENO:0000543", + "UPHENO:0068102", + "HP:0002206", + "PATO:0000001", + "HP:0002088", + "UPHENO:0051766", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0079824", + "HP:0011014", + "UPHENO:0080555", + "HP:0011015", + "HP:0004349", + "HP:0012603", + "UPHENO:0051866", + "UPHENO:0050116", + "HP:0012606", + "HP:0001941", + "HP:0003648", + "UPHENO:0051804", + "HP:0004912", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0051736", + "HP:0012379", + "UPHENO:0051588", + "UPHENO:0049748", + "UPHENO:0082875", + "UPHENO:0034276", + "UPHENO:0068251", + "UPHENO:0024906", + "UPHENO:0034149", + "UPHENO:0051712", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0066781", + "HP:0034684", + "HP:0010932", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0078616", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", + "Proximal renal tubular acidosis", + "Generalized aminoaciduria", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "increased level of purines in independent continuant", + "increased level of uric acid in urine", + "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "abnormal independent continuant hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Hyperchloremic metabolic acidosis", + "Pain", + "Constitutional symptom", + "abnormality of musculoskeletal system physiology", + "abnormal urine potassium atom level", + "Abnormal urine potassium concentration", + "Abnormal circulating fatty-acid concentration", + "abnormal amino acid derivative level", + "abnormal monocarboxylic acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "abnormal carnitine metabolic process", + "Impaired renal tubular reabsorption of phosphate", + "Hyperuricosuria", + "Abnormal circulating enzyme concentration or activity", + "Abnormal renal tubular resorption", + "Rickets", + "Abnormal blood monovalent inorganic cation concentration", + "increased level of organic acid in urine", + "Abnormal blood potassium concentration", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium atom level", + "decreased level of potassium atom in blood", + "abnormal phenotype by ontology source", + "abnormal urine phosphate level", + "Abnormal glucose homeostasis", + "increased level of chemical entity in blood", + "Hyperphosphaturia", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "increased level of phosphate in urine", + "abnormal potassium atom level", + "abnormal skeletal system", + "abnormal renal system process", + "Renal tubular dysfunction", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "decreased level of uric acid in blood", "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", + "Weight loss", + "abnormal kidney", + "increased level of calcium atom in urine", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "Abnormal blood phosphate concentration", + "Bicarbonate-wasting renal tubular acidosis", + "Abnormality of blood and blood-forming tissues", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Decreased anatomical entity mass", + "Bicarbonaturia", + "increased bodily fluid acid level", + "decreased level of phosphate in blood", + "Elevated urinary carboxylic acid", + "Abnormal circulating metabolite concentration", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal role blood level", + "Renal insufficiency", + "Dehydration", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "decreased level of amino-acid betaine", + "Abnormal urine metabolite level", + "abnormal carbohydrate homeostasis", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "Abnormal blood glucose concentration", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "abnormal homeostatic process", + "decreased muscle organ strength", + "decreased role blood level", + "abnormal blood phosphate level", + "increased level of protein polypeptide chain in urine", + "abnormal renal absorption", + "Abnormality of bone mineral density", + "Muscle weakness", + "decreased anatomical entity strength", + "Bone pain", + "Abnormality of the upper urinary tract", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", + "abnormal independent continuant monoatomic ion level", + "abnormal multicellular organism chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "abnormal monoatomic cation homeostasis", + "increased level of potassium atom in urine", "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", - "abnormal cellular component organization", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "decreased level of potassium atom in independent continuant", + "Metabolic acidosis", + "increased level of monosaccharide in urine", + "abnormal anatomical entity", + "Abnormality of urine homeostasis", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "abnormal blood potassium(1+) level", + "Acidosis", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "Abnormal urine protein level", + "Abnormal circulating purine concentration", + "abnormal independent continuant glucose level", + "Reduced bone mineral density", "abnormality of renal system physiology", "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", - "decreased length of manual digit", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", - "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", + "abnormal amino-acid betaine level", "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", + "abnormal independent continuant amino acid level", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "abnormal urine chemical entity level", + "All", + "increased level of phosphate in independent continuant", + "abnormal lung morphology", + "abnormal bone element mass density", + "increased level of calcium atom in independent continuant", + "decreased role independent continuant level", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "increased level of monosaccharide in independent continuant", + "abnormal cell", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "decreased height of the multicellular organism", + "abnormality of muscle organ physiology", + "Growth delay", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "increased level of protein", + "Hypercalciuria", + "abnormal renal system", + "abnormal small molecule metabolic process", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "Low-molecular-weight proteinuria", + "Abnormality of acid-base homeostasis", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "Abnormal circulating nitrogen compound concentration", + "Abnormal blood cation concentration", "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", + "abnormal skeletal system morphology", + "Proteinuria", + "Abnormal cellular physiology", + "increased level of chemical entity", + "abnormal purine nucleobase metabolic process", + "increased level of rac-lactic acid in urine", + "increased independent continuant acid level", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "abnormal independent continuant carbohydrate level", + "Decreased bone element mass density", + "decreased size of the multicellular organism", + "abnormal acid bodily fluid level", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "entity", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", - "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "Short finger", - "thenar eminence hypoplasia", - "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", + "increased level of rac-lactic acid in independent continuant", + "increased level of glucose in independent continuant", + "increased level of organic molecular entity in independent continuant", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "increased level of glucose in urine", + "Abnormal bone ossification", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "abnormal respiratory system morphology", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal protein level", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "increased level of organic acid in independent continuant", + "Aminoaciduria", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "increased level of carboxylic acid in independent continuant", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "increased independent continuant base level", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", + "increased level of nitrogen molecular entity in blood", + "Abnormality of the musculature", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Decreased body weight", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", "abnormal size of multicellular organism", + "abnormal metabolite independent continuant level", "decreased height of the anatomical entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "Abnormality of body height", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", + "abnormally decreased functionality of the anatomical entity", "Short stature", - "decreased size of the multicellular organism", + "decreased anatomical entity mass", + "Growth abnormality", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", + "abnormal anatomical entity morphology in the independent continuant", + "Osteomalacia", + "delayed biological_process", "abnormal growth", - "abnormal cardiovascular system", + "abnormal blood uric acid level", "delayed growth", + "abnormal independent continuant protein polypeptide chain level", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "non-functional kidney", + "Renal phosphate wasting", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "abnormality of anatomical entity mass", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "abnormal calcium atom level", + "abnormal regulation of body fluid levels", + "Abnormal lung morphology", + "abnormal blood nitrogen molecular entity level", + "Abnormal respiratory system morphology", + "lung fibrosis", + "continuant", + "Abnormal circulating nucleobase concentration", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "abnormal urine sodium atom level", + "abnormal independent continuant sodium atom level", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "Abnormal urine sodium concentration", + "non-functional anatomical entity", + "abnormal sodium atom level", + "Hypophosphatemic rickets", + "decreased level of purines", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "Abnormality of fluid regulation", + "abnormal nucleobase metabolic process", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal primary metabolic process", + "Hypouricemia", + "abnormal metabolic process", + "abnormal blood monoatomic ion level", + "decreased level of uric acid in independent continuant", + "Azotemia", + "Hypokalemia", + "Decreased circulating purine concentration", ], - "has_phenotype_count": 15, + "has_phenotype_count": 39, "highlight": None, "score": None, }, { - "id": "MONDO:0013499", + "id": "MONDO:0014985", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", + "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 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 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": [ - "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", + "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:0009777", - "HP:0000957", - "HP:0000252", - "HP:0002860", - "HP:0002984", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001875", + "HP:0000252", + "HP:0001873", + "HP:0005528", + "HP:0006254", "HP:0003221", + "HP:0001903", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", + "Neutropenia", "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", + "Thrombocytopenia", + "Bone marrow hypocellularity", + "Elevated circulating alpha-fetoprotein concentration", "Chromosomal breakage induced by crosslinking agents", + "Anemia", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", ], "has_phenotype_closure": [ - "UPHENO:0002597", - "HP:0000078", - "UPHENO:0003055", - "HP:0000080", - "UPHENO:0053580", - "UPHENO:0050101", - "HP:0012874", - "HP:0000812", - "UPHENO:0081755", - "HP:0000811", - "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0002595", - "UPHENO:0049367", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "UPHENO:0085874", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0005651", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0082875", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0052178", - "UPHENO:0002240", + "UPHENO:0012541", + "UPHENO:0000543", + "HP:0004322", "HP:0000002", - "UPHENO:0080352", - "UPHENO:0081424", + "HP:0001507", + "UPHENO:0068971", + "UPHENO:0081423", + "UPHENO:0088162", + "HP:0001877", + "HP:0001903", + "UPHENO:0088170", "HP:0011017", - "HP:0003221", + "UPHENO:0078606", + "UPHENO:0049587", "UPHENO:0050116", - "HP:0001939", "UPHENO:0050021", + "UPHENO:0050121", "UPHENO:0049990", + "HP:0001510", + "UPHENO:0049873", "UPHENO:0049748", - "UPHENO:0050113", + "HP:0040012", "HP:0003220", - "HP:0000079", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0080382", - "UPHENO:0041629", - "UPHENO:0082129", - "HP:0012210", - "HP:0000085", - "UPHENO:0002332", - "UPHENO:0087427", - "HP:0100542", - "UPHENO:0049940", - "HP:0010935", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "UPHENO:0087430", - "UPHENO:0065599", - "HP:0000436", - "UPHENO:0084715", - "HP:0000414", - "UPHENO:0088168", - "HP:0000086", - "UPHENO:0001072", - "UPHENO:0053298", - "UPHENO:0084727", - "HP:0009381", - "UPHENO:0046624", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076803", - "UPHENO:0083646", - "HP:0034261", - "HP:0004322", - "UPHENO:0002833", - "HP:0009118", - "HP:0011821", - "UPHENO:0046411", - "HP:0000277", - "HP:0025031", - "HP:0000347", - "UPHENO:0081786", - "HP:0000252", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0054567", - "UPHENO:0004523", - "UPHENO:0085873", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0010461", - "UPHENO:0050625", - "HP:0000929", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0087547", - "UPHENO:0088170", - "UPHENO:0001001", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0003026", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0002635", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0088162", - "HP:0000953", - "HP:0025033", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0080377", - "UPHENO:0075195", - "UPHENO:0080662", - "UPHENO:0081435", - "UPHENO:0021791", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "HP:0000032", + "UPHENO:0077826", + "UPHENO:0081547", + "HP:0004364", + "UPHENO:0051801", + "UPHENO:0048751", + "UPHENO:0077821", + "UPHENO:0051680", + "HP:0010876", + "UPHENO:0046284", + "UPHENO:0088318", + "UPHENO:0084928", + "UPHENO:0085195", + "BFO:0000002", + "UPHENO:0085076", + "UPHENO:0077813", + "UPHENO:0085984", + "UPHENO:0085371", + "HP:0032251", + "HP:0020047", + "HP:0011893", + "UPHENO:0049700", + "UPHENO:0085330", "UPHENO:0022529", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0050121", - "HP:0002692", - "UPHENO:0074572", - "UPHENO:0080221", - "HP:0000957", - "UPHENO:0086700", + "UPHENO:0051936", + "UPHENO:0075220", + "UPHENO:0049874", + "UPHENO:0086049", + "BFO:0000001", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085068", + "HP:0001939", + "UPHENO:0088335", + "UPHENO:0050113", + "HP:0000929", + "HP:0005528", + "HP:0032309", + "UPHENO:0080351", "UPHENO:0020584", - "HP:0002813", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0050845", - "UPHENO:0034770", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "HP:0002977", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0088116", - "UPHENO:0054970", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", + "UPHENO:0076799", + "UPHENO:0006910", + "UPHENO:0051804", + "HP:0012639", + "UPHENO:0085144", + "UPHENO:0086045", + "UPHENO:0086016", + "HP:0003221", + "UPHENO:0085356", "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0087501", + "UPHENO:0085302", + "UPHENO:0085344", + "HP:0001881", "HP:0000707", - "UPHENO:0086172", - "HP:0001034", - "HP:0001873", - "UPHENO:0002830", + "UPHENO:0088176", + "UPHENO:0002948", + "UPHENO:0000541", + "UPHENO:0086005", + "HP:0000118", "UPHENO:0076675", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", + "UPHENO:0085042", + "UPHENO:0004523", + "HP:0002715", + "UPHENO:0085118", + "HP:0010974", "HP:0012443", - "UPHENO:0026181", - "UPHENO:0084987", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0030791", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0001871", - "UPHENO:0079876", - "HP:0000118", - "UPHENO:0080165", - "HP:0001172", - "UPHENO:0076724", - "UPHENO:0085195", - "HP:0011961", - "UPHENO:0087006", - "HP:0032039", + "PATO:0000001", + "UPHENO:0004459", + "UPHENO:0076286", "UPHENO:0077426", - "HP:0000240", - "HP:0000077", - "UPHENO:0002905", - "HP:0012733", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0059829", - "BFO:0000020", - "UPHENO:0074589", - "HP:0200007", - "HP:0000153", - "HP:0006265", + "HP:0001871", "UPHENO:0075696", - "HP:0011842", - "UPHENO:0081788", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0026183", - "HP:0040068", - "HP:0031704", - "HP:0040070", - "HP:0005922", - "HP:0001045", - "HP:0009601", - "HP:0001507", - "HP:0045060", - "UPHENO:0076723", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0049700", - "HP:0005927", - "HP:0000125", - "HP:0002817", - "HP:0002984", - "HP:0001876", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", - "HP:0040195", + "HP:0001875", + "UPHENO:0076289", + "UPHENO:0086172", "UPHENO:0001005", - "HP:0009121", + "HP:0000001", + "UPHENO:0077822", + "UPHENO:0086019", "UPHENO:0011498", - "HP:0009777", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0085875", - "HP:0011355", - "HP:0009116", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0006910", - "UPHENO:0002907", - "UPHENO:0074575", - "HP:0002011", - "HP:0012145", - "UPHENO:0084766", - "UPHENO:0050008", - "UPHENO:0087518", - "UPHENO:0008523", - "UPHENO:0050108", - "UPHENO:0041075", - "UPHENO:0085144", - "UPHENO:0076703", - "UPHENO:0002371", - "BFO:0000001", + "UPHENO:0081424", + "HP:0009121", + "UPHENO:0085354", "UPHENO:0088166", - "HP:0040064", - "HP:0001167", - "PATO:0000001", - "UPHENO:0026028", - "HP:0011844", - "UPHENO:0080079", - "HP:0001155", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080200", + "UPHENO:0076703", + "UPHENO:0001003", + "HP:0045056", + "UPHENO:0015280", + "UPHENO:0086176", + "HP:0032180", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0050845", + "HP:0430071", + "HP:0011991", + "BFO:0000020", + "UPHENO:0002536", + "HP:0040195", + "UPHENO:0075195", + "UPHENO:0086173", + "UPHENO:0001001", + "UPHENO:0076791", + "HP:0007364", + "UPHENO:0051668", + "HP:0002977", + "UPHENO:0087907", + "HP:0001911", + "UPHENO:0002764", + "HP:0001874", "UPHENO:0076805", - "HP:0025461", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", - "HP:0011793", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026506", - "HP:0008069", - "UPHENO:0021561", - "UPHENO:0085189", - "HP:0000315", - "UPHENO:0085118", - "UPHENO:0012274", - "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0046753", - "UPHENO:0046538", - "UPHENO:0068971", - "UPHENO:0081204", - "UPHENO:0076761", - "HP:0009821", - "HP:0025354", - "HP:0000366", - "HP:0005773", - "UPHENO:0005597", - "UPHENO:0081792", - "HP:0006503", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0054957", - "UPHENO:0004459", - "HP:0040072", - "UPHENO:0002910", - "UPHENO:0076727", - "UPHENO:0086045", - "UPHENO:0081451", - "UPHENO:0087349", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0081091", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0084928", - "HP:0002973", - "HP:0011121", - "UPHENO:0069294", - "HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0010938", - "HP:0009778", - "HP:0006496", - "UPHENO:0075878", - "UPHENO:0020950", - "UPHENO:0054577", - "HP:0030669", + "HP:0033127", + "UPHENO:0087123", "UPHENO:0087089", - "UPHENO:0003085", - "HP:0002715", - "HP:0008050", + "HP:0011842", + "HP:0000240", + "UPHENO:0086589", + "HP:0012145", + "HP:0002011", + "UPHENO:0088338", + "HP:0000234", "UPHENO:0020888", - "UPHENO:0075997", - "UPHENO:0081314", - "HP:0009826", - "UPHENO:0075198", - "UPHENO:0041821", - "HP:0045025", - "HP:0000271", - "UPHENO:0001002", - "UPHENO:0087924", - "HP:0012745", - "HP:0005105", - "UPHENO:0000541", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0086005", - "UPHENO:0086201", - "HP:0001510", - "UPHENO:0000543", - "UPHENO:0049874", - "UPHENO:0086049", - "UPHENO:0002948", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0075902", - "HP:0001881", - "UPHENO:0009382", - "UPHENO:0085068", + "UPHENO:0069254", + "HP:0002060", + "HP:0000152", + "HP:0010987", + "HP:0000924", + "UPHENO:0081435", + "UPHENO:0080079", + "HP:0001873", + "HP:0000252", + "UPHENO:0087518", + "HP:0100547", + "UPHENO:0046378", + "UPHENO:0002964", + "UPHENO:0001002", + "UPHENO:0002844", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0080200", + "HP:0006254", + "UPHENO:0081566", + "HP:0011873", + "UPHENO:0051612", + "UPHENO:0080352", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0085405", + "HP:0011875", + "UPHENO:0075159", "UPHENO:0087339", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0001872", "UPHENO:0087355", - "UPHENO:0049873", "HP:0005561", - "UPHENO:0084457", - "HP:0000951", - "HP:0000581", - "UPHENO:0002828", - "UPHENO:0081141", - "HP:0011873", - "HP:0020047", - "HP:0011893", - "HP:0032251", - "UPHENO:0085302", - "UPHENO:0085371", - "UPHENO:0085984", - "UPHENO:0086173", - "UPHENO:0069249", - "UPHENO:0080087", - "UPHENO:0076800", - "HP:0031816", - "UPHENO:0080351", - "HP:0009122", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0051763", + "UPHENO:0084987", + "UPHENO:0048707", + "HP:0012130", + "UPHENO:0046362", ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", - "abnormally localised anatomical entity", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "abnormally localised anatomical entity in independent continuant", - "absent sperm in the independent continuant", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively developmental process", - "absent gamete", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "changed developmental process rate", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", + "abnormal growth", "decreased size of the multicellular organism", + "delayed biological_process", + "Growth delay", "abnormality of anatomical entity height", "abnormality of multicellular organism height", + "Abnormality of body height", + "decreased height of the anatomical entity", "abnormal size of multicellular organism", "abnormal nitrogen compound metabolic process", "abnormal organelle organization", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal chromatin organization", + "Abnormality of chromosome stability", "Chromosome breakage", "abnormal programmed DNA elimination by chromosome breakage", "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Pelvic kidney", + "Abnormal erythrocyte morphology", "Abnormal cellular physiology", + "abnormal biological_process", "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Abnormality of the urinary system", - "shape anatomical entity", - "abnormal genitourinary system", - "Abnormality of the kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "shape kidney", - "abnormality of reproductive system physiology", - "absent sperm", - "Horseshoe kidney", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", + "abnormal protein level", + "abnormal independent continuant protein polypeptide chain level", + "abnormal cellular metabolic process", + "increased level of alpha-fetoprotein", + "increased level of chemical entity", + "abnormal blood protein polypeptide chain level", + "abnormal blood nitrogen molecular entity level", + "abnormal role bodily fluid level", + "abnormal blood alpha-fetoprotein level", + "abnormally decreased number of anatomical entity in the independent continuant", + "Neutropenia", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", "abnormal erythrocyte morphology", - "Abnormality of body height", - "abnormal external nose morphology", - "Abnormality of the nose", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "increased size of the anatomical entity in independent continuant", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "abnormal mandible morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "aplasia or hypoplasia of mandible", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "Morphological central nervous system abnormality", - "abnormal facial skeleton morphology", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "aplasia or hypoplasia of telencephalon", - "Decreased head circumference", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of anatomical entity", + "Abnormality of the immune system", + "Abnormal leukocyte count", + "abnormal granulocyte morphology", "delayed growth", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Squamous cell carcinoma", - "abnormal integument", - "abnormal biological_process", - "Hyperpigmentation of the skin", - "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Abnormality of skin pigmentation", - "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Cafe-au-lait spot", - "Macule", + "Decreased head circumference", + "abnormal DNA metabolic process", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormally decreased number of myeloid cell", + "Abnormal circulating alpha-fetoprotein concentration", + "abnormal alpha-fetoprotein level", + "abnormal central nervous system morphology", "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "Short palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal digit", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", + "abnormal immune system", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Abnormal cerebral morphology", + "abnormal independent continuant protein level", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of skull size", + "Abnormality of neutrophils", + "abnormally decreased number of cell in the independent continuant", + "phenotype", + "quality", + "Growth abnormality", + "abnormal cellular process", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "Abnormality of digestive system morphology", - "abnormal limb", - "Abnormal appendicular skeleton morphology", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "Short stature", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal head morphology", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "abnormal neutrophil", + "Abnormal cell morphology", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal cellular component organization", + "specifically dependent continuant", + "Abnormal circulating organic compound concentration", + "abnormal immune system morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "Thrombocytopenia", + "Abnormal forebrain morphology", + "Anemia", + "Abnormality of the head", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype", + "phenotype by ontology source", + "abnormal leukocyte morphology", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal nervous system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic system", + "entity", + "Abnormality of blood and blood-forming tissues", + "abnormal cell morphology", + "abnormal size of skull", + "abnormally decreased number of hematopoietic cell", "abnormal head", - "abnormal location of anatomical entity", - "Hypermelanotic macule", "abnormal bone marrow morphology", - "increased size of the anatomical entity", - "Abnormal nervous system morphology", - "abnormal limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "increased qualitatively biological_process in independent continuant", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "increased biological_process", "abnormal myeloid cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "absent anatomical entity", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", "abnormal forebrain morphology", - "absent germ cell", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "Abnormal ear physiology", "Abnormal myeloid cell morphology", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of skull size", - "abnormal face morphology", - "Limb undergrowth", - "abnormal platelet", - "abnormal reproductive system", - "Abnormality of head or neck", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal phenotype by ontology source", - "absent manual digit", + "abnormally decreased number of leukocyte in the independent continuant", "abnormal anatomical entity morphology in the independent continuant", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "absent digit", - "quality", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormality of the skin", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "abnormal sensory perception", - "abnormal manus", - "Finger aplasia", - "abnormal skull morphology", - "Abnormal platelet morphology", - "mandible hypoplasia", - "phenotype by ontology source", - "aplastic manual digit 1", - "Aplasia/Hypoplasia of the thumb", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "abnormal arm", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "decreased biological_process", - "Short stature", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased length of palpebral fissure", + "Abnormal neutrophil count", "abnormal blood cell", - "abnormal pigmentation", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", + "All", + "continuant", + "abnormal craniocervical region morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular immune system morphology", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal anatomical entity morphology in the brain", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "abnormal telencephalon morphology", + "Abnormal leukocyte morphology", + "abnormal brain morphology", + "Abnormal skull morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "Abnormal circulating metabolite concentration", + "Abnormality of head or neck", + "Morphological central nervous system abnormality", "decreased height of the multicellular organism", - "Short long bone", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Abnormality of the head", - "Neoplasm of the skin", - "decreased length of long bone", - "abnormal radius bone morphology", - "abnormal face", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Aplasia/Hypoplasia of the radius", - "anatomical entity hypoplasia in independent continuant", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "phenotype", - "Abnormal cell morphology", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal reproductive system morphology", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal palpebral fissure", - "abnormally decreased number of cell", - "absent sperm in the semen", - "decreased length of anatomical entity", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "abnormal limb long bone morphology", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "abnormal bone marrow cell", + "abnormal chromatin organization", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Aplasia/Hypoplasia involving the central nervous system", "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "decreased size of the mandible", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased spermatogenesis", - "abnormal kidney morphology", - "decreased width of the palpebral fissure", - "Abnormality of the palpebral fissures", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormal eyelid morphology", - "abnormal hematopoietic system", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal ocular adnexa", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Narrow palpebral fissure", - "decreased height of the anatomical entity", - "Abnormality of the face", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Growth delay", - "abnormal cell", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical enitites of type platelet", + "decreased size of the anatomical entity", + "Abnormal granulocyte count", + "abnormally decreased number of neutrophil", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "Abnormality of the nervous system", + "abnormal erythroid lineage cell morphology", + "increased level of protein", + "abnormal skull morphology", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", "abnormally decreased number of platelet", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type platelet", "abnormal platelet morphology", - "abnormal sensory perception of sound", "Abnormal platelet count", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Pancytopenia", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Anemia", - "abnormal bone marrow cell", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", + "abnormal platelet", "Abnormality of thrombocytes", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Abnormality of the digestive system", - "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "abnormal mouth morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "bone element hypoplasia in face", + "abnormal bone marrow cell morphology", + "Bone marrow hypocellularity", + "Abnormality of bone marrow cell morphology", + "abnormal hematopoietic system morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal independent continuant alpha-fetoprotein level", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "abnormal chemical entity level", + "abnormal role independent continuant level", ], - "has_phenotype_count": 20, + "has_phenotype_count": 8, "highlight": None, "score": None, }, { - "id": "MONDO:0024525", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", + "name": "Fanconi anemia complementation group U", "full_name": None, "deprecated": None, - "description": None, - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], - "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", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", - "HP:0002748", - "HP:0034359", - "HP:0003076", - "HP:0003155", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - ], - "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", - "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", - "UPHENO:0068442", - "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", - "UPHENO:0081777", - "UPHENO:0066927", - "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", + "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:0009777", + "HP:0011835", + "HP:0000252", + "HP:0002984", + "HP:0001510", + "HP:0003974", + "HP:0001643", + "HP:0012799", + "HP:0010035", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Ectopic kidney", + "Absent thumb", + "Absent scaphoid", + "Microcephaly", + "Hypoplasia of the radius", + "Growth delay", + "Absent radius", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal", + ], + "has_phenotype_closure": [ + "HP:0005914", + "HP:0010048", + "HP:0009659", + "HP:0009851", + "UPHENO:0080191", + "HP:0010026", + "HP:0010035", + "HP:0010009", + "UPHENO:0084458", + "HP:0005918", + "UPHENO:0026055", + "UPHENO:0080168", + "UPHENO:0081515", + "HP:0010242", + "UPHENO:0025593", + "UPHENO:0076755", + "HP:0009802", + "UPHENO:0021800", + "HP:0009602", + "UPHENO:0081455", + "HP:0012638", + "UPHENO:0080555", + "UPHENO:0002433", + "UPHENO:0082875", + "UPHENO:0080556", + "HP:0012799", + "UPHENO:0078730", + "UPHENO:0081700", + "UPHENO:0081709", + "HP:0006824", + "UPHENO:0087369", + "HP:0010628", + "UPHENO:0026144", + "UPHENO:0076729", + "HP:0009825", + "HP:0001191", + "HP:0009121", + "HP:0033353", + "HP:0009823", + "UPHENO:0087334", + "HP:0002011", + "UPHENO:0001001", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0080099", + "HP:0007364", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0081511", + "HP:0001155", + "HP:0005922", + "UPHENO:0004508", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0084766", + "UPHENO:0016527", + "UPHENO:0022529", + "UPHENO:0080173", + "UPHENO:0031839", + "HP:0009601", + "HP:0100542", + "HP:0001507", + "UPHENO:0025945", + "UPHENO:0080114", + "UPHENO:0006910", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0003026", + "UPHENO:0011498", + "HP:0004243", + "UPHENO:0002696", "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", + "UPHENO:0087309", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0008523", + "UPHENO:0087518", + "HP:0009380", + "UPHENO:0084448", + "HP:0009824", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "HP:0009658", + "HP:0000924", + "HP:0009834", + "UPHENO:0081435", + "UPHENO:0002830", + "UPHENO:0079870", + "UPHENO:0086700", + "UPHENO:0078606", + "HP:0000001", + "HP:0025354", + "HP:0009821", + "UPHENO:0002973", + "HP:0000301", + "UPHENO:0080126", + "UPHENO:0076799", + "UPHENO:0080187", + "HP:0001939", + "HP:0010827", + "HP:0000271", + "HP:0003019", + "HP:0004231", + "UPHENO:0076727", + "UPHENO:0001003", + "UPHENO:0050121", + "HP:0040070", + "HP:0000707", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0076779", "UPHENO:0002816", - "HP:0001824", - "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", + "UPHENO:0053580", + "UPHENO:0079876", + "UPHENO:0050116", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0021840", "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", - "HP:0002148", - "UPHENO:0050121", - "UPHENO:0046283", - "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", - "HP:0003111", + "UPHENO:0001002", + "HP:0011297", + "UPHENO:0076723", + "UPHENO:0049748", + "HP:0011017", "HP:0000079", - "HP:0004379", - "HP:0004360", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", - "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", - "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", + "HP:0000929", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0002708", + "UPHENO:0084447", + "UPHENO:0002320", + "UPHENO:0050021", + "HP:0045060", + "HP:0001291", + "UPHENO:0053588", + "UPHENO:0081524", + "HP:0006496", + "UPHENO:0009400", + "BFO:0000001", + "UPHENO:0050845", + "UPHENO:0025701", + "BFO:0000020", + "UPHENO:0026028", + "PATO:0000001", + "HP:0000086", + "HP:0003220", + "HP:0001367", + "UPHENO:0081755", + "UPHENO:0081466", + "HP:0040012", + "HP:0002973", + "UPHENO:0087496", + "UPHENO:0076724", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0001510", + "HP:0001172", + "HP:0030962", + "UPHENO:0002961", + "HP:0000118", + "HP:0011804", + "UPHENO:0026506", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0002984", "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0080352", - "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", - "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", - "UPHENO:0068089", - "UPHENO:0051937", - "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", + "UPHENO:0009399", + "UPHENO:0080325", + "UPHENO:0002642", + "HP:0001627", + "UPHENO:0081790", + "UPHENO:0087006", + "UPHENO:0076767", + "UPHENO:0002896", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0012210", + "UPHENO:0049990", + "UPHENO:0075902", + "UPHENO:0080160", + "HP:0002060", + "UPHENO:0026181", + "HP:0005916", + "HP:0006265", + "HP:0006502", "UPHENO:0075696", "HP:0011842", - "HP:0002150", + "UPHENO:0087089", + "UPHENO:0086635", "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", - "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", - "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", - "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", - "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", + "HP:0011805", + "HP:0009777", + "UPHENO:0026023", + "UPHENO:0076702", + "UPHENO:0009382", + "UPHENO:0087186", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0080362", + "UPHENO:0004523", + "HP:0001167", + "HP:0040064", + "HP:0009810", + "UPHENO:0001005", + "HP:0040195", + "HP:0009767", "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", - "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0001992", - "HP:0002086", + "UPHENO:0002908", + "HP:0012443", + "HP:0002977", + "UPHENO:0002764", + "UPHENO:0076805", "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", + "UPHENO:0026128", + "HP:0000152", + "BFO:0000002", + "HP:0012639", + "UPHENO:0020888", + "UPHENO:0003587", + "UPHENO:0075220", + "UPHENO:0076772", + "UPHENO:0080200", + "UPHENO:0012274", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0087907", + "HP:0006501", + "HP:0009826", + "UPHENO:0009341", + "UPHENO:0046538", + "UPHENO:0081204", + "UPHENO:0026001", + "UPHENO:0081792", + "UPHENO:0080164", + "HP:0000234", + "UPHENO:0087018", + "HP:0006503", + "HP:0009815", + "UPHENO:0088186", + "UPHENO:0046505", + "HP:0040072", + "UPHENO:0081521", + "UPHENO:0002910", + "HP:0030319", + "UPHENO:0020041", + "UPHENO:0076710", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", + "HP:0005773", + "HP:0031910", + "UPHENO:0000541", "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", - "UPHENO:0050116", - "HP:0012606", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", - "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", - "UPHENO:0051712", - "UPHENO:0049587", - "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616", - ], - "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", - "Pain", - "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", - "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", + "HP:0003953", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0076703", + "HP:0003974", + "HP:0009822", + "HP:0001626", + "UPHENO:0033572", + "HP:0011835", + "UPHENO:0015324", + "UPHENO:0075655", + "UPHENO:0009338", + "UPHENO:0076765", + "HP:0025015", + "UPHENO:0086797", + "HP:0011603", + "HP:0001643", + "UPHENO:0033603", + "UPHENO:0076810", + "HP:0030680", + "UPHENO:0076776", + "HP:0001324", + "HP:0045010", + "HP:0003011", + "UPHENO:0080083", + "HP:0000252", + "HP:0011799", + "UPHENO:0049874", + "HP:0002597", + "HP:0000759", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0410008", + "HP:0000240", + "UPHENO:0076722", + ], + "has_phenotype_closure_label": [ + "abnormal metacarpal bone of digit 1 morphology", + "Aplasia of the 1st metacarpal", + "aplastic metacarpal bone of digit 1", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "absent metacarpal bone in the metacarpus region", + "aplastic phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "Aplasia of the proximal phalanges of the hand", + "abnormal phalanx morphology", + "Abnormal metacarpal morphology", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "absent metacarpal bone", + "Abnormality of thumb phalanx", + "Aplasia of metacarpal bones", + "aplasia or hypoplasia of metacarpal bone", + "aplasia or hypoplasia of phalanx of manus", + "Abnormality of the face", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "abnormal cranial nerve morphology", + "Abnormal skeletal muscle morphology", + "paralysed cranial nerve", + "absent carpal bone in the independent continuant", + "quality", + "abnormal skeletal joint morphology in the pectoral complex", + "Carpal bone aplasia", + "Abnormal joint morphology", + "Abnormal 1st metacarpal morphology", + "Aplasia/Hypoplasia involving the carpal bones", + "abnormal radiale", + "Abnormality of the urinary system", "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", + "abnormal manual digit morphology in the independent continuant", + "Absent scaphoid", + "aplastic carpal bone", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal manual digit 1 morphology", + "paralysed anatomical entity", "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", - "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", + "absent anatomical entity in the independent continuant", + "Abnormal axial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "abnormal anatomical entity morphology in the manus", + "Short long bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormally localised kidney", + "abnormal metacarpal bone morphology", + "Abnormality of limb bone", + "absent anatomical entity in the skeletal system", + "abnormal autopod region morphology", + "Absent thumb", + "Aplasia/Hypoplasia of the phalanges of the hand", + "aplastic anatomical entity", + "abnormal vasculature", + "Abnormal digit morphology", + "Abnormality of the musculoskeletal system", + "Aplasia/Hypoplasia of fingers", + "Abnormal finger morphology", + "Abnormal thumb morphology", "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", - "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", - "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", - "abnormal homeostatic process", - "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", - "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", - "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", - "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", - "Abnormality of urine homeostasis", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "Abnormality of facial soft tissue", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal skeletal joint morphology in the independent continuant", + "abnormal brain morphology", + "absent metacarpal bone in the independent continuant", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormal forebrain morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "Phenotypic abnormality", + "Aplasia/Hypoplasia of the thumb", "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", - "abnormality of renal system physiology", - "quality", - "abnormal amino-acid betaine level", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", - "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", + "absent digit", + "Absent forearm bone", + "aplasia or hypoplasia of manual digit", + "absent anatomical entity in the metacarpus region", + "abnormal nitrogen compound metabolic process", + "Abnormality of the hand", + "abnormal peripheral nervous system", + "Aplasia/hypoplasia involving bones of the extremities", + "aplastic manual digit 1 phalanx", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Abnormality of the skeletal system", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal kidney morphology", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "abnormal renal system morphology", + "abnormal location of anatomical entity", + "abnormal forelimb morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "Abnormal proximal phalanx morphology of the hand", + "Finger aplasia", + "continuant", + "abnormal craniocervical region morphology", + "abnormal limb", "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", + "absent radiale", + "abnormal peripheral nervous system morphology", + "Abnormal cranial nerve morphology", + "absent anatomical entity in the multicellular organism", + "Abnormality of metabolism/homeostasis", + "abnormal organelle organization", + "Abnormality of the musculature", + "abnormal digit", + "abnormal nerve", + "absent manual digit", + "abnormal phenotype by ontology source", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal limb morphology", + "abnormal primary metabolic process", + "abnormal coronary vessel morphology", + "bone element hypoplasia in independent continuant", + "Unilateral facial palsy", + "Patent ductus arteriosus", + "abnormal carpal region", + "Abnormal upper limb bone morphology", + "agenesis of anatomical entity", + "Abnormality of the scaphoid", + "abnormal manus morphology", + "abnormal cellular process", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal cell", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", + "abnormal proximal phalanx of manus morphology", + "Ectopic kidney", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal carpal bone morphology", "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", + "Abnormal long bone morphology", + "abnormal ductus arteriosus morphology", + "Upper limb undergrowth", + "Abnormality of the upper urinary tract", + "absent forelimb zeugopod bone", + "Partial absence of thumb", + "decreased anatomical entity strength", + "abnormal forebrain morphology", + "Abnormal cranial nerve physiology", + "abnormal skull morphology", + "abnormal anatomical entity topology in independent continuant", + "Growth delay", + "abnormality of muscle organ physiology", "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", + "All", + "Aplasia involving bones of the extremities", + "Abnormality of the wrist", + "Growth abnormality", + "Abnormal localization of kidney", + "absent anatomical entity", + "abnormally localised anatomical entity in independent continuant", "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", - "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", + "Abnormal appendicular skeleton morphology", + "abnormally localised anatomical entity", + "Abnormal blood vessel morphology", + "absent carpal bone in the limb", + "abnormal limb bone morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "decreased length of anatomical entity", + "Muscle weakness", + "Abnormal carpal morphology", + "Abnormality of upper limb joint", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "abnormal carpal bone", + "abnormal axial skeleton plus cranial skeleton morphology", "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", + "abnormal anatomical entity morphology in the brain", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "aplasia or hypoplasia of carpal bone", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "Aplasia/Hypoplasia involving the metacarpal bones", "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", + "decreased muscle organ strength", + "Abnormality of skull size", + "abnormal head morphology", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skull morphology", + "absent radius bone in the independent continuant", + "abnormal blood vessel morphology", + "abnormal incomplete closing of the anatomical entity", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of brain morphology", + "Abnormality of head or neck", + "abnormal skeletal joint morphology", + "Morphological central nervous system abnormality", + "Aplasia involving forearm bones", + "abnormal head", + "abnormal nervous system morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "abnormal long bone morphology", + "Abnormality of the head", + "Abnormality of the nervous system", + "Limb undergrowth", + "decreased length of long bone", + "abnormal radius bone morphology", + "abnormal face", + "Aplasia/Hypoplasia of the radius", + "abnormal artery morphology in the independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Abnormal heart morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal forelimb zeugopod bone", + "Short forearm", "delayed biological_process", - "abnormal growth", - "abnormal blood uric acid level", + "Aplasia involving bones of the upper limbs", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "aplasia or hypoplasia of radius bone", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "Absent radius", + "absent radius bone in the forelimb", + "anatomical entity hypoplasia", + "absent radius bone", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "abnormal opening of the anatomical entity", + "abnormal phalanx of manus morphology", + "abnormal cardiovascular system morphology", + "Abnormal vascular morphology", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "abnormal heart morphology", + "abnormal vascular system morphology", "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", + "abnormal cardiovascular system", + "Abnormal hand morphology", + "Abnormal morphology of the great vessels", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Aplasia of the phalanges of the hand", + "abnormal systemic artery morphology", + "Congenital malformation of the great arteries", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "Hypokalemia", - "Decreased circulating purine concentration", + "abnormal bone of pectoral complex morphology", + "Abnormality of cardiovascular system morphology", + "abnormal great vessel of heart morphology", + "Facial palsy", + "aplasia or hypoplasia of proximal phalanx of manus", + "Abnormality of facial musculature", + "abnormal growth", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormal nervous system physiology", + "abnormal artery morphology", + "abnormality of anatomical entity physiology", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "abnormal cellular component organization", + "Abnormality of the peripheral nervous system", + "abnormal muscle organ morphology", + "abnormal facial nerve", + "abnormal nervous system", + "abnormal musculature", + "Aplasia/hypoplasia involving forearm bones", + "abnormal facial muscle", ], - "has_phenotype_count": 39, + "has_phenotype_count": 11, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/autocomplete_query.py b/backend/tests/fixtures/autocomplete_query.py index 95ab536c1..69bdd5bf1 100644 --- a/backend/tests/fixtures/autocomplete_query.py +++ b/backend/tests/fixtures/autocomplete_query.py @@ -16,6 +16,6 @@ def autocomplete_query(): "def_type": "edismax", "q_op": "AND", "mm": "100%", - "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:PhenotypicFeature"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', + "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:Disease"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', "sort": None, } diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py index d21f695c3..bdf1ed258 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", @@ -14,7 +14,7 @@ def autocomplete_response(): "qf": "id^100 name^10 name_t^5 name_ac symbol^10 symbol_t^5 symbol_ac synonym synonym_t synonym_ac", "start": "0", "q.op": "AND", - "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:PhenotypicFeature"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', + "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:Disease"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', "rows": "10", "facet": "true", }, @@ -23,17 +23,6 @@ def autocomplete_response(): "num_found": 218, "start": 0, "docs": [ - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], - "provided_by": "phenio_nodes", - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], - "namespace": "HP", - "has_phenotype_count": 0, - }, { "id": "MONDO:0009215", "category": "biolink:Disease", @@ -5420,5013 +5409,3375 @@ def autocomplete_response(): ], }, { - "id": "HGNC:26144", - "category": "biolink:Gene", - "name": "PALB2", - "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], - "provided_by": "hgnc_gene_nodes", - "synonym": ["FLJ21816", "FANCN", "Fanconi anemia, complementation group N"], - "full_name": "partner and localizer of BRCA2", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": "Homo sapiens", - "symbol": "PALB2", - "namespace": "HGNC", + "id": "MONDO:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "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", + "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:0000086", - "HP:0000582", - "HP:0000470", - "HP:0000483", - "HP:0000377", - "HP:0000238", + "HP:0040012", "HP:0009777", - "HP:0100615", - "HP:0010469", - "HP:0002017", - "HP:0002575", - "HP:0001249", - "HP:0001882", - "HP:0000508", - "HP:0001824", - "HP:0001824", - "HP:0000518", - "HP:0030406", - "HP:0000453", - "HP:0012432", - "HP:0005344", - "HP:0007874", - "HP:0002861", - "HP:0002861", - "HP:0000252", - "HP:0000252", - "HP:0008053", - "HP:0000952", - "HP:0000957", - "HP:0040071", - "HP:0100026", - "HP:0004396", - "HP:0012639", - "HP:0100587", - "HP:0002023", + "HP:0001627", "HP:0002023", - "HP:0001433", - "HP:0002650", - "HP:0002667", - "HP:0000047", - "HP:0001738", "HP:0002984", - "HP:0000316", - "HP:0000316", - "HP:0002910", - "HP:0002863", - "HP:0000864", - "HP:0004808", - "HP:0002254", - "HP:0002119", - "HP:0000027", - "HP:0001392", - "HP:0001562", - "HP:0001510", - "HP:0001873", - "HP:0001871", - "HP:0000568", - "HP:0000568", - "HP:0000504", - "HP:0000505", - "HP:0000520", - "HP:0006725", - "HP:0001760", - "HP:0001763", - "HP:0001770", - "HP:0000492", - "HP:0000478", - "HP:0000486", - "HP:0001631", - "HP:0001631", - "HP:0001636", - "HP:0001639", - "HP:0001629", - "HP:0000324", - "HP:0001643", - "HP:0001646", - "HP:0000347", - "HP:0001679", - "HP:0000340", - "HP:0001671", - "HP:0012334", - "HP:0000364", - "HP:0000365", - "HP:0005249", - "HP:0011027", - "HP:0006501", - "HP:0001511", - "HP:0001518", - "HP:0001537", - "HP:0002885", - "HP:0002894", - "HP:0000218", - "HP:0012210", - "HP:0002896", - "HP:0002823", - "HP:0002827", - "HP:0002817", - "HP:0000268", - "HP:0000286", - "HP:0000286", - "HP:0000953", - "HP:0003221", - "HP:0003220", - "HP:0010293", - "HP:0000813", - "HP:0000819", - "HP:0012745", - "HP:0004349", - "HP:0003022", - "HP:0003006", - "HP:0004389", - "HP:0003003", - "HP:0003002", - "HP:0003002", - "HP:0003002", - "HP:0004322", - "HP:0001915", - "HP:0001903", - "HP:0000639", - "HP:0006824", - "HP:0005522", - "HP:0004209", - "HP:0009778", - "HP:0001000", - "HP:0001053", - "HP:0100760", - "HP:0002251", - "HP:0003577", - "HP:0002245", - "HP:0003418", - "HP:0100592", - "HP:0002039", - "HP:0100542", - "HP:0002007", - "HP:0002027", - "HP:0002716", - "HP:0000125", - "HP:0000130", - "HP:0000122", - "HP:0006265", - "HP:0000135", - "HP:0012125", - "HP:0000175", - "HP:0000006", - "HP:0000007", - "HP:0000010", - "HP:0002664", - "HP:0008897", - "HP:0007565", + "HP:0000126", "HP:0000028", - "HP:0000035", - "HP:0001347", - "HP:0025318", - "HP:0012041", - "HP:0000072", - "HP:0000079", - "HP:0000085", - "HP:0000083", - "HP:0008678", - "HP:0100867", - "HP:0007400", - "HP:0006101", - "HP:0001263", - "HP:0002414", - "HP:0001199", - "HP:0001172", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0001245", + "HP:0003774", + "HP:0025023", ], "has_phenotype_label": [ - "Ectopic kidney", - "Upslanted palpebral fissure", - "Short neck", - "Astigmatism", - "Abnormal pinna morphology", - "Hydrocephalus", + "Chromosome breakage", "Absent thumb", - "Ovarian neoplasm", - "Absent testis", - "Nausea and vomiting", - "Tracheoesophageal fistula", - "Intellectual disability", - "Leukopenia", - "Ptosis", - "Weight loss", - "Weight loss", - "Cataract", - "Primary peritoneal carcinoma", - "Choanal atresia", - "Chronic fatigue", - "Abnormal carotid artery morphology", - "Almond-shaped palpebral fissure", - "Melanoma", - "Melanoma", - "Microcephaly", - "Microcephaly", - "Aplasia/Hypoplasia of the iris", - "Jaundice", - "Cafe-au-lait spot", - "Abnormal morphology of ulna", - "Arteriovenous malformation", - "Poor appetite", - "Abnormal nervous system morphology", - "Abnormal preputium morphology", - "Anal atresia", + "Abnormal heart morphology", "Anal atresia", - "Hepatosplenomegaly", - "Scoliosis", - "Nephroblastoma", - "Hypospadias", - "Exocrine pancreatic insufficiency", "Hypoplasia of the radius", - "Hypertelorism", - "Hypertelorism", - "Elevated hepatic transaminase", - "Myelodysplasia", - "Abnormality of the hypothalamus-pituitary axis", - "Acute myeloid leukemia", - "Intermittent diarrhea", - "Ventriculomegaly", - "Azoospermia", - "Abnormality of the liver", - "Oligohydramnios", - "Growth delay", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Microphthalmia", - "Microphthalmia", - "Abnormality of vision", - "Visual impairment", - "Proptosis", - "Pancreatic adenocarcinoma", - "Abnormal foot morphology", - "Pes planus", - "Toe syndactyly", - "Abnormal eyelid morphology", - "Abnormality of the eye", - "Strabismus", - "Atrial septal defect", - "Atrial septal defect", - "Tetralogy of Fallot", - "Hypertrophic cardiomyopathy", - "Ventricular septal defect", - "Facial asymmetry", - "Patent ductus arteriosus", - "Abnormal aortic valve morphology", - "Micrognathia", - "Abnormal aortic morphology", - "Sloping forehead", - "Abnormal cardiac septum morphology", - "Extrahepatic cholestasis", - "Hearing abnormality", - "Hearing impairment", - "Functional intestinal obstruction", - "Abnormal fallopian tube morphology", - "Aplasia/Hypoplasia of the radius", - "Intrauterine growth retardation", - "Small for gestational age", - "Umbilical hernia", - "Medulloblastoma", - "Neoplasm of the pancreas", - "High palate", - "Abnormal renal morphology", - "Neoplasm of the liver", - "Abnormality of femur morphology", - "Hip dislocation", - "Abnormality of the upper limb", - "Dolichocephaly", - "Epicanthus", - "Epicanthus", - "Hyperpigmentation of the skin", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", - "Aplasia/Hypoplasia of the uvula", - "Bicornuate uterus", - "Diabetes mellitus", - "Short palpebral fissure", - "Reduced bone mineral density", - "Hypoplasia of the ulna", - "Neuroblastoma", - "Intestinal pseudo-obstruction", - "Colon cancer", - "Breast carcinoma", - "Breast carcinoma", - "Breast carcinoma", - "Short stature", - "Aplastic anemia", - "Anemia", - "Nystagmus", - "Cranial nerve paralysis", - "Pyridoxine-responsive sideroblastic anemia", - "Clinodactyly of the 5th finger", + "Hydronephrosis", + "Cryptorchidism", "Short thumb", - "Abnormality of skin pigmentation", - "Hypopigmented skin patches", - "Clubbing of toes", - "Aganglionic megacolon", - "Congenital onset", - "Meckel diverticulum", - "Back pain", - "Peritoneal abscess", - "Anorexia", - "Abnormal localization of kidney", - "Frontal bossing", - "Abdominal pain", - "Lymphadenopathy", - "Pelvic kidney", - "Abnormality of the uterus", - "Unilateral renal agenesis", - "Aplasia/Hypoplasia of fingers", - "Hypogonadism", - "Prostate cancer", - "Cleft palate", - "Autosomal dominant inheritance", - "Autosomal recessive inheritance", - "Recurrent urinary tract infections", - "Neoplasm", - "Postnatal growth retardation", - "Multiple cafe-au-lait spots", - "Cryptorchidism", - "Abnormal testis morphology", - "Hyperreflexia", - "Ovarian carcinoma", - "Decreased fertility in males", - "Hydroureter", - "Abnormality of the urinary system", - "Horseshoe kidney", - "Renal insufficiency", - "Renal hypoplasia/aplasia", - "Duodenal stenosis", - "Irregular hyperpigmentation", - "Finger syndactyly", - "Global developmental delay", - "Spina bifida", - "Triphalangeal thumb", - "Abnormal thumb morphology", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia", ], - "has_phenotype_count": 156, + "has_phenotype_count": 15, "has_phenotype_closure": [ - "HP:0005918", - "UPHENO:0021800", - "HP:0010301", - "UPHENO:0087665", - "UPHENO:0088123", - "UPHENO:0051003", - "UPHENO:0087858", - "HP:0045005", - "HP:0410043", - "UPHENO:0076707", - "HP:0003468", - "HP:0002414", - "UPHENO:0076744", - "UPHENO:0051077", - "HP:0012758", - "UPHENO:0078215", - "UPHENO:0078288", - "UPHENO:0078267", - "HP:0006101", - "HP:0100867", 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"UPHENO:0049874", + "UPHENO:0069254", + "UPHENO:0000543", + "HP:0009826", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0087510", "UPHENO:0081313", - "HP:0008062", - "UPHENO:0012274", - "HP:0001872", - "HP:0001738", - "UPHENO:0068971", - "HP:0012092", - "HP:0025668", - "UPHENO:0085873", - "HP:0000795", - "HP:0010936", - "UPHENO:0075774", - "UPHENO:0079828", - "UPHENO:0087530", - "HP:0002650", - "UPHENO:0076722", - "UPHENO:0019492", - "UPHENO:0077855", - "HP:0045060", - "UPHENO:0087974", - "HP:0001010", - "UPHENO:0086735", - "HP:0001629", - "HP:0003271", - "UPHENO:0065599", - "HP:0200005", - "HP:0410042", - "UPHENO:0002700", - "HP:0040068", - "UPHENO:0050622", - "UPHENO:0002819", - "UPHENO:0001005", - "UPHENO:0050620", - "HP:0001743", - "UPHENO:0087349", - "UPHENO:0046538", - "HP:0001744", - "HP:0002667", - "UPHENO:0087022", - "HP:0031071", - "UPHENO:0087910", - "UPHENO:0087376", - "HP:0001881", - "UPHENO:0041212", - "UPHENO:0086797", - "HP:0002023", - "UPHENO:0078606", - 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"UPHENO:0080377", - "HP:0002007", - "UPHENO:0056237", + "HP:0012243", "UPHENO:0087846", - "HP:0025354", - "HP:0001646", + "UPHENO:0075949", + "HP:0012874", "UPHENO:0049970", - "HP:0034684", - "HP:0001627", - "UPHENO:0003053", - "UPHENO:0087100", - "UPHENO:0082444", - "UPHENO:0002371", "UPHENO:0049701", "UPHENO:0078729", - "UPHENO:0041226", + "UPHENO:0049985", + "UPHENO:0080369", "UPHENO:0086023", - "HP:0001167", - "HP:0001510", - "UPHENO:0080209", + "UPHENO:0052178", "UPHENO:0087802", - "HP:0000234", - "HP:0000324", - "UPHENO:0049587", - "UPHENO:0085144", - "UPHENO:0026183", - "HP:0001999", - "UPHENO:0087894", - "HP:0025031", - "UPHENO:0080352", - "HP:0034930", - "HP:0410014", - "HP:0031653", - "HP:0009826", - "UPHENO:0081204", - "HP:0009726", - "HP:0200007", - "HP:0009821", - "UPHENO:0081792", - "UPHENO:0088170", - "HP:0006503", - "UPHENO:0080187", - "HP:0002623", - "HP:0031654", - "HP:0002984", - "UPHENO:0081091", - "UPHENO:0087547", - "UPHENO:0080165", - "HP:0002814", - "UPHENO:0079876", - "UPHENO:0072194", - "UPHENO:0059929", - "UPHENO:0055730", - "UPHENO:0078347", - "HP:0000125", - "HP:0001939", - "UPHENO:0050845", - "HP:0012379", - "HP:0004322", - "HP:0030791", - "UPHENO:0002844", - "UPHENO:0075995", - "UPHENO:0075175", - "HP:0002488", - "HP:0004325", - "UPHENO:0041203", - "HP:0002254", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0002014", + "UPHENO:0085873", + "UPHENO:0081755", "UPHENO:0087006", - "HP:0002119", - "UPHENO:0076761", - "UPHENO:0086680", - "UPHENO:0001440", + "HP:0011961", + "UPHENO:0050101", + "UPHENO:0082875", + "UPHENO:0046707", "HP:0000080", - "UPHENO:0075852", - "HP:0001562", - "HP:0002827", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0000541", - "HP:0002031", - "HP:0001373", - "UPHENO:0000543", - "HP:0030065", - "UPHENO:0087510", - "UPHENO:0086005", - "UPHENO:0085189", - "UPHENO:0085195", - "HP:0025028", - "UPHENO:0085068", - "UPHENO:0002261", - "HP:0025461", - "UPHENO:0084987", - "UPHENO:0082682", - "HP:0000309", - "HP:0020047", - "UPHENO:0085070", - "UPHENO:0086049", - "UPHENO:0085118", - "UPHENO:0086173", - "HP:0030061", - "UPHENO:0050433", - "UPHENO:0075219", - "HP:0000568", - "UPHENO:0050236", - "UPHENO:0052164", - "UPHENO:0020748", - "UPHENO:0081584", - "HP:0000520", - "UPHENO:0085881", - "UPHENO:0050113", - "HP:0033019", "UPHENO:0087973", - "HP:0006725", - "UPHENO:0086628", - "UPHENO:0018424", - "HP:0001924", - "UPHENO:0081575", - "UPHENO:0041369", - "UPHENO:0002907", - "HP:0011994", - "UPHENO:0082356", - "HP:0001631", - "UPHENO:0041565", - "UPHENO:0080393", - "UPHENO:0082671", - "UPHENO:0087339", - "UPHENO:0078179", - "UPHENO:0080585", - "UPHENO:0078125", - "HP:0010674", - "UPHENO:0002443", - "HP:0001217", - "UPHENO:0078375", - "HP:0001159", - "UPHENO:0049622", - "UPHENO:0049586", - "HP:0000549", - "HP:0000486", - "HP:0000496", - "HP:0001732", - "UPHENO:0082794", - "UPHENO:0033559", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UPHENO:0075655", - "HP:0005120", - "UPHENO:0086863", - "HP:0001707", - "UPHENO:0087612", - "UPHENO:0082454", - "HP:0001679", - "HP:0002086", - "UPHENO:0076765", - "HP:0002683", - "UPHENO:0084715", - "HP:0011603", - "HP:0009381", - "HP:0011121", - "UPHENO:0066927", - "UPHENO:0084511", - "UPHENO:0086144", - "UPHENO:0015327", - "UPHENO:0084482", - "HP:0001199", - "UPHENO:0076779", - "UPHENO:0000996", - "HP:0001654", - "HP:0001714", - "HP:0011545", - "HP:0010161", - "UPHENO:0015317", - "UPHENO:0086858", - "HP:0000347", - "UPHENO:0015319", - "UPHENO:0076809", - "UPHENO:0041053", - "HP:0030962", - "UPHENO:0077800", - "HP:0001638", - "UPHENO:0020809", - "UPHENO:0084729", - "UPHENO:0021791", - "HP:5200241", - "UPHENO:0084734", - "UPHENO:0087018", - "UPHENO:0015290", - "UPHENO:0033603", - "UPHENO:0080387", - "HP:0012130", - "HP:0002585", - "UPHENO:0087309", - "HP:0001643", - "HP:0000069", - "UPHENO:0087070", - "UPHENO:0076743", - "UPHENO:0081141", - "UPHENO:0046707", - "UPHENO:0088116", - "HP:0009116", - "HP:0100273", - "HP:0012531", - "HP:0001763", - "UPHENO:0086978", - "HP:0011873", - "UPHENO:0081788", - "HP:0031816", - "HP:0000153", - "HP:0100491", - "HP:0100887", - "UPHENO:0051267", - "HP:0000464", - "HP:0002692", - "UPHENO:0083646", - "UPHENO:0041083", - "HP:0000290", - "UPHENO:0082900", - "UPHENO:0002471", - "UPHENO:0086088", - "UPHENO:0078622", - "UPHENO:0041151", - "UPHENO:0086198", - "UPHENO:0087531", - "UPHENO:0005518", - "UPHENO:0081594", - "UPHENO:0052231", - "HP:0011794", - "UPHENO:0052970", - "HP:0000365", - "HP:0000708", - "HP:0004808", - "HP:0005249", - "UPHENO:0050625", - "HP:0009122", - "UPHENO:0050696", - "HP:0030060", - "HP:0100627", - "UPHENO:0019888", - "UPHENO:0005642", - "UPHENO:0076810", - "UPHENO:0081436", - "UPHENO:0002751", - "HP:0000340", - "UPHENO:0077877", - "HP:0001384", - "UPHENO:0033616", - "HP:0030680", - "UPHENO:0075684", - "HP:0003549", - "HP:0001537", - "HP:0004298", - "UPHENO:0086122", - "UPHENO:0084447", - "HP:0010935", - "HP:0012432", - "HP:0100790", - "HP:0010866", - "HP:0030895", - "UPHENO:0076794", - "HP:0011355", - "HP:0100836", - "HP:0004375", - "HP:0000163", - "HP:0000218", - "UPHENO:0086824", - "UPHENO:0034110", - "UPHENO:0076786", - "HP:0000005", - "HP:0009380", - "UPHENO:0087232", - "HP:0002896", - "UPHENO:0002896", - "HP:0001639", - "UPHENO:0076806", - "HP:0040069", - "UPHENO:0020967", - "UPHENO:0087558", - "UPHENO:0079871", - "UPHENO:0002813", - "HP:0000504", - "UPHENO:0087980", - "UPHENO:0075945", - "HP:0001903", - "UPHENO:0076767", - "UPHENO:0075159", - "HP:0000316", - "UPHENO:0052675", - "UPHENO:0001001", - "UPHENO:0087892", - "HP:0000122", - "HP:0012337", - "UPHENO:0086091", - "HP:0002644", - "HP:0004796", - "UPHENO:0075148", - "HP:0000268", - "HP:0003003", - "UPHENO:0031839", - "HP:0040194", - "UPHENO:0080602", - "UPHENO:0001208", - "HP:0009118", - "HP:0000286", - "UPHENO:0087058", - "HP:0011458", - "UPHENO:0087928", - "HP:0003312", - "UPHENO:0050034", - "UPHENO:0087307", - "HP:0003220", - "UPHENO:0085876", - "UPHENO:0049700", - "UPHENO:0049873", - "UPHENO:0049990", - "HP:0004389", - "HP:0002597", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0020041", - "HP:0011017", - "UPHENO:0041644", - "UPHENO:0087214", - "UPHENO:0081570", - "UPHENO:0088088", - "UPHENO:0021823", - "UPHENO:0075843", - "HP:0000172", - "UPHENO:0076748", - "UPHENO:0041821", - "HP:0100542", - "HP:0000813", - "HP:0000130", - "UPHENO:0086817", - "UPHENO:0041664", - "UPHENO:0041395", - "UPHENO:0080369", - "HP:0011014", - "HP:0001952", - "UPHENO:0069523", - "UPHENO:0076791", - "UPHENO:0033604", - "HP:0001053", - "HP:0012243", - "UPHENO:0081605", - "UPHENO:0049628", - "HP:0100760", - "UPHENO:0087907", - "UPHENO:0046753", - "HP:0012745", - "UPHENO:0063513", - "HP:0002039", - "HP:0002715", - "HP:0004348", - "UPHENO:0082835", - "HP:0004349", - "HP:0011849", - "HP:0003006", - "HP:0007565", - "HP:0030063", - "UPHENO:0001042", - "UPHENO:0049985", - "HP:0030067", - "HP:0004376", - "HP:0000104", - "UPHENO:0076783", - "UPHENO:0042775", - "UPHENO:0077872", - "HP:0100834", - "HP:0005927", - "HP:0008373", - "HP:0002579", - "UPHENO:0076773", - "HP:0004209", - "HP:0003002", - "HP:0011354", - "UPHENO:0077885", - "UPHENO:0087481", - "UPHENO:0054299", - "UPHENO:0054261", - "UPHENO:0003013", - "HP:0000765", - "HP:0001263", - "UPHENO:0005982", - "UPHENO:0002931", - "UPHENO:0081424", - "UPHENO:0080351", - "HP:0012145", - "HP:0001915", - "UPHENO:0003074", - "HP:0001877", - "UPHENO:0088162", - "HP:0011821", - "HP:0012547", - "UPHENO:0050613", - "HP:0011389", - "HP:0007670", - "HP:0031105", - "UPHENO:0078736", "HP:0000035", - "HP:0001751", - "UPHENO:0079837", - "HP:0100022", - "UPHENO:0079833", - "HP:0045010", - "HP:0001642", - "HP:0006501", - "UPHENO:0005116", - "HP:0031910", - "UPHENO:0002708", - "HP:0006824", - "UPHENO:0053298", - "UPHENO:0081709", - "HP:0009484", - "HP:0005522", - "HP:0010786", - "UPHENO:0076736", - "HP:0009179", - "HP:0011446", - "HP:0030084", - "UPHENO:0053580", - "UPHENO:0069293", - "HP:0040019", - "HP:0000377", - "HP:0004097", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "HP:0011927", + "HP:0012622", + "HP:0000078", + "HP:0006496", "HP:0009778", - "HP:0011027", - "UPHENO:0046411", - "UPHENO:0077892", - "UPHENO:0002964", - "UPHENO:0088140", - "UPHENO:0087369", - "HP:0002270", - "UPHENO:0087355", - "HP:0410015", - "HP:0003319", - "HP:0012331", - "UPHENO:0081451", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0087602", - "UPHENO:0087121", - "UPHENO:0005852", - "UPHENO:0087933", - "HP:0000525", - "UPHENO:0088183", - "HP:0001000", - "UPHENO:0021045", - "HP:0003674", - "UPHENO:0081423", - "HP:0012823", - "UPHENO:0081790", - "HP:0031797", - "UPHENO:0021038", - "UPHENO:0086612", - "UPHENO:0056072", - "UPHENO:0050121", - "HP:0001549", - "UPHENO:0019477", - "HP:0100587", - "UPHENO:0079835", - "UPHENO:0042834", - "UPHENO:0072195", - "UPHENO:0080595", - "UPHENO:0041041", - "UPHENO:0082905", - "UPHENO:0002219", - "HP:0011218", - "UPHENO:0055092", - "UPHENO:0005994", - "UPHENO:0084465", - "HP:0000952", - "HP:0430000", - "HP:0002027", - "HP:0002716", - "UPHENO:0080221", - "UPHENO:0083530", - "HP:0002733", - "UPHENO:0075161", - "HP:0008678", + "HP:0009623", + "UPHENO:0050108", + "HP:0000107", + "HP:0001446", + "UPHENO:0084841", + "HP:0009484", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081423", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0000541", ], "has_phenotype_closure_label": [ - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", - "Abnormality of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormal form of the vertebral bodies", - "Neural tube defect", - "abnormal embryonic tissue morphology", - "Abnormal neural tube morphology", - "abnormal vertebra morphology", - "abnormal arch of centrum of vertebra", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "Spina bifida", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal spinal cord morphology", - "Neurodevelopmental delay", - "abnormally fused manual digit and manual digit", - "abnormally fused manual digit and anatomical entity", - "Small intestinal stenosis", - "abnormal duodenum morphology", + "Abnormal intestine morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal rectum", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormality of the gastrointestinal tract", + "Rectal atresia", + "Anorectal anomaly", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "Morphological abnormality of the gastrointestinal tract", + "rectum atresia", + "alimentary part of gastrointestinal system atresia", + "Chronic kidney disease", "Renal insufficiency", - "Abnormal vertebral morphology", - "non-functional anatomical entity", - "Abnormal renal physiology", - "shape kidney", - "Hypoplasia of the radius", - "Functional abnormality of the gastrointestinal tract", - "Recurrent urinary tract infections", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "Short long bone", - "anus atresia", - "abnormal skull morphology", - "abnormal tube formation", - "abnormal palpebral fissure", - "Aplasia/hypoplasia involving forearm bones", - "Short forearm", - "sloped forehead", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "decreased length of long bone", - "curved anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Abnormal ureter morphology", - "abnormality of exocrine pancreas physiology", - "delayed biological_process", - "abnormality of gland physiology", - "Exocrine pancreatic insufficiency", - "abnormal size of brain ventricle", - "Frontal bossing", - "abnormal urethra", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "Renal neoplasm", - "Abnormal prostate morphology", - "Scoliosis", - "abnormal cardiac atrium morphology", - "Abnormal curvature of the vertebral column", - "Hepatosplenomegaly", - "abnormal biological_process in independent continuant", + "Intestinal atresia", "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal liver morphology", - "Abnormal endocrine morphology", - "abnormal leg", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "abnormal hepatobiliary system morphology", - "anatomical entity hypoplasia in face", - "abnormal spleen", - "Abnormal oral cavity morphology", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "abnormality of kidney physiology", + "Small thenar eminence", + "abnormal musculature of limb", + "Abnormality of the musculature of the upper limbs", + "Abnormal palm morphology", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "Abnormality of the musculature of the hand", + "abnormal musculature", + "Abnormality of the thenar eminence", + "Abnormality of the musculature of the limbs", + "bone element hypoplasia in independent continuant", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal long bone morphology", "abnormal radius bone morphology", - "Digestive system neoplasm", - "increased size of the viscus", - "Abnormal abdomen morphology", - "Abnormal myeloid cell morphology", - "abnormal pancreas", - "increased size of the spleen", - "Abnormality of the integument", - "Epicanthus", - "Abnormality of the cardiovascular system", - "abnormal chemical homeostasis", - "abnormal anus", - "Neuroectodermal neoplasm", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "abnormally decreased number of anatomical entity", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "abnormal limb long bone morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", "Abnormal long bone morphology", - "absent sperm in the semen", + "Upper limb undergrowth", + "abnormal renal system", + "Abnormality of the anus", + "abnormally dilated renal pelvis", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormal heart morphology", + "radius bone hypoplasia", + "abnormal spatial pattern of anatomical entity", + "abnormal heart morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", "absent anatomical entity in the limb", - "Abnormal spleen morphology", - "abnormal semi-lunar valve morphology", - "increased biological_process", - "abnormal external ear", - "Prostate cancer", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of globe location", - "Strabismus", - "abnormal prostate gland", - "aplasia or hypoplasia of iris", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "increased pigmentation in independent continuant", - "decreased length of forelimb zeugopod bone", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "Abnormality of the pancreas", - "abnormal biliary system", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "Abnormality of the head", - "Abnormality of the liver", - "abnormal liver", - "Abnormality of the endocrine system", - "Jaundice", - "abnormal endocrine system", - "Ocular anterior segment dysgenesis", - "Aplasia/Hypoplasia affecting the uvea", - "Aplasia/Hypoplasia of the iris", - "flat anatomical entity in independent continuant", - "abnormal mandible morphology", - "abnormal penis", - "herniated anatomical entity", - "abnormal size of spleen", - "increased qualitatively biological_process in independent continuant", - "Abnormal ileum morphology", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormality of the musculature", + "abnormal digit", + "abnormal organelle organization", "Anal atresia", - "abnormally formed anterior chamber of eyeball", - "Abnormal forebrain morphology", - "Hypogonadism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "Decreased head circumference", - "abnormal size of skull", - "abnormal embryo morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal forebrain morphology", - "abnormal shape of cornea", - "abnormal anatomical entity morphology in the brain", - "Neoplasm by histology", - "abnormal shape of palpebral fissure", - "shape digit", - "Clubbing", - "Postnatal growth retardation", - "decreased size of the multicellular organism", - "abnormal vertebral column morphology", - "Abnormality of the inner ear", - "Abnormal systemic arterial morphology", - "abnormal systemic arterial system morphology", - "Short neck", - "Nephroblastoma", - "Aplasia/Hypoplasia involving the central nervous system", - "Mode of inheritance", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "abnormal size of liver", - "abnormal anatomical entity mass density", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "Nausea and vomiting", - "abnormal vascular system morphology", - "Abnormality of the spleen", - "Abnormal blood vessel morphology", - "radius bone hypoplasia", + "Neoplasm", + "Cryptorchidism", + "abnormal manual digit morphology in the independent continuant", + "anatomical entity hypoplasia", + "aplasia or hypoplasia of skeleton", "aplasia or hypoplasia of anatomical entity", - "Abnormality of the vasculature", - "abnormal common carotid artery plus branches morphology", - "abnormal vasculature", - "abnormal genitourinary system", - "Embryonal renal neoplasm", - "Constitutional symptom", - "Absent testis", - "abnormal posterior nasal aperture morphology", - "abnormal cellular metabolic process", - "abnormal ureter morphology", - "Abnormality of the choanae", - "abnormal nose", - "abnormally decreased number of myeloid cell", - "abnormal incomplete closing of the abdominal wall", - "Urinary tract neoplasm", - "Choanal atresia", - "Congenital onset", - "Abnormal skull morphology", - "internal naris atresia", + "Abnormality of digestive system morphology", + "abnormal limb", + "anus atresia", + "Dilatation of the renal pelvis", + "Abnormality of the kidney", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "Abnormal anus morphology", + "abnormally localised anatomical entity", + "abnormal appendicular skeleton morphology", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Abnormality of the upper limb", "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal olfactory system morphology", - "Clinodactyly", - "Abnormal right ventricle morphology", - "Hypertelorism", - "abnormal integument", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "Primary peritoneal carcinoma", - "Abnormality of movement", - "Neoplasm of the large intestine", - "Neoplasm of the gastrointestinal tract", - "opaque anatomical entity", - "Weight loss", - "Abnormality of body weight", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormality of multicellular organism mass", - "Abnormal pulmonary valve physiology", - "drooping eyelid", - "Abnormality of the female genitalia", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "Abnormal uvea morphology", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "abnormal muscle contraction in independent continuant", - "hypertrophic heart right ventricle", - "abnormally decreased number of cell in the independent continuant", - "Abnormal leukocyte morphology", - "abnormal lower urinary tract", - "decreased qualitatively pigmentation in independent continuant", - "Renal hypoplasia/aplasia", - "Abnormality of blood and blood-forming tissues", + "Limb undergrowth", + "agenesis of anatomical entity", + "decreased developmental process", + "All", + "Abnormal upper limb bone morphology", + "intestine atresia", + "Proximal placement of thumb", + "abnormal digit morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "increased size of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "Renal cyst", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormality of renal system physiology", + "quality", + "Abnormal renal pelvis morphology", + "decreased length of long bone", + "Abnormality of prenatal development or birth", + "abnormal spermatogenesis", + "phenotype", + "absent digit", + "abnormal male reproductive system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal thenar eminence", + "abnormal nitrogen compound metabolic process", + "abnormal internal genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal cellular process", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "absent anatomical entity in the multicellular organism", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "aplastic anatomical entity", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal anatomical entity morphology in the palmar part of manus", + "absent manual digit", + "abnormal phenotype by ontology source", + "deviation of manual digit", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal cellular physiology", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal cell", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "abnormal anus", + "Abnormal digit morphology", + "phenotype by ontology source", + "Abnormal thumb morphology", "Abnormality of the male genitalia", - "decreased length of digit", - "abnormal enteric nervous system morphology", - "Leukopenia", - "abnormal leukocyte morphology", - "abnormal cornea, curved", - "Abnormality of the anus", - "abnormal immune system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal incomplete closing of the arch of centrum of vertebra", - "prominent forehead", - "abnormally decreased number of leukocyte", - "Abnormality of the ear", - "abnormal hematopoietic system", - "abnormally decreased number of leukocyte in the blood", - "bone element hypoplasia in independent continuant", - "abnormally decreased number of anatomical entity in the blood", + "deviation of manual digit 1", + "abnormal limb bone morphology", + "abnormal testis morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "absent anatomical entity", + "decreased length of manual digit", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "abnormal cardiovascular system morphology", - "sloped anatomical entity", - "Abnormality of mental function", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Functional abnormality of male internal genitalia", - "Abnormality of the immune system", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "abnormally formed anatomical entity in independent continuant", - "bicornuate anatomical entity", - "Ectopic kidney", - "abnormal respiratory tube morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "Hearing abnormality", - "Tracheoesophageal fistula", - "decreased qualitatively biological_process in independent continuant", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal incomplete closing of the anatomical entity", - "Abnormal heart valve morphology", - "Abnormal esophagus morphology", - "shape anatomical entity", - "abnormal gland morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal respiratory system", - "abnormal size of palpebral fissure", - "Abnormality of the biliary system", - "abnormal digestive system morphology", - "abnormal primary metabolic process", - "abnormal digestive system", - "abnormality of digestive system physiology", - "decreased biological_process in independent continuant", - "increased length of the anatomical line between pupils", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormally increased number of anatomical entity", "abnormality of multicellular organism height", - "abnormal limb morphology", - "Fatigue", - "increased anatomical entity length in independent continuant", - "hypertrophic cardiac ventricle", - "Abnormal male reproductive system physiology", - "increased biological_process in independent continuant", - "asymmetrically curved cornea", - "Morphological central nervous system abnormality", - "Recurrent infections", - "Abnormal anterior eye segment morphology", - "Displacement of the urethral meatus", - "abnormal face", - "abnormal asymmetry of anatomical entity", - "abnormal ear morphology", - "abnormal liver morphology", - "abnormal anatomical entity, asymmetrically curved", - "abnormal multicellular organismal reproductive process", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormality of the upper urinary tract", - "Abnormality of the lower urinary tract", - "Abnormality of the kidney", - "U-shaped anatomical entity", - "abnormal eyeball of camera-type eye", - "Ventricular septal defect", - "abnormal response to stimulus", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Hepatomegaly", - "Abnormal cornea morphology", - "Abnormality of cardiovascular system morphology", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal forearm bone morphology", - "abnormal voluntary movement behavior", - "Abdominal symptom", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "abnormal artery morphology", - "Abnormality of enteric nervous system morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "Clinical modifier", - "abnormal neck morphology", - "Hypermelanotic macule", - "Duodenal stenosis", - "Abnormal foot morphology", - "abnormal organelle organization", - "absent kidney in the renal system", - "abnormal systemic artery morphology", - "abnormal hindlimb joint", - "decreased length of neck", - "shape longitudinal arch of pes", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "abnormal coronary vessel morphology", - "Abnormality of the lymphatic system", - "abnormal anterior uvea morphology", - "Finger aplasia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "forelimb zeugopod bone hypoplasia", + "Abnormality of the hand", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", "abnormal number of anatomical enitites of type anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal uvea morphology", + "increased size of the anatomical entity", + "abnormal limb bone", "absent gamete", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "abnormal nervous system morphology", - "Visceromegaly", - "continuant", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Abnormality of the neck", - "Abnormality of exocrine pancreas physiology", - "abnormality of anatomical entity mass", - "Abnormality of corneal shape", + "Abnormal finger morphology", "Aplasia/hypoplasia involving bones of the upper limbs", - "Ovarian neoplasm", - "Dermatological manifestations of systemic disorders", - "Upslanted palpebral fissure", - "Finger syndactyly", - "abnormal ductus arteriosus morphology", - "Abnormal bone ossification", - "decreased spermatogenesis", - "Abnormal tracheal morphology", - "Abnormal involuntary eye movements", - "abnormal kidney morphology", - "abnormal gamete", - "Abnormality of the outer ear", - "abnormality of camera-type eye physiology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "posterior nasal aperture atresia", - "Hypospadias", - "decreased pigmentation in independent continuant", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Cardiomyopathy", - "abnormal lens of camera-type eye morphology", - "Hydrocephalus", - "Abnormal morphology of ulna", - "Aplastic anemia", + "Aplasia/Hypoplasia of fingers", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Abnormality of the musculoskeletal system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "abnormal skeletal system morphology", - "Hip dislocation", - "Slanting of the palpebral fissure", - "Abnormality of refraction", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "phenotype by ontology source", - "abnormal phalanx of manus morphology", - "abnormal visual perception", - "Abnormality of pancreas physiology", + "Short long bone", + "decreased height of the multicellular organism", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "Abnormality of body height", + "abnormal digestive system morphology", + "abnormal musculature of upper limb", + "continuant", + "Azoospermia", + "Finger aplasia", + "abnormal intestine morphology", + "aplastic manual digit 1", + "decreased qualitatively reproductive process", + "anatomical entity hypoplasia in independent continuant", + "abnormally localised testis", + "Abnormal large intestine morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormality of limb bone", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Hydronephrosis", + "decreased length of anatomical entity", + "absent sperm in the semen", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal fetal morphology", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "non-functional anatomical entity", + "aplasia or hypoplasia of radius bone", "abnormal anatomical entity", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "increased size of the anatomical entity", - "abnormal limb bone", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "Cataract", - "Abnormal renal morphology", - "curved anatomical entity in independent continuant", - "Anemia of inadequate production", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal forearm morphology", + "abnormal gamete", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal size of anatomical entity", + "abnormal external genitalia", + "abnormal renal system morphology", + "Abnormal fetal genitourinary system morphology", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "Abnormality of chromosome stability", + "abnormal kidney", + "Abnormality of the cardiovascular system", "Abnormality of the genitourinary system", - "shape cornea", - "abnormal manual digit morphology in the manus", - "abnormal growth", - "abnormal craniocervical region morphology", - "abnormally fused anatomical entity and pedal digit", - "abnormal lymphatic part of lymphoid system", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "Abnormality of skull size", - "Abnormal vascular morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", + "absent germ cell", + "changed biological_process rate", + "abnormal upper urinary tract", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abnormal renal pelvis morphology", + "abnormal genitourinary system", + "abnormal renal pelvis", + "Fetal pyelectasis", + "abnormal late embryo", + "Abnormality of the urinary system", + "Abnormality of the genital system", + "increased size of the renal pelvis", + "Fetal ultrasound soft marker", + "abnormal number of anatomical enitites of type cell", + "abnormal multicellular organismal reproductive process", "abnormal reproductive process", - "abnormal heart left ventricle morphology", - "abnormal female reproductive system", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal forelimb zeugopod morphology", - "abnormal number of anatomical enitites of type platelet", - "decreased biological_process", - "abnormal neocortex morphology", - "Embryonal neoplasm", - "Pyridoxine-responsive sideroblastic anemia", + "Abnormal internal genitalia", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal reproductive system", "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "Growth abnormality", - "abnormal orbital region", - "abnormal sensory perception of light stimulus", - "Abnormality of the orbital region", - "quality", - "Abnormal eyelid morphology", - "increased pigmentation in skin of body", - "abnormal aorta morphology", - "abnormal pulmonary valve morphology", - "abnormal endocrine gland morphology", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal development of anatomical entity", - "abnormal renal system morphology", - "All", - "Abnormal bone structure", - "Abnormal cerebral ventricle morphology", - "abnormal trachea morphology", - "decreased qualitatively biological_process", - "absent manual digit", - "ulna hypoplasia", - "abnormality of exocrine gland physiology", - "decreased size of the mandible", - "Intestinal pseudo-obstruction", - "Decreased anatomical entity mass", - "entity", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Cholestasis", - "abnormal digit", - "Abnormality of the skeletal system", + "Growth delay", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "Abnormal external genitalia", + "abnormal developmental process involved in reproduction", + "abnormal anatomical entity morphology in the pectoral complex", + "Functional abnormality of male internal genitalia", + "Abnormality of reproductive system physiology", + "absent anatomical entity in the semen", + "Abnormality of male external genitalia", + "Phenotypic abnormality", + "abnormal reproductive system morphology", + "decreased qualitatively developmental process", + "abnormality of internal male genitalia physiology", + "abnormal male reproductive system", + "abnormal kidney morphology", + "decreased spermatogenesis", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "abnormally localised anatomical entity in independent continuant", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal number of anatomical enitites of type sperm", + "Non-obstructive azoospermia", + "abnormal male reproductive organ morphology", + "Fetal anomaly", + "abnormal external male genitalia", + "Short finger", + "thenar eminence hypoplasia", + "decreased length of digit", "Deviation of finger", - "Autosomal recessive inheritance", - "curvature anatomical entity", - "abnormal skin of body", - "abnormal upper urinary tract", - "Limb undergrowth", - "increased height of the anatomical entity", - "Finger clinodactyly", - "abnormal endocrine system morphology", - "Ptosis", - "abnormal female reproductive system morphology", - "Abnormal neck morphology", - "abnormal peritoneum morphology", - "abnormal shape of forehead", - "abnormality of pancreas physiology", - "abnormal camera-type eye morphology", - "aplasia or hypoplasia of manual digit 1", - "abnormally decreased number of cell", - "Abnormal mandible morphology", - "abnormal head morphology", - "increased size of the abdominal viscera", - "abnormal vertebral column", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", + "abnormal manual digit 1 morphology", + "Short thumb", + "Short digit", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "abnormal primary metabolic process", "Deviation of the hand or of fingers of the hand", - "abnormal late embryo", - "Almond-shaped palpebral fissure", - "Abdominal wall defect", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal axial skeleton morphology", - "abnormal head", - "Pancytopenia", - "Hyperpigmentation of the skin", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal reproductive system", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal kidney", - "decreased length of anatomical entity in independent continuant", - "hypertrophic multicellular anatomical structure", - "abnormal pigmentation in independent continuant", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "abnormal ocular adnexa", - "Anorexia", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of multiple cell lineages in the bone marrow", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal vestibulo-ocular reflex", - "Abnormal preputium morphology", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "Abnormality of head or neck", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", - "abnormal nervous system", - "abnormal central nervous system morphology", - "agenesis of anatomical entity", - "Genital neoplasm", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "Abnormality of the palpebral fissures", - "decreased developmental process", - "Neuroblastoma", - "changed muscle contraction rate", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal digit morphology", - "abnormal manus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal large intestine morphology", - "anatomical entity hyperplasia", - "abnormal cervical vertebra", - "Neoplasm of the pancreas", - "aplastic manual digit 1", + "abnormal size of multicellular organism", + "decreased height of the anatomical entity", + "abnormality of anatomical entity height", "Aplasia/hypoplasia of the extremities", - "drooping anatomical entity", - "Atrial septal defect", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "decreased pigmentation in skin of body", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "Abnormal aortic valve morphology", - "abnormal autopod region morphology", - "U-shaped kidney", + "decreased biological_process", + "Short stature", + "decreased size of the multicellular organism", + "abnormal growth", + "abnormal cardiovascular system", + "delayed growth", + ], + }, + { + "id": "MONDO:0013499", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group P", + "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", + "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:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0002984", + "HP:0000581", + "HP:0001510", + "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": [ "Absent thumb", - "clavate digit", - "shape eyelid", - "abnormal arm", - "Abnormality of limb bone", - "Abnormal eye morphology", - "abnormal connective tissue", - "abnormality of ear physiology", - "Abnormal male urethral meatus morphology", - "Intermittent diarrhea", - "Poor appetite", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "abnormal cardiac valve morphology", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal shape of the palpebral fissure", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormal cardiac valve morphology in the heart", - "Splenomegaly", - "Small for gestational age", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the ocular adnexa", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal limb", - "curvature anatomical entity in independent continuant", - "Abnormal ear morphology", - "abnormal craniocervical region", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal manus morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal ulna morphology", - "abnormal limb bone morphology", - "Abnormality of the urethra", - "abnormal brain morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of chromosome stability", - "abnormal testis morphology", - "decreased biological_process in multicellular organism", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal ileum morphology", - "Abdominal pain", - "Abnormal morphology of female internal genitalia", - "abnormal ovary", - "abnormal zone of skin morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal neck", - "abnormal anatomical entity length", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "abnormal exocrine gland morphology", - "abnormal internal female genitalia morphology", - "abnormal internal naris", - "Neurodevelopmental abnormality", - "Gonadal neoplasm", - "increased biological_process in skin of body", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal ventricular septum morphology", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "Horseshoe kidney", - "abnormal myocardium morphology", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal size of the palpebral fissures", - "Extrahepatic cholestasis", - "deviation of anatomical entity towards the middle", - "Abnormal testis morphology", - "abnormal incomplete closing of the secondary palate", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Melanoma", - "Abnormal tracheobronchial morphology", - "Breast carcinoma", - "Elevated hepatic transaminase", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Hypoplasia of the radius", + "Blepharophimosis", "Growth delay", - "Abnormal external genitalia", - "abnormal closing of the anatomical entity", - "Abnormal ear physiology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal vein morphology", - "Decreased body weight", - "aplastic anatomical entity", - "abnormal external ear morphology", - "absent anatomical entity in the multicellular organism", - "Microphthalmia", - "decreased qualitatively developmental process", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal anatomical entity morphology", - "Abnormal reflex", - "Autosomal dominant inheritance", - "abnormal anatomical entity, curved", - "absent sperm in the independent continuant", - "abnormally formed anatomical entity", - "absent sperm", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormally localised anatomical entity", - "Abnormal heart morphology", - "Acute myeloid leukemia", - "Aplasia/Hypoplasia of the testes", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "abnormal number of anatomical enitites of type sperm", - "abnormal spleen morphology", - "Abnormal penis morphology", - "Intellectual disability", - "Neoplasm", - "Abnormal cardiac atrium morphology", - "abnormal male reproductive organ morphology", - "Toe syndactyly", - "Abnormality of metabolism/homeostasis", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "Abnormal enzyme concentration or activity", - "abnormal facial skeleton morphology", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "abnormal hypothalamus-pituitary axis", - "Macule", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal female reproductive organ morphology", - "Acute leukemia", - "Decreased anatomical entity mass density", - "Diarrhea", - "abnormal synovial joint morphology", - "increased size of the brain ventricle", - "Abnormal upper limb bone morphology", - "Atypical behavior", - "Neoplasm of the breast", - "Ventriculomegaly", - "increased size of the liver", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Abnormality of prenatal development or birth", - "Oligohydramnios", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal anatomical entity morphology in the manus", - "abnormal platelet morphology", - "Abnormal thorax morphology", - "Abnormal platelet count", - "abnormal internal male genitalia morphology", - "Thrombocytopenia", - "abnormal cell", - "abnormal blood cell morphology", - "Abnormal circulating enzyme concentration or activity", - "abnormal blood cell", - "abnormal myeloid cell morphology", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Onset", - "abnormal size of eyeball of camera-type eye", - "absent anatomical entity", - "decreased size of the eyeball of camera-type eye", - "abnormal sensory perception", - "Forearm undergrowth", - "Tetralogy of Fallot", - "increased height of the secondary palate", - "Decreased bone element mass density", - "increased size of the anatomical entity in independent continuant", + "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": [ + "UPHENO:0002597", + "HP:0000078", + "UPHENO:0003055", + "HP:0000080", + "UPHENO:0053580", + "UPHENO:0050101", + "HP:0012874", + "HP:0000812", + "UPHENO:0081755", + "HP:0000811", + "HP:0000028", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0078452", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0002595", + "UPHENO:0049367", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0002598", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "UPHENO:0085874", + "HP:0000025", + "UPHENO:0085194", + "UPHENO:0005651", + "UPHENO:0049985", + "UPHENO:0078729", + "UPHENO:0082875", + "UPHENO:0050620", + "HP:0000365", + "UPHENO:0052970", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0052178", + "UPHENO:0002240", + "HP:0000002", + "UPHENO:0080352", + "UPHENO:0081424", + "HP:0011017", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "UPHENO:0049990", + "UPHENO:0049748", + "UPHENO:0050113", + "HP:0003220", + "HP:0000079", + "UPHENO:0086023", + "UPHENO:0041226", + "UPHENO:0080382", + "UPHENO:0041629", + "UPHENO:0082129", + "HP:0012210", + "HP:0000085", + "UPHENO:0002332", + "UPHENO:0087427", + "HP:0100542", + "UPHENO:0049940", + "HP:0010935", + "HP:0012130", + "HP:0001877", + "HP:0001903", + "UPHENO:0087430", + "UPHENO:0065599", + "HP:0000436", + "UPHENO:0084715", + "HP:0000414", + "UPHENO:0088168", + "HP:0000086", + "UPHENO:0001072", + "UPHENO:0053298", + "UPHENO:0084727", + "HP:0009381", + "UPHENO:0046624", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0076803", + "UPHENO:0083646", + "HP:0034261", + "HP:0004322", + "UPHENO:0002833", + "HP:0009118", + "HP:0011821", + "UPHENO:0046411", + "HP:0000277", + "HP:0025031", + "HP:0000347", + "UPHENO:0081786", + "HP:0000252", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "HP:0002060", + "UPHENO:0076718", + "UPHENO:0054567", + "UPHENO:0004523", + "UPHENO:0085873", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "HP:0010461", + "UPHENO:0050625", + "HP:0000929", + "UPHENO:0087802", + "HP:0001000", + "UPHENO:0087547", + "UPHENO:0088170", + "UPHENO:0001001", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0003026", + "UPHENO:0076791", + "UPHENO:0086589", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0002635", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0088162", + "HP:0000953", + "HP:0025033", + "UPHENO:0087907", + "HP:0006501", + "UPHENO:0080377", + "UPHENO:0075195", + "UPHENO:0080662", + "UPHENO:0081435", + "UPHENO:0021791", + "HP:0001574", + "HP:0007400", + "HP:0000001", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0002903", + "HP:0011875", + "UPHENO:0050121", + "HP:0002692", + "UPHENO:0074572", + "UPHENO:0080221", + "HP:0000957", + "UPHENO:0086700", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0021517", + "UPHENO:0087950", + "UPHENO:0002964", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0050845", + "UPHENO:0034770", + "UPHENO:0080099", + "UPHENO:0076739", + "HP:0007364", + "HP:0002977", + "UPHENO:0086595", + "HP:0000492", + "UPHENO:0088116", + "UPHENO:0054970", + "UPHENO:0002378", + "UPHENO:0060026", + "HP:0009380", + "UPHENO:0084763", + "UPHENO:0076702", + "UPHENO:0002708", + "UPHENO:0002764", + "UPHENO:0084448", + "HP:0009824", + "HP:0009115", + "UPHENO:0087501", + "HP:0000707", + "UPHENO:0086172", + "HP:0001034", + "HP:0001873", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "HP:0012443", + "UPHENO:0026181", + "UPHENO:0084987", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "HP:0030791", + "UPHENO:0049587", + "UPHENO:0002844", + "HP:0011297", + "UPHENO:0046707", + "UPHENO:0087472", + "UPHENO:0005016", + "HP:0000119", + "HP:0000152", + "UPHENO:0074584", + "UPHENO:0081790", + "HP:0001871", + "UPHENO:0079876", + "HP:0000118", + "UPHENO:0080165", + "HP:0001172", + "UPHENO:0076724", + "UPHENO:0085195", + "HP:0011961", + "UPHENO:0087006", + "HP:0032039", + "UPHENO:0077426", + "HP:0000240", + "HP:0000077", + "UPHENO:0002905", + "HP:0012733", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0080325", + "UPHENO:0059829", + "BFO:0000020", + "UPHENO:0074589", + "HP:0200007", + "HP:0000153", + "HP:0006265", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0081788", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0026183", + "HP:0040068", + "HP:0031704", + "HP:0040070", + "HP:0005922", + "HP:0001045", + "HP:0009601", + "HP:0001507", + "HP:0045060", + "UPHENO:0076723", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0049700", + "HP:0005927", + "HP:0000125", + "HP:0002817", + "HP:0002984", + "HP:0001876", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", + "HP:0040195", + "UPHENO:0001005", + "HP:0009121", + "UPHENO:0011498", + "HP:0009777", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0085875", + "HP:0011355", + "HP:0009116", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0006910", + "UPHENO:0002907", + "UPHENO:0074575", + "HP:0002011", + "HP:0012145", + "UPHENO:0084766", + "UPHENO:0050008", + "UPHENO:0087518", + "UPHENO:0008523", + "UPHENO:0050108", + "UPHENO:0041075", + "UPHENO:0085144", + "UPHENO:0076703", + "UPHENO:0002371", + "BFO:0000001", + "UPHENO:0088166", + "HP:0040064", + "HP:0001167", + "PATO:0000001", + "UPHENO:0026028", + "HP:0011844", + "UPHENO:0080079", + "HP:0001155", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080200", + "UPHENO:0076805", + "HP:0025461", + "UPHENO:0080126", + "UPHENO:0076799", + "UPHENO:0080187", + "HP:0011793", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0026506", + "HP:0008069", + "UPHENO:0021561", + "UPHENO:0085189", + "HP:0000315", + "UPHENO:0085118", + "UPHENO:0012274", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0046753", + "UPHENO:0046538", + "UPHENO:0068971", + "UPHENO:0081204", + "UPHENO:0076761", + "HP:0009821", + "HP:0025354", + "HP:0000366", + "HP:0005773", + "UPHENO:0005597", + "UPHENO:0081792", + "HP:0006503", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0054957", + "UPHENO:0004459", + "HP:0040072", + "UPHENO:0002910", + "UPHENO:0076727", + "UPHENO:0086045", + "UPHENO:0081451", + "UPHENO:0087349", + "UPHENO:0082444", + "UPHENO:0020041", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "UPHENO:0084928", + "HP:0002973", + "HP:0011121", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", + "UPHENO:0012541", + "HP:0010938", + "HP:0009778", + "HP:0006496", + "UPHENO:0075878", + "UPHENO:0020950", + "UPHENO:0054577", + "HP:0030669", + "UPHENO:0087089", + "UPHENO:0003085", + "HP:0002715", + "HP:0008050", + "UPHENO:0020888", + "UPHENO:0075997", + "UPHENO:0081314", + "HP:0009826", + "UPHENO:0075198", + "UPHENO:0041821", + "HP:0045025", + "HP:0000271", + "UPHENO:0001002", + "UPHENO:0087924", + "HP:0012745", + "HP:0005105", + "UPHENO:0000541", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0086201", + "HP:0001510", + "UPHENO:0000543", + "UPHENO:0049874", + "UPHENO:0086049", + "UPHENO:0002948", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0075902", + "HP:0001881", + "UPHENO:0009382", + "UPHENO:0085068", + "UPHENO:0087339", + "UPHENO:0053588", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0087355", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0084457", + "HP:0000951", + "HP:0000581", + "UPHENO:0002828", + "UPHENO:0081141", + "HP:0011873", + "HP:0020047", + "HP:0011893", + "HP:0032251", + "UPHENO:0085302", + "UPHENO:0085371", + "UPHENO:0085984", + "UPHENO:0086173", + "UPHENO:0069249", + "UPHENO:0080087", + "UPHENO:0076800", + "HP:0031816", + "UPHENO:0080351", + "HP:0009122", + ], + "has_phenotype_closure_label": [ + "Vitiligo", + "Ectopic kidney", + "abnormally localised kidney", + "abnormally localised anatomical entity", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal external male genitalia", + "Abnormality of the genital system", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", "Non-obstructive azoospermia", - "Abnormality of vision", - "Abnormality of the ureter", - "decreased qualitatively visual perception", - "abnormal interatrial septum morphology", - "Abnormality of the face", - "abnormal jaw skeleton morphology", - "changed embryo development rate", - "Proptosis", - "abnormal respiratory system morphology", - "abnormally protruding anatomical entity", - "Pancreatic adenocarcinoma", - "Abnormality of the lower limb", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", - "flat anatomical entity", - "abnormal bone marrow morphology", - "abnormal cerebral cortex morphology", - "flattened anatomical entity in independent continuant", - "abnormality of cardiovascular system physiology", - "Pes planus", - "decreased qualitatively sensory perception of mechanical stimulus", - "Mendelian inheritance", - "abnormal bone of pectoral complex morphology", - "flat longitudinal arch of pes", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormal hemopoietic organ morphology", - "Abnormal consumption behavior", - "Abnormal male internal genitalia morphology", - "abnormally fused digit and digit", - "Arteriovenous malformation", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "increased length of the epicanthal fold", - "Peritoneal abscess", - "Renal agenesis", - "Cleft palate", - "abnormally fused pedal digit and pedal digit", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "abnormally localised anatomical entity in independent continuant", + "absent sperm in the independent continuant", + "abnormal male reproductive system", + "abnormality of internal male genitalia physiology", + "decreased qualitatively developmental process", + "absent gamete", + "abnormal gamete", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "changed developmental process rate", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "abnormal testis morphology", + "Abnormal testis morphology", + "Azoospermia", + "Abnormality of the male genitalia", + "abnormal multicellular organismal reproductive process", + "Abnormality of the ear", + "abnormality of ear physiology", + "abnormality of anatomical entity physiology", + "Hearing abnormality", + "Hearing impairment", + "decreased size of the multicellular organism", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", "abnormal size of multicellular organism", - "Glucose intolerance", - "abnormal location of anatomical entity", - "abnormally fused pedal digit and anatomical entity", - "abnormal tetrapod frontal bone morphology", - "abnormality of internal ear physiology", - "abnormal pedal digit morphology", - "abnormal phenotype by ontology source", - "abnormal bone marrow cell morphology", - "Abnormality of eye movement", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "Chromosomal breakage induced by crosslinking agents", + "Pelvic kidney", + "Abnormal cellular physiology", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "Abnormality of the urinary system", + "shape anatomical entity", + "abnormal genitourinary system", + "Abnormality of the kidney", + "3-D shape anatomical entity in independent continuant", + "U-shaped kidney", + "abnormal renal system", + "abnormal upper urinary tract", + "U-shaped anatomical entity", + "3-D shape anatomical entity", + "Abnormality of the genitourinary system", + "shape kidney", + "abnormality of reproductive system physiology", + "absent sperm", + "Horseshoe kidney", + "shape anatomical entity in independent continuant", "concave 3-D shape anatomical entity", - "Bicornuate uterus", - "abnormal behavior", - "abnormal eye movement", - "abnormal cardiac valve morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal cranium morphology", - "abnormal penis morphology", - "abnormal artery morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "abnormal opening of the anatomical entity", - "Neoplasm of the liver", - "abnormal cardiac septum morphology", - "Abnormal cardiac septum morphology", - "Abnormal atrial septum morphology", - "Global developmental delay", - "Right ventricular hypertrophy", - "Conotruncal defect", + "abnormal renal system morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "Abnormality of body height", + "abnormal external nose morphology", + "Abnormality of the nose", + "abnormal nose", + "Abnormal nasal tip morphology", "abnormally increased volume of anatomical entity", - "Chronic fatigue", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", - "Abnormality of the mouth", - "abnormal interventricular septum morphology", - "Abnormal morphology of the great vessels", - "Neoplasm of the genitourinary tract", - "Abnormal ventriculoarterial connection", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "Abnormal jaw morphology", - "Meckel diverticulum", - "increased size of the heart right ventricle", - "Ventricular hypertrophy", - "Overriding aorta", - "decreased muscle contraction", - "abnormal great vessel of heart morphology", - "Abnormal myocardium morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Abnormal facial shape", - "Craniofacial cleft", - "Decreased fertility", - "Abnormal leukocyte count", - "Facial asymmetry", - "abnormal sensory perception of sound", - "abnormal spatial pattern of anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "Colon cancer", - "abnormal aortic valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal facial skeleton morphology", - "mandible hypoplasia", - "Abnormality of skin morphology", - "Diabetes mellitus", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "Gastrointestinal obstruction", - "clavate anatomical entity", - "facial bone hypoplasia", - "abnormal mouth", - "aplasia or hypoplasia of mandible", + "Bulbous nose", + "abnormal nose morphology", + "Abnormal external nose morphology", + "increased size of the anatomical entity in independent continuant", + "decreased length of manual digit 1", + "Short digit", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "abnormal mandible morphology", + "Abnormality of reproductive system physiology", "Aplasia/Hypoplasia involving bones of the skull", - "shape forehead", - "herniated abdominal wall", - "abnormal manual digit 5 morphology", - "Sloping forehead", - "decreased sensory perception of sound", - "abnormality of alimentary part of gastrointestinal system physiology", - "Functional intestinal obstruction", - "abnormal manual digit 1 morphology", - "Abnormal fallopian tube morphology", - "Syndactyly", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "abnormal response to external stimulus", - "abnormal fallopian tube morphology", - "abnormal cornea morphology", - "Intrauterine growth retardation", - "Neuroblastic tumor", - "abnormal breast", - "abnormal embryo development", - "decreased embryo development", - "Hernia", - "abnormal abdominal wall", - "Abnormality of the abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the cervical spine", - "Abnormal umbilicus morphology", - "Hernia of the abdominal wall", - "Abnormality of digestive system physiology", - "Abnormal cell morphology", - "Abnormal palate morphology", - "Medulloblastoma", - "Abnormal intestine morphology", - "Malignant neoplasm of the central nervous system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Neoplasm of the central nervous system", - "abnormal oral cavity morphology", - "increased height of anatomical entity in independent continuant", - "High palate", - "abnormal heart right ventricle morphology", - "abnormality of anatomical entity height", - "abnormal midface morphology", - "Abnormal midface morphology", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "abnormal physiologic nystagmus", - "Abnormality of femur morphology", - "Abnormal joint morphology", - "Abnormal cerebral morphology", - "Joint dislocation", - "abnormal synovial joint of pelvic girdle morphology", - "abnormal hip joint morphology", - "Micrognathia", - "anatomical entity dislocation", - "abnormal pelvic girdle bone/zone morphology", - "absent anatomical entity in the forelimb", - "Increased head circumference", - "Abnormal hip bone morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "skeletal joint dislocation", - "Lower extremity joint dislocation", + "abnormal digestive system", + "aplasia or hypoplasia of mandible", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "abnormal long bone morphology", + "abnormal nervous system", + "Neoplasm", + "Morphological central nervous system abnormality", + "abnormal facial skeleton morphology", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "aplasia or hypoplasia of telencephalon", + "Decreased head circumference", + "delayed growth", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "abnormal biological_process in independent continuant", + "Abnormality of the nervous system", + "Squamous cell carcinoma", + "abnormal integument", + "abnormal biological_process", + "Hyperpigmentation of the skin", + "abnormal digestive system morphology", + "Irregular hyperpigmentation", "abnormal skeletal system", - "Abnormal calvaria morphology", - "Dolichocephaly", - "increased size of the head", - "abnormal external genitalia", - "abnormal size of head", - "abnormal vault of skull", - "Abnormality of the ovary", - "Abnormal aortic morphology", - "Abscess", - "abnormal skin of face morphology", - "abnormal neural tube closure", - "abnormal skin of head morphology", - "abnormal long bone morphology", - "Ovarian carcinoma", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Chromosomal breakage induced by crosslinking agents", - "abnormal roof of mouth morphology", - "prominent anatomical entity", - "abnormal metabolic process", - "Lymphadenopathy", - "increased size of the lymph node", - "abnormal DNA metabolic process", - "Chromosome breakage", - "abnormal cellular component organization", - "abnormal nitrogen compound metabolic process", - "abnormal chromatin organization", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "abnormal soft palate morphology", - "Aplasia/Hypoplasia of the uvula", - "shape uterus", - "3-D shape anatomical entity", - "abnormal uterus morphology", - "Functional abnormality of the inner ear", - "abnormal uterus", - "Abnormality of the uterus", - "Abnormal glucose homeostasis", - "Abnormal homeostasis", - "abnormal glucose homeostasis", - "abnormal cellular process", - "abnormal carbohydrate homeostasis", - "decreased length of palpebral fissure", - "increased pigmentation", + "decreased width of the anatomical entity in independent continuant", + "Abnormality of skin pigmentation", + "abnormal ocular adnexa morphology", + "Abnormal axial skeleton morphology", + "Abnormal facial skeleton morphology", + "decreased size of the anatomical entity in the pectoral complex", "Abnormal skeletal morphology", + "Cafe-au-lait spot", + "Macule", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal mandible morphology", + "absent anatomical entity in the limb", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", "Short palpebral fissure", - "Gastrointestinal dysmotility", - "absent kidney", - "abnormal incomplete closing of the interatrial septum", - "Decreased multicellular organism mass", - "abnormal consumption behavior", - "Aplasia/Hypoplasia of the ulna", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "Abnormality of the gastrointestinal tract", - "Neuroepithelial neoplasm", - "Primitive neuroectodermal tumor", - "changed developmental process rate", - "abnormal musculoskeletal movement", - "Nervous tissue neoplasm", - "abnormal muscle contraction", - "Leukemia", - "decreased gastro-intestinal system smooth muscle contraction", + "Abnormal size of the palpebral fissures", + "abnormal digit", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormally localised testis", + "anatomical entity hypoplasia in face", + "Abnormality of digestive system morphology", + "abnormal limb", + "Abnormal appendicular skeleton morphology", + "abnormal head", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased size of the anatomical entity", + "Abnormal nervous system morphology", + "abnormal limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "increased qualitatively biological_process in independent continuant", + "Abnormal finger morphology", + "abnormal craniocervical region morphology", + "continuant", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "aplastic anatomical entity", + "increased biological_process in independent continuant", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of fingers", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "agenesis of anatomical entity", + "increased qualitatively biological_process", + "All", + "Abnormal upper limb bone morphology", + "absent anatomical entity", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "abnormal forebrain morphology", + "absent germ cell", + "abnormally increased volume of nose", + "increased biological_process in skin of body", + "changed biological_process rate", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of skull size", "abnormal face morphology", - "abnormal intestine morphology", - "abnormal gastro-intestinal system smooth muscle contraction", - "Neoplasm of the colon", - "Anemia", - "abnormal large intestine morphology", + "Limb undergrowth", + "abnormal platelet", + "abnormal reproductive system", + "Abnormality of head or neck", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal spermatogenesis", + "Localized skin lesion", + "Abnormal hand morphology", + "absent digit", + "quality", + "abnormal limb bone morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "increased pigmentation", + "Abnormal oral morphology", + "increased pigmentation in independent continuant", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal digit morphology", + "Abnormal forebrain morphology", "Abnormality of the skin", - "Abnormality of the breast", - "Abnormality of skin pigmentation", - "abnormal chest morphology", - "abnormal chest", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal breast morphology", - "abnormal hindlimb morphology", - "abnormal breast morphology", - "Abnormality of body height", - "Abnormality of the eye", - "decreased size of the ulna", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Aplasia/Hypoplasia of facial bones", + "Abnormality of the hand", + "abnormal sensory perception", + "abnormal manus", + "Finger aplasia", + "abnormal skull morphology", + "Abnormal platelet morphology", + "mandible hypoplasia", + "phenotype by ontology source", + "aplastic manual digit 1", + "Aplasia/Hypoplasia of the thumb", + "abnormal head morphology", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "Abnormal digit morphology", + "abnormal hematopoietic system morphology", + "abnormal arm", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "decreased biological_process", + "Short stature", + "Hypoplastic facial bones", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "abnormal anatomical entity morphology in the brain", + "Abnormality of limb bone", + "decreased qualitatively sensory perception of sound", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormal nasal morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal erythroid lineage cell morphology", + "bone element hypoplasia in independent continuant", + "absent anatomical entity in the multicellular organism", + "Abnormality of the orbital region", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "aplasia or hypoplasia of manual digit", + "abnormal appendicular skeleton morphology", + "decreased length of palpebral fissure", + "abnormal blood cell", + "abnormal pigmentation", + "abnormal ear", + "Absent thumb", + "abnormal autopod region morphology", + "decreased height of the multicellular organism", + "Short long bone", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "Abnormality of the head", + "Neoplasm of the skin", + "decreased length of long bone", + "abnormal radius bone morphology", + "abnormal face", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "Aplasia/Hypoplasia of the radius", + "anatomical entity hypoplasia in independent continuant", + "Abnormal localization of kidney", + "Growth abnormality", + "abnormal orbital region", + "phenotype", + "Abnormal cell morphology", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "radius bone hypoplasia", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "abnormal nose tip morphology", + "Aplasia/hypoplasia involving forearm bones", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal palpebral fissure", + "abnormally decreased number of cell", + "absent sperm in the semen", + "decreased length of anatomical entity", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormal ocular adnexa morphology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "abnormal limb long bone morphology", + "increased pigmentation in skin of body", + "decreased length of forelimb zeugopod bone", + "Microcephaly", + "changed biological_process rate in independent continuant", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal bone marrow cell morphology", + "Blepharophimosis", + "Abnormal erythrocyte morphology", + "aplasia or hypoplasia of radius bone", + "decreased size of the mandible", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal internal genitalia", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased spermatogenesis", + "abnormal kidney morphology", + "decreased width of the palpebral fissure", + "Abnormality of the palpebral fissures", + "Abnormal internal genitalia", + "abnormal eyelid morphology", + "Abnormal eyelid morphology", + "abnormal hematopoietic system", + "Abnormality of the upper urinary tract", + "decreased width of the anatomical entity", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal ocular adnexa", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal size of palpebral fissure", + "Narrow palpebral fissure", "decreased height of the anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", - "decreased height of the multicellular organism", - "Abnormality of the vertebral column", - "Short stature", - "Abnormality of bone marrow cell morphology", - "abnormal erythrocyte morphology", - "Nystagmus", - "Cryptorchidism", - "abnormal outflow part of left ventricle morphology", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "Abnormal gastrointestinal motility", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "Cranial nerve paralysis", - "abnormal peripheral nervous system morphology", - "Abnormality of the peripheral nervous system", - "paralysed cranial nerve", - "paralysed anatomical entity", - "Sideroblastic anemia", - "abnormal location of eyeball of camera-type eye", - "deviation of manual digit 5", - "deviation of digit towards the middle", - "deviation of manual digit", - "Abnormality of the hypothalamus-pituitary axis", - "deviation of anatomical entity", - "Visual impairment", - "deviation of manual digit towards the middle", - "deviation of manual digit 5 towards the middle", - "Abnormality of bone mineral density", - "decreased length of manual digit", - "Short finger", - "Pain", - "Short thumb", - "Prostate neoplasm", - "Short digit", - "decreased length of manual digit 1", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "decreased multicellular organism mass", - "decreased qualitatively pigmentation", - "Hypopigmentation of the skin", - "Abnormality of the urinary system physiology", - "Hypopigmented skin patches", - "abnormal phalanx of pes morphology", - "abnormal abdomen morphology", - "abnormal phalanx morphology", - "lymph node hyperplasia", - "Abnormal toe phalanx morphology", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "Abnormality of enteric ganglion morphology", + "Abnormality of the face", + "decreased sensory perception of sound", "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal lymph node morphology", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Clinical course", - "abnormal small intestine", - "Azoospermia", - "Abnormal small intestine morphology", - "abnormal eyelid morphology", - "Back pain", - "Abnormal peritoneum morphology", - "Reduced impulse control", - "Recurrent maladaptive behavior", - "Abnormal shape of the frontal region", - "abnormal heart layer morphology", - "Abnormality of lower limb joint", - "Abnormal frontal bone morphology", - "increased qualitatively biological_process", - "Abnormal cerebral cortex morphology", - "abnormal shape of frontal cortex", - "abnormal cerebral hemisphere morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal frontal cortex morphology", - "abnormal homeostatic process", - "abnormal lymph node morphology", - "abnormal size of lymph node", - "Abnormal duodenum morphology", - "Pelvic kidney", - "Abnormal thumb morphology", - "aplasia or hypoplasia of ulna", - "Unilateral renal agenesis", - "Abnormal vestibular function", - "absent kidney in the independent continuant", - "Congenital malformation of the great arteries", - "decreased pigmentation in multicellular organism", - "absent anatomical entity in the renal system", - "abnormally decreased functionality of the gonad", - "Puberty and gonadal disorders", - "Male reproductive system neoplasm", - "Orofacial cleft", - "abnormal enteric ganglion morphology", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal esophagus morphology", + "aplasia or hypoplasia of skull", + "Growth delay", + "abnormal cell", + "Abnormal leukocyte count", + "abnormal hematopoietic cell morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormality of the skeletal system", + "Abnormality of the ocular adnexa", + "Micrognathia", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal immune system", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal developmental process involved in reproduction", + "Thrombocytopenia", + "Abnormality of the immune system", + "Pancytopenia", + "abnormal growth", + "abnormal leukocyte morphology", + "Abnormality of blood and blood-forming tissues", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Anemia", + "abnormal bone marrow cell", + "abnormal nervous system morphology", + "abnormal cell morphology", + "abnormal external genitalia", "abnormal size of anatomical entity", - "abnormality of renal system physiology", - "Abnormal lens morphology", - "Abnormal respiratory system morphology", - "Multiple cafe-au-lait spots", - "increased reflex", - "increased qualitatively response to stimulus", - "Hyperreflexia", - "Decreased fertility in males", + "Abnormality of thrombocytes", + "Aplasia/Hypoplasia of the mandible", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormality of the digestive system", + "abnormal head bone morphology", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "abnormal mouth morphology", + "abnormal size of skull", + "Abnormality of the mouth", + "bone element hypoplasia in face", ], }, { - "id": "MONDO:0013248", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", - "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"], + "name": "Fanconi renotubular syndrome 1", + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], "provided_by": "phenio_nodes", "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", + "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:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", - "HP:0002984", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", "HP:0004322", - "HP:0001245", + "HP:0003126", + "HP:0000083", + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", "HP:0003774", - "HP:0025023", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", "Short stature", - "Small thenar eminence", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", ], - "has_phenotype_count": 15, + "has_phenotype_count": 39, "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", + "UPHENO:0078555", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068079", + "UPHENO:0084542", + "UPHENO:0051619", + "UPHENO:0051714", + "UPHENO:0051608", + "UPHENO:0051688", + "UPHENO:0051659", + "HP:0001995", + "HP:0004918", + "HP:0025142", + "HP:0012531", + "HP:0011279", + "HP:0002659", + "HP:0003081", + "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0078640", + "UPHENO:0050484", "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", - "HP:0001510", - "UPHENO:0086201", - "HP:0000811", - "UPHENO:0074228", - "UPHENO:0001005", - "UPHENO:0002597", - "HP:0011793", - "UPHENO:0076776", - "HP:0006503", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "UPHENO:0002839", - "BFO:0000002", - "UPHENO:0053298", - "HP:0004322", - "UPHENO:0002833", - "UPHENO:0080099", - "HP:0030680", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0046411", - "UPHENO:0080351", - "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "HP:0005773", - "HP:0001155", - "UPHENO:0077426", - "UPHENO:0084771", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0021561", - "HP:0009821", + "UPHENO:0084537", + "HP:0010996", + "UPHENO:0049723", + "HP:0004359", + "HP:0010966", + "HP:0012103", "HP:0025354", - "UPHENO:0080126", - "UPHENO:0076810", - "HP:0011844", - "UPHENO:0080079", - "HP:0009601", - "HP:0001507", + "HP:0003119", + "UPHENO:0006889", + "HP:0011843", + "HP:0003234", + "UPHENO:0082544", + "HP:0004354", + "UPHENO:0034319", + "UPHENO:0084472", + "UPHENO:0068442", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "HP:0004369", + "HP:0011038", + "UPHENO:0051280", + "UPHENO:0051898", + "HP:0011017", + "UPHENO:0034199", + "UPHENO:0051704", + "HP:0011280", + "HP:0002653", "UPHENO:0076703", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", - "HP:0009824", - "UPHENO:0084448", - "UPHENO:0086700", - "UPHENO:0081204", - "HP:0001245", - "HP:0004378", - "HP:0000001", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0001939", - "UPHENO:0001003", - "UPHENO:0012274", - "UPHENO:0086644", - "HP:0011314", - "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", - "UPHENO:0046538", - "HP:0001167", - "HP:0040064", - "UPHENO:0076779", - "UPHENO:0050116", - "UPHENO:0049367", + "UPHENO:0049618", + "HP:0011042", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0051887", + "UPHENO:0034438", + "HP:0001943", + "UPHENO:0051958", + "UPHENO:0068352", + "UPHENO:0081777", + "UPHENO:0066927", + "UPHENO:0081544", + "HP:0006530", + "HP:0004352", + "UPHENO:0079536", + "UPHENO:0034217", + "HP:0010929", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0069254", + "HP:0001871", + "UPHENO:0051186", + "HP:0004322", + "HP:0004323", + "HP:0003149", + "UPHENO:0049628", + "UPHENO:0004459", + "UPHENO:0002411", + "UPHENO:0075666", + "UPHENO:0050080", "UPHENO:0068971", - "UPHENO:0078452", - "UPHENO:0001002", - "UPHENO:0080362", - "HP:0011297", - "HP:0001626", - "HP:0003220", - "UPHENO:0011498", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "UPHENO:0051960", + "UPHENO:0046356", + "UPHENO:0076289", + "UPHENO:0049709", + "UPHENO:0000541", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0034253", + "HP:0001324", + "UPHENO:0082543", + "UPHENO:0068134", + "UPHENO:0067999", + "HP:0000124", + "HP:0010935", + "UPHENO:0078646", + "UPHENO:0034248", + "UPHENO:0068094", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0046283", + "HP:0011277", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0003111", + "HP:0000079", + "HP:0004379", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0079822", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "HP:0012211", + "UPHENO:0051847", + "HP:0001942", + "HP:0001507", + "UPHENO:0076294", + "UPHENO:0002964", + "UPHENO:0084653", + "UPHENO:0002320", + "HP:0430071", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0100529", + "UPHENO:0001005", + "UPHENO:0068036", "UPHENO:0050113", - "HP:0034058", - "UPHENO:0086128", - "UPHENO:0049587", - "HP:0006501", - "UPHENO:0002708", - "HP:0000032", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0001197", - "UPHENO:0050021", - "HP:0045060", - "HP:0034915", - "UPHENO:0002830", - "UPHENO:0086682", - "HP:0025033", - "UPHENO:0050845", - "BFO:0000020", - "UPHENO:0081466", - "HP:0040012", - "HP:0000028", - "UPHENO:0049748", - "UPHENO:0076723", - "UPHENO:0002647", - "UPHENO:0049873", - "HP:0000083", - "UPHENO:0026506", - "HP:0000027", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", + "UPHENO:0051686", + "UPHENO:0001002", + "UPHENO:0046284", + "UPHENO:0068110", + "HP:0001947", + "UPHENO:0051645", + "UPHENO:0020748", + "UPHENO:0002442", + "UPHENO:0001003", + "UPHENO:0054261", "UPHENO:0002536", "UPHENO:0076692", "UPHENO:0080352", - "UPHENO:0026181", - "HP:0003241", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0076727", - "HP:0006265", - "HP:0011425", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0002595", - "UPHENO:0003055", - "HP:0011805", - "HP:0009777", - "UPHENO:0026183", - "HP:0040068", - "HP:0040070", - "UPHENO:0009382", - "UPHENO:0049990", - "UPHENO:0076724", - "HP:0009381", - "UPHENO:0088186", - "HP:0009815", + "HP:0000093", + "HP:0000001", + "HP:0004348", + "UPHENO:0082834", + "HP:0003774", + "UPHENO:0080659", + "UPHENO:0051668", + "UPHENO:0052116", "HP:0000924", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0001172", - "HP:0000118", - "HP:0011842", + "HP:0003330", + "HP:0010930", + "UPHENO:0046348", + "HP:0020129", + "HP:0000077", + "UPHENO:0068089", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0001001", + "UPHENO:0081440", + "UPHENO:0086908", + "HP:0012599", "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0084763", - "UPHENO:0086633", + "HP:0011842", + "HP:0002150", + "HP:0033127", + "BFO:0000001", + "UPHENO:0082539", + "UPHENO:0082538", + "UPHENO:0050433", + "UPHENO:0051763", + "HP:0003011", + "HP:0012337", + "UPHENO:0049904", + "UPHENO:0081550", + "HP:0012591", + "HP:0001939", + "UPHENO:0068064", + "HP:0002748", + "HP:0003126", "UPHENO:0002803", "UPHENO:0002832", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0040072", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0020041", - "UPHENO:0086198", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076718", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0012541", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0049940", - "HP:0010935", - "HP:0010944", - "UPHENO:0001072", - "UPHENO:0005651", - "UPHENO:0084132", - "UPHENO:0084124", - "HP:0008669", - "HP:0012210", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "HP:0010945", - "UPHENO:0080377", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0002786", - "UPHENO:0075893", - "HP:0000079", - "UPHENO:0001478", - "UPHENO:0002598", - "UPHENO:0081792", - "HP:0000126", - "UPHENO:0005597", - "UPHENO:0085194", - "HP:0004097", - "HP:0000025", - "UPHENO:0020950", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "HP:0100871", - "UPHENO:0087427", + "UPHENO:0081547", + "UPHENO:0068511", + "BFO:0000002", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0012072", + "HP:0003110", + "UPHENO:0034391", + "UPHENO:0010763", + "HP:0032943", + "UPHENO:0051191", + "HP:0011036", + "HP:0010967", + "HP:0034359", + "UPHENO:0054299", + "UPHENO:0051635", + "HP:0002157", + "HP:0000002", + "HP:0033354", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0068058", + "UPHENO:0080658", "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "HP:0012243", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0049970", - "UPHENO:0049701", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "UPHENO:0052178", - "UPHENO:0087802", - "UPHENO:0085873", - "UPHENO:0081755", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0050101", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", + "UPHENO:0078554", + "UPHENO:0082943", + "HP:0003646", + "HP:0031980", + "UPHENO:0046362", + "HP:0002900", + "UPHENO:0080556", + "HP:0003155", + "UPHENO:0068495", + "HP:0040156", + "UPHENO:0052008", + "UPHENO:0076299", + "UPHENO:0051670", + "UPHENO:0046286", + "BFO:0000020", + "HP:0011032", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0019970", + "HP:0003355", + "UPHENO:0051930", + "HP:0012252", + "UPHENO:0066943", + "UPHENO:0051709", + "HP:0001992", + "HP:0002086", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0078592", + "UPHENO:0077821", + "UPHENO:0068169", + "HP:0002909", "UPHENO:0002642", "UPHENO:0081423", - "HP:0034057", + "UPHENO:0084541", "UPHENO:0081424", - "UPHENO:0002880", "UPHENO:0075159", - "UPHENO:0000541", + "HP:0012598", + "UPHENO:0087433", + "UPHENO:0076286", + "UPHENO:0080351", + "UPHENO:0020584", + "UPHENO:0050619", + "HP:0003109", + "HP:0001510", + "UPHENO:0004536", + "UPHENO:0049873", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0012541", + "UPHENO:0068247", + "UPHENO:0068565", + "UPHENO:0051801", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "HP:0000117", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0004325", + "HP:0012622", + "UPHENO:0046344", + "UPHENO:0051678", + "HP:0003076", + "UPHENO:0000543", + "UPHENO:0068102", + "HP:0002206", + "PATO:0000001", + "HP:0002088", + "UPHENO:0051766", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0079824", + "HP:0011014", + "UPHENO:0080555", + "HP:0011015", + "HP:0004349", + "HP:0012603", + "UPHENO:0051866", + "UPHENO:0050116", + "HP:0012606", + "HP:0001941", + "HP:0003648", + "UPHENO:0051804", + "HP:0004912", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0051736", + "HP:0012379", + "UPHENO:0051588", + "UPHENO:0049748", + "UPHENO:0082875", + "UPHENO:0034276", + "UPHENO:0068251", + "UPHENO:0024906", + "UPHENO:0034149", + "UPHENO:0051712", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0066781", + "HP:0034684", + "HP:0010932", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0078616", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", + "Proximal renal tubular acidosis", + "Generalized aminoaciduria", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "increased level of purines in independent continuant", + "increased level of uric acid in urine", + "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "abnormal independent continuant hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Hyperchloremic metabolic acidosis", + "Pain", + "Constitutional symptom", + "abnormality of musculoskeletal system physiology", + "abnormal urine potassium atom level", + "Abnormal urine potassium concentration", + "Abnormal circulating fatty-acid concentration", + "abnormal amino acid derivative level", + "abnormal monocarboxylic acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "abnormal carnitine metabolic process", + "Impaired renal tubular reabsorption of phosphate", + "Hyperuricosuria", + "Abnormal circulating enzyme concentration or activity", + "Abnormal renal tubular resorption", + "Rickets", + "Abnormal blood monovalent inorganic cation concentration", + "increased level of organic acid in urine", + "Abnormal blood potassium concentration", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium atom level", + "decreased level of potassium atom in blood", + "abnormal phenotype by ontology source", + "abnormal urine phosphate level", + "Abnormal glucose homeostasis", + "increased level of chemical entity in blood", + "Hyperphosphaturia", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "increased level of phosphate in urine", + "abnormal potassium atom level", + "abnormal skeletal system", + "abnormal renal system process", + "Renal tubular dysfunction", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "decreased level of uric acid in blood", "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", + "Weight loss", + "abnormal kidney", + "increased level of calcium atom in urine", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "Abnormal blood phosphate concentration", + "Bicarbonate-wasting renal tubular acidosis", + "Abnormality of blood and blood-forming tissues", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Decreased anatomical entity mass", + "Bicarbonaturia", + "increased bodily fluid acid level", + "decreased level of phosphate in blood", + "Elevated urinary carboxylic acid", + "Abnormal circulating metabolite concentration", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal role blood level", + "Renal insufficiency", + "Dehydration", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "decreased level of amino-acid betaine", + "Abnormal urine metabolite level", + "abnormal carbohydrate homeostasis", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "Abnormal blood glucose concentration", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "abnormal homeostatic process", + "decreased muscle organ strength", + "decreased role blood level", + "abnormal blood phosphate level", + "increased level of protein polypeptide chain in urine", + "abnormal renal absorption", + "Abnormality of bone mineral density", + "Muscle weakness", + "decreased anatomical entity strength", + "Bone pain", + "Abnormality of the upper urinary tract", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", + "abnormal independent continuant monoatomic ion level", + "abnormal multicellular organism chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "abnormal monoatomic cation homeostasis", + "increased level of potassium atom in urine", "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", - "abnormal cellular component organization", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "decreased level of potassium atom in independent continuant", + "Metabolic acidosis", + "increased level of monosaccharide in urine", + "abnormal anatomical entity", + "Abnormality of urine homeostasis", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "abnormal blood potassium(1+) level", + "Acidosis", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "Abnormal urine protein level", + "Abnormal circulating purine concentration", + "abnormal independent continuant glucose level", + "Reduced bone mineral density", "abnormality of renal system physiology", "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", - "decreased length of manual digit", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", - "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", + "abnormal amino-acid betaine level", "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", + "abnormal independent continuant amino acid level", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "abnormal urine chemical entity level", + "All", + "increased level of phosphate in independent continuant", + "abnormal lung morphology", + "abnormal bone element mass density", + "increased level of calcium atom in independent continuant", + "decreased role independent continuant level", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "increased level of monosaccharide in independent continuant", + "abnormal cell", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "decreased height of the multicellular organism", + "abnormality of muscle organ physiology", + "Growth delay", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "increased level of protein", + "Hypercalciuria", + "abnormal renal system", + "abnormal small molecule metabolic process", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "Low-molecular-weight proteinuria", + "Abnormality of acid-base homeostasis", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "Abnormal circulating nitrogen compound concentration", + "Abnormal blood cation concentration", "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", + "abnormal skeletal system morphology", + "Proteinuria", + "Abnormal cellular physiology", + "increased level of chemical entity", + "abnormal purine nucleobase metabolic process", + "increased level of rac-lactic acid in urine", + "increased independent continuant acid level", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "abnormal independent continuant carbohydrate level", + "Decreased bone element mass density", + "decreased size of the multicellular organism", + "abnormal acid bodily fluid level", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "entity", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", - "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "Short finger", - "thenar eminence hypoplasia", - "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", + "increased level of rac-lactic acid in independent continuant", + "increased level of glucose in independent continuant", + "increased level of organic molecular entity in independent continuant", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "increased level of glucose in urine", + "Abnormal bone ossification", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "abnormal respiratory system morphology", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal protein level", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "increased level of organic acid in independent continuant", + "Aminoaciduria", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "increased level of carboxylic acid in independent continuant", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "increased independent continuant base level", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", + "increased level of nitrogen molecular entity in blood", + "Abnormality of the musculature", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Decreased body weight", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", "abnormal size of multicellular organism", + "abnormal metabolite independent continuant level", "decreased height of the anatomical entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "Abnormality of body height", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", + "abnormally decreased functionality of the anatomical entity", "Short stature", - "decreased size of the multicellular organism", + "decreased anatomical entity mass", + "Growth abnormality", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", + "abnormal anatomical entity morphology in the independent continuant", + "Osteomalacia", + "delayed biological_process", "abnormal growth", - "abnormal cardiovascular system", + "abnormal blood uric acid level", "delayed growth", + "abnormal independent continuant protein polypeptide chain level", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "non-functional kidney", + "Renal phosphate wasting", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "abnormality of anatomical entity mass", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "abnormal calcium atom level", + "abnormal regulation of body fluid levels", + "Abnormal lung morphology", + "abnormal blood nitrogen molecular entity level", + "Abnormal respiratory system morphology", + "lung fibrosis", + "continuant", + "Abnormal circulating nucleobase concentration", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "abnormal urine sodium atom level", + "abnormal independent continuant sodium atom level", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "Abnormal urine sodium concentration", + "non-functional anatomical entity", + "abnormal sodium atom level", + "Hypophosphatemic rickets", + "decreased level of purines", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "Abnormality of fluid regulation", + "abnormal nucleobase metabolic process", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal primary metabolic process", + "Hypouricemia", + "abnormal metabolic process", + "abnormal blood monoatomic ion level", + "decreased level of uric acid in independent continuant", + "Azotemia", + "Hypokalemia", + "Decreased circulating purine concentration", ], }, { - "id": "MONDO:0013499", + "id": "MONDO:0014985", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "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"], + "name": "Fanconi anemia complementation group V", + "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", "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:0009777", - "HP:0000957", - "HP:0000252", - "HP:0002860", - "HP:0002984", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", + "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", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", + "Neutropenia", "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", + "Thrombocytopenia", + "Bone marrow hypocellularity", + "Elevated circulating alpha-fetoprotein concentration", "Chromosomal breakage induced by crosslinking agents", + "Anemia", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", ], - "has_phenotype_count": 20, + "has_phenotype_count": 8, "has_phenotype_closure": [ - "UPHENO:0002597", - "HP:0000078", - "UPHENO:0003055", - "HP:0000080", - "UPHENO:0053580", - "UPHENO:0050101", - "HP:0012874", - "HP:0000812", - "UPHENO:0081755", - "HP:0000811", - "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0002595", - "UPHENO:0049367", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "UPHENO:0085874", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0005651", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0082875", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0052178", - "UPHENO:0002240", + "UPHENO:0012541", + "UPHENO:0000543", + "HP:0004322", "HP:0000002", - "UPHENO:0080352", - "UPHENO:0081424", + "HP:0001507", + "UPHENO:0068971", + "UPHENO:0081423", + "UPHENO:0088162", + "HP:0001877", + "HP:0001903", + "UPHENO:0088170", "HP:0011017", - "HP:0003221", + "UPHENO:0078606", + "UPHENO:0049587", "UPHENO:0050116", - "HP:0001939", "UPHENO:0050021", + "UPHENO:0050121", "UPHENO:0049990", + "HP:0001510", + "UPHENO:0049873", "UPHENO:0049748", - "UPHENO:0050113", + "HP:0040012", "HP:0003220", - "HP:0000079", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0080382", - "UPHENO:0041629", - "UPHENO:0082129", - "HP:0012210", - "HP:0000085", - "UPHENO:0002332", - "UPHENO:0087427", - "HP:0100542", - "UPHENO:0049940", - "HP:0010935", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "UPHENO:0087430", - "UPHENO:0065599", - "HP:0000436", - "UPHENO:0084715", - "HP:0000414", - "UPHENO:0088168", - "HP:0000086", - "UPHENO:0001072", - "UPHENO:0053298", - "UPHENO:0084727", - "HP:0009381", - "UPHENO:0046624", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076803", - "UPHENO:0083646", - "HP:0034261", - "HP:0004322", - "UPHENO:0002833", - "HP:0009118", - "HP:0011821", - "UPHENO:0046411", - "HP:0000277", - "HP:0025031", - "HP:0000347", - "UPHENO:0081786", - "HP:0000252", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0054567", - "UPHENO:0004523", - "UPHENO:0085873", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0010461", - "UPHENO:0050625", - "HP:0000929", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0087547", - "UPHENO:0088170", - "UPHENO:0001001", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0003026", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0002635", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0088162", - "HP:0000953", - "HP:0025033", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0080377", - "UPHENO:0075195", - "UPHENO:0080662", - "UPHENO:0081435", - "UPHENO:0021791", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "HP:0000032", + "UPHENO:0077826", + "UPHENO:0081547", + "HP:0004364", + "UPHENO:0051801", + "UPHENO:0048751", + "UPHENO:0077821", + "UPHENO:0051680", + "HP:0010876", + "UPHENO:0046284", + "UPHENO:0088318", + "UPHENO:0084928", + "UPHENO:0085195", + "BFO:0000002", + "UPHENO:0085076", + "UPHENO:0077813", + "UPHENO:0085984", + "UPHENO:0085371", + "HP:0032251", + "HP:0020047", + "HP:0011893", + "UPHENO:0049700", + "UPHENO:0085330", "UPHENO:0022529", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0050121", - "HP:0002692", - "UPHENO:0074572", - "UPHENO:0080221", - "HP:0000957", - "UPHENO:0086700", + "UPHENO:0051936", + "UPHENO:0075220", + "UPHENO:0049874", + "UPHENO:0086049", + "BFO:0000001", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085068", + "HP:0001939", + "UPHENO:0088335", + "UPHENO:0050113", + "HP:0000929", + "HP:0005528", + "HP:0032309", + "UPHENO:0080351", "UPHENO:0020584", - "HP:0002813", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0050845", - "UPHENO:0034770", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "HP:0002977", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0088116", - "UPHENO:0054970", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", + "UPHENO:0076799", + "UPHENO:0006910", + "UPHENO:0051804", + "HP:0012639", + "UPHENO:0085144", + "UPHENO:0086045", + "UPHENO:0086016", + "HP:0003221", + "UPHENO:0085356", "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0087501", + "UPHENO:0085302", + "UPHENO:0085344", + "HP:0001881", "HP:0000707", - "UPHENO:0086172", - "HP:0001034", - "HP:0001873", - "UPHENO:0002830", + "UPHENO:0088176", + "UPHENO:0002948", + "UPHENO:0000541", + "UPHENO:0086005", + "HP:0000118", "UPHENO:0076675", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", + "UPHENO:0085042", + "UPHENO:0004523", + "HP:0002715", + "UPHENO:0085118", + "HP:0010974", "HP:0012443", - "UPHENO:0026181", - "UPHENO:0084987", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0030791", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0001871", - "UPHENO:0079876", - "HP:0000118", - "UPHENO:0080165", - "HP:0001172", - "UPHENO:0076724", - "UPHENO:0085195", - "HP:0011961", - "UPHENO:0087006", - "HP:0032039", + "PATO:0000001", + "UPHENO:0004459", + "UPHENO:0076286", "UPHENO:0077426", - "HP:0000240", - "HP:0000077", - "UPHENO:0002905", - "HP:0012733", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0059829", - "BFO:0000020", - "UPHENO:0074589", - "HP:0200007", - "HP:0000153", - "HP:0006265", + "HP:0001871", "UPHENO:0075696", - "HP:0011842", - "UPHENO:0081788", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0026183", - "HP:0040068", - "HP:0031704", - "HP:0040070", - "HP:0005922", - "HP:0001045", - "HP:0009601", - "HP:0001507", - "HP:0045060", - "UPHENO:0076723", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0049700", - "HP:0005927", - "HP:0000125", - "HP:0002817", - "HP:0002984", - "HP:0001876", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", - "HP:0040195", + "HP:0001875", + "UPHENO:0076289", + "UPHENO:0086172", "UPHENO:0001005", - "HP:0009121", + "HP:0000001", + "UPHENO:0077822", + "UPHENO:0086019", "UPHENO:0011498", - "HP:0009777", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0085875", - "HP:0011355", - "HP:0009116", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0006910", - "UPHENO:0002907", - "UPHENO:0074575", - "HP:0002011", - "HP:0012145", - "UPHENO:0084766", - "UPHENO:0050008", - "UPHENO:0087518", - "UPHENO:0008523", - "UPHENO:0050108", - "UPHENO:0041075", - "UPHENO:0085144", - "UPHENO:0076703", - "UPHENO:0002371", - "BFO:0000001", + "UPHENO:0081424", + "HP:0009121", + "UPHENO:0085354", "UPHENO:0088166", - "HP:0040064", - "HP:0001167", - "PATO:0000001", - "UPHENO:0026028", - "HP:0011844", - "UPHENO:0080079", - "HP:0001155", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080200", + "UPHENO:0076703", + "UPHENO:0001003", + "HP:0045056", + "UPHENO:0015280", + "UPHENO:0086176", + "HP:0032180", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0050845", + "HP:0430071", + "HP:0011991", + "BFO:0000020", + "UPHENO:0002536", + "HP:0040195", + "UPHENO:0075195", + "UPHENO:0086173", + "UPHENO:0001001", + "UPHENO:0076791", + "HP:0007364", + "UPHENO:0051668", + "HP:0002977", + "UPHENO:0087907", + "HP:0001911", + "UPHENO:0002764", + "HP:0001874", "UPHENO:0076805", - "HP:0025461", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", - "HP:0011793", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026506", - "HP:0008069", - "UPHENO:0021561", - "UPHENO:0085189", - "HP:0000315", - "UPHENO:0085118", - "UPHENO:0012274", - "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0046753", - "UPHENO:0046538", - "UPHENO:0068971", - "UPHENO:0081204", - "UPHENO:0076761", - "HP:0009821", - "HP:0025354", - "HP:0000366", - "HP:0005773", - "UPHENO:0005597", - "UPHENO:0081792", - "HP:0006503", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0054957", - "UPHENO:0004459", - "HP:0040072", - "UPHENO:0002910", - "UPHENO:0076727", - "UPHENO:0086045", - "UPHENO:0081451", - "UPHENO:0087349", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0081091", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0084928", - "HP:0002973", - "HP:0011121", - "UPHENO:0069294", - "HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0010938", - "HP:0009778", - "HP:0006496", - "UPHENO:0075878", - "UPHENO:0020950", - "UPHENO:0054577", - "HP:0030669", + "HP:0033127", + "UPHENO:0087123", "UPHENO:0087089", - "UPHENO:0003085", - "HP:0002715", - "HP:0008050", - "UPHENO:0020888", - "UPHENO:0075997", - "UPHENO:0081314", - "HP:0009826", - "UPHENO:0075198", - "UPHENO:0041821", - "HP:0045025", - "HP:0000271", - "UPHENO:0001002", - "UPHENO:0087924", - "HP:0012745", - "HP:0005105", - "UPHENO:0000541", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0086005", - "UPHENO:0086201", - "HP:0001510", - "UPHENO:0000543", - "UPHENO:0049874", - "UPHENO:0086049", - "UPHENO:0002948", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0075902", - "HP:0001881", - "UPHENO:0009382", - "UPHENO:0085068", + "HP:0011842", + "HP:0000240", + "UPHENO:0086589", + "HP:0012145", + "HP:0002011", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0020888", + "UPHENO:0069254", + "HP:0002060", + "HP:0000152", + "HP:0010987", + "HP:0000924", + "UPHENO:0081435", + "UPHENO:0080079", + "HP:0001873", + "HP:0000252", + "UPHENO:0087518", + "HP:0100547", + "UPHENO:0046378", + "UPHENO:0002964", + "UPHENO:0001002", + "UPHENO:0002844", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0080200", + "HP:0006254", + "UPHENO:0081566", + "HP:0011873", + "UPHENO:0051612", + "UPHENO:0080352", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0085405", + "HP:0011875", + "UPHENO:0075159", "UPHENO:0087339", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0001872", "UPHENO:0087355", - "UPHENO:0049873", "HP:0005561", - "UPHENO:0084457", - "HP:0000951", - "HP:0000581", - "UPHENO:0002828", - "UPHENO:0081141", - "HP:0011873", - "HP:0020047", - "HP:0011893", - "HP:0032251", - "UPHENO:0085302", - "UPHENO:0085371", - "UPHENO:0085984", - "UPHENO:0086173", - "UPHENO:0069249", - "UPHENO:0080087", - "UPHENO:0076800", - "HP:0031816", - "UPHENO:0080351", - "HP:0009122", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0051763", + "UPHENO:0084987", + "UPHENO:0048707", + "HP:0012130", + "UPHENO:0046362", ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", - "abnormally localised anatomical entity", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "abnormally localised anatomical entity in independent continuant", - "absent sperm in the independent continuant", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively developmental process", - "absent gamete", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "changed developmental process rate", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", + "abnormal growth", "decreased size of the multicellular organism", + "delayed biological_process", + "Growth delay", "abnormality of anatomical entity height", "abnormality of multicellular organism height", + "Abnormality of body height", + "decreased height of the anatomical entity", "abnormal size of multicellular organism", "abnormal nitrogen compound metabolic process", "abnormal organelle organization", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal chromatin organization", + "Abnormality of chromosome stability", "Chromosome breakage", "abnormal programmed DNA elimination by chromosome breakage", "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Pelvic kidney", + "Abnormal erythrocyte morphology", "Abnormal cellular physiology", + "abnormal biological_process", "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Abnormality of the urinary system", - "shape anatomical entity", - "abnormal genitourinary system", - "Abnormality of the kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "shape kidney", - "abnormality of reproductive system physiology", - "absent sperm", - "Horseshoe kidney", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", + "abnormal protein level", + "abnormal independent continuant protein polypeptide chain level", + "abnormal cellular metabolic process", + "increased level of alpha-fetoprotein", + "increased level of chemical entity", + "abnormal blood protein polypeptide chain level", + "abnormal blood nitrogen molecular entity level", + "abnormal role bodily fluid level", + "abnormal blood alpha-fetoprotein level", + "abnormally decreased number of anatomical entity in the independent continuant", + "Neutropenia", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", "abnormal erythrocyte morphology", - "Abnormality of body height", - "abnormal external nose morphology", - "Abnormality of the nose", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "increased size of the anatomical entity in independent continuant", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "abnormal mandible morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "aplasia or hypoplasia of mandible", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "Morphological central nervous system abnormality", - "abnormal facial skeleton morphology", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "aplasia or hypoplasia of telencephalon", - "Decreased head circumference", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of anatomical entity", + "Abnormality of the immune system", + "Abnormal leukocyte count", + "abnormal granulocyte morphology", "delayed growth", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Squamous cell carcinoma", - "abnormal integument", - "abnormal biological_process", - "Hyperpigmentation of the skin", - "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Abnormality of skin pigmentation", - "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Cafe-au-lait spot", - "Macule", + "Decreased head circumference", + "abnormal DNA metabolic process", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormally decreased number of myeloid cell", + "Abnormal circulating alpha-fetoprotein concentration", + "abnormal alpha-fetoprotein level", + "abnormal central nervous system morphology", "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "Short palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal digit", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", + "abnormal immune system", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Abnormal cerebral morphology", + "abnormal independent continuant protein level", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of skull size", + "Abnormality of neutrophils", + "abnormally decreased number of cell in the independent continuant", + "phenotype", + "quality", + "Growth abnormality", + "abnormal cellular process", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "Abnormality of digestive system morphology", - "abnormal limb", - "Abnormal appendicular skeleton morphology", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "Short stature", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal head morphology", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "abnormal neutrophil", + "Abnormal cell morphology", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal cellular component organization", + "specifically dependent continuant", + "Abnormal circulating organic compound concentration", + "abnormal immune system morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "Thrombocytopenia", + "Abnormal forebrain morphology", + "Anemia", + "Abnormality of the head", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype", + "phenotype by ontology source", + "abnormal leukocyte morphology", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal nervous system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic system", + "entity", + "Abnormality of blood and blood-forming tissues", + "abnormal cell morphology", + "abnormal size of skull", + "abnormally decreased number of hematopoietic cell", "abnormal head", - "abnormal location of anatomical entity", - "Hypermelanotic macule", "abnormal bone marrow morphology", - "increased size of the anatomical entity", - "Abnormal nervous system morphology", - "abnormal limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "increased qualitatively biological_process in independent continuant", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "increased biological_process", "abnormal myeloid cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "absent anatomical entity", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", "abnormal forebrain morphology", - "absent germ cell", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "Abnormal ear physiology", "Abnormal myeloid cell morphology", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of skull size", - "abnormal face morphology", - "Limb undergrowth", - "abnormal platelet", - "abnormal reproductive system", - "Abnormality of head or neck", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal phenotype by ontology source", - "absent manual digit", + "abnormally decreased number of leukocyte in the independent continuant", "abnormal anatomical entity morphology in the independent continuant", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "absent digit", - "quality", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormality of the skin", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "abnormal sensory perception", - "abnormal manus", - "Finger aplasia", - "abnormal skull morphology", - "Abnormal platelet morphology", - "mandible hypoplasia", - "phenotype by ontology source", - "aplastic manual digit 1", - "Aplasia/Hypoplasia of the thumb", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "abnormal arm", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "decreased biological_process", - "Short stature", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased length of palpebral fissure", + "Abnormal neutrophil count", "abnormal blood cell", - "abnormal pigmentation", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", + "All", + "continuant", + "abnormal craniocervical region morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular immune system morphology", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal anatomical entity morphology in the brain", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "abnormal telencephalon morphology", + "Abnormal leukocyte morphology", + "abnormal brain morphology", + "Abnormal skull morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "Abnormal circulating metabolite concentration", + "Abnormality of head or neck", + "Morphological central nervous system abnormality", "decreased height of the multicellular organism", - "Short long bone", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Abnormality of the head", - "Neoplasm of the skin", - "decreased length of long bone", - "abnormal radius bone morphology", - "abnormal face", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Aplasia/Hypoplasia of the radius", - "anatomical entity hypoplasia in independent continuant", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "phenotype", - "Abnormal cell morphology", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal reproductive system morphology", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal palpebral fissure", - "abnormally decreased number of cell", - "absent sperm in the semen", - "decreased length of anatomical entity", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "abnormal limb long bone morphology", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "abnormal bone marrow cell", + "abnormal chromatin organization", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Aplasia/Hypoplasia involving the central nervous system", "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "decreased size of the mandible", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased spermatogenesis", - "abnormal kidney morphology", - "decreased width of the palpebral fissure", - "Abnormality of the palpebral fissures", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormal eyelid morphology", - "abnormal hematopoietic system", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal ocular adnexa", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Narrow palpebral fissure", - "decreased height of the anatomical entity", - "Abnormality of the face", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Growth delay", - "abnormal cell", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical enitites of type platelet", + "decreased size of the anatomical entity", + "Abnormal granulocyte count", + "abnormally decreased number of neutrophil", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "Abnormality of the nervous system", + "abnormal erythroid lineage cell morphology", + "increased level of protein", + "abnormal skull morphology", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", "abnormally decreased number of platelet", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type platelet", "abnormal platelet morphology", - "abnormal sensory perception of sound", "Abnormal platelet count", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Pancytopenia", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Anemia", - "abnormal bone marrow cell", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", + "abnormal platelet", "Abnormality of thrombocytes", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Abnormality of the digestive system", - "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "abnormal mouth morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "bone element hypoplasia in face", - ], - }, - { - "id": "MONDO:0024525", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], - "provided_by": "phenio_nodes", - "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", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", - "HP:0002748", - "HP:0034359", - "HP:0003076", - "HP:0003155", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - ], - "has_phenotype_count": 39, - "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", - "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", - "UPHENO:0068442", - "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", - "UPHENO:0081777", - "UPHENO:0066927", - "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", + "abnormal bone marrow cell morphology", + "Bone marrow hypocellularity", + "Abnormality of bone marrow cell morphology", + "abnormal hematopoietic system morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal independent continuant alpha-fetoprotein level", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "abnormal chemical entity level", + "abnormal role independent continuant level", + ], + }, + { + "id": "MONDO:0014987", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group U", + "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", + "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:0009777", + "HP:0011835", + "HP:0000252", + "HP:0002984", + "HP:0001510", + "HP:0003974", + "HP:0001643", + "HP:0012799", + "HP:0010035", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Ectopic kidney", + "Absent thumb", + "Absent scaphoid", + "Microcephaly", + "Hypoplasia of the radius", + "Growth delay", + "Absent radius", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "HP:0005914", + "HP:0010048", + "HP:0009659", + "HP:0009851", + "UPHENO:0080191", + "HP:0010026", + "HP:0010035", + "HP:0010009", + "UPHENO:0084458", + "HP:0005918", + "UPHENO:0026055", + "UPHENO:0080168", + "UPHENO:0081515", + "HP:0010242", + "UPHENO:0025593", + "UPHENO:0076755", + "HP:0009802", + "UPHENO:0021800", + "HP:0009602", + "UPHENO:0081455", + "HP:0012638", + "UPHENO:0080555", + "UPHENO:0002433", + "UPHENO:0082875", + "UPHENO:0080556", + "HP:0012799", + "UPHENO:0078730", + "UPHENO:0081700", + "UPHENO:0081709", + "HP:0006824", + "UPHENO:0087369", + "HP:0010628", + "UPHENO:0026144", + "UPHENO:0076729", + "HP:0009825", + "HP:0001191", + "HP:0009121", + "HP:0033353", + "HP:0009823", + "UPHENO:0087334", + "HP:0002011", + "UPHENO:0001001", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0080099", + "HP:0007364", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0081511", + "HP:0001155", + "HP:0005922", + "UPHENO:0004508", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0084766", + "UPHENO:0016527", + "UPHENO:0022529", + "UPHENO:0080173", + "UPHENO:0031839", + "HP:0009601", + "HP:0100542", + "HP:0001507", + "UPHENO:0025945", + "UPHENO:0080114", + "UPHENO:0006910", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0003026", + "UPHENO:0011498", + "HP:0004243", + "UPHENO:0002696", "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", + "UPHENO:0087309", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0008523", + "UPHENO:0087518", + "HP:0009380", + "UPHENO:0084448", + "HP:0009824", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "HP:0009658", + "HP:0000924", + "HP:0009834", + "UPHENO:0081435", + "UPHENO:0002830", + "UPHENO:0079870", + "UPHENO:0086700", + "UPHENO:0078606", + "HP:0000001", + "HP:0025354", + "HP:0009821", + "UPHENO:0002973", + "HP:0000301", + "UPHENO:0080126", + "UPHENO:0076799", + "UPHENO:0080187", + "HP:0001939", + "HP:0010827", + "HP:0000271", + "HP:0003019", + "HP:0004231", + "UPHENO:0076727", + "UPHENO:0001003", + "UPHENO:0050121", + "HP:0040070", + "HP:0000707", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0076779", "UPHENO:0002816", - "HP:0001824", - "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", + "UPHENO:0053580", + "UPHENO:0079876", + "UPHENO:0050116", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0021840", "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", - "HP:0002148", - "UPHENO:0050121", - "UPHENO:0046283", - "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", - "HP:0003111", + "UPHENO:0001002", + "HP:0011297", + "UPHENO:0076723", + 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"UPHENO:0002642", + "HP:0001627", + "UPHENO:0081790", + "UPHENO:0087006", + "UPHENO:0076767", + "UPHENO:0002896", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0012210", + "UPHENO:0049990", + "UPHENO:0075902", + "UPHENO:0080160", + "HP:0002060", + "UPHENO:0026181", + "HP:0005916", + "HP:0006265", + "HP:0006502", "UPHENO:0075696", "HP:0011842", - "HP:0002150", + "UPHENO:0087089", + "UPHENO:0086635", "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", - "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", - "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", - "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", - "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", + "HP:0011805", + "HP:0009777", + "UPHENO:0026023", + "UPHENO:0076702", + "UPHENO:0009382", + "UPHENO:0087186", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0080362", + "UPHENO:0004523", + "HP:0001167", + "HP:0040064", + "HP:0009810", + "UPHENO:0001005", + "HP:0040195", + "HP:0009767", "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", - "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0001992", - "HP:0002086", + "UPHENO:0002908", + "HP:0012443", + "HP:0002977", + "UPHENO:0002764", + "UPHENO:0076805", "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", + "UPHENO:0026128", + "HP:0000152", + "BFO:0000002", + "HP:0012639", + "UPHENO:0020888", + "UPHENO:0003587", + "UPHENO:0075220", + "UPHENO:0076772", + "UPHENO:0080200", + "UPHENO:0012274", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0087907", + "HP:0006501", + "HP:0009826", + "UPHENO:0009341", + "UPHENO:0046538", + "UPHENO:0081204", + "UPHENO:0026001", + "UPHENO:0081792", + "UPHENO:0080164", + "HP:0000234", + "UPHENO:0087018", + "HP:0006503", + "HP:0009815", + "UPHENO:0088186", + "UPHENO:0046505", + "HP:0040072", + "UPHENO:0081521", + "UPHENO:0002910", + "HP:0030319", + "UPHENO:0020041", + "UPHENO:0076710", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", + "HP:0005773", + "HP:0031910", + "UPHENO:0000541", "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", - "UPHENO:0050116", - "HP:0012606", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", - "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", - "UPHENO:0051712", - "UPHENO:0049587", - "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616", - ], - "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", - "Pain", - "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", - "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", + "HP:0003953", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0076703", + "HP:0003974", + "HP:0009822", + "HP:0001626", + "UPHENO:0033572", + "HP:0011835", + "UPHENO:0015324", + "UPHENO:0075655", + "UPHENO:0009338", + "UPHENO:0076765", + "HP:0025015", + "UPHENO:0086797", + "HP:0011603", + "HP:0001643", + "UPHENO:0033603", + "UPHENO:0076810", + "HP:0030680", + "UPHENO:0076776", + "HP:0001324", + "HP:0045010", + "HP:0003011", + "UPHENO:0080083", + "HP:0000252", + "HP:0011799", + "UPHENO:0049874", + "HP:0002597", + "HP:0000759", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0410008", + "HP:0000240", + "UPHENO:0076722", + ], + "has_phenotype_closure_label": [ + "abnormal metacarpal bone of digit 1 morphology", + "Aplasia of the 1st metacarpal", + "aplastic metacarpal bone of digit 1", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "absent metacarpal bone in the metacarpus region", + "aplastic phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "Aplasia of the proximal phalanges of the hand", + "abnormal phalanx morphology", + "Abnormal metacarpal morphology", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "absent metacarpal bone", + "Abnormality of thumb phalanx", + "Aplasia of metacarpal bones", + "aplasia or hypoplasia of metacarpal bone", + "aplasia or hypoplasia of phalanx of manus", + "Abnormality of the face", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "abnormal cranial nerve morphology", + "Abnormal skeletal muscle morphology", + "paralysed cranial nerve", + "absent carpal bone in the independent continuant", + "quality", + "abnormal skeletal joint morphology in the pectoral complex", + "Carpal bone aplasia", + "Abnormal joint morphology", + "Abnormal 1st metacarpal morphology", + "Aplasia/Hypoplasia involving the carpal bones", + "abnormal radiale", + "Abnormality of the urinary system", "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", + "abnormal manual digit morphology in the independent continuant", + "Absent scaphoid", + "aplastic carpal bone", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal manual digit 1 morphology", + "paralysed anatomical entity", "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", - "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", + "absent anatomical entity in the independent continuant", + "Abnormal axial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "abnormal anatomical entity morphology in the manus", + "Short long bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormally localised kidney", + "abnormal metacarpal bone morphology", + "Abnormality of limb bone", + "absent anatomical entity in the skeletal system", + "abnormal autopod region morphology", + "Absent thumb", + "Aplasia/Hypoplasia of the phalanges of the hand", + "aplastic anatomical entity", + "abnormal vasculature", + "Abnormal digit morphology", + "Abnormality of the musculoskeletal system", + "Aplasia/Hypoplasia of fingers", + "Abnormal finger morphology", + "Abnormal thumb morphology", "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", - "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", - "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", - "abnormal homeostatic process", - "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", - "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", - "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", - "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", - "Abnormality of urine homeostasis", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "Abnormality of facial soft tissue", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal skeletal joint morphology in the independent continuant", + "abnormal brain morphology", + "absent metacarpal bone in the independent continuant", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormal forebrain morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "Phenotypic abnormality", + "Aplasia/Hypoplasia of the thumb", "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", - "abnormality of renal system physiology", - "quality", - "abnormal amino-acid betaine level", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", - "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", + "absent digit", + "Absent forearm bone", + "aplasia or hypoplasia of manual digit", + "absent anatomical entity in the metacarpus region", + "abnormal nitrogen compound metabolic process", + "Abnormality of the hand", + "abnormal peripheral nervous system", + "Aplasia/hypoplasia involving bones of the extremities", + "aplastic manual digit 1 phalanx", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Abnormality of the skeletal system", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal kidney morphology", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "abnormal renal system morphology", + "abnormal location of anatomical entity", + "abnormal forelimb morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "Abnormal proximal phalanx morphology of the hand", + "Finger aplasia", + "continuant", + "abnormal craniocervical region morphology", + "abnormal limb", "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", + "absent radiale", + "abnormal peripheral nervous system morphology", + "Abnormal cranial nerve morphology", + "absent anatomical entity in the multicellular organism", + "Abnormality of metabolism/homeostasis", + "abnormal organelle organization", + "Abnormality of the musculature", + "abnormal digit", + "abnormal nerve", + "absent manual digit", + "abnormal phenotype by ontology source", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal limb morphology", + "abnormal primary metabolic process", + "abnormal coronary vessel morphology", + "bone element hypoplasia in independent continuant", + "Unilateral facial palsy", + "Patent ductus arteriosus", + "abnormal carpal region", + "Abnormal upper limb bone morphology", + "agenesis of anatomical entity", + "Abnormality of the scaphoid", + "abnormal manus morphology", + "abnormal cellular process", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal cell", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", + "abnormal proximal phalanx of manus morphology", + "Ectopic kidney", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal carpal bone morphology", "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", + "Abnormal long bone morphology", + "abnormal ductus arteriosus morphology", + "Upper limb undergrowth", + "Abnormality of the upper urinary tract", + "absent forelimb zeugopod bone", + "Partial absence of thumb", + "decreased anatomical entity strength", + "abnormal forebrain morphology", + "Abnormal cranial nerve physiology", + "abnormal skull morphology", + "abnormal anatomical entity topology in independent continuant", + "Growth delay", + "abnormality of muscle organ physiology", "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", + "All", + "Aplasia involving bones of the extremities", + "Abnormality of the wrist", + "Growth abnormality", + "Abnormal localization of kidney", + "absent anatomical entity", + "abnormally localised anatomical entity in independent continuant", "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", - "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", + "Abnormal appendicular skeleton morphology", + "abnormally localised anatomical entity", + "Abnormal blood vessel morphology", + "absent carpal bone in the limb", + "abnormal limb bone morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "decreased length of anatomical entity", + "Muscle weakness", + "Abnormal carpal morphology", + "Abnormality of upper limb joint", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "abnormal carpal bone", + "abnormal axial skeleton plus cranial skeleton morphology", "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", + "abnormal anatomical entity morphology in the brain", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "aplasia or hypoplasia of carpal bone", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "Aplasia/Hypoplasia involving the metacarpal bones", "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", + "decreased muscle organ strength", + "Abnormality of skull size", + "abnormal head morphology", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skull morphology", + "absent radius bone in the independent continuant", + "abnormal blood vessel morphology", + "abnormal incomplete closing of the anatomical entity", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of brain morphology", + "Abnormality of head or neck", + "abnormal skeletal joint morphology", + "Morphological central nervous system abnormality", + "Aplasia involving forearm bones", + "abnormal head", + "abnormal nervous system morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "abnormal long bone morphology", + "Abnormality of the head", + "Abnormality of the nervous system", + "Limb undergrowth", + "decreased length of long bone", + "abnormal radius bone morphology", + "abnormal face", + "Aplasia/Hypoplasia of the radius", + "abnormal artery morphology in the independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Abnormal heart morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal forelimb zeugopod bone", + "Short forearm", "delayed biological_process", - "abnormal growth", - "abnormal blood uric acid level", + "Aplasia involving bones of the upper limbs", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "aplasia or hypoplasia of radius bone", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "Absent radius", + "absent radius bone in the forelimb", + "anatomical entity hypoplasia", + "absent radius bone", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "abnormal opening of the anatomical entity", + "abnormal phalanx of manus morphology", + "abnormal cardiovascular system morphology", + "Abnormal vascular morphology", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "abnormal heart morphology", + "abnormal vascular system morphology", "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", + "abnormal cardiovascular system", + "Abnormal hand morphology", + "Abnormal morphology of the great vessels", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Aplasia of the phalanges of the hand", + "abnormal systemic artery morphology", + "Congenital malformation of the great arteries", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "Hypokalemia", - "Decreased circulating purine concentration", + "abnormal bone of pectoral complex morphology", + "Abnormality of cardiovascular system morphology", + "abnormal great vessel of heart morphology", + "Facial palsy", + "aplasia or hypoplasia of proximal phalanx of manus", + "Abnormality of facial musculature", + "abnormal growth", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormal nervous system physiology", + "abnormal artery morphology", + "abnormality of anatomical entity physiology", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "abnormal cellular component organization", + "Abnormality of the peripheral nervous system", + "abnormal muscle organ morphology", + "abnormal facial nerve", + "abnormal nervous system", + "abnormal musculature", + "Aplasia/hypoplasia involving forearm bones", + "abnormal facial muscle", ], }, ], diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py index f5f1b4d63..10605bbd1 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": 2, + "QTime": 1, "params": { "facet.query": [ 'object_closure:"HP:0000924"', diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py index f1c385ded..033a8c881 100644 --- a/backend/tests/fixtures/search.py +++ b/backend/tests/fixtures/search.py @@ -8,30 +8,6 @@ def search(): "offset": 0, "total": 101, "items": [ - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": None, - "deprecated": None, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], - "uri": None, - "iri": None, - "namespace": "HP", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, { "id": "MONDO:0019391", "category": "biolink:Disease", @@ -2190,174 +2166,6 @@ def search(): "highlight": None, "score": None, }, - { - "id": "Reactome:R-CEL-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:6239", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-MMU-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10090", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-RNO-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10116", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-DDI-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:44689", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-GGA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9031", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-SSC-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9823", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-XTR-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:8364", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, { "id": "MONDO:0009217", "category": "biolink:Disease", @@ -2701,30 +2509,6 @@ def search(): "highlight": None, "score": None, }, - { - "id": "Reactome:R-CFA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9615", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, { "id": "MONDO:0007600", "category": "biolink:Disease", @@ -2750,122 +2534,9352 @@ def search(): "score": None, }, { - "id": "Reactome:R-BTA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9913", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-DRE-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7955", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-DME-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7227", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "Reactome:R-HSA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "GO:0043240", - "category": "biolink:MacromolecularComplex", - "name": "Fanconi anaemia nuclear complex", + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", "full_name": None, "deprecated": None, - "description": "A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage.", - "xref": [], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": ["FA complex", "FA core complex", "FA nuclear complex", "Fanconi anaemia complex"], + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", + ], "uri": None, "iri": None, - "namespace": "GO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", + "Short stature", + "Bone pain", + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria", + ], + "has_phenotype_closure": [ + "UPHENO:0068134", + "UPHENO:0068102", + "UPHENO:0051678", + "HP:0011280", + "UPHENO:0046344", + "HP:0000083", + "HP:0025142", + "UPHENO:0049874", + "HP:0000002", + "HP:0001507", + "UPHENO:0020584", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0081423", + "HP:0004364", + "UPHENO:0068533", + "UPHENO:0081424", + "UPHENO:0082534", + "UPHENO:0051648", + "UPHENO:0068384", + "UPHENO:0081550", + "UPHENO:0051680", + "UPHENO:0068068", + "HP:0012337", + "UPHENO:0051630", + "HP:0033331", + "HP:0003165", + "UPHENO:0051936", + "UPHENO:0076285", + "UPHENO:0051612", + "HP:0001948", + "UPHENO:0068472", + "UPHENO:0086128", + "UPHENO:0051741", + "UPHENO:0068477", + "HP:0003076", + "UPHENO:0080659", + "UPHENO:0080658", + "UPHENO:0068058", + "HP:0002653", + "UPHENO:0051635", + "UPHENO:0051712", + "UPHENO:0051640", + "UPHENO:0077826", + "UPHENO:0068247", + "UPHENO:0081547", + "UPHENO:0068064", + "UPHENO:0080638", + "UPHENO:0078589", + "UPHENO:0050116", + "UPHENO:0051628", + "UPHENO:0078628", + "HP:0002157", + "HP:0100530", + "UPHENO:0076287", + "UPHENO:0068047", + "HP:0000818", + "HP:0000117", + "UPHENO:0051709", + "UPHENO:0051804", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0034253", + "UPHENO:0051960", + "UPHENO:0068144", + "UPHENO:0068174", + "HP:0012591", + "HP:0001939", + "UPHENO:0086132", + "HP:0010876", + "HP:0003077", + "HP:0003110", + "BFO:0000002", + "UPHENO:0002832", + "HP:0033127", + "HP:0012599", + "HP:0002150", + "HP:0011842", + "UPHENO:0002332", + "HP:0000114", + "UPHENO:0068104", + "UPHENO:0002642", + "UPHENO:0001001", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0000079", + "HP:0004322", + "UPHENO:0052038", + "UPHENO:0068054", + "UPHENO:0051186", + "UPHENO:0082875", + "HP:0003111", + "UPHENO:0080643", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0076289", + "HP:0003330", + "UPHENO:0068971", + "UPHENO:0050080", + "UPHENO:0082536", + "UPHENO:0051864", + "HP:0032245", + "UPHENO:0002411", + "UPHENO:0046362", + "UPHENO:0049723", + "HP:0000938", + "BFO:0000001", + "HP:0000924", + "UPHENO:0052116", + "UPHENO:0051668", + "HP:0000118", + "HP:0004360", + "UPHENO:0034391", + "UPHENO:0081546", + "HP:0004348", + "HP:0000001", + "UPHENO:0080352", + "UPHENO:0068442", + "HP:0000093", + "UPHENO:0076692", + "HP:0003117", + "PATO:0000001", + "UPHENO:0002442", + "UPHENO:0068049", + "UPHENO:0049587", + "UPHENO:0001002", + "UPHENO:0051763", + "UPHENO:0082539", + "UPHENO:0082538", + "HP:0032369", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0051686", + "UPHENO:0001005", + "HP:0100529", + "UPHENO:0076286", + "UPHENO:0004459", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0082541", + "HP:0100511", + "HP:0031415", + "UPHENO:0051900", + "UPHENO:0003116", + "UPHENO:0068538", + "UPHENO:0051847", + "HP:0012211", + "UPHENO:0049618", + "UPHENO:0081548", + "UPHENO:0076703", + "HP:0430071", + "BFO:0000020", + "UPHENO:0001003", + "UPHENO:0082540", + "UPHENO:0046286", + "UPHENO:0049628", + "UPHENO:0002536", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0051670", + "HP:0011277", + "UPHENO:0084653", + "UPHENO:0048763", + "HP:0001992", + "HP:0002148", + "UPHENO:0069254", + "UPHENO:0075902", + "UPHENO:0066739", + "UPHENO:0034217", + "HP:0000077", + "HP:0020129", + "UPHENO:0002803", + "HP:0010935", + "HP:0000124", + "UPHENO:0000541", + "UPHENO:0066943", + "HP:0011843", + "UPHENO:0082943", + "UPHENO:0068313", + "HP:0031980", + "HP:0002757", + "HP:0012531", + "UPHENO:0051739", + "HP:0002659", + "HP:0100508", + "UPHENO:0081440", + "HP:0032943", + "HP:0002748", + "UPHENO:0000543", + "UPHENO:0068491", + "HP:0012213", + "UPHENO:0075195", + "HP:0033354", + "UPHENO:0068495", + "UPHENO:0024906", + "UPHENO:0079536", + "HP:0012072", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0040156", + "UPHENO:0046284", + "UPHENO:0068110", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0081544", + "UPHENO:0068089", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0015280", + "UPHENO:0082542", + "UPHENO:0012541", + "HP:0002152", + "HP:0002909", + "UPHENO:0077821", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0068169", + "UPHENO:0078554", + "UPHENO:0079534", + "UPHENO:0068565", + "UPHENO:0076293", + "UPHENO:0049904", + "UPHENO:0046291", + "UPHENO:0068251", + "HP:0001510", + "UPHENO:0049873", + "UPHENO:0051801", + "UPHENO:0046281", + "HP:0012212", + "UPHENO:0048711", + "HP:0003119", + ], + "has_phenotype_closure_label": [ + "Hypercalciuria", + "non-functional kidney", + "non-functional anatomical entity", + "Pain", + "Constitutional symptom", + "delayed growth", + "abnormal growth", + "delayed biological_process", + "abnormal anatomical entity morphology in the independent continuant", + "Growth delay", + "Growth abnormality", + "Short stature", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "Abnormality of body height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of anatomical entity", + "increased level of chemical entity in blood serum", + "Alkalosis", + "Alkalemia", + "increased level of parathyroid hormone in independent continuant", + "Abnormality of acid-base homeostasis", + "Acute phase response", + "Azotemia", + "abnormal blood serum chemical entity level", + "abnormal acid bodily fluid level", + "Abnormal homeostasis", + "abnormal role blood serum level", + "increased level of parathyroid hormone in blood", + "Abnormal circulating protein concentration", + "abnormal blood nitrogen molecular entity level", + "abnormal blood parathyroid hormone level", + "Hyperproteinemia", + "increased blood serum role level", + "abnormal independent continuant parathyroid hormone level", + "increased bodily fluid base level", + "Elevated circulating parathyroid hormone level", + "increased level of glucose in urine", + "abnormal independent continuant protein polypeptide chain level", + "abnormal vitamin metabolic process", + "abnormal independent continuant glucose level", + "increased level of lipid", + "abnormal independent continuant lipid level", + "abnormal hormone blood level", + "Glycosuria", + "abnormal lipid metabolic process", + "abnormal lipid level", + "Abnormal circulating metabolite concentration", + "increased level of carboxylic acid in urine", + "abnormal chemical homeostasis", + "abnormal independent continuant monoatomic ion level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal role urine level", + "Hypophosphatemia", + "abnormal independent continuant protein level", + "abnormal genitourinary system", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "Renal phosphate wasting", + "Abnormality of the urinary system physiology", + "increased level of protein polypeptide chain in urine", + "increased blood role level", + "abnormal blood phosphate level", + "increased level of parathyroid hormone in blood serum", + "abnormal small molecule metabolic process", + "Abnormal bone ossification", + "abnormal multicellular organism chemical entity level", + "Osteomalacia", + "increased level of protein", + "abnormal anatomical entity morphology", + "decreased height of the multicellular organism", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "increased level of organic acid in independent continuant", + "abnormal primary metabolic process", + "abnormal urine phosphate level", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "abnormal hematopoietic system", + "increased level of protein in independent continuant", + "increased level of nitrogen molecular entity in blood", + "abnormal amino acid level", + "Abnormal urine protein level", + "abnormal homeostatic process", + "abnormal bone element mass density", + "abnormal blood protein polypeptide chain level", + "abnormal urine chemical entity level", + "Increased susceptibility to fractures", + "continuant", + "quality", + "Abnormal circulating hormone concentration", + "Reduced bone mineral density", + "abnormal independent continuant calcium atom level", + "Abnormal urine phosphate concentration", + "abnormal skeletal system", + "anatomical entity dysfunction in independent continuant", + "increased level of chemical entity", + "abnormal protein level", + "increased level of chemical entity in blood plasma", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal role bodily fluid level", + "decreased level of phosphate in blood", + "phenotype", + "increased independent continuant base level", + "Abnormality of bone mineral density", + "Abnormality of the urinary system", + "increased level of protein in blood", + "Phenotypic abnormality", + "increased level of calcium atom in independent continuant", + "Bone pain", + "Abnormality of urine homeostasis", + "abnormal phosphate level", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "abnormality of renal system physiology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "abnormal hormone independent continuant level", + "increased level of lipid in independent continuant", + "abnormal phenotype by ontology source", + "abnormally decreased functionality of the nephron tubule", + "abnormality of anatomical entity physiology", + "decreased size of the multicellular organism", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "Abnormality of urine calcium concentration", + "abnormal anatomical entity mass density", + "Hyperlipidemia", + "abnormal vitamin D level", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "decreased level of chemical entity", + "Abnormality of blood and blood-forming tissues", + "Abnormal blood phosphate concentration", + "Abnormal glomerular filtration rate", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "increased level of calcium atom in urine", + "abnormality of kidney physiology", + "abnormal kidney", + "Proximal tubulopathy", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "entity", + "abnormal blood lipid level", + "Abnormal renal physiology", + "abnormally decreased functionality of the anatomical entity", + "increased level of amino acid in independent continuant", + "abnormal phosphate ion homeostasis", + "increased level of vitamin D", + "Proteinuria", + "abnormal upper urinary tract", + "increased blood serum base level", + "Abnormality of the kidney", + "Renal tubular dysfunction", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal musculoskeletal physiology", + "abnormality of musculoskeletal system physiology", + "All", + "Recurrent fractures", + "Rickets", + "Renal insufficiency", + "High serum calcitriol", + "abnormal role blood level", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "Osteopenia", + "Abnormality of vitamin D metabolism", + "Aminoaciduria", + "increased level of lipid in blood", + "Abnormal circulating organic compound concentration", + "abnormal vitamin D metabolic process", + "increased independent continuant hormone level", + "abnormal urine amino acid level", + "specifically dependent continuant", + "abnormal metabolite independent continuant level", + "increased level of carboxylic acid in independent continuant", + "increased level of calcitriol in independent continuant", + "increased independent continuant role level", + "abnormal endocrine system", + "abnormal independent continuant carboxylic acid level", + "abnormal blood plasma chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "increased level of organic molecular entity in independent continuant", + "abnormal urine calcium atom level", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "Decreased glomerular filtration rate", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "increased level of organic acid in urine", + "increased level of glucose in independent continuant", + "Abnormal urine carboxylic acid level", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "abnormal independent continuant phosphate level", + "Elevated urinary carboxylic acid", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormal calcium atom level", + "Generalized aminoaciduria", + "increased independent continuant acid level", + "Aciduria", + "increased level of calcitriol in blood", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "Abnormal metabolism", + "abnormal metabolic process", + "Abnormal circulating lipid concentration", + "Abnormality of vitamin metabolism", + "Abnormality of the endocrine system", + ], + "has_phenotype_count": 17, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "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"], + "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", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0001510", + "HP:0003259", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126", + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Growth delay", + "Elevated circulating creatinine concentration", + "Hyperphosphaturia", + "Rickets", + "Bowing of the legs", + "Glycosuria", + "Renal insufficiency", + "Short stature", + "Aminoaciduria", + "Low-molecular-weight proteinuria", + ], + "has_phenotype_closure": [ + "UPHENO:0051801", + "UPHENO:0068565", + "UPHENO:0068169", + "HP:0032943", + "HP:0001992", + "UPHENO:0068144", + "UPHENO:0046286", + "UPHENO:0051670", + "HP:0040156", + "HP:0031980", + "HP:0012072", + "UPHENO:0068495", + "UPHENO:0012541", + "HP:0000002", + "UPHENO:0068971", + "UPHENO:0075159", + "UPHENO:0081424", + "HP:0020129", + "UPHENO:0002803", + "HP:0012211", + "UPHENO:0069254", + "UPHENO:0075902", + "UPHENO:0086128", + "HP:0010935", + "HP:0000077", + "HP:0000083", + "HP:0003076", + "UPHENO:0080659", + "UPHENO:0080658", + "UPHENO:0068058", + "UPHENO:0075195", + "HP:0033354", + "UPHENO:0051635", + "UPHENO:0051640", + "UPHENO:0079873", + "UPHENO:0076727", + "UPHENO:0081423", + "UPHENO:0082449", + "UPHENO:0041226", + "UPHENO:0020041", + "UPHENO:0075952", + "UPHENO:0068064", + "HP:0002157", + "HP:0012100", + "HP:0002748", + "UPHENO:0077821", + "HP:0011277", + "UPHENO:0086956", + "UPHENO:0051630", + "UPHENO:0076285", + "UPHENO:0068251", + "UPHENO:0082543", + "UPHENO:0002411", + "UPHENO:0082536", + "UPHENO:0068091", + "HP:0032180", + "UPHENO:0080351", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0004459", + "UPHENO:0076286", + "UPHENO:0079534", + "UPHENO:0051894", + "HP:0003259", + "UPHENO:0051763", + "UPHENO:0003070", + "UPHENO:0068190", + "UPHENO:0041258", + "UPHENO:0051847", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0000543", + "UPHENO:0068049", + "UPHENO:0049587", + "UPHENO:0081547", + "UPHENO:0068089", + "HP:0001942", + "HP:0001507", + "UPHENO:0031193", + "HP:0000118", + "UPHENO:0001001", + "UPHENO:0082538", + "UPHENO:0082539", + "BFO:0000001", + "UPHENO:0000541", + "UPHENO:0052116", + "UPHENO:0051668", + "HP:0000924", + "UPHENO:0002536", + "HP:0012337", + "UPHENO:0078550", + "HP:0004364", + "UPHENO:0076289", + "UPHENO:0051753", + "UPHENO:0068346", + "HP:0003126", + "HP:0001871", + "UPHENO:0075696", + "BFO:0000002", + "HP:0003110", + "UPHENO:0001005", + "UPHENO:0051686", + "UPHENO:0079536", + "BFO:0000020", + "HP:0430071", + "UPHENO:0001002", + "HP:0000940", + "UPHENO:0081546", + "HP:0004360", + "HP:0001941", + "UPHENO:0001003", + "HP:0000001", + "HP:0004348", + "UPHENO:0051900", + "UPHENO:0041573", + "UPHENO:0081550", + "UPHENO:0051804", + "HP:0001939", + "UPHENO:0077858", + "UPHENO:0068247", + "UPHENO:0077826", + "UPHENO:0002332", + "HP:0012599", + "UPHENO:0041610", + "HP:0033127", + "HP:0011842", + "UPHENO:0046284", + "UPHENO:0068110", + "UPHENO:0086628", + "HP:0004322", + "UPHENO:0068054", + "UPHENO:0052038", + "UPHENO:0082875", + "UPHENO:0082542", + "UPHENO:0015280", + "UPHENO:0002642", + "PATO:0000001", + "UPHENO:0002442", + "UPHENO:0081544", + "UPHENO:0046348", + "HP:0000079", + "UPHENO:0086132", + "UPHENO:0068352", + "HP:0040068", + "HP:0011314", + "HP:0003330", + "HP:0000093", + "UPHENO:0080352", + "UPHENO:0068442", + "UPHENO:0076692", + "UPHENO:0068040", + "UPHENO:0082835", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0081548", + "UPHENO:0076703", + "UPHENO:0084653", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0002896", + "UPHENO:0031310", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0041536", + "UPHENO:0078554", + "UPHENO:0076740", + "UPHENO:0082467", + "UPHENO:0002830", + "HP:0011844", + "UPHENO:0068472", + "UPHENO:0041098", + "HP:0002814", + "UPHENO:0080300", + "HP:0006487", + "HP:0001510", + "HP:0002979", + "UPHENO:0051739", + "UPHENO:0084767", + "UPHENO:0086635", + "HP:0002981", + "UPHENO:0086780", + "UPHENO:0002832", + "UPHENO:0084763", + "UPHENO:0068538", + "HP:0040064", + "HP:0003109", + "HP:0012591", + "UPHENO:0082129", + ], + "has_phenotype_closure_label": [ + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "Aciduria", + "increased level of amino acid in independent continuant", + "increased level of carboxylic acid in urine", + "increased level of organic acid in urine", + "increased independent continuant base level", + "Organic aciduria", + "abnormal independent continuant carboxylic acid level", + "Aminoaciduria", + "increased level of organic acid in independent continuant", + "Short stature", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of anatomical entity", + "Abnormality of the kidney", + "non-functional anatomical entity", + "Proteinuria", + "abnormal upper urinary tract", + "abnormal kidney", + "abnormal independent continuant glucose level", + "abnormal role urine level", + "increased level of glucose in urine", + "Abnormal urine carboxylic acid level", + "increased level of glucose in independent continuant", + "abnormal limb bone morphology", + "shape long bone", + "increased level of carboxylic acid in independent continuant", + "Abnormal diaphysis morphology", + "Abnormal renal physiology", + "curved anatomical entity", + "Abnormal circulating metabolite concentration", + "increased level of protein polypeptide chain in urine", + "increased blood role level", + "Growth abnormality", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "increased blood serum role level", + "All", + "phenotype by ontology source", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic system", + "increased level of protein polypeptide chain in independent continuant", + "abnormal urine glucose level", + "entity", + "abnormal role blood serum level", + "abnormal bone element mass density", + "abnormal amino acid level", + "increased level of nitrogen molecular entity in blood", + "abnormal limb bone", + "Abnormal bone ossification", + "abnormal phenotype by ontology source", + "Growth delay", + "increased independent continuant role level", + "abnormal biological_process", + "abnormal chemical entity level", + "Low-molecular-weight proteinuria", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormal multicellular organism chemical entity level", + "abnormal shape of continuant", + "abnormal independent continuant creatinine level", + "Elevated circulating creatinine concentration", + "increased level of chemical entity", + "Abnormal circulating creatinine concentration", + "Abnormal urine metabolite level", + "increased level of creatinine in blood", + "increased bodily fluid acid level", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "Abnormality of acid-base homeostasis", + "Glycosuria", + "Abnormality of the calf", + "delayed growth", + "Azotemia", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "increased level of organic molecular entity in independent continuant", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "abnormal acid bodily fluid level", + "Abnormality of the urinary system physiology", + "Acidosis", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of chemical entity in blood plasma", + "abnormal hindlimb morphology", + "abnormal genitourinary system", + "shape anatomical entity", + "Abnormality of urine homeostasis", + "increased level of creatinine in independent continuant", + "delayed biological_process", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "continuant", + "phenotype", + "Reduced bone mineral density", + "abnormal blood creatinine level", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "Decreased anatomical entity mass density", + "abnormal metabolite independent continuant level", + "specifically dependent continuant", + "abnormal role bodily fluid level", + "abnormal blood plasma chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "Metabolic acidosis", + "increased independent continuant acid level", + "Renal insufficiency", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Abnormal homeostasis", + "Bowing of the legs", + "increased level of creatinine in blood serum", + "abnormal anatomical entity morphology", + "abnormal diaphysis morphology", + "increased level of chemical entity in blood serum", + "abnormal urine chemical entity level", + "abnormality of anatomical entity physiology", + "decreased size of the multicellular organism", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "Abnormal urine phosphate concentration", + "quality", + "abnormal anatomical entity morphology in the pelvic complex", + "increased level of amino acid in urine", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "abnormal phosphate level", + "abnormal long bone morphology", + "Elevated urinary carboxylic acid", + "abnormal leg", + "abnormal independent continuant phosphate level", + "increased level of phosphate in urine", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal limb", + "increased level of chemical entity in blood", + "Abnormal urinary electrolyte concentration", + "abnormality of renal system physiology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "abnormal urine phosphate level", + "Abnormality of the urinary system", + "abnormal anatomical entity mass density", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "decreased height of the multicellular organism", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "abnormal hindlimb zeugopod, curved", + "Rickets", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "curvature anatomical entity", + "curved hindlimb zeugopod", + "abnormal blood serum chemical entity level", + "curved long bone", + "non-functional kidney", + "abnormal diaphysis morphology in the independent continuant", + "Abnormality of the upper urinary tract", + "shape anatomical entity in independent continuant", + "abnormal limb morphology", + "abnormal growth", + "abnormal hindlimb zeugopod morphology", + "abnormality of kidney physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal renal system", + "Abnormal long bone morphology", + "Abnormality of body height", + "Abnormal appendicular skeleton morphology", + "curvature anatomical entity in independent continuant", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal independent continuant amino acid level", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "abnormal hindlimb zeugopod", + "Abnormality of limb bone", + "curved anatomical entity in independent continuant", + "Abnormality of the lower limb", + "abnormal appendicular skeleton morphology", + ], + "has_phenotype_count": 11, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "full_name": None, + "deprecated": None, + "description": None, + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "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", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", + "HP:0004322", + "HP:0003126", + "HP:0000083", + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", + "Short stature", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", + ], + "has_phenotype_closure": [ + "UPHENO:0078555", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068079", + "UPHENO:0084542", + "UPHENO:0051619", + "UPHENO:0051714", + "UPHENO:0051608", + "UPHENO:0051688", + "UPHENO:0051659", + "HP:0001995", + "HP:0004918", + "HP:0025142", + "HP:0012531", + "HP:0011279", + "HP:0002659", + "HP:0003081", + "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0078640", + "UPHENO:0050484", + "UPHENO:0086172", + "UPHENO:0084537", + "HP:0010996", + "UPHENO:0049723", + "HP:0004359", + "HP:0010966", + "HP:0012103", + "HP:0025354", + "HP:0003119", + "UPHENO:0006889", + "HP:0011843", + "HP:0003234", + "UPHENO:0082544", + "HP:0004354", + "UPHENO:0034319", + "UPHENO:0084472", + "UPHENO:0068442", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "HP:0004369", + "HP:0011038", + "UPHENO:0051280", + "UPHENO:0051898", + "HP:0011017", + "UPHENO:0034199", + "UPHENO:0051704", + "HP:0011280", + "HP:0002653", + "UPHENO:0076703", + "UPHENO:0049618", + "HP:0011042", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0051887", + "UPHENO:0034438", + "HP:0001943", + "UPHENO:0051958", + "UPHENO:0068352", + "UPHENO:0081777", + "UPHENO:0066927", + "UPHENO:0081544", + "HP:0006530", + "HP:0004352", + "UPHENO:0079536", + "UPHENO:0034217", + "HP:0010929", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0069254", + "HP:0001871", + "UPHENO:0051186", + "HP:0004322", + "HP:0004323", + "HP:0003149", + "UPHENO:0049628", + "UPHENO:0004459", + "UPHENO:0002411", + "UPHENO:0075666", + "UPHENO:0050080", + "UPHENO:0068971", + "UPHENO:0051960", + "UPHENO:0046356", + "UPHENO:0076289", + "UPHENO:0049709", + "UPHENO:0000541", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0034253", + "HP:0001324", + "UPHENO:0082543", + "UPHENO:0068134", + "UPHENO:0067999", + "HP:0000124", + "HP:0010935", + "UPHENO:0078646", + "UPHENO:0034248", + "UPHENO:0068094", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0046283", + "HP:0011277", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0003111", + "HP:0000079", + "HP:0004379", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0079822", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "HP:0012211", + "UPHENO:0051847", + "HP:0001942", + "HP:0001507", + "UPHENO:0076294", + "UPHENO:0002964", + "UPHENO:0084653", + "UPHENO:0002320", + "HP:0430071", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0100529", + "UPHENO:0001005", + "UPHENO:0068036", + "UPHENO:0050113", + "UPHENO:0051686", + "UPHENO:0001002", + "UPHENO:0046284", + "UPHENO:0068110", + "HP:0001947", + "UPHENO:0051645", + "UPHENO:0020748", + "UPHENO:0002442", + "UPHENO:0001003", + "UPHENO:0054261", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0080352", + "HP:0000093", + "HP:0000001", + "HP:0004348", + "UPHENO:0082834", + "HP:0003774", + "UPHENO:0080659", + "UPHENO:0051668", + "UPHENO:0052116", + "HP:0000924", + "HP:0003330", + "HP:0010930", + "UPHENO:0046348", + "HP:0020129", + "HP:0000077", + "UPHENO:0068089", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0001001", + "UPHENO:0081440", + "UPHENO:0086908", + "HP:0012599", + "UPHENO:0075696", + "HP:0011842", + "HP:0002150", + "HP:0033127", + "BFO:0000001", + "UPHENO:0082539", + "UPHENO:0082538", + "UPHENO:0050433", + "UPHENO:0051763", + "HP:0003011", + "HP:0012337", + "UPHENO:0049904", + "UPHENO:0081550", + "HP:0012591", + "HP:0001939", + "UPHENO:0068064", + "HP:0002748", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0081547", + "UPHENO:0068511", + "BFO:0000002", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0012072", + "HP:0003110", + "UPHENO:0034391", + "UPHENO:0010763", + "HP:0032943", + "UPHENO:0051191", + "HP:0011036", + "HP:0010967", + "HP:0034359", + "UPHENO:0054299", + "UPHENO:0051635", + "HP:0002157", + "HP:0000002", + "HP:0033354", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0068058", + "UPHENO:0080658", + "UPHENO:0002332", + "UPHENO:0078554", + "UPHENO:0082943", + "HP:0003646", + "HP:0031980", + "UPHENO:0046362", + "HP:0002900", + "UPHENO:0080556", + "HP:0003155", + "UPHENO:0068495", + "HP:0040156", + "UPHENO:0052008", + "UPHENO:0076299", + "UPHENO:0051670", + "UPHENO:0046286", + "BFO:0000020", + "HP:0011032", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0019970", + "HP:0003355", + "UPHENO:0051930", + "HP:0012252", + "UPHENO:0066943", + "UPHENO:0051709", + "HP:0001992", + "HP:0002086", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0078592", + "UPHENO:0077821", + "UPHENO:0068169", + "HP:0002909", + "UPHENO:0002642", + "UPHENO:0081423", + "UPHENO:0084541", + "UPHENO:0081424", + "UPHENO:0075159", + "HP:0012598", + "UPHENO:0087433", + "UPHENO:0076286", + "UPHENO:0080351", + "UPHENO:0020584", + "UPHENO:0050619", + "HP:0003109", + "HP:0001510", + "UPHENO:0004536", + "UPHENO:0049873", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0012541", + "UPHENO:0068247", + "UPHENO:0068565", + "UPHENO:0051801", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "HP:0000117", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0004325", + "HP:0012622", + "UPHENO:0046344", + "UPHENO:0051678", + "HP:0003076", + "UPHENO:0000543", + "UPHENO:0068102", + "HP:0002206", + "PATO:0000001", + "HP:0002088", + "UPHENO:0051766", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0079824", + "HP:0011014", + "UPHENO:0080555", + "HP:0011015", + "HP:0004349", + "HP:0012603", + "UPHENO:0051866", + "UPHENO:0050116", + "HP:0012606", + "HP:0001941", + "HP:0003648", + "UPHENO:0051804", + "HP:0004912", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0051736", + "HP:0012379", + "UPHENO:0051588", + "UPHENO:0049748", + "UPHENO:0082875", + "UPHENO:0034276", + "UPHENO:0068251", + "UPHENO:0024906", + "UPHENO:0034149", + "UPHENO:0051712", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0066781", + "HP:0034684", + "HP:0010932", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0078616", + ], + "has_phenotype_closure_label": [ + "Proximal renal tubular acidosis", + "Generalized aminoaciduria", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "increased level of purines in independent continuant", + "increased level of uric acid in urine", + "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "abnormal independent continuant hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Hyperchloremic metabolic acidosis", + "Pain", + "Constitutional symptom", + "abnormality of musculoskeletal system physiology", + "abnormal urine potassium atom level", + "Abnormal urine potassium concentration", + "Abnormal circulating fatty-acid concentration", + "abnormal amino acid derivative level", + "abnormal monocarboxylic acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "abnormal carnitine metabolic process", + "Impaired renal tubular reabsorption of phosphate", + "Hyperuricosuria", + "Abnormal circulating enzyme concentration or activity", + "Abnormal renal tubular resorption", + "Rickets", + "Abnormal blood monovalent inorganic cation concentration", + "increased level of organic acid in urine", + "Abnormal blood potassium concentration", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium atom level", + "decreased level of potassium atom in blood", + "abnormal phenotype by ontology source", + "abnormal urine phosphate level", + "Abnormal glucose homeostasis", + "increased level of chemical entity in blood", + "Hyperphosphaturia", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "increased level of phosphate in urine", + "abnormal potassium atom level", + "abnormal skeletal system", + "abnormal renal system process", + "Renal tubular dysfunction", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "decreased level of uric acid in blood", + "Abnormal renal physiology", + "Weight loss", + "abnormal kidney", + "increased level of calcium atom in urine", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "Abnormal blood phosphate concentration", + "Bicarbonate-wasting renal tubular acidosis", + "Abnormality of blood and blood-forming tissues", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Decreased anatomical entity mass", + "Bicarbonaturia", + "increased bodily fluid acid level", + "decreased level of phosphate in blood", + "Elevated urinary carboxylic acid", + "Abnormal circulating metabolite concentration", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal role blood level", + "Renal insufficiency", + "Dehydration", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "decreased level of amino-acid betaine", + "Abnormal urine metabolite level", + "abnormal carbohydrate homeostasis", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "Abnormal blood glucose concentration", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "abnormal homeostatic process", + "decreased muscle organ strength", + "decreased role blood level", + "abnormal blood phosphate level", + "increased level of protein polypeptide chain in urine", + "abnormal renal absorption", + "Abnormality of bone mineral density", + "Muscle weakness", + "decreased anatomical entity strength", + "Bone pain", + "Abnormality of the upper urinary tract", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "abnormal musculature", + "abnormal independent continuant monoatomic ion level", + "abnormal multicellular organism chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "abnormal monoatomic cation homeostasis", + "increased level of potassium atom in urine", + "decreased size of the anatomical entity", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "decreased level of potassium atom in independent continuant", + "Metabolic acidosis", + "increased level of monosaccharide in urine", + "abnormal anatomical entity", + "Abnormality of urine homeostasis", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "abnormal blood potassium(1+) level", + "Acidosis", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "Abnormal urine protein level", + "Abnormal circulating purine concentration", + "abnormal independent continuant glucose level", + "Reduced bone mineral density", + "abnormality of renal system physiology", + "quality", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "abnormal urine chemical entity level", + "All", + "increased level of phosphate in independent continuant", + "abnormal lung morphology", + "abnormal bone element mass density", + "increased level of calcium atom in independent continuant", + "decreased role independent continuant level", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "increased level of monosaccharide in independent continuant", + "abnormal cell", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "decreased height of the multicellular organism", + "abnormality of muscle organ physiology", + "Growth delay", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "increased level of protein", + "Hypercalciuria", + "abnormal renal system", + "abnormal small molecule metabolic process", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "Low-molecular-weight proteinuria", + "Abnormality of acid-base homeostasis", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "Abnormal circulating nitrogen compound concentration", + "Abnormal blood cation concentration", + "abnormal upper urinary tract", + "abnormal skeletal system morphology", + "Proteinuria", + "Abnormal cellular physiology", + "increased level of chemical entity", + "abnormal purine nucleobase metabolic process", + "increased level of rac-lactic acid in urine", + "increased independent continuant acid level", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "abnormal independent continuant carbohydrate level", + "Decreased bone element mass density", + "decreased size of the multicellular organism", + "abnormal acid bodily fluid level", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "entity", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "abnormal genitourinary system", + "increased level of rac-lactic acid in independent continuant", + "increased level of glucose in independent continuant", + "increased level of organic molecular entity in independent continuant", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "increased level of glucose in urine", + "Abnormal bone ossification", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "abnormal respiratory system morphology", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal protein level", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "increased level of organic acid in independent continuant", + "Aminoaciduria", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "increased level of carboxylic acid in independent continuant", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "increased independent continuant base level", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", + "increased level of nitrogen molecular entity in blood", + "Abnormality of the musculature", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Decreased body weight", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "abnormal metabolite independent continuant level", + "decreased height of the anatomical entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "Abnormality of body height", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", + "abnormality of anatomical entity height", + "abnormally decreased functionality of the anatomical entity", + "Short stature", + "decreased anatomical entity mass", + "Growth abnormality", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", + "abnormal anatomical entity morphology in the independent continuant", + "Osteomalacia", + "delayed biological_process", + "abnormal growth", + "abnormal blood uric acid level", + "delayed growth", + "abnormal independent continuant protein polypeptide chain level", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "non-functional kidney", + "Renal phosphate wasting", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "abnormality of anatomical entity mass", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "abnormal calcium atom level", + "abnormal regulation of body fluid levels", + "Abnormal lung morphology", + "abnormal blood nitrogen molecular entity level", + "Abnormal respiratory system morphology", + "lung fibrosis", + "continuant", + "Abnormal circulating nucleobase concentration", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "abnormal urine sodium atom level", + "abnormal independent continuant sodium atom level", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "Abnormal urine sodium concentration", + "non-functional anatomical entity", + "abnormal sodium atom level", + "Hypophosphatemic rickets", + "decreased level of purines", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "Abnormality of fluid regulation", + "abnormal nucleobase metabolic process", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal primary metabolic process", + "Hypouricemia", + "abnormal metabolic process", + "abnormal blood monoatomic ion level", + "decreased level of uric acid in independent continuant", + "Azotemia", + "Hypokalemia", + "Decreased circulating purine concentration", + ], + "has_phenotype_count": 39, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "full_name": None, + "deprecated": None, + "description": None, + "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002857", + "HP:0002097", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0004918", + "HP:0045051", + "HP:0000093", + "HP:0003076", + "HP:0003355", + "HP:0005576", + "HP:0003774", + "HP:0000822", + "HP:0030078", + ], + "has_phenotype_label": [ + "Genu valgum", + "Emphysema", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Hyperchloremic metabolic acidosis", + "Decreased DLCO", + "Proteinuria", + "Glycosuria", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Stage 5 chronic kidney disease", + "Hypertension", + "Lung adenocarcinoma", + ], + "has_phenotype_closure": [ + "HP:0100526", + "HP:0030078", + "HP:0032263", + "UPHENO:0080362", + "UPHENO:0002678", + "HP:0030972", + "HP:0011025", + "HP:0001626", + "HP:0012211", + "UPHENO:0086132", + "UPHENO:0086128", + "HP:0012622", + "UPHENO:0002411", + "HP:0000083", + "HP:0005576", + "HP:0012210", + "UPHENO:0076714", + "UPHENO:0087427", + "HP:0012575", + "HP:0010935", + "HP:0000077", + "UPHENO:0068169", + "HP:0032943", + "UPHENO:0068144", + "UPHENO:0046286", + "UPHENO:0051670", + "HP:0031980", + "HP:0012072", + "UPHENO:0068495", + "UPHENO:0068491", + "HP:0003076", + "UPHENO:0080659", + "HP:0000091", + "UPHENO:0080658", + "UPHENO:0068058", + "UPHENO:0051635", + "UPHENO:0051640", + "HP:0011277", + "UPHENO:0002803", + "HP:0020129", + "UPHENO:0051801", + "HP:0000079", + "UPHENO:0077821", + "UPHENO:0068565", + "UPHENO:0002642", + "HP:0003110", + "UPHENO:0068247", + "HP:0033354", + "HP:0030878", + "HP:0045051", + "UPHENO:0002332", + "UPHENO:0002448", + "HP:0002795", + "UPHENO:0081547", + "UPHENO:0068064", + "HP:0001995", + "HP:0012337", + "BFO:0000020", + "UPHENO:0087462", + "UPHENO:0076756", + "UPHENO:0041536", + "UPHENO:0082449", + "UPHENO:0003070", + "UPHENO:0051763", + "UPHENO:0041226", + "UPHENO:0020041", + "BFO:0000002", + "UPHENO:0081548", + "UPHENO:0076703", + "HP:0030358", + "UPHENO:0001003", + "HP:0000822", + "HP:0011842", + "UPHENO:0081550", + "UPHENO:0041573", + "HP:0011314", + "HP:0040068", + "UPHENO:0002832", + "UPHENO:0084763", + "UPHENO:0077858", + "HP:0001939", + "HP:0001941", + "HP:0004360", + "UPHENO:0034391", + "UPHENO:0081546", + "UPHENO:0075952", + "UPHENO:0080300", + "UPHENO:0076289", + "UPHENO:0004459", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0051937", + "HP:0000118", + "UPHENO:0031193", + "HP:0000924", + "UPHENO:0052116", + "UPHENO:0051668", + "UPHENO:0078554", + "UPHENO:0082467", + "UPHENO:0076740", + "UPHENO:0082542", + "UPHENO:0015280", + "UPHENO:0082129", + "HP:0032581", + "HP:0004912", + "HP:0033127", + "UPHENO:0041610", + "HP:0000093", + "UPHENO:0076692", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0086908", + "UPHENO:0075696", + "HP:0001871", + "HP:0002857", + "UPHENO:0076779", + "UPHENO:0068538", + "HP:0040064", + "UPHENO:0002885", + "HP:0011844", + "UPHENO:0041098", + "UPHENO:0002830", + "UPHENO:0068054", + "UPHENO:0082875", + "UPHENO:0051186", + "HP:0001969", + "UPHENO:0051739", + "UPHENO:0084767", + "HP:0100606", + "UPHENO:0051686", + "UPHENO:0076767", + "UPHENO:0087993", + "UPHENO:0086628", + "HP:0030760", + "UPHENO:0001002", + "HP:0002597", + "HP:0000940", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0031310", + "HP:0011793", + "UPHENO:0086780", + "HP:0002981", + "HP:0000001", + "HP:0004348", + "HP:0002814", + "UPHENO:0020748", + "HP:0040156", + "UPHENO:0076299", + "UPHENO:0051930", + "HP:0003355", + "HP:0012252", + "UPHENO:0002896", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0084653", + "HP:0100491", + "HP:0003330", + "UPHENO:0086635", + "UPHENO:0001005", + "HP:0045049", + "HP:0100529", + "HP:0002813", + "UPHENO:0020584", + "BFO:0000001", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0086956", + "UPHENO:0049628", + "UPHENO:0002536", + "HP:0002097", + "HP:0002815", + "HP:0002148", + "UPHENO:0019970", + "HP:0001992", + "HP:0002086", + "UPHENO:0002406", + "UPHENO:0087433", + "UPHENO:0081544", + "HP:0034669", + "UPHENO:0046348", + "HP:0006530", + "UPHENO:0068040", + "HP:0001367", + "UPHENO:0082835", + "HP:0002088", + "HP:0006487", + "HP:0002979", + "UPHENO:0004536", + "UPHENO:0051960", + "UPHENO:0034253", + "UPHENO:0050080", + "UPHENO:0049904", + "UPHENO:0051709", + "UPHENO:0051804", + "UPHENO:0068110", + "UPHENO:0046284", + "UPHENO:0049587", + "UPHENO:0068091", + "HP:0032180", + "UPHENO:0041258", + "UPHENO:0051847", + "UPHENO:0075902", + "UPHENO:0066739", + "UPHENO:0034217", + "HP:0003111", + "HP:0002206", + "HP:0001942", + "UPHENO:0076294", + "UPHENO:0079536", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0003774", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "HP:0002748", + "UPHENO:0048707", + "HP:0011849", + "HP:0002664", + "UPHENO:0082543", + "UPHENO:0068089", + "HP:0004918", + ], + "has_phenotype_closure_label": [ + "Neoplasm of the lung", + "Neoplasm of the respiratory system", + "Lung adenocarcinoma", + "Hypertension", + "Abnormality of the cardiovascular system", + "Abnormal systemic blood pressure", + "Abnormality of the vasculature", + "Chronic kidney disease", + "non-functional anatomical entity", + "abnormal kidney morphology", + "Tubulointerstitial fibrosis", + "abnormal kidney epithelium morphology", + "Abnormality of the kidney", + "Renal fibrosis", + "Abnormal renal morphology", + "abnormal kidney", + "abnormal renal system morphology", + "Aciduria", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "increased level of carboxylic acid in urine", + "Non-small cell lung carcinoma", + "increased level of organic acid in urine", + "abnormal urine amino acid level", + "abnormal cardiovascular system", + "Aminoaciduria", + "increased level of organic acid in independent continuant", + "abnormal independent continuant glucose level", + "increased level of glucose in urine", + "Abnormal urine carboxylic acid level", + "increased level of glucose in independent continuant", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the urinary system", + "abnormality of renal system physiology", + "abnormal upper urinary tract", + "Proteinuria", + "abnormal role urine level", + "Stage 5 chronic kidney disease", + "increased level of organic molecular entity in independent continuant", + "abnormal urine chemical entity level", + "increased level of nitrogen molecular entity in independent continuant", + "Abnormality on pulmonary function testing", + "abnormality of anatomical entity physiology", + "abnormal nephron morphology", + "abnormality of respiratory system physiology", + "Abnormality of the skeletal system", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "abnormal limb", + "Abnormal renal physiology", + "curved anatomical entity", + "Abnormal nephron morphology", + "Hypophosphatemic rickets", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal metabolite independent continuant level", + "specifically dependent continuant", + "abnormality of cardiovascular system physiology", + "increased level of carboxylic acid in independent continuant", + "Abnormal DLCO", + "Abnormal diaphysis morphology", + "lung fibrosis", + "shape long bone", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "abnormal knee morphology", + "abnormal skeletal joint morphology", + "Abnormal blood phosphate concentration", + "Abnormality of limb bone", + "Abnormality of lower limb joint", + "increased independent continuant base level", + "Abnormal pulmonary interstitial morphology", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "increased level of chemical entity", + "abnormal hindlimb zeugopod", + "Abnormal urine protein level", + "abnormal homeostatic process", + "Abnormal cardiovascular system physiology", + "abnormal shape of continuant", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "Abnormal respiratory system morphology", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "entity", + "abnormal limb bone morphology", + "abnormal hematopoietic system", + "Reduced bone mineral density", + "phenotype", + "Organic aciduria", + "decreased level of phosphate in independent continuant", + "abnormal independent continuant carboxylic acid level", + "Genu valgum", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "Abnormality of the upper urinary tract", + "shape anatomical entity in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "curved long bone", + "abnormal diaphysis morphology", + "abnormal anatomical entity morphology", + "Abnormal joint morphology", + "Abnormal appendicular skeleton morphology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "Abnormality of acid-base homeostasis", + "Increased blood pressure", + "curved hindlimb zeugopod", + "abnormal long bone morphology", + "abnormal phosphate level", + "abnormal nephron tubule morphology", + "abnormal limb morphology", + "abnormal phenotype by ontology source", + "Phenotypic abnormality", + "abnormal independent continuant amino acid level", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "non-functional kidney", + "abnormal diaphysis morphology in the independent continuant", + "abnormality of kidney physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "abnormal renal system", + "Abnormal long bone morphology", + "Abnormality of the knee", + "Abnormal renal tubule morphology", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "curvature anatomical entity", + "abnormal skeletal system", + "quality", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal limb bone", + "Abnormal knee morphology", + "Abnormal respiratory system physiology", + "Abnormal homeostasis", + "Bowing of the legs", + "Abnormality of limb bone morphology", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity, curved", + "Glycosuria", + "Abnormality of the calf", + "abnormal respiratory system morphology", + "Renal insufficiency", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "Abnormal lung morphology", + "abnormal vasculature", + "abnormal respiratory system", + "All", + "abnormal lung morphology", + "Hypophosphatemia", + "abnormal multicellular organism chemical entity level", + "abnormal independent continuant monoatomic ion level", + "increased level of protein polypeptide chain in urine", + "Emphysema", + "abnormal blood phosphate level", + "abnormal phosphate ion homeostasis", + "abnormal chemical homeostasis", + "Abnormal circulating metabolite concentration", + "Bowing of the long bones", + "Abnormality of bone mineral density", + "Hyperchloremic acidosis", + "Elevated urinary carboxylic acid", + "abnormal hindlimb joint", + "abnormal leg", + "abnormal independent continuant phosphate level", + "Pulmonary fibrosis", + "abnormal independent continuant chemical entity level", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased level of chemical entity", + "Abnormality of blood and blood-forming tissues", + "Decreased DLCO", + "continuant", + "anatomical entity fibrosis", + "Neoplasm by anatomical site", + "abnormal knee", + "abnormal anatomical entity mass density", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "abnormal bone element mass density", + "Neoplasm", + "abnormal hindlimb zeugopod, curved", + "Rickets", + "Abnormal bone ossification", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "abnormal acid bodily fluid level", + "increased independent continuant role level", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Acidosis", + "Abnormal renal insterstitial morphology", + "Abnormal tubulointerstitial morphology", + "Hyperchloremic metabolic acidosis", + "Abnormal urine metabolite level", + "abnormal blood monoatomic ion level", + "increased bodily fluid acid level", + "Metabolic acidosis", + "decreased level of phosphate in blood", + "abnormal role bodily fluid level", + "increased independent continuant acid level", + ], + "has_phenotype_count": 14, + "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": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "uri": None, + "iri": None, + "namespace": "HP", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0009213", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group C", + "full_name": None, + "deprecated": None, + "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", + "xref": ["DOID:0111087", "GARD:15168", "NCIT:C125704", "OMIM:227645", "UMLS:C3468041"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FA3", + "FACC", + "FANCC", + "Fanconi Anemia, complementation group type C", + "Fanconi anaemia complementation group type C", + "Fanconi anemia complementation group C", + "Fanconi anemia complementation group type C", + "Fanconi anemia, complementation group C", + "Fanconi pancytopenia type 3", + "Fanconi pancytopenia, type 3", + "facc", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000086", + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0011940", + "HP:0000252", + "HP:0000957", + "HP:0000815", + "HP:0001017", + "HP:0000104", + "HP:0003974", + "HP:0000028", + "HP:0001876", + "HP:0000325", + "HP:0009778", + "HP:0001873", + "HP:0001511", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0003221", + "HP:0009943", + "HP:0005528", + "HP:0000978", + "HP:0000953", + "HP:0001903", + "HP:0001629", + "HP:0001909", + "HP:0000081", + "HP:0000085", + "HP:0001371", + "HP:0004322", + "HP:0000365", + "HP:0020073", + "HP:0000486", + "HP:0003214", + "HP:0003213", + "HP:0000286", + ], + "has_phenotype_label": [ + "Ectopic kidney", + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Anterior wedging of T12", + "Microcephaly", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Anemic pallor", + "Renal agenesis", + "Absent radius", + "Cryptorchidism", + "Pancytopenia", + "Triangular face", + "Short thumb", + "Thrombocytopenia", + "Intrauterine growth retardation", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bone marrow hypocellularity", + "Bruising susceptibility", + "Hyperpigmentation of the skin", + "Anemia", + "Ventricular septal defect", + "Leukemia", + "Duplicated collecting system", + "Horseshoe kidney", + "Flexion contracture", + "Short stature", + "Hearing impairment", + "Hypopigmented macule", + "Strabismus", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Epicanthus", + ], + "has_phenotype_closure": [ + "HP:0000492", + "HP:0032039", + "UPHENO:0087058", + "UPHENO:0065599", + "HP:0030669", + "HP:0000286", + "UPHENO:0049964", + "HP:0003254", + "UPHENO:0049671", + "UPHENO:0049952", + "HP:0003214", + "HP:0012373", + "HP:0000549", + "UPHENO:0079828", + "UPHENO:0049586", + "HP:0020073", + "UPHENO:0080585", + "UPHENO:0050620", + "HP:0000365", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0081440", + "HP:0034430", + "HP:0003549", + "UPHENO:0041821", + "UPHENO:0080351", + "HP:0004742", + "HP:0011793", + "UPHENO:0076776", + "HP:0030680", + "UPHENO:0086854", + "UPHENO:0015282", + "HP:0010438", + "UPHENO:0033572", + "UPHENO:0080362", + "UPHENO:0080581", + "UPHENO:0075655", + "HP:0011028", + "HP:0000978", + "HP:0003213", + "UPHENO:0051097", + "HP:0011025", + "HP:0001626", + "UPHENO:0076761", + "HP:0005528", + "UPHENO:0082444", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "HP:0009998", + "HP:0011018", + "HP:0011314", + "HP:0004275", + "UPHENO:0084447", + "HP:0011017", + "HP:0002664", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "HP:0004377", + "UPHENO:0050845", + "UPHENO:0049990", + "UPHENO:0049748", + "HP:0003220", + "HP:0004325", + "UPHENO:0033604", + "HP:0004323", + "UPHENO:0054299", + "UPHENO:0010763", + "HP:0001518", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0100887", + "HP:0000478", + "HP:0000568", + "HP:0012372", + "HP:0000002", + "UPHENO:0069523", + "UPHENO:0003020", + "HP:0004312", + "UPHENO:0085263", + "HP:0001896", + "HP:0002597", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0005642", + "UPHENO:0000543", + "HP:0001511", + "UPHENO:0012541", + "HP:0034392", + "HP:0009381", + "UPHENO:0031839", + "UPHENO:0046411", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0046624", + "UPHENO:0068971", + "HP:0000271", + "HP:0000496", + "UPHENO:0046707", + "UPHENO:0087472", + "UPHENO:0002910", + "UPHENO:0086173", + "HP:0001999", + "HP:0001872", + "UPHENO:0002903", + "HP:0011875", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0085302", + "UPHENO:0080393", + "HP:0012145", + "HP:0001713", + "UPHENO:0086049", + "HP:0011873", + "UPHENO:0087355", + "UPHENO:0084987", + "UPHENO:0087339", + "UPHENO:0002597", + "UPHENO:0053298", + "UPHENO:0002712", + "UPHENO:0005597", + "UPHENO:0050101", + "HP:0000812", + "HP:0000811", + "HP:0000028", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0041075", + "UPHENO:0085144", + "UPHENO:0050108", + "UPHENO:0021474", + "UPHENO:0002595", + "HP:0009943", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0041629", + "UPHENO:0080382", + "HP:0001510", + "UPHENO:0086201", + "UPHENO:0087888", + "UPHENO:0002598", + "UPHENO:0086855", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0021800", + "UPHENO:0085874", + "HP:0008056", + "HP:0000025", + "UPHENO:0005651", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "HP:0002818", + "UPHENO:0076718", + "HP:0040072", + "HP:0031704", + "HP:0040070", + "UPHENO:0080187", + "HP:0000085", + "HP:0003953", + "UPHENO:0025945", + "HP:0006503", + "HP:0012874", + "HP:0009825", + "UPHENO:0081511", + "HP:0005922", + "UPHENO:0084766", + "HP:0009601", + "HP:0100542", + "UPHENO:0088148", + "UPHENO:0084761", + "HP:0002973", + "UPHENO:0041156", + "UPHENO:0081566", + "HP:0011121", + "UPHENO:0079826", + "HP:0009142", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0087307", + "HP:0011276", + "UPHENO:0084448", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "UPHENO:0076707", + "UPHENO:0021791", + "UPHENO:0081435", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0076724", + "UPHENO:0078452", + "HP:0008422", + "UPHENO:0003055", + "HP:0011805", + "HP:0001671", + "HP:0009777", + "HP:0011297", + "UPHENO:0012274", + "UPHENO:0085118", + "HP:0001167", + "HP:0040064", + "HP:0011940", + "UPHENO:0080662", + "UPHENO:0003116", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "UPHENO:0050034", + "UPHENO:0009341", + "UPHENO:0020584", + "HP:0002813", + "HP:0011991", + "UPHENO:0074589", + "HP:0011354", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0088338", + "HP:0000081", + "UPHENO:0085873", + "HP:0000234", + "HP:0001933", + "HP:0000325", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085194", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0001017", + "UPHENO:0011498", + "UPHENO:0026181", + "HP:0003011", + "HP:0002715", + "UPHENO:0002813", + "UPHENO:0008593", + "UPHENO:0002816", + "UPHENO:0053580", + "UPHENO:0079876", + "HP:0006265", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "UPHENO:0041838", + "HP:0000079", + "HP:0012638", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0055730", + "UPHENO:0076723", + "UPHENO:0085984", + "HP:0020047", + "HP:0011893", + "UPHENO:0052970", + "UPHENO:0075787", + "UPHENO:0015324", + "HP:0000925", + "UPHENO:0081423", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0045060", + "UPHENO:0072402", + "UPHENO:0072195", + "HP:0001876", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0085076", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0001629", + "HP:0000951", + "HP:0012210", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0076740", + "UPHENO:0015280", + "UPHENO:0076744", + "HP:0000001", + "HP:0007400", + "HP:0001892", + "HP:0000315", + "UPHENO:0021561", + "UPHENO:0085189", + "UPHENO:0084420", + "UPHENO:0080200", + "UPHENO:0085371", + "HP:0025354", + "UPHENO:0021425", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0002240", + "UPHENO:0052178", + "HP:0008678", + "HP:0000486", + "HP:0001172", + "HP:0000118", + "HP:0009997", + "HP:0011446", + "HP:0100261", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049940", + "HP:0010935", + "UPHENO:0002764", + "UPHENO:0085405", + "UPHENO:0008523", + "UPHENO:0087518", + "UPHENO:0050008", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0081755", + "UPHENO:0001072", + "HP:0000086", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0011961", + "UPHENO:0087006", + "UPHENO:0075219", + "UPHENO:0077426", + "UPHENO:0088335", + "HP:0003974", + "UPHENO:0076703", + "HP:0001875", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0019886", + "UPHENO:0002406", + "UPHENO:0074584", + "UPHENO:0075878", + "HP:0009778", + "HP:0006496", + "UPHENO:0002371", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0054261", + "UPHENO:0001003", + "UPHENO:0081436", + "HP:0001881", + "UPHENO:0075902", + "HP:0002060", + "UPHENO:0082794", + "UPHENO:0026506", + "HP:0032309", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0002948", + "HP:0001371", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0041221", + "UPHENO:0086866", + "UPHENO:0085330", + "UPHENO:0049622", + "UPHENO:0086016", + "UPHENO:0076810", + "UPHENO:0085356", + "UPHENO:0006910", + "HP:0009602", + "UPHENO:0085070", + "HP:0010974", + "HP:0012443", + "UPHENO:0053588", + "UPHENO:0063722", + "UPHENO:0085042", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0032251", + "UPHENO:0054957", + "UPHENO:0004459", + "UPHENO:0000541", + "HP:0001874", + "HP:0025461", + "UPHENO:0076805", + "HP:0001155", + "HP:0002817", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0049700", + "HP:0001911", + "HP:0005927", + "HP:0011029", + "HP:0000818", + "UPHENO:0086045", + "UPHENO:0076727", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0086019", + "UPHENO:0086700", + "HP:0004322", + "HP:0001249", + "HP:0100543", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0012759", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0002433", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0046759", + "UPHENO:0084107", + "HP:0009121", + "UPHENO:0002896", + "UPHENO:0080300", + "UPHENO:0076695", + "UPHENO:0054970", + "UPHENO:0020950", + "HP:0003468", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0082129", + "UPHENO:0086023", + "UPHENO:0041226", + "UPHENO:0085875", + "HP:0011355", + "UPHENO:0051124", + "HP:0003312", + "UPHENO:0082122", + "UPHENO:0076702", + "UPHENO:0049588", + "HP:0012733", + "UPHENO:0026023", + "UPHENO:0019888", + "UPHENO:0001005", + "HP:0040195", + "UPHENO:0075195", + "HP:0002977", + "UPHENO:0050625", + "HP:0010461", + "HP:0000929", + "HP:0000240", + "UPHENO:0087928", + "HP:0000078", + "UPHENO:0005016", + "HP:0000119", + "UPHENO:0026128", + "HP:0000152", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0026980", + "UPHENO:0075997", + "UPHENO:0020888", + "UPHENO:0086002", + "HP:0000252", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080126", + "UPHENO:0076799", + "HP:0001873", + "HP:0001034", + "HP:0002011", + "UPHENO:0074575", + "UPHENO:0009399", + "UPHENO:0025211", + "UPHENO:0050121", + "UPHENO:0074572", + "HP:0001574", + "UPHENO:0080377", + "BFO:0000020", + "UPHENO:0041381", + "UPHENO:0059829", + "UPHENO:0087547", + "UPHENO:0001001", + "UPHENO:0088170", + "UPHENO:0082682", + "UPHENO:0003811", + "UPHENO:0080221", + "UPHENO:0015327", + "UPHENO:0002635", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0025100", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0024906", + "UPHENO:0049985", + "UPHENO:0078729", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0087369", + "UPHENO:0085195", + "UPHENO:0041467", + "HP:0000135", + "HP:0000815", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "HP:0000080", + "UPHENO:0076710", + "HP:0008373", + "UPHENO:0066972", + "UPHENO:0088176", + "HP:0001903", + "HP:0001877", + "HP:0000980", + "HP:0000953", + "UPHENO:0088162", + "HP:0012130", + "UPHENO:0050113", + "HP:0000104", + "UPHENO:0002219", + "HP:0011843", + "HP:0011729", + "UPHENO:0020809", + "HP:0000957", + "HP:0009823", + "UPHENO:0087510", + ], + "has_phenotype_closure_label": [ + "abnormal zone of skin morphology", + "abnormal ocular adnexa", + "abnormal skin of head morphology", + "abnormal skin of face morphology", + "increased size of the anatomical entity in independent continuant", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal cellular response to stress", + "Atypical behavior", + "abnormal behavior process", + "Abnormal conjugate eye movement", + "Abnormal eye physiology", + "abnormal behavior", + "Abnormality of the ear", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "Hearing impairment", + "decreased size of the multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Abnormality of body height", + "Abnormality of connective tissue", + "abnormality of musculoskeletal system physiology", + "3-D shape anatomical entity", + "concave 3-D shape anatomical entity", + "abnormal renal collecting system", + "abnormality of anatomical entity height", + "Duplicated collecting system", + "Abnormal renal collecting system morphology", + "Neoplasm", + "Neoplasm by anatomical site", + "Abnormal eyelid morphology", + "Abnormal heart morphology", + "Hypopigmented macule", + "Abnormal cardiac septum morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal heart morphology", + "abnormal cardiac septum morphology", + "Vascular skin abnormality", + "Abnormal cardiovascular system physiology", + "3-D shape anatomical entity in independent continuant", + "Bruising susceptibility", + "abnormal blood circulation", + "Subcutaneous hemorrhage", + "Internal hemorrhage", + "abnormal vasculature", + "Bone marrow hypocellularity", + "Flexion contracture", + "Duplication of bones involving the upper extremities", + "shape kidney", + "Duplication of phalanx of hand", + "Duplication of thumb phalanx", + "Abnormal long bone morphology", + "abnormal phalanx morphology", + "Duplication of hand bones", + "Complete duplication of thumb phalanx", + "Abnormality of thumb phalanx", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "abnormality of anatomical entity mass", + "Abnormality of body weight", + "Decreased anatomical entity mass", + "Small for gestational age", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "U-shaped anatomical entity", + "Abnormal eye morphology", + "Abnormality of the orbital region", + "Abnormal reticulocyte morphology", + "abnormal number of anatomical enitites of type reticulocyte", + "abnormal cardiovascular system", + "delayed growth", + "delayed biological_process", + "Growth delay", + "decreased embryo development", + "abnormal embryo development", + "decreased length of manual digit 1", + "decreased length of anatomical entity in independent continuant", + "Short digit", + "Abnormality of joint mobility", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "Abnormal ventricular septum morphology", + "decreased size of the anatomical entity in the independent continuant", + "decreased size of the anatomical entity", + "decreased height of the anatomical entity", + "Abnormality of the face", + "abnormal face morphology", + "abnormal face", + "Abnormal facial shape", + "Pancytopenia", + "increased anatomical entity length in independent continuant", + "abnormally decreased number of platelet", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal platelet", + "abnormal blood cell morphology", + "Abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal platelet morphology", + "abnormal bone marrow cell morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal response to stress", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal external male genitalia", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "decreased length of anatomical entity", + "absent sperm in the semen", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "absent sperm in the independent continuant", + "abnormality of internal male genitalia physiology", + "Decreased body weight", + "decreased qualitatively developmental process", + "absent gamete", + "abnormality of camera-type eye physiology", + "Reticulocytopenia", + "abnormal gamete", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system morphology", + "abnormal testis morphology", + "abnormal eyelid morphology", + "Abnormal internal genitalia", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "Azoospermia", + "Abnormality of the male genitalia", + "abnormal multicellular organismal reproductive process", + "Generalized abnormality of skin", + "abnormal internal genitalia", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormal upper limb bone morphology", + "Abnormal ocular adnexa morphology", + "abnormal forelimb zeugopod bone", + "absent radius bone in the independent continuant", + "absent radius bone", + "abnormal ocular adnexa morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "Aplasia/hypoplasia involving forearm bones", + "abnormal manual digit morphology in the independent continuant", + "Strabismus", + "absent kidney", + "absent anatomical entity in the independent continuant", + "Epicanthus", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal axial skeleton morphology", + "aplasia or hypoplasia of manual digit", + "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "Puberty and gonadal disorders", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormality of the cell cycle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of limb bone", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "2-D shape anatomical entity", + "Abnormality of limb bone morphology", + "Joint contracture", + "Abnormality of limbs", + "decreased multicellular organism mass", + "Vertebral wedging", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "absent anatomical entity", + "abnormal sensory perception", + "abnormal manus", + "abnormal eye movement", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "Abnormal neutrophil count", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "agenesis of anatomical entity", + "cuneate vertebra", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "U-shaped kidney", + "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of blood and blood-forming tissues", + "Aplasia/Hypoplasia of the thumb", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal bleeding", + "Renal hypoplasia/aplasia", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "Complete duplication of phalanx of hand", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal appendicular skeleton morphology", + "Thrombocytopenia", + "abnormal developmental process involved in reproduction", + "Abnormality of the immune system", + "abnormally localised anatomical entity", + "decreased spermatogenesis", + "abnormal kidney morphology", + "Abnormality of the genital system", + "abnormal arm", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "Abnormal leukocyte count", + "increased length of the anatomical entity", + "Abnormality of eye movement", + "Abnormality of the urinary system", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormally localised anatomical entity in independent continuant", + "Abnormal tendon morphology", + "abnormally decreased functionality of the gonad", + "abnormal cardiac ventricle morphology in the heart", + "Abnormal cell morphology", + "phenotype", + "absent digit", + "abnormally localised kidney", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal limb", + "Abnormality of the eye", + "abnormal upper urinary tract", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "changed embryo development rate", + "Intrauterine growth retardation", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the limb", + "abnormally decreased number of neutrophil", + "Abnormality of the ocular adnexa", + "Abnormality of the skeletal system", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "abnormal forebrain morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "Aplasia/Hypoplasia of fingers", + "abnormal response to stimulus", + "abnormal skull morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "abnormal genitourinary system", + "Abnormality of the upper urinary tract", + "increased length of the epicanthal fold", + "shape anatomical entity in independent continuant", + "abnormal renal system", + "abnormal cardiac ventricle morphology", + "abnormal vertebral column morphology", + "Triangular face", + "abnormal anatomical entity topology in independent continuant", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "quality", + "phenotype by ontology source", + "abnormal renal system morphology", + "decreased sensory perception of sound", + "abnormal skin of body morphology", + "abnormal tendon morphology", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal granulocyte morphology", + "abnormal size of multicellular organism", + "abnormal opening of the anatomical entity", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "abnormal radius bone morphology", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "abnormal anatomical entity morphology in the appendage girdle complex", + "Chromosomal breakage induced by crosslinking agents", + "abnormal vertebra morphology", + "Abnormal cellular phenotype", + "Ectopic kidney", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormality of DNA repair", + "abnormally decreased number of cell", + "abnormal cell", + "abnormal neutrophil", + "Abnormality of the skin", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "Abnormality of skull size", + "Hematological neoplasm", + "Abnormality of the hand", + "abnormal incomplete closing of the interventricular septum", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "aplasia or hypoplasia of manual digit 1", + "Leukemia", + "entity", + "2-D shape anatomical entity in independent continuant", + "Finger aplasia", + "continuant", + "shape vertebra", + "Abnormality of brain morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal immune system", + "Abnormal vertebral morphology", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "abnormal manus morphology", + "Abnormality of the musculature", + "abnormal development of anatomical entity", + "abnormal digit", + "Microphthalmia", + "abnormal skeletal system", + "Abnormal joint physiology", + "Irregular hyperpigmentation", + "abnormal connective tissue", + "abnormal limb bone morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Abnormal nervous system physiology", + "Prolonged G2 phase of cell cycle", + "abnormal cell cycle", + "abnormality of anatomical entity physiology", + "Abnormality of globe size", + "Non-obstructive azoospermia", + "Intellectual disability", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal cardiovascular system morphology", + "abnormal phalanx of manus morphology", + "Abnormality of mental function", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "Neurodevelopmental abnormality", + "abnormal male reproductive system", + "Cognitive impairment", + "Abnormality of the nervous system", + "absent germ cell", + "changed biological_process rate", + "increased biological_process in skin of body", + "decreased length of tendon", + "abnormal biological_process in independent continuant", + "abnormal vertebral column", + "abnormal shape of vertebra", + "triangular anatomical entity in independent continuant", + "abnormal musculature", + "abnormal nervous system", + "cuneate anatomical entity", + "abnormally decreased number of leukocyte in the independent continuant", + "Anterior wedging of T12", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "Abnormal granulocyte count", + "triangular anatomical entity", + "shape anatomical entity", + "Abnormal form of the vertebral bodies", + "Abnormality of thrombocytes", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "abnormal anatomical entity morphology in the brain", + "increased size of the anatomical entity", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "abnormal DNA damage response", + "abnormal head morphology", + "abnormal gamete generation", + "Abnormality of neutrophils", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skull morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Morphological central nervous system abnormality", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "Abnormality of head or neck", + "abnormal reproductive system", + "abnormal cell morphology", + "abnormal nervous system morphology", + "abnormal anatomical entity morphology in the heart", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "decreased anatomical entity mass", + "abnormal long bone morphology", + "Abnormality of the head", + "abnormal bone marrow cell", + "Anemia", + "decreased size of the eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "increased pigmentation in skin of body", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal biological_process", + "abnormal bony vertebral centrum morphology", + "abnormal integument", + "Abnormality of the vertebral column", + "Macule", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "increased qualitatively biological_process in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormal cardiac ventricle morphology", + "Cafe-au-lait spot", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "increased biological_process in independent continuant", + "Hyperpigmentation of the skin", + "abnormal interventricular septum morphology", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Ventricular septal defect", + "Abnormality of blood circulation", + "abnormally decreased number of reticulocyte", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "abnormal enucleated reticulocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "Abnormality of reproductive system physiology", + "Abnormal musculoskeletal physiology", + "abnormal craniocervical region morphology", + "anatomical entity dysfunction in independent continuant", + "Horseshoe kidney", + "absent sperm", + "abnormality of reproductive system physiology", + "Hypogonadism", + "Anemic pallor", + "aplasia or hypoplasia of radius bone", + "Abnormal erythrocyte morphology", + "abnormal orbital region", + "Growth abnormality", + "Abnormal localization of kidney", + "Pallor", + "absent kidney in the independent continuant", + "abnormal DNA repair", + "decreased qualitatively sensory perception of sound", + "abnormality of cardiovascular system physiology", + "Abnormality of the upper limb", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "Renal agenesis", + "Absent radius", + "Aplasia/Hypoplasia of the radius", + "absent radius bone in the forelimb", + "absent anatomical entity in the skeletal system", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "increased qualitatively biological_process", + "All", + "Aplasia involving bones of the extremities", + "Abnormality of the vasculature", + "aplastic forelimb zeugopod bone", + ], + "has_phenotype_count": 38, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0010953", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group E", + "full_name": None, + "deprecated": None, + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000086", + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0000252", + "HP:0001627", + "HP:0000957", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0001263", + "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0000953", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085", + ], + "has_phenotype_label": [ + "Ectopic kidney", + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Microcephaly", + "Abnormal heart morphology", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bruising susceptibility", + "Hyperpigmentation of the skin", + "Anemia", + "Leukemia", + "Duplicated collecting system", + "Short stature", + "Strabismus", + "Hearing impairment", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney", + ], + "has_phenotype_closure": [ + "UPHENO:0082129", + "UPHENO:0041821", + "UPHENO:0049964", + "HP:0003254", + "UPHENO:0049671", + "UPHENO:0051124", + "UPHENO:0049952", + "HP:0003214", + "HP:0000365", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0050620", + "UPHENO:0080585", + "HP:0012373", + "HP:0000549", + "UPHENO:0079828", + "UPHENO:0049586", + "UPHENO:0000543", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0052970", + "UPHENO:0075787", + "UPHENO:0080351", + "HP:0004742", + "HP:0011793", + "UPHENO:0080581", + "HP:0011028", + "HP:0000978", + "HP:0003213", + "UPHENO:0051097", + "HP:0011025", + "UPHENO:0082444", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "HP:0009998", + "HP:0011018", + "HP:0011314", + "HP:0004275", + "UPHENO:0084447", + 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"UPHENO:0085194", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0001017", + "UPHENO:0011498", + "UPHENO:0026181", + "UPHENO:0084987", + "HP:0002715", + "UPHENO:0008593", + "UPHENO:0053580", + "UPHENO:0079876", + "HP:0006265", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0000079", + "HP:0012638", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0076723", + "UPHENO:0085984", + "HP:0020047", + "HP:0011893", + "UPHENO:0087355", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0045060", + "UPHENO:0085076", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0000951", + "HP:0012210", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0081423", + "UPHENO:0080325", + "UPHENO:0002642", + "HP:0001627", + "UPHENO:0076740", + "UPHENO:0015280", + "HP:0000001", + "HP:0007400", + "HP:0001892", + "HP:0000315", + "UPHENO:0021561", + "UPHENO:0085189", + "UPHENO:0080200", + "UPHENO:0085371", + "HP:0025354", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0002240", + "UPHENO:0052178", + "HP:0008678", + "HP:0000486", + "HP:0001172", + "HP:0000118", + "HP:0009997", + "HP:0011446", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049940", + "HP:0010935", + "UPHENO:0002764", + "UPHENO:0085405", + "UPHENO:0008523", + "UPHENO:0087518", + "UPHENO:0050008", + "UPHENO:0002903", + "HP:0011875", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0081755", + "HP:0000086", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0011961", + "UPHENO:0087006", + "UPHENO:0075219", + "UPHENO:0077426", + "UPHENO:0088335", + "HP:0003974", + "UPHENO:0076703", + "HP:0001875", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0002406", + "UPHENO:0074584", + "HP:0009778", + "HP:0006496", + "UPHENO:0002371", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0054261", + "UPHENO:0001003", + "HP:0001881", + "UPHENO:0075902", + "HP:0002060", + "UPHENO:0082794", + "UPHENO:0026506", + "HP:0032309", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0080362", + "UPHENO:0002948", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0085330", + "UPHENO:0049622", + "UPHENO:0086016", + "UPHENO:0006910", + "HP:0009602", + "UPHENO:0085070", + "HP:0010974", + "HP:0012443", + "UPHENO:0053588", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0085042", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0032251", + "UPHENO:0054957", + "UPHENO:0004459", + "UPHENO:0000541", + "HP:0001874", + "HP:0025461", + "UPHENO:0076805", + "HP:0001155", + "HP:0002817", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0049700", + "HP:0001911", + "HP:0005927", + "HP:0011029", + "HP:0000818", + "UPHENO:0086045", + "UPHENO:0076727", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0086019", + "UPHENO:0086700", + "HP:0004322", + "HP:0001249", + "HP:0100543", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0086176", + 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"UPHENO:0080377", + "UPHENO:0054970", + "UPHENO:0085875", + "HP:0011355", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0087547", + "UPHENO:0001001", + "UPHENO:0088170", + "UPHENO:0082682", + "UPHENO:0003811", + "UPHENO:0080221", + "UPHENO:0002635", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0025100", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0024906", + "UPHENO:0087369", + "UPHENO:0085195", + "HP:0000135", + "HP:0000815", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "HP:0000080", + "HP:0008373", + "UPHENO:0066972", + "UPHENO:0050113", + "HP:0000104", + "UPHENO:0088176", + "HP:0001903", + "HP:0001877", + "HP:0000980", + "HP:0000953", + "UPHENO:0088162", + "HP:0012130", + "UPHENO:0087339", + "HP:0011873", + "UPHENO:0086049", + "UPHENO:0085302", + "UPHENO:0049985", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0078729", + "UPHENO:0026128", + "HP:0000119", + "HP:0000152", + "UPHENO:0005016", + "UPHENO:0005651", + ], + "has_phenotype_closure_label": [ + "3-D shape anatomical entity", + "shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal cellular response to stress", + "Abnormality of the ear", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "Hearing impairment", + "Atypical behavior", + "abnormal behavior process", + "Abnormal conjugate eye movement", + "Abnormal eye physiology", + "abnormal behavior", + "decreased size of the multicellular organism", + "delayed biological_process", + "Growth delay", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Abnormality of body height", + "abnormal renal collecting system", + "abnormality of anatomical entity height", + "Duplicated collecting system", + "Abnormal renal collecting system morphology", + "Neoplasm", + "Neoplasm by anatomical site", + "Vascular skin abnormality", + "Abnormal cardiovascular system physiology", + "3-D shape anatomical entity in independent continuant", + "Bruising susceptibility", + "abnormal blood circulation", + "Subcutaneous hemorrhage", + "Internal hemorrhage", + "abnormal vasculature", + "Duplication of bones involving the upper extremities", + "shape kidney", + "Duplication of phalanx of hand", + "Duplication of thumb phalanx", + "Abnormal long bone morphology", + "abnormal phalanx morphology", + "Duplication of hand bones", + "Complete duplication of thumb phalanx", + "Abnormality of thumb phalanx", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "Chromosomal breakage induced by crosslinking agents", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "Neurodevelopmental delay", + "abnormality of anatomical entity mass", + "Abnormality of body weight", + "Decreased anatomical entity mass", + "Small for gestational age", + "decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "decreased height of the anatomical entity", + "Abnormality of the face", + "abnormal face morphology", + "U-shaped anatomical entity", + "Abnormal eye morphology", + "Abnormality of the orbital region", + "abnormal face", + "Abnormal reticulocyte morphology", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased length of manual digit 1", + "decreased length of anatomical entity in independent continuant", + "Short digit", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "decreased size of the anatomical entity in the independent continuant", + "decreased size of the anatomical entity", + "Abnormal upper limb bone morphology", + "abnormal forelimb zeugopod bone", + "absent radius bone in the independent continuant", + "absent radius bone", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "Aplasia/hypoplasia involving forearm bones", + "Abnormality of the vasculature", + "aplastic forelimb zeugopod bone", + "decreased anatomical entity mass", + "abnormal long bone morphology", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "absent anatomical entity in the skeletal system", + "absent radius bone in the forelimb", + "Abnormality of the cell cycle", + "Global developmental delay", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the radius", + "abnormal radius bone morphology", + "Absent radius", + "abnormal response to stress", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal external male genitalia", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "decreased length of anatomical entity", + "absent sperm in the semen", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "absent sperm in the independent continuant", + "abnormality of internal male genitalia physiology", + "Decreased body weight", + "decreased qualitatively developmental process", + "absent gamete", + "abnormality of camera-type eye physiology", + "Reticulocytopenia", + "abnormal gamete", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system morphology", + "abnormal manual digit morphology in the independent continuant", + "Strabismus", + "absent kidney", + "absent anatomical entity in the independent continuant", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal axial skeleton morphology", + "aplasia or hypoplasia of manual digit", + "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "Puberty and gonadal disorders", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormality of limb bone", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "absent anatomical entity", + "abnormal sensory perception", + "abnormal manus", + "abnormal eye movement", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "Abnormal neutrophil count", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "agenesis of anatomical entity", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "U-shaped kidney", + "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of blood and blood-forming tissues", + "Aplasia/Hypoplasia of the thumb", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal bleeding", + "Renal hypoplasia/aplasia", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "Complete duplication of phalanx of hand", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal appendicular skeleton morphology", + "abnormal developmental process involved in reproduction", + "Thrombocytopenia", + "Abnormality of the immune system", + "abnormally localised anatomical entity", + "decreased spermatogenesis", + "abnormal kidney morphology", + "Abnormality of the genital system", + "abnormal arm", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "Abnormal leukocyte count", + "abnormal multicellular organismal reproductive process", + "Abnormality of eye movement", + "Abnormality of the urinary system", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "abnormally localised anatomical entity in independent continuant", + "abnormally decreased functionality of the gonad", + "Abnormal cell morphology", + "phenotype", + "absent digit", + "abnormally localised kidney", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal limb", + "Abnormality of the eye", + "abnormal upper urinary tract", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the limb", + "abnormally decreased number of neutrophil", + "shape anatomical entity", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "Aplasia/Hypoplasia of fingers", + "abnormal response to stimulus", + "abnormal skull morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "Abnormal platelet morphology", + "abnormal genitourinary system", + "Abnormality of the upper urinary tract", + "abnormal renal system", + "abnormal anatomical entity topology in independent continuant", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "abnormal renal system morphology", + "decreased sensory perception of sound", + "abnormal skin of body morphology", + "abnormal growth", + "abnormal leukocyte morphology", + "Aplasia involving bones of the extremities", + "increased qualitatively biological_process", + "All", + "abnormal granulocyte morphology", + "abnormal size of multicellular organism", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "abnormal anatomical entity morphology in the appendage girdle complex", + "Abnormal cellular phenotype", + "Ectopic kidney", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormality of DNA repair", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal testis morphology", + "abnormal neutrophil", + "Abnormality of the skin", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormality of neutrophils", + "Abnormality of skull size", + "Hematological neoplasm", + "Abnormality of the hand", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "aplasia or hypoplasia of manual digit 1", + "Leukemia", + "entity", + "abnormally decreased number of leukocyte in the independent continuant", + "Finger aplasia", + "continuant", + "Azoospermia", + "Abnormality of brain morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal immune system", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "abnormal manus morphology", + "abnormal digit", + "Microphthalmia", + "abnormal skeletal system", + "Irregular hyperpigmentation", + "abnormal limb bone morphology", + "abnormal testis morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Abnormal nervous system physiology", + "Prolonged G2 phase of cell cycle", + "abnormal cell cycle", + "abnormality of anatomical entity physiology", + "Abnormality of globe size", + "Non-obstructive azoospermia", + "Intellectual disability", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "Neurodevelopmental abnormality", + "Abnormal heart morphology", + "abnormal male reproductive system", + "Cognitive impairment", + "Abnormality of the nervous system", + "abnormal biological_process in independent continuant", + "abnormal anatomical entity morphology in the brain", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "Abnormal internal genitalia", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "abnormal DNA damage response", + "abnormal head morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Aplasia involving forearm bones", + "Abnormality of skin pigmentation", + "Abnormal skull morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Morphological central nervous system abnormality", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "Abnormality of head or neck", + "abnormal reproductive system", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "Abnormality of the head", + "abnormal phalanx of manus morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Hyperpigmentation of the skin", + "abnormal heart morphology", + "delayed growth", + "abnormal cardiovascular system", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "abnormal skin of body", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormality of cardiovascular system morphology", + "decreased size of the eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "increased pigmentation in skin of body", + "abnormal biological_process", + "abnormal integument", + "Macule", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "increased qualitatively biological_process in independent continuant", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Localized skin lesion", + "abnormal platelet", + "Cafe-au-lait spot", + "abnormal location of anatomical entity", + "abnormal bone marrow morphology", + "Hypermelanotic macule", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "increased biological_process in independent continuant", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormality of blood circulation", + "abnormally decreased number of reticulocyte", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "Pancytopenia", + "abnormal enucleated reticulocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "Abnormality of reproductive system physiology", + "abnormal craniocervical region morphology", + "anatomical entity dysfunction in independent continuant", + "Horseshoe kidney", + "absent sperm", + "abnormality of reproductive system physiology", + "Hypogonadism", + "absent kidney in the independent continuant", + "Growth abnormality", + "abnormal orbital region", + "Abnormal localization of kidney", + "Pallor", + "abnormal DNA repair", + "decreased qualitatively sensory perception of sound", + "abnormality of cardiovascular system physiology", + "Abnormality of the upper limb", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "Renal agenesis", + "Anemic pallor", + "aplasia or hypoplasia of radius bone", + "Abnormal erythrocyte morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "abnormal bone marrow cell morphology", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "Anemia", + "abnormal bone marrow cell", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Generalized abnormality of skin", + "abnormal internal genitalia", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + ], + "has_phenotype_count": 32, + "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:0009777", + "HP:0001627", + "HP:0002023", + "HP:0002984", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0001245", + "HP:0003774", + "HP:0025023", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Absent thumb", + "Abnormal heart morphology", + "Anal atresia", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia", + ], + "has_phenotype_closure": [ + "HP:0012732", + "HP:0002034", + "UPHENO:0087346", + "UPHENO:0002714", + "UPHENO:0076773", + "UPHENO:0076783", + "HP:0012718", + "UPHENO:0076735", + "HP:0002589", + "UPHENO:0002725", + "HP:0011100", + "HP:0025023", + "UPHENO:0063629", + "HP:0002250", + "HP:0011024", + "HP:0012211", + "HP:0011277", + "HP:0003774", + "UPHENO:0002411", + "UPHENO:0088142", + "UPHENO:0002655", + "UPHENO:0002442", + "UPHENO:0081433", + "UPHENO:0081341", + "HP:0009127", + "HP:0003011", + "UPHENO:0063632", + "HP:0001227", + "HP:0001421", + "UPHENO:0049874", + "UPHENO:0069254", + "UPHENO:0000543", + "HP:0009826", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0087510", + "UPHENO:0081313", + "UPHENO:0087501", + "UPHENO:0086172", + "HP:0009115", + "UPHENO:0076803", + "HP:0025031", + "HP:0001510", + "UPHENO:0086201", + "HP:0000811", + "UPHENO:0074228", + "UPHENO:0001005", + "UPHENO:0002597", + "HP:0011793", + "UPHENO:0076776", + "HP:0006503", + "UPHENO:0063599", + "UPHENO:0063565", + "HP:0011017", + "UPHENO:0002839", + "BFO:0000002", + "UPHENO:0053298", + "HP:0004322", + "UPHENO:0002833", + "UPHENO:0080099", + "HP:0030680", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0046411", + "UPHENO:0080351", + "UPHENO:0002964", + "UPHENO:0005016", + "HP:0000119", + "HP:0005773", + "HP:0001155", + "UPHENO:0077426", + "UPHENO:0084771", + "HP:0005922", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0084766", + "UPHENO:0021561", + "HP:0009821", + "HP:0025354", + "UPHENO:0080126", + "UPHENO:0076810", + "HP:0011844", + "UPHENO:0080079", + "HP:0009601", + "HP:0001507", + "UPHENO:0076703", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0008523", + "UPHENO:0006910", + "UPHENO:0002649", + "UPHENO:0084761", + "HP:0003026", + "HP:0009824", + "UPHENO:0084448", + "UPHENO:0086700", + "UPHENO:0081204", + "HP:0001245", + "HP:0004378", + "HP:0000001", + "UPHENO:0002896", + "UPHENO:0084829", + "HP:0001939", + "UPHENO:0001003", + "UPHENO:0012274", + "UPHENO:0086644", + "HP:0011314", + "UPHENO:0050121", + "UPHENO:0085875", + "HP:0009603", + "UPHENO:0046538", + "HP:0001167", + "HP:0040064", + "UPHENO:0076779", + "UPHENO:0050116", + "UPHENO:0049367", + "UPHENO:0068971", + "UPHENO:0078452", + "UPHENO:0001002", + "UPHENO:0080362", + "HP:0011297", + "HP:0001626", + "HP:0003220", + "UPHENO:0011498", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", + "UPHENO:0050113", + "HP:0034058", + "UPHENO:0086128", + "UPHENO:0049587", + "HP:0006501", + "UPHENO:0002708", + "HP:0000032", + "UPHENO:0087547", + "UPHENO:0001001", + "HP:0001197", + "UPHENO:0050021", + "HP:0045060", + "HP:0034915", + "UPHENO:0002830", + "UPHENO:0086682", + "HP:0025033", + "UPHENO:0050845", + "BFO:0000020", + "UPHENO:0081466", + "HP:0040012", + "HP:0000028", + "UPHENO:0049748", + "UPHENO:0076723", + "UPHENO:0002647", + "UPHENO:0049873", + "HP:0000083", + "UPHENO:0026506", + "HP:0000027", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0002984", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0080352", + "UPHENO:0026181", + "HP:0003241", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0076727", + "HP:0006265", + "HP:0011425", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0002595", + "UPHENO:0003055", + "HP:0011805", + "HP:0009777", + "UPHENO:0026183", + "HP:0040068", + "HP:0040070", + "UPHENO:0009382", + "UPHENO:0049990", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0088186", + "HP:0009815", + "HP:0000924", + "UPHENO:0079876", + "UPHENO:0063639", + "UPHENO:0002816", + "UPHENO:0053580", + "HP:0001172", + "HP:0000118", + "HP:0011842", + "UPHENO:0075696", + "UPHENO:0081790", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0080187", + "HP:0000812", + "HP:0040072", + "UPHENO:0081451", + "UPHENO:0087349", + "HP:0000002", + "UPHENO:0020041", + "UPHENO:0086198", + "HP:0002242", + "UPHENO:0076710", + "UPHENO:0081091", + "HP:0002973", + "UPHENO:0085874", + "UPHENO:0069294", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0076718", + "UPHENO:0075902", + "UPHENO:0046624", + "HP:0002023", + "HP:0002818", + "BFO:0000001", + "UPHENO:0002371", + "UPHENO:0086956", + "UPHENO:0002751", + "UPHENO:0079872", + "UPHENO:0012541", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0049940", + "HP:0010935", + "HP:0010944", + "UPHENO:0001072", + "UPHENO:0005651", + "UPHENO:0084132", + "UPHENO:0084124", + "HP:0008669", + "HP:0012210", + "UPHENO:0065599", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0084834", + "HP:0010945", + "UPHENO:0080377", + "HP:0034242", + "UPHENO:0053644", + "UPHENO:0002786", + "UPHENO:0075893", + "HP:0000079", + "UPHENO:0001478", + "UPHENO:0002598", + "UPHENO:0081792", + "HP:0000126", + "UPHENO:0005597", + "UPHENO:0085194", + "HP:0004097", + "HP:0000025", + "UPHENO:0020950", + "HP:0010461", + "HP:0009380", + "UPHENO:0002378", + "HP:0100871", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0010946", + "UPHENO:0080382", + "HP:0012243", + "UPHENO:0087846", + "UPHENO:0075949", + "HP:0012874", + "UPHENO:0049970", + "UPHENO:0049701", + "UPHENO:0078729", + "UPHENO:0049985", + "UPHENO:0080369", + "UPHENO:0086023", + "UPHENO:0052178", + "UPHENO:0087802", + "UPHENO:0085873", + "UPHENO:0081755", + "UPHENO:0087006", + "HP:0011961", + "UPHENO:0050101", + "UPHENO:0082875", + "UPHENO:0046707", + "HP:0000080", + "UPHENO:0087973", + "HP:0000035", + "HP:0012622", + "HP:0000078", + "HP:0006496", + "HP:0009778", + "HP:0009623", + "UPHENO:0050108", + "HP:0000107", + "HP:0001446", + "UPHENO:0084841", + "HP:0009484", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081423", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0000541", + ], + "has_phenotype_closure_label": [ + "Abnormal intestine morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal rectum", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormality of the gastrointestinal tract", + "Rectal atresia", + "Anorectal anomaly", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "Morphological abnormality of the gastrointestinal tract", + "rectum atresia", + "alimentary part of gastrointestinal system atresia", + "Chronic kidney disease", + "Renal insufficiency", + "Intestinal atresia", + "non-functional kidney", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "abnormality of kidney physiology", + "Small thenar eminence", + "abnormal musculature of limb", + "Abnormality of the musculature of the upper limbs", + "Abnormal palm morphology", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "Abnormality of the musculature of the hand", + "abnormal musculature", + "Abnormality of the thenar eminence", + "Abnormality of the musculature of the limbs", + "bone element hypoplasia in independent continuant", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal long bone morphology", + "abnormal radius bone morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "abnormal renal system", + "Abnormality of the anus", + "abnormally dilated renal pelvis", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormal heart morphology", + "radius bone hypoplasia", + "abnormal spatial pattern of anatomical entity", + "abnormal heart morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "absent anatomical entity in the limb", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormality of the musculature", + "abnormal digit", + "abnormal organelle organization", + "Anal atresia", + "Neoplasm", + "Cryptorchidism", + "abnormal manual digit morphology in the independent continuant", + "anatomical entity hypoplasia", + "aplasia or hypoplasia of skeleton", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of digestive system morphology", + "abnormal limb", + "anus atresia", + "Dilatation of the renal pelvis", + "Abnormality of the kidney", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "Abnormal anus morphology", + "abnormally localised anatomical entity", + "abnormal appendicular skeleton morphology", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Limb undergrowth", + "agenesis of anatomical entity", + "decreased developmental process", + "All", + "Abnormal upper limb bone morphology", + "intestine atresia", + "Proximal placement of thumb", + "abnormal digit morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "increased size of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "Renal cyst", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormality of renal system physiology", + "quality", + "Abnormal renal pelvis morphology", + "decreased length of long bone", + "Abnormality of prenatal development or birth", + "abnormal spermatogenesis", + "phenotype", + "absent digit", + "abnormal male reproductive system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal thenar eminence", + "abnormal nitrogen compound metabolic process", + "abnormal internal genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal cellular process", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "absent anatomical entity in the multicellular organism", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "aplastic anatomical entity", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal anatomical entity morphology in the palmar part of manus", + "absent manual digit", + "abnormal phenotype by ontology source", + "deviation of manual digit", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal cellular physiology", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal cell", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "abnormal anus", + "Abnormal digit morphology", + "phenotype by ontology source", + "Abnormal thumb morphology", + "Abnormality of the male genitalia", + "deviation of manual digit 1", + "abnormal limb bone morphology", + "abnormal testis morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "absent anatomical entity", + "decreased length of manual digit", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "abnormal cardiovascular system morphology", + "abnormality of multicellular organism height", + "forelimb zeugopod bone hypoplasia", + "Abnormality of the hand", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "abnormal number of anatomical enitites of type anatomical entity", + "increased size of the anatomical entity", + "abnormal limb bone", + "absent gamete", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of fingers", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Abnormality of the musculoskeletal system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "Short long bone", + "decreased height of the multicellular organism", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "Abnormality of body height", + "abnormal digestive system morphology", + "abnormal musculature of upper limb", + "continuant", + "Azoospermia", + "Finger aplasia", + "abnormal intestine morphology", + "aplastic manual digit 1", + "decreased qualitatively reproductive process", + "anatomical entity hypoplasia in independent continuant", + "abnormally localised testis", + "Abnormal large intestine morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormality of limb bone", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Hydronephrosis", + "decreased length of anatomical entity", + "absent sperm in the semen", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal fetal morphology", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "non-functional anatomical entity", + "aplasia or hypoplasia of radius bone", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal gamete", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal size of anatomical entity", + "abnormal external genitalia", + "abnormal renal system morphology", + "Abnormal fetal genitourinary system morphology", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "Abnormality of chromosome stability", + "abnormal kidney", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "absent germ cell", + "changed biological_process rate", + "abnormal upper urinary tract", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abnormal renal pelvis morphology", + "abnormal genitourinary system", + "abnormal renal pelvis", + "Fetal pyelectasis", + "abnormal late embryo", + "Abnormality of the urinary system", + "Abnormality of the genital system", + "increased size of the renal pelvis", + "Fetal ultrasound soft marker", + "abnormal number of anatomical enitites of type cell", + "abnormal multicellular organismal reproductive process", + "abnormal reproductive process", + "Abnormal internal genitalia", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal reproductive system", + "abnormal anatomical entity topology in independent continuant", + "Growth delay", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "Abnormal external genitalia", + "abnormal developmental process involved in reproduction", + "abnormal anatomical entity morphology in the pectoral complex", + "Functional abnormality of male internal genitalia", + "Abnormality of reproductive system physiology", + "absent anatomical entity in the semen", + "Abnormality of male external genitalia", + "Phenotypic abnormality", + "abnormal reproductive system morphology", + "decreased qualitatively developmental process", + "abnormality of internal male genitalia physiology", + "abnormal male reproductive system", + "abnormal kidney morphology", + "decreased spermatogenesis", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "abnormally localised anatomical entity in independent continuant", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal number of anatomical enitites of type sperm", + "Non-obstructive azoospermia", + "abnormal male reproductive organ morphology", + "Fetal anomaly", + "abnormal external male genitalia", + "Short finger", + "thenar eminence hypoplasia", + "decreased length of digit", + "Deviation of finger", + "abnormal manual digit 1 morphology", + "Short thumb", + "Short digit", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "abnormal primary metabolic process", + "Deviation of the hand or of fingers of the hand", + "abnormal size of multicellular organism", + "decreased height of the anatomical entity", + "abnormality of anatomical entity height", + "Aplasia/hypoplasia of the extremities", + "decreased biological_process", + "Short stature", + "decreased size of the multicellular organism", + "abnormal growth", + "abnormal cardiovascular system", + "delayed growth", + ], + "has_phenotype_count": 15, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013565", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group G", + "full_name": None, + "deprecated": None, + "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "xref": ["DOID:0111086", "EFO:0009046", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCG", + "Fanconi Anemia, complementation group type G", + "Fanconi anaemia complementation group type G", + "Fanconi anemia complementation group G", + "Fanconi anemia complementation group type G", + "Fanconi anemia, complementation group G", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001875", + "HP:0000252", + "HP:0002863", + "HP:0001510", + "HP:0001873", + "HP:0007565", + "HP:0000568", + "HP:0001172", + "HP:0001903", + "HP:0003220", + "HP:0001909", + ], + "has_phenotype_label": [ + "Neutropenia", + "Microcephaly", + "Myelodysplasia", + "Growth delay", + "Thrombocytopenia", + "Multiple cafe-au-lait spots", + "Microphthalmia", + "Abnormal thumb morphology", + "Anemia", + "Abnormality of chromosome stability", + "Leukemia", + ], + "has_phenotype_closure": [ + "HP:0011017", + "HP:0003220", + "HP:0012130", + "UPHENO:0088162", + "HP:0001909", + "HP:0001877", + "HP:0001903", + "UPHENO:0086700", + "UPHENO:0002708", + "UPHENO:0076727", + "HP:0001155", + "UPHENO:0084766", + "HP:0001167", + "UPHENO:0086633", + "HP:0005922", + "UPHENO:0076740", + "UPHENO:0086635", + "UPHENO:0084448", + "UPHENO:0076723", + "UPHENO:0076724", + "HP:0040068", + "HP:0001172", + "UPHENO:0012541", + "UPHENO:0087924", + "HP:0100887", + "UPHENO:0075997", + "HP:0000315", + "HP:0012372", + "UPHENO:0068971", + "HP:0000271", + "UPHENO:0080209", + "UPHENO:0075219", + "UPHENO:0079876", + "UPHENO:0069523", + "UPHENO:0002905", + "HP:0012733", + "HP:0000953", + "UPHENO:0076739", + "UPHENO:0002635", + "UPHENO:0080221", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0060026", + "UPHENO:0088170", + "UPHENO:0059829", + "HP:0011355", + "UPHENO:0054970", + "UPHENO:0080377", + "HP:0001574", + "HP:0040064", + "UPHENO:0080662", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0008056", + "BFO:0000002", + "UPHENO:0085076", + "HP:0007565", + "UPHENO:0085984", + "UPHENO:0085371", + "HP:0025354", + "HP:0032251", + "UPHENO:0004459", + "HP:0020047", + "HP:0011893", + "UPHENO:0085330", + "UPHENO:0022529", + "UPHENO:0075220", + "BFO:0000001", + "UPHENO:0035025", + "UPHENO:0088321", + "HP:0001507", + "UPHENO:0085068", + "HP:0001939", + "UPHENO:0088335", + "UPHENO:0074575", + "HP:0000929", + "UPHENO:0002880", + "HP:0032309", + "HP:0002813", + "UPHENO:0020584", + "UPHENO:0076799", + "UPHENO:0006910", + "HP:0012639", + "UPHENO:0002910", + "UPHENO:0086045", + "UPHENO:0086016", + "UPHENO:0086049", + "UPHENO:0049874", + "UPHENO:0085356", + "UPHENO:0076702", + "UPHENO:0085302", + "UPHENO:0085344", + "HP:0001881", + "HP:0002817", + "HP:0000707", + "UPHENO:0088176", + "UPHENO:0002948", + "HP:0011793", + "UPHENO:0000541", + "UPHENO:0086005", + "UPHENO:0084763", + "UPHENO:0087518", + "HP:0100547", + "HP:0000118", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0085042", + "UPHENO:0004523", + "HP:0002715", + "HP:0011297", + "UPHENO:0087472", + "UPHENO:0085118", + "HP:0010974", + "HP:0012443", + "PATO:0000001", + "UPHENO:0087006", + "UPHENO:0077426", + "HP:0001875", + "HP:0011844", + "UPHENO:0086172", + "UPHENO:0001005", + "HP:0007400", + "HP:0000001", + "UPHENO:0086019", + "UPHENO:0011498", + "HP:0009121", + "UPHENO:0085354", + "UPHENO:0088166", + "UPHENO:0076703", + "UPHENO:0001003", + "UPHENO:0054957", + "UPHENO:0015280", + "UPHENO:0086176", + "HP:0000478", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0074589", + "HP:0011991", + "BFO:0000020", + "HP:0002664", + "UPHENO:0002536", + "HP:0040195", + "UPHENO:0075195", + "UPHENO:0086173", + "HP:0001000", + "UPHENO:0001001", + "UPHENO:0076791", + "HP:0007364", + "HP:0002977", + "UPHENO:0087907", + "HP:0001911", + "UPHENO:0002764", + "HP:0001874", + "UPHENO:0076805", + "HP:0033127", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0011842", + "HP:0000240", + "UPHENO:0002896", + "HP:0000951", + "UPHENO:0086589", + "UPHENO:0049587", + "UPHENO:0084987", + "HP:0002011", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0020888", + "HP:0002060", + "HP:0000568", + "HP:0000152", + "HP:0001871", + "UPHENO:0075696", + "UPHENO:0074584", + "HP:0010987", + "HP:0000924", + "UPHENO:0081435", + "UPHENO:0080079", + "HP:0001873", + "HP:0000252", + "UPHENO:0003020", + "UPHENO:0002964", + "UPHENO:0001002", + "UPHENO:0002844", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0080200", + "UPHENO:0084761", + "UPHENO:0021474", + "HP:0011121", + "UPHENO:0081566", + "HP:0002863", + "UPHENO:0000543", + "HP:0004377", + "HP:0001510", + "HP:0011873", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0050008", + "UPHENO:0085405", + "HP:0011875", + "HP:0000957", + "HP:0001034", + "UPHENO:0074572", + ], + "has_phenotype_closure_label": [ + "Abnormality of metabolism/homeostasis", + "Abnormal cellular physiology", + "Abnormal erythrocyte morphology", + "abnormal manual digit 1 morphology", + "abnormal limb bone morphology", + "abnormal digit", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "abnormal limb", + "abnormal arm", + "Abnormality of the hand", + "Abnormality of limb bone", + "Abnormal digit morphology", + "Abnormal finger morphology", + "Abnormal appendicular skeleton morphology", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "Abnormal hand morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal limb morphology", + "abnormal manual digit morphology in the manus", + "Abnormality of chromosome stability", + "abnormal manus", + "abnormal forelimb morphology", + "Abnormality of the face", + "Microphthalmia", + "abnormal autopod region morphology", + "abnormal camera-type eye morphology", + "abnormal anatomical entity morphology in the manus", + "Abnormal eye morphology", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "aplasia or hypoplasia of eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "abnormal face morphology", + "increased biological_process", + "abnormal pigmentation in independent continuant", + "Hyperpigmentation of the skin", + "increased biological_process in independent continuant", + "Hypermelanotic macule", + "abnormally decreased number of anatomical entity in the independent continuant", + "Neutropenia", + "abnormal head", + "Abnormality of the upper limb", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", + "abnormal erythrocyte morphology", + "abnormally decreased number of anatomical entity", + "Abnormality of the immune system", + "Abnormal leukocyte count", + "abnormal granulocyte morphology", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormally decreased number of myeloid cell", + "abnormal central nervous system morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the integument", + "aplasia or hypoplasia of anatomical entity", + "abnormal immune system", + "abnormal anatomical entity", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Abnormal cerebral morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of skull size", + "Abnormality of neutrophils", + "abnormally decreased number of cell in the independent continuant", + "phenotype", + "quality", + "decreased size of the eyeball of camera-type eye", + "Neoplasm by anatomical site", + "Abnormality of skin pigmentation", + "abnormal craniocervical region", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Growth abnormality", + "increased pigmentation in skin of body", + "Leukemia", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal head morphology", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "abnormal skin of body morphology", + "increased qualitatively biological_process", + "Abnormality of the skin", + "abnormal neutrophil", + "abnormal orbital region", + "Abnormal cell morphology", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "specifically dependent continuant", + "abnormal immune system morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "abnormal digit morphology", + "Thrombocytopenia", + "Abnormal forebrain morphology", + "Anemia", + "Abnormality of the head", + "abnormal phenotype by ontology source", + "abnormal growth", + "Abnormal cellular phenotype", + "Abnormal thumb morphology", + "phenotype by ontology source", + "Decreased head circumference", + "delayed growth", + "Abnormality of globe size", + "increased pigmentation", + "increased pigmentation in independent continuant", + "abnormal limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "increased qualitatively biological_process in independent continuant", + "abnormal leukocyte morphology", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal nervous system morphology", + "Cafe-au-lait spot", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic system", + "entity", + "Abnormality of blood and blood-forming tissues", + "abnormal cell morphology", + "abnormal size of skull", + "abnormal face", + "abnormally decreased number of hematopoietic cell", + "abnormal myeloid cell morphology", + "changed biological_process rate", + "abnormal forebrain morphology", + "Abnormal myeloid cell morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal neutrophil count", + "abnormal appendicular skeleton morphology", + "abnormal blood cell", + "All", + "continuant", + "abnormal craniocervical region morphology", + "abnormal size of eyeball of camera-type eye", + "Abnormal cellular immune system morphology", + "abnormal axial skeleton plus cranial skeleton morphology", + "Hematological neoplasm", + "abnormal anatomical entity morphology in the brain", + "aplasia or hypoplasia of telencephalon", + "Myelodysplasia", + "decreased size of the anatomical entity in the independent continuant", + "abnormal telencephalon morphology", + "Multiple cafe-au-lait spots", + "Abnormal leukocyte morphology", + "abnormal brain morphology", + "Abnormal skull morphology", + "Abnormality of the eye", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "Abnormality of head or neck", + "Morphological central nervous system abnormality", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "Aplasia/Hypoplasia affecting the eye", + "abnormal postcranial axial skeleton morphology", + "Neoplasm", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "decreased size of the anatomical entity", + "Abnormal granulocyte count", + "abnormally decreased number of neutrophil", + "Abnormality of the skeletal system", + "Irregular hyperpigmentation", + "abnormal skeletal system", + "abnormal biological_process in independent continuant", + "increased biological_process in skin of body", + "Abnormality of the nervous system", + "abnormal erythroid lineage cell morphology", + "abnormal skull morphology", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", + "abnormal integument", + "abnormal biological_process", + "Growth delay", + "delayed biological_process", + "Abnormality of thrombocytes", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet morphology", + "Abnormal platelet count", + "Localized skin lesion", + "abnormal platelet", + "Abnormality of skin morphology", + "Macule", + "abnormal pigmentation", + "abnormal skin of body", + ], + "has_phenotype_count": 11, + "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:0009777", + "HP:0000252", + "HP:0002247", + "HP:0002984", + "HP:0002863", + "HP:0002119", + "HP:0001510", + "HP:0001511", + "HP:0001748", + "HP:0000824", + "HP:0002518", + "HP:0002308", + "HP:0031689", + "HP:0011800", + "HP:0000089", + "HP:0410049", + ], + "has_phenotype_label": [ + "Absent thumb", + "Microcephaly", + "Duodenal atresia", + "Hypoplasia of the radius", + "Myelodysplasia", + "Ventriculomegaly", + "Growth delay", + "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": [ + "HP:0000089", + "HP:0000079", + "HP:0012210", + "UPHENO:0081210", + "HP:0010935", + "HP:0000271", + "UPHENO:0081227", + "UPHENO:0081786", + "UPHENO:0087472", + "UPHENO:0002910", + "UPHENO:0087585", + "UPHENO:0088145", + "UPHENO:0084928", + "HP:0025354", + "UPHENO:0085195", + "HP:0012143", + "UPHENO:0076957", + "UPHENO:0072814", + "UPHENO:0071309", + "HP:0011282", + "UPHENO:0081601", + "HP:0001317", + "UPHENO:0086932", + "UPHENO:0087531", + "UPHENO:0021803", + "HP:0002518", + "HP:0002500", + "UPHENO:0076953", + "UPHENO:0073937", + "UPHENO:0074037", + "HP:0002438", + "HP:0002180", + "HP:0002352", + "UPHENO:0081547", + "HP:0003117", + "UPHENO:0076779", + "UPHENO:0077872", + "UPHENO:0087355", + "UPHENO:0051668", + "UPHENO:0076720", + "UPHENO:0082875", + "UPHENO:0042775", + "HP:0032367", + "UPHENO:0080221", + "UPHENO:0086735", + "UPHENO:0076287", + "UPHENO:0077889", + "HP:0011747", + "HP:0005927", + "HP:0000818", + "HP:0011793", + "UPHENO:0002833", + "UPHENO:0080099", + "HP:0007364", + "UPHENO:0081594", + "HP:0002589", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0002964", + "UPHENO:0008668", + "HP:0002246", + "UPHENO:0076735", + "UPHENO:0063629", + "UPHENO:0075182", + "HP:0002308", + "UPHENO:0081566", + "UPHENO:0084761", + "HP:0003026", + "UPHENO:0080200", + "UPHENO:0063565", + "UPHENO:0001002", + "UPHENO:0075220", + "UPHENO:0086172", + "HP:0000707", + "HP:0002984", + "HP:0002817", + "HP:0000252", + "UPHENO:0081435", + "HP:0000924", + "UPHENO:0076718", + "UPHENO:0004523", + "HP:0011283", + "UPHENO:0020888", + "HP:0000234", + "UPHENO:0081598", + "UPHENO:0002896", + "HP:0000929", + "HP:0011800", + "HP:0025461", + "UPHENO:0076805", + "HP:0100763", + "UPHENO:0001001", + "UPHENO:0075195", + "UPHENO:0063639", + "UPHENO:0002808", + "UPHENO:0022529", + "UPHENO:0086700", + "UPHENO:0080187", + "HP:0410049", + "UPHENO:0020584", + "HP:0002813", + "HP:0002977", + "HP:0025033", + "UPHENO:0026028", + "PATO:0000001", + "HP:0009380", + "UPHENO:0084763", + "UPHENO:0076702", + "UPHENO:0002708", + "UPHENO:0002764", + "UPHENO:0084448", + "HP:0009824", + "UPHENO:0087501", + "BFO:0000001", + "UPHENO:0076790", + "HP:0006496", + "UPHENO:0086621", + "UPHENO:0014240", + "HP:0000001", + "UPHENO:0002830", + "HP:0100547", + "UPHENO:0002880", + "HP:0002247", + "UPHENO:0080362", + "HP:0012503", + "UPHENO:0002725", + "HP:0000830", + "HP:0012443", + "UPHENO:0076783", + "UPHENO:0026181", + "UPHENO:0026506", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "HP:0011297", + "HP:0000119", + "HP:0000152", + "UPHENO:0076799", + "UPHENO:0080126", + "HP:0000118", + "HP:0001172", + "UPHENO:0083951", + "UPHENO:0076724", + "HP:0040075", + "UPHENO:0087006", + "HP:0009799", + "HP:0000240", + "UPHENO:0063569", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0002664", + "UPHENO:0076727", + "HP:0006265", + "UPHENO:0087089", + "UPHENO:0087123", + "UPHENO:0009382", + "HP:0040070", + "UPHENO:0075902", + "UPHENO:0081436", + "UPHENO:0086771", + "UPHENO:0084771", + "HP:0005922", + "HP:0031689", + "HP:0010662", + "HP:0009601", + "HP:0001507", + "UPHENO:0075774", + "UPHENO:0087902", + "HP:0045060", + "HP:0031072", + "UPHENO:0080220", + "UPHENO:0052778", + "UPHENO:0076723", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0076740", + "HP:0011024", + "UPHENO:0071344", + "UPHENO:0081466", + "UPHENO:0046540", + "HP:0011842", + "UPHENO:0075696", + "UPHENO:0081790", + "HP:0001871", + "HP:0040195", + "UPHENO:0001005", + "UPHENO:0074228", + "HP:0031073", + "HP:0011100", + "HP:0009121", + "HP:0009115", + "HP:0000864", + "UPHENO:0011498", + "HP:0009777", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0005652", + "UPHENO:0083689", + "UPHENO:0051804", + "UPHENO:0003116", + "BFO:0000002", + "HP:0012639", + "UPHENO:0006910", + "HP:0002011", + "UPHENO:0084766", + "UPHENO:0087518", + "UPHENO:0008523", + "HP:0005561", + "UPHENO:0083952", + "UPHENO:0002678", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0059874", + "HP:0040064", + "HP:0001167", + "HP:0011844", + "UPHENO:0080079", + "UPHENO:0080393", + "HP:0001155", + "HP:0025031", + "UPHENO:0076803", + "UPHENO:0012274", + "UPHENO:0069110", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0087907", + "HP:0006501", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0076293", + "HP:0009826", + "HP:0001748", + "UPHENO:0068971", + "UPHENO:0049724", + "UPHENO:0081204", + "HP:0009821", + "HP:0005773", + "UPHENO:0080114", + "UPHENO:0005433", + "UPHENO:0020013", + "HP:0006503", + "HP:0009815", + "UPHENO:0088186", + "UPHENO:0075175", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0004459", + "UPHENO:0076286", + "HP:0040072", + "HP:0002242", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "HP:0002973", + "HP:0010993", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", + "UPHENO:0012541", + "HP:0007367", + "HP:0002863", + "UPHENO:0081562", + "HP:0004377", + "UPHENO:0075772", + "HP:0001511", + "UPHENO:0000543", + "HP:0002118", + "HP:0001743", + "UPHENO:0065599", + "HP:0012718", + "UPHENO:0088047", + "UPHENO:0079876", + "HP:0002119", + "UPHENO:0001440", + "UPHENO:0000541", + "UPHENO:0005642", + "HP:0002244", + "HP:0001510", + "UPHENO:0002844", + "UPHENO:0049587", + "HP:0031071", + "UPHENO:0077890", + "HP:0002597", + "UPHENO:0049874", + "UPHENO:0056059", + "UPHENO:0080382", + "UPHENO:0080377", + "HP:0000309", + "UPHENO:0085144", + "UPHENO:0050108", + "UPHENO:0078743", + "HP:0008678", + "UPHENO:0052178", + "UPHENO:0081792", + "UPHENO:0005597", + "UPHENO:0046538", + "UPHENO:0050034", + "UPHENO:0050121", + "UPHENO:0002948", + "UPHENO:0087267", + "HP:0001626", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0087940", + "UPHENO:0087339", + "UPHENO:0002819", + "HP:0002012", + "UPHENO:0014335", + "HP:0002715", + "HP:0025408", + "UPHENO:0076289", + "UPHENO:0087376", + "UPHENO:0020041", + "UPHENO:0049647", + "HP:0002060", + "HP:0000824", + "UPHENO:0051763", + "UPHENO:0001072", + "UPHENO:0076812", + "UPHENO:0077887", + "UPHENO:0080588", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0087516", + "UPHENO:0081628", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0004618", + "UPHENO:0046284", + "UPHENO:0049927", + "UPHENO:0077873", + "UPHENO:0075995", + ], + "has_phenotype_closure_label": [ + "Abnormal radial ray morphology", + "Renal hypoplasia", + "abnormal kidney morphology", + "Abnormality of the urinary system", + "Abnormality of the upper urinary tract", + "Renal hypoplasia/aplasia", + "abnormal size of kidney", + "abnormal renal system", + "abnormal upper urinary tract", + "decreased size of the kidney", + "abnormal renal system morphology", + "Abnormality of the face", + "abnormal midface morphology", + "anatomical entity hypoplasia in face", + "abnormal face", + "abnormal bone marrow cell", + "Abnormal megakaryocyte morphology", + "Midface retrusion", + "abnormal bone marrow cell morphology", + "abnormal cell", + "abnormal megakaryocyte morphology", + "Megakaryocyte dysplasia", + "abnormal cerebellum morphology", + "abnormally formed anatomical entity in independent continuant", + "Abnormal hindbrain morphology", + "Cerebellar malformation", + "abnormally formed anatomical entity", + "Abnormal cerebellum morphology", + "abnormal cerebral hemisphere white matter morphology", + "Abnormal periventricular white matter morphology", + "Atrophy/Degeneration affecting the central nervous system", + "anatomical entity degeneration", + "Leukoencephalopathy", + "anatomical entity degeneration in independent continuant", + "cerebral hemisphere white matter degeneration", + "Abnormal cerebral white matter morphology", + "abnormal neuroendocrine gland morphology", + "abnormal role blood level", + "Abnormal growth hormone level", + "Abnormality of the kidney", + "decreased biological_process in pituitary gland", + "abnormal diencephalon morphology", + "abnormal hormone independent continuant level", + "decreased biological_process in multicellular organism", + "Abnormality of the anterior pituitary", + "Duodenal atresia", + "anatomical entity hypoplasia in independent continuant", + "Decreased response to growth hormone stimulation test", + "Abnormal duodenum morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", + "Abnormality of the gastrointestinal tract", + "Abnormal cell morphology", + "phenotype", + "abnormal hindbrain morphology", + "abnormal cerebral subcortex morphology", + "abnormal brain white matter morphology", + "absent digit", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "duodenum atresia", + "abnormal forelimb zeugopod bone", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormality of the nervous system", + "abnormal biological_process in independent continuant", + "abnormal kidney", + "abnormal central nervous system morphology", + "abnormal long bone morphology", + "Neoplasm", + "malformed anatomical entity", + "Morphological central nervous system abnormality", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal metencephalon morphology", + "abnormal secretion by cell", + "Abnormal skull morphology", + "decreased embryo development", + "abnormal brain morphology", + "abnormal hypothalamus-pituitary axis", + "aplasia or hypoplasia of telencephalon", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "Decreased head circumference", + "Abnormal axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "abnormal size of anatomical entity", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal midface morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of digestive system morphology", + "abnormal limb", + "abnormal developmental process", + "Polysplenia", + "Abnormal appendicular skeleton morphology", + "abnormal head", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormality of endocrine system physiology", + "Abnormal finger morphology", + "abnormal craniocervical region morphology", + "continuant", + "abnormal embryo development", + "Abnormality of limb bone morphology", + "Hypopituitarism", + "Abnormality of limbs", + "abnormal brain ventricle/choroid plexus morphology", + "aplastic anatomical entity", + "abnormal vasculature", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal chemical entity level", + "abnormal spleen morphology", + "Abnormality of the musculoskeletal system", + "Neurodegeneration", + "agenesis of anatomical entity", + "decreased developmental process", + "abnormal endocrine system morphology", + "All", + "Abnormal upper limb bone morphology", + "Abnormal cerebral ventricle morphology", + "decreased qualitatively biological_process", + "absent anatomical entity", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "abnormal small intestine", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal forebrain morphology", + "changed biological_process rate", + "abnormal pituitary gland morphology", + "Growth abnormality", + "abnormal cellular process", + "Abnormality of skull size", + "Abnormality of head or neck", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal gland morphology", + "Morphological abnormality of the gastrointestinal tract", + "decreased qualitatively biological_process in central nervous system", + "abnormal cerebral hemisphere morphology", + "alimentary part of gastrointestinal system atresia", + "abnormal adenohypophysis", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal hand morphology", + "Neoplasm by anatomical site", + "absent anatomical entity in the independent continuant", + "abnormal small intestine morphology", + "Aplasia/hypoplasia involving bones of the hand", + "bone element hypoplasia in independent continuant", + "Myelodysplasia", + "Abnormal nervous system morphology", + "abnormal limb bone", + "increased size of the anatomical entity", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal duodenum morphology", + "Phenotypic abnormality", + "increased size of the anatomical entity in independent continuant", + "changed biological_process rate in brain", + "quality", + "abnormal limb bone morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "abnormal manus", + "abnormal size of skull", + "abnormal hormone blood level", + "abnormal digestive system morphology", + "kidney hypoplasia", + "Finger aplasia", + "abnormal localization", + "abnormal skull morphology", + "Anterior hypopituitarism", + "Abnormal thumb morphology", + "abnormal nervous system", + "abnormal secretion in independent continuant", + "decreased secretion in pituitary gland", + "Abnormal cerebral subcortex morphology", + "abnormal head morphology", + "Abnormal morphology of the radius", + "Abnormal digit morphology", + "abnormal hematopoietic system morphology", + "midface hypoplasia", + "Abnormal intestine morphology", + "Abnormal pituitary gland morphology", + "Abnormal endocrine morphology", + "absent anatomical entity in the forelimb", + "abnormal arm", + "Chiari malformation", + "Abnormality of the head", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "aplastic manual digit 1", + "abnormal intestine morphology", + "abnormal anatomical entity morphology in the brain", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "Abnormal small intestine morphology", + "Abnormality of limb bone", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "absent anatomical entity in the multicellular organism", + "aplasia or hypoplasia of manual digit", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "abnormal appendicular skeleton morphology", + "Absent thumb", + "abnormal autopod region morphology", + "abnormally increased number of spleen", + "Intestinal atresia", + "abnormal face morphology", + "Limb undergrowth", + "decreased length of long bone", + "delayed biological_process", + "Short forearm", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "decreased length of anatomical entity", + "abnormal growth hormone secretion", + "abnormal bone of pectoral complex morphology", + "abnormal limb long bone morphology", + "Abnormality of the hand", + "Hematological neoplasm", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "aplasia or hypoplasia of radius bone", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal hematopoietic system", + "Abnormality of blood and blood-forming tissues", + "abnormal brain ventricle morphology", + "increased size of the brain ventricle", + "Ventriculomegaly", + "abnormal role bodily fluid level", + "abnormal biological_process", + "Growth delay", + "Supernumerary spleens", + "abnormal growth", + "abnormal digit", + "abnormal development of anatomical entity", + "decreased qualitatively developmental process", + "abnormal bone marrow morphology", + "decreased biological_process in independent continuant", + "abnormal manual digit 1 morphology", + "Intrauterine growth retardation", + "changed embryo development rate", + "Abnormal spleen morphology", + "decreased qualitatively biological_process in independent continuant", + "abnormal radius bone morphology", + "abnormal hemopoietic organ morphology", + "abnormally increased number of anatomical entity", + "abnormal spleen", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal diencephalon", + "Abnormality of the abdominal organs", + "radius bone hypoplasia", + "Abnormality of the vasculature", + "delayed growth", + "abnormal cardiovascular system", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the lymphatic system", + "abnormal genitourinary system", + "abnormal lymphatic part of lymphoid system", + "abnormal immune system", + "Short long bone", + "abnormally increased number of anatomical entity in the abdomen", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Abnormality of the immune system", + "Abnormality of the spleen", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "abnormal transport", + "abnormal endocrine system", + "decreased growth hormone secretion", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal multicellular organism chemical entity level", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal biological_process in central nervous system", + "decreased biological_process in brain", + "intestine atresia", + "Abnormal endocrine physiology", + "Abnormality of the endocrine system", + "decreased secretion in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormal response to endocrine stimulation test", + "Abnormality of the diencephalon", + "abnormal independent continuant chemical entity level", + "Abnormal circulating hormone concentration", + "abnormal role independent continuant level", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + ], + "has_phenotype_count": 16, + "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", "EFO:0009045", "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:0009777", + "HP:0000960", + "HP:0002247", + "HP:0002984", + "HP:0000028", + "HP:0001631", + "HP:0009778", + "HP:0001873", + "HP:0000125", + "HP:0000405", + "HP:0000824", + "HP:0001511", + "HP:0008551", + "HP:0000750", + "HP:0001882", + "HP:0000252", + "HP:0000957", + "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:0001561", + "HP:0011419", + ], + "has_phenotype_label": [ + "Absent thumb", + "Sacral dimple", + "Duodenal atresia", + "Hypoplasia of the radius", + "Cryptorchidism", + "Atrial septal defect", + "Short thumb", + "Thrombocytopenia", + "Pelvic kidney", + "Conductive hearing impairment", + "Decreased response to growth hormone stimulation test", + "Intrauterine growth retardation", + "Microtia", + "Delayed speech and language development", + "Leukopenia", + "Microcephaly", + "Cafe-au-lait spot", + "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", + "Polyhydramnios", + "Placental abruption", + ], + "has_phenotype_closure": [ + "UPHENO:0005170", + "HP:0011419", + "HP:0100767", + "HP:0001561", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0078215", + "HP:0001159", + "UPHENO:0076747", + "HP:0004100", + "UPHENO:0078288", + "UPHENO:0078125", + "UPHENO:0069254", + "HP:0001233", + "UPHENO:0078307", + "UPHENO:0082671", + "UPHENO:0081210", + "UPHENO:0075182", + "HP:0008678", + "HP:0011403", + "HP:0001194", + "HP:0001195", + "UPHENO:0075949", + "HP:0010881", + "HP:0010948", + "UPHENO:0054299", + "UPHENO:0054261", + "UPHENO:0082794", + "UPHENO:0053208", + "UPHENO:0010795", + "HP:0001508", + "UPHENO:0082761", + "UPHENO:0088162", + "HP:0001877", + "HP:0001328", + "UPHENO:0087548", + "UPHENO:0003058", + "UPHENO:0069391", + "HP:0008736", + "HP:0000036", + "UPHENO:0081320", + "UPHENO:0063722", + "UPHENO:0085068", + "HP:0000370", + "UPHENO:0076805", + "UPHENO:0085189", + "UPHENO:0021561", + "HP:0000315", + "UPHENO:0086005", + "HP:0009778", + "HP:0030680", + "UPHENO:0076779", + "UPHENO:0077872", + "UPHENO:0002642", + "UPHENO:0080325", + "UPHENO:0002437", + "HP:0009777", + "UPHENO:0076810", + "UPHENO:0086863", + "UPHENO:0049647", + "UPHENO:0075655", + "UPHENO:0015324", + "HP:0000925", + "UPHENO:0052970", + "HP:0001626", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0081594", + "UPHENO:0076289", + "HP:0000080", + "UPHENO:0087472", + "HP:0000708", + "HP:0011961", + "UPHENO:0002844", + "UPHENO:0081755", + "HP:0000234", + "UPHENO:0080693", + "UPHENO:0087018", + "UPHENO:0087802", + "HP:0010662", + "UPHENO:0068843", + "UPHENO:0080209", + "UPHENO:0053588", + "UPHENO:0002240", + "UPHENO:0041226", + "UPHENO:0049985", + "UPHENO:0049701", + "HP:0000750", + "UPHENO:0053644", + "UPHENO:0087433", + "HP:0001627", + "UPHENO:0049970", + "HP:0011873", + "UPHENO:0050108", + "UPHENO:0087006", + "UPHENO:0085144", + "UPHENO:0087846", + "UPHENO:0080377", + "UPHENO:0078267", + "HP:0001000", + "UPHENO:0080382", + "HP:0012874", + "UPHENO:0002332", + "UPHENO:0086857", + "UPHENO:0049874", + "HP:0002597", + "UPHENO:0085344", + "UPHENO:0020950", + "HP:0003117", + "HP:0008056", + "UPHENO:0085194", + "UPHENO:0005597", + "UPHENO:0088170", + "UPHENO:0081792", + "UPHENO:0002598", + "UPHENO:0012541", + "UPHENO:0079872", + "UPHENO:0002751", + "HP:0005120", + "UPHENO:0086956", + "UPHENO:0050113", + "UPHENO:0002371", + "UPHENO:0015290", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0080220", + "HP:0000027", + "UPHENO:0069294", + "HP:0011121", + "UPHENO:0081091", + "HP:0002242", + "UPHENO:0003017", + "UPHENO:0086198", + "UPHENO:0033559", + "UPHENO:0076727", + "HP:0040072", + "UPHENO:0080187", + "UPHENO:0054957", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "HP:0006503", + "UPHENO:0005433", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0005773", + "HP:0025354", + "HP:0009821", + "HP:0001155", + "UPHENO:0076783", + "HP:0011844", + "HP:0001167", + "UPHENO:0085875", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0008523", + "UPHENO:0087518", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0084766", + "UPHENO:0006910", + "UPHENO:0050034", + "UPHENO:0081095", + "HP:0001873", + "HP:0001034", + "UPHENO:0001003", + "UPHENO:0003055", + "UPHENO:0021474", + "UPHENO:0086201", + "UPHENO:0086023", + "HP:0001510", + "HP:0009121", + "HP:0011100", + "UPHENO:0081790", + "UPHENO:0083263", + "UPHENO:0075696", + "HP:0011842", + "HP:0000078", + "UPHENO:0063569", + "UPHENO:0046540", + "UPHENO:0059874", + "HP:0011024", + "HP:0002244", + "UPHENO:0088337", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0002378", + "UPHENO:0060026", + "HP:0002086", + "UPHENO:0050625", + "HP:0000929", + "HP:0010767", + "HP:0005107", + "UPHENO:0049940", + "HP:0003241", + "HP:0010935", + "UPHENO:0088186", + "UPHENO:0002901", + "UPHENO:0076723", + "HP:0045060", + "HP:0009601", + "UPHENO:0075961", + "HP:0000089", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "HP:0005922", + "UPHENO:0052178", + "UPHENO:0015303", + "HP:0008551", + "UPHENO:0087547", + "HP:0040070", + "HP:0031704", + "UPHENO:0084771", + "UPHENO:0086771", + "UPHENO:0026183", + "UPHENO:0002476", + "UPHENO:0049367", + "UPHENO:0087089", + "UPHENO:0059829", + "HP:0034434", + "UPHENO:0082878", + "UPHENO:0081313", + "HP:0002664", + "HP:0034057", + "HP:0006265", + "UPHENO:0078606", + "UPHENO:0078452", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0004618", + "UPHENO:0077426", + "UPHENO:0075219", + "UPHENO:0087334", + "HP:0011603", + "HP:0009381", + "HP:0000025", + "HP:0002973", + "HP:0001172", + "UPHENO:0053580", + "UPHENO:0063639", + "UPHENO:0079876", + "HP:0000924", + "UPHENO:0049927", + "UPHENO:0080126", + "HP:0011297", + "UPHENO:0001002", + "UPHENO:0087924", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0026506", + "UPHENO:0084987", + "UPHENO:0080362", + "HP:0002247", + "UPHENO:0002880", + "HP:0100547", + "UPHENO:0076675", + "UPHENO:0002830", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "HP:0000032", + "HP:0040012", + "UPHENO:0022529", + "HP:0040068", + "UPHENO:0002708", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0084763", + "HP:0002088", + "UPHENO:0078159", + "UPHENO:0049584", + "HP:0025033", + "UPHENO:0001001", + "HP:0002817", + "HP:0002984", + "HP:0000118", + "UPHENO:0046411", + "UPHENO:0087516", + "HP:0002818", + "HP:0002813", + "UPHENO:0020584", + "UPHENO:0053298", + "BFO:0000002", + "HP:0000364", + "HP:0012639", + "UPHENO:0084448", + "HP:0009824", + "HP:0001882", + "HP:0000001", + "UPHENO:0076695", + "HP:0010781", + "HP:0008669", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0001574", + "UPHENO:0002896", + "UPHENO:0009382", + "UPHENO:0080300", + "HP:0000951", + "UPHENO:0003811", + "UPHENO:0088166", + "UPHENO:0002813", + "UPHENO:0078729", + "HP:0000960", + "HP:0003220", + "HP:0001671", + "HP:0003026", + "UPHENO:0005431", + "UPHENO:0086172", + "HP:0000864", + "UPHENO:0087501", + "UPHENO:0076739", + "UPHENO:0080079", + "HP:0007364", + "UPHENO:0046538", + "UPHENO:0087349", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0081204", + "HP:0001197", + "HP:0011446", + "UPHENO:0019888", + "HP:0011425", + "HP:0040195", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0005016", + "UPHENO:0076799", + "HP:0000119", + "HP:0000152", + "UPHENO:0078081", + "UPHENO:0076735", + "UPHENO:0033572", + "HP:0009815", + "HP:0002246", + "HP:0002589", + "BFO:0000001", + "UPHENO:0002635", + "HP:0031072", + "HP:0012718", + "UPHENO:0080099", + "UPHENO:0010763", + "UPHENO:0002833", + "UPHENO:0076776", + "HP:0011793", + "HP:0005927", + "UPHENO:0049700", + "UPHENO:0083689", + "HP:0009380", + "UPHENO:0074228", + "HP:0000811", + "UPHENO:0085873", + "UPHENO:0046284", + "HP:0025031", + "UPHENO:0076803", + "HP:0000377", + "HP:0011314", + "UPHENO:0086699", + "UPHENO:0012274", + "UPHENO:0085118", + "UPHENO:0087510", + "PATO:0000001", + "UPHENO:0080110", + "UPHENO:0075195", + "HP:0009826", + "UPHENO:0076293", + "HP:0020047", + "UPHENO:0086049", + "UPHENO:0075995", + "HP:0030260", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0081466", + "UPHENO:0002903", + "HP:0001871", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0085302", + "UPHENO:0084928", + "UPHENO:0084761", + "HP:0001872", + "UPHENO:0086173", + "HP:0100542", + "HP:0012210", + "HP:0000086", + "HP:0001560", + "UPHENO:0015280", + "UPHENO:0075902", + "UPHENO:0081436", + "HP:0000079", + "UPHENO:0050121", + "HP:0000405", + "UPHENO:0078743", + "UPHENO:0076703", + "UPHENO:0085330", + "UPHENO:0005518", + "HP:0011947", + "HP:0000598", + "HP:0000028", + "UPHENO:0052231", + "HP:0031703", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076901", + "HP:0000365", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0087940", + "UPHENO:0078179", + "UPHENO:0080585", + "HP:0001881", + "UPHENO:0087376", + "HP:0025634", + "UPHENO:0001005", + "UPHENO:0050620", + "HP:0000824", + "UPHENO:0076702", + "HP:0040075", + "HP:0025461", + "UPHENO:0051763", + "UPHENO:0087374", + "UPHENO:0083951", + "HP:0012733", + "UPHENO:0049588", + "HP:0004323", + "UPHENO:0005652", + "UPHENO:0085984", + "HP:0012503", + "UPHENO:0083952", + "HP:0008771", + "UPHENO:0049873", + "UPHENO:0002678", + "UPHENO:0046624", + "UPHENO:0011498", + "UPHENO:0077890", + "UPHENO:0076286", + "UPHENO:0049724", + "UPHENO:0080588", + "UPHENO:0077887", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "HP:0034058", + "UPHENO:0077873", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0049587", + "HP:0011747", + "HP:0009115", + "UPHENO:0004523", + "UPHENO:0002595", + "UPHENO:0079826", + "UPHENO:0077889", + "UPHENO:0050116", + "UPHENO:0076287", + "HP:0002060", + "HP:0012372", + "HP:0011452", + "UPHENO:0086735", + "UPHENO:0080221", + "HP:0032367", + "UPHENO:0087186", + "UPHENO:0081435", + "UPHENO:0020888", + "UPHENO:0075997", + "UPHENO:0042775", + "HP:0000818", + "UPHENO:0075772", + "UPHENO:0074572", + "HP:0001511", + "UPHENO:0000543", + "UPHENO:0051668", + "UPHENO:0087355", + "HP:0012243", + "UPHENO:0081547", + "UPHENO:0000541", + "UPHENO:0005642", + "HP:0001507", + "UPHENO:0080393", + "HP:0012145", + "HP:0040064", + "UPHENO:0080111", + "HP:0012759", + "UPHENO:0076730", + "UPHENO:0081119", + "UPHENO:0082129", + "UPHENO:0005986", + "HP:0000356", + "UPHENO:0085874", + "HP:0008772", + "UPHENO:0078278", + "UPHENO:0069196", + "UPHENO:0020659", + "UPHENO:0049990", + "UPHENO:0049622", + "UPHENO:0069110", + "UPHENO:0019890", + "UPHENO:0002263", + "UPHENO:0019970", + "UPHENO:0087309", + "UPHENO:0051804", + "HP:0002167", + "UPHENO:0080114", + "HP:0002463", + "HP:0000076", + "UPHENO:0049586", + "UPHENO:0002433", + "HP:0006101", + "HP:0012638", + "UPHENO:0087643", + "UPHENO:0002948", + "UPHENO:0050101", + "UPHENO:0088338", + "UPHENO:0075872", + "UPHENO:0035147", + "UPHENO:0078327", + "UPHENO:0087123", + "HP:0001631", + "UPHENO:0085410", + "UPHENO:0088319", + "UPHENO:0088321", + "HP:0002715", + "HP:0010460", + "UPHENO:0035025", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "HP:0002977", + "HP:0000812", + "UPHENO:0086635", + "HP:0000240", + "HP:0000252", + "UPHENO:0086855", + "UPHENO:0081628", + "UPHENO:0075220", + "UPHENO:0080200", + "BFO:0000020", + "UPHENO:0081566", + "HP:0000957", + "UPHENO:0074584", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0082682", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0003020", + "UPHENO:0002725", + "UPHENO:0069523", + "HP:0000125", + "UPHENO:0002910", + "HP:0000568", + "HP:0030962", + "UPHENO:0020041", + "HP:0000271", + "HP:0000478", + "HP:0100887", + "HP:0012252", + "HP:0012647", + "HP:0002090", + "HP:0012649", + "UPHENO:0086908", + "UPHENO:0076812", + "UPHENO:0074685", + "HP:0010978", + "UPHENO:0074589", + "UPHENO:0076684", + "UPHENO:0074804", + "UPHENO:0015329", + "UPHENO:0004536", + "UPHENO:0002827", + "UPHENO:0082723", + "UPHENO:0086700", + "UPHENO:0020748", + "HP:0011994", + "UPHENO:0074722", + "HP:0000707", + "UPHENO:0049748", + "UPHENO:0050021", + "HP:0000009", + "UPHENO:0050845", + "HP:0001939", + "HP:0003221", + "UPHENO:0083648", + "HP:0011017", + "HP:0010936", + "UPHENO:0002806", + "HP:0000069", + "UPHENO:0075852", + "HP:0000014", + "UPHENO:0075933", + "HP:0031073", + "UPHENO:0076765", + "HP:0025015", + "UPHENO:0086797", + "HP:0012130", + "UPHENO:0033603", + "HP:0033353", + "UPHENO:0076729", + "HP:0000830", + "HP:0001643", + "UPHENO:0087339", + "UPHENO:0063629", + "UPHENO:0085195", + "HP:0031071", + "HP:0005528", + ], + "has_phenotype_closure_label": [ + "Placental abruption", + "Abnormal placenta morphology", + "abnormal female reproductive system", + "abnormal amniotic fluid", + "Abnormality of the amniotic fluid", + "Short stature", + "abnormality of anatomical entity height", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "Abnormality of body height", + "abnormal size of multicellular organism", + "abnormal manual digit 2 morphology", + "Abnormal 2nd finger morphology", + "abnormally fused manual digit 2 and manual digit 3", + "Finger syndactyly", + "abnormally fused anatomical entity and manual digit 3", + "Syndactyly", + "abnormally fused digit and anatomical entity", + "2-3 finger syndactyly", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "abnormally fused digit and digit", + "abnormally fused anatomical entity and anatomical entity", + "abnormally fused anatomical entity and digit", + "Renal hypoplasia", + "decreased size of the kidney", + "Fetal ultrasound soft marker", + "abnormal late embryo", + "Single umbilical artery", + "abnormal umbilical cord", + "Abnormality of the umbilical cord", + "Abnormal umbilical cord blood vessel morphology", + "Decreased body weight", + "abnormality of anatomical entity mass", + "Failure to thrive", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "abnormal erythrocyte morphology", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", + "Sacral dimple", + "abnormally decreased number of myeloid cell", + "Abnormal cardiac atrium morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Congenital malformation of the great arteries", + "Abnormal platelet count", + "abnormal sensory perception of sound", + "abnormal platelet morphology", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "Short digit", + "Short thumb", + "Intrauterine growth retardation", + "abnormal vascular system morphology", + "Short finger", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal cardiac atrium morphology", + "abnormal hypothalamus-pituitary axis", + "abnormal cardiac septum morphology", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "abnormally localised anatomical entity", + "Abnormality of the genital system", + "abnormal male reproductive organ morphology", + "Non-obstructive azoospermia", + "Abnormal penis morphology", + "abnormal number of anatomical enitites of type sperm", + "absent sperm", + "abnormally localised anatomical entity in independent continuant", + "absent sperm in the independent continuant", + "decreased spermatogenesis", + "abnormal kidney morphology", + "abnormal male reproductive system", + "decreased qualitatively developmental process", + "abnormal ureter", + "Abnormality of male external genitalia", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "Polyhydramnios", + "abnormal anatomical entity morphology in the pectoral complex", + "Thrombocytopenia", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "Abnormal external genitalia", + "Abnormal myeloid cell morphology", + "abnormal interatrial septum morphology", + "Abnormal ear physiology", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal postcranial axial skeleton morphology", + "abnormal diencephalon", + "abnormal incomplete closing of the interatrial septum", + "penis hypoplasia", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "decreased growth hormone secretion", + "abnormally fused manual digit and anatomical entity", + "Abnormality of head or neck", + "abnormality of anatomical entity physiology", + "abnormally fused manual digit and manual digit", + "anatomical entity atresia", + "abnormal cell", + "Abnormal testis morphology", + "abnormal reproductive process", + "abnormal multicellular organismal reproductive process", + "abnormal internal genitalia", + "abnormal gamete generation", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal artery morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal incomplete closing of the ductus arteriosus", + "decreased length of anatomical entity in independent continuant", + "changed biological_process rate in independent continuant", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "abnormal lung morphology", + "decreased length of forelimb zeugopod bone", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal male reproductive system physiology", + "decreased length of anatomical entity", + "abnormally decreased number of cell", + "Aplasia/hypoplasia involving forearm bones", + "Forearm undergrowth", + "abnormal growth hormone secretion", + "Abnormality of the vasculature", + "Absent thumb", + "abnormal ear", + "abnormal blood cell", + "aplasia or hypoplasia of manual digit", + "absent anatomical entity in the multicellular organism", + "decreased sensory perception of sound", + "abnormality of middle ear physiology", + "Abnormality of limb bone", + "Abnormal small intestine morphology", + "Abnormal fetal morphology", + "abnormal intestine morphology", + "Abnormal cerebral morphology", + "abnormal blood vessel morphology", + "Abnormal vascular morphology", + "abnormal arm", + "Abnormal digit morphology", + "decreased qualitatively reproductive process", + "abnormal localization", + "Language impairment", + "Anemia", + "Abnormality of the hand", + "decreased size of the external ear", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + "Microtia", + "Azoospermia", + "Aplasia/Hypoplasia of the ear", + "continuant", + "abnormal manus", + "aplasia or hypoplasia of ear", + "abnormal sensory perception", + "Abnormal fetal cardiovascular morphology", + "Cryptorchidism", + "abnormal artery morphology in the independent continuant", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "aplasia or hypoplasia of manual digit 1", + "entity", + "abnormal testis morphology", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "abnormal reproductive system morphology", + "changed biological_process rate in brain", + "abnormal blood cell morphology", + "Abnormality of the skin", + "abnormal duodenum morphology", + "abnormal anatomical entity morphology in the heart", + "abnormal external genitalia", + "Abnormal renal morphology", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "bone element hypoplasia in independent continuant", + "abnormally decreased number of anatomical entity in the blood", + "Abnormal erythroid lineage cell morphology", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "decreased length of manual digit 1", + "Aplasia/hypoplasia of the extremities", + "Atrial septal defect", + "abnormal spermatogenesis", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "Abnormal spermatogenesis", + "Abnormal morphology of the great vessels", + "decreased length of long bone", + "abnormal anatomical entity morphology in the independent continuant", + "absent manual digit", + "abnormal phenotype by ontology source", + "alimentary part of gastrointestinal system atresia", + "Morphological abnormality of the gastrointestinal tract", + "abnormal gland morphology", + "abnormal immune system morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "abnormal cardiac atrium morphology in the heart", + "delayed growth", + "Abnormality of the integument", + "absent germ cell", + "Abnormal response to endocrine stimulation test", + "Abnormality of bone marrow cell morphology", + "Short forearm", + "delayed biological_process", + "Pneumonia", + "Abnormal cardiac septum morphology", + "abnormal transport", + "Hypoplasia of the radius", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "abnormal skeletal system morphology", + "abnormal biological_process in central nervous system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "abnormal small intestine", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "abnormal penis", + "abnormality of ureter physiology", + "abnormal penis morphology", + "decreased length of manual digit", + "abnormal developmental process", + "abnormal hormone independent continuant level", + "decreased biological_process in independent continuant", + "absent anatomical entity", + "Abnormality of reproductive system physiology", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "Abnormality of the endocrine system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormally decreased number of anatomical entity", + "Abnormal upper limb bone morphology", + "All", + "increased qualitatively biological_process", + "decreased developmental process", + "abnormal response to stress", + "agenesis of anatomical entity", + "Skin dimple", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "abnormal ductus arteriosus morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal face morphology", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "aplastic anatomical entity", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of limbs", + "Hypopituitarism", + "Delayed speech and language development", + "Hypoplasia of penis", + "Abnormality of limb bone morphology", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "absent gamete", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Abnormal appendicular skeleton morphology", + "abnormal limb", + "abnormally fused manual digit 2 and anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal ear morphology", + "anatomical entity hypoplasia", + "Abnormality of the ureter", + "abnormal cardiac atrium morphology in the independent continuant", + "abnormal manus morphology", + "changed embryo development rate", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal digit", + "Abnormal thumb morphology", + "abnormal development of anatomical entity", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "abnormal external ear morphology", + "Microphthalmia", + "Fetal anomaly", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "radius bone hypoplasia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "Abnormal axial skeleton morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "abnormality of immune system physiology", + "abnormal vertebral column", + "Abnormality of the vertebral column", + "abnormal location of anatomical entity", + "Gastrointestinal atresia", + "Macule", + "abnormal fused sacrum morphology", + "abnormal role bodily fluid level", + "aplasia or hypoplasia of external ear", + "abnormal integument", + "Sacrococcygeal pilonidal abnormality", + "intestine atresia", + "Abnormal endocrine physiology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal forelimb zeugopod bone", + "duodenum atresia", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal male reproductive system morphology", + "phenotype", + "abnormal placenta", + "Abnormal cell morphology", + "Hypoplastic male external genitalia", + "Abnormality of the gastrointestinal tract", + "Aplasia/Hypoplasia of the radius", + "abnormal digestive system", + "decreased growth", + "increased qualitatively inflammatory response", + "Abnormal duodenum morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "Abnormal atrial septum morphology", + "abnormal heart morphology", + "aplasia or hypoplasia of radius bone", + "abnormal long bone morphology", + "abnormal opening of the anatomical entity", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "Decreased anatomical entity mass", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "Duodenal atresia", + "forelimb zeugopod bone hypoplasia", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "abnormally decreased number of leukocyte", + "Abnormality of the ear", + "Abnormal pituitary gland morphology", + "Intestinal atresia", + "abnormal radius bone morphology", + "Aplasia/Hypoplasia of the external ear", + "decreased size of the anatomical entity in the independent continuant", + "abnormal renal system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal central nervous system morphology", + "Abnormality of chromosome stability", + "Limb undergrowth", + "abnormal upper urinary tract", + "Abnormality of the eye", + "abnormality of male reproductive system physiology", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "abnormal renal system", + "Ectopic kidney", + "Abnormality of the lower urinary tract", + "Abnormal localization of kidney", + "abnormal adenohypophysis", + "Growth abnormality", + "abnormal orbital region", + "Abnormality of the kidney", + "decreased biological_process in pituitary gland", + "abnormal eyeball of camera-type eye", + "Abnormality of the upper urinary tract", + "Pelvic kidney", + "abnormality of nervous system physiology", + "Abnormal cellular physiology", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Hearing abnormality", + "abnormal anatomical entity morphology in the manus", + "abnormal role blood level", + "Conductive hearing impairment", + "abnormal middle ear", + "abnormal genitourinary system", + "changed developmental process rate", + "abnormal vasculature", + "abnormal head morphology", + "decreased vibrational conductance of sound to the inner ear", + "Abnormal forebrain morphology", + "Functional abnormality of the middle ear", + "abnormal head", + "absent anatomical entity in the forelimb", + "abnormality of ear physiology", + "abnormal ear morphology", + "abnormal endocrine system", + "absent digit", + "Respiratory tract infection", + "Neoplasm", + "Abnormal intestine morphology", + "decreased qualitatively biological_process in independent continuant", + "abnormal endocrine system morphology", + "Abnormality of the respiratory system", + "Aplasia/Hypoplasia of the thumb", + "decreased secretion in pituitary gland", + "abnormal secretion in independent continuant", + "abnormal nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal forebrain morphology", + "abnormality of reproductive system physiology", + "Abnormal heart morphology", + "Abnormality of the bladder", + "abnormal multicellular organism chemical entity level", + "abnormal pituitary gland morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal cellular process", + "Abnormal communication", + "Abnormality of brain morphology", + "abnormal bone of pectoral complex morphology", + "decreased qualitatively biological_process in central nervous system", + "decreased secretion in independent continuant", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "Abnormal endocrine morphology", + "decreased biological_process in brain", + "abnormal secretion by cell", + "abnormality of endocrine system physiology", + "Decreased response to growth hormone stimulation test", + "increased inflammatory response in lung", + "Abnormality of the diencephalon", + "abnormal behavior", + "abnormal independent continuant chemical entity level", + "Abnormality of metabolism/homeostasis", + "abnormal chemical entity level", + "abnormal inflammatory response", + "Abnormal circulating hormone concentration", + "abnormal hormone blood level", + "Abnormalities of placenta or umbilical cord", + "abnormal size of skull", + "Anterior hypopituitarism", + "decreased size of the penis", + "abnormal role independent continuant level", + "decreased size of the anatomical entity", + "Specific learning disability", + "abnormal biological_process in independent continuant", + "Abnormality of the anterior pituitary", + "quality", + "decreased biological_process in multicellular organism", + "abnormal diencephalon morphology", + "Abnormal growth hormone level", + "decreased qualitatively growth", + "abnormally decreased number of hematopoietic cell", + "Abnormal inflammatory response", + "abnormal neuroendocrine gland morphology", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "abnormal umbilical blood vessel morphology", + "decreased embryo development", + "abnormal biological_process", + "Growth delay", + "abnormal growth", + "abnormally fused anatomical entity and manual digit", + "abnormal leukocyte morphology", + "increased biological_process", + "abnormal external ear", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "external ear hypoplasia", + "Abnormal eye morphology", + "abnormal gamete", + "Abnormality of the outer ear", + "abnormal great vessel of heart morphology", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal behavior process", + "abnormal skin of body", + "Neurodevelopmental delay", + "Atypical behavior", + "abnormal closing of the anatomical entity", + "abnormal response to stimulus", + "Short long bone", + "abnormal skull morphology", + "Neurodevelopmental abnormality", + "Abnormality of speech or vocalization", + "abnormally decreased number of leukocyte in the blood", + "Abnormal leukocyte count", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal immune system", + "Leukopenia", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "Renal hypoplasia/aplasia", + "abnormal size of kidney", + "abnormal lower urinary tract", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "abnormally decreased number of cell in the independent continuant", + "Decreased head circumference", + "abnormal telencephalon morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "abnormal urinary bladder", + "Abnormal skull morphology", + "Aplasia/Hypoplasia of the cerebrum", + "aplasia or hypoplasia of eyeball of camera-type eye", + "increased pigmentation in independent continuant", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the external male genitalia", + "Abnormal ureter physiology", + "increased qualitatively biological_process in independent continuant", + "Cafe-au-lait spot", + "Abnormality of skin pigmentation", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "increased pigmentation", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Hyperpigmentation of the skin", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "Abnormality of the orbital region", + "Abnormality of the face", + "increased inflammatory response in independent continuant", + "Abnormality of the middle ear", + "abnormality of urinary bladder physiology", + "Abnormality of immune system physiology", + "Abnormal lung morphology", + "Abnormality of prenatal development or birth", + "increased inflammatory response", + "increased qualitatively response to stimulus", + "abnormal autopod region morphology", + "increased qualitatively inflammatory response in independent continuant", + "Increased inflammatory response", + "abnormal primary metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "abnormal metabolic process", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "increased biological_process in lung", + "abnormal programmed DNA elimination by chromosome breakage", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal respiratory system morphology", + "abnormal organelle organization", + "abnormal nitrogen compound metabolic process", + "Functional abnormality of the bladder", + "abnormal anatomical entity length", + "Vesicoureteral reflux", + "Abnormal pinna morphology", + "Patent ductus arteriosus", + "Abnormal blood vessel morphology", + "abnormal systemic artery morphology", + "abnormal bone marrow cell morphology", + "Bone marrow hypocellularity", + "external male genitalia hypoplasia", + "abnormal shape of continuant", + "abnormal bone marrow cell", + "abnormal embryo development", + "Microphallus", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "External genital hypoplasia", + ], + "has_phenotype_count": 34, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013566", + "category": "biolink:Disease", + "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 FANCL gene.", + "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCL", + "FANCL Fanconi anaemia", + "FANCL Fanconi anemia", + "Fanconi Anemia, complementation Group 50", + "Fanconi Anemia, complementation group type 50", + "Fanconi anaemia caused by mutation in FANCL", + "Fanconi anaemia complementation group type L", + "Fanconi anemia caused by mutation in FANCL", + "Fanconi anemia complementation group L", + "Fanconi anemia complementation group type L", + "Fanconi anemia, complementation group L", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0040012", + "HP:0007018", + "HP:0000582", + "HP:0008551", + "HP:0000470", + "HP:0009777", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000316", + "HP:0001510", + "HP:0001776", + "HP:0000347", + "HP:0003974", + "HP:0001511", + "HP:0009892", + "HP:0000151", + "HP:0001263", + "HP:0003221", + "HP:0002032", + "HP:0011968", + "HP:0001321", + "HP:0000175", + "HP:0000054", + "HP:0000437", + "HP:0001903", + "HP:0000122", + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Attention deficit hyperactivity disorder", + "Upslanted palpebral fissure", + "Microtia", + "Short neck", + "Absent thumb", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Hypertelorism", + "Growth delay", + "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": [ + "HP:0000089", + "UPHENO:0087355", + "UPHENO:0085195", + "UPHENO:0002948", + "UPHENO:0087278", + "HP:0000422", + "HP:0000431", + "UPHENO:0081800", + "HP:0000568", + "HP:0008056", + "UPHENO:0075219", + "UPHENO:0069523", + "UPHENO:0000552", + "UPHENO:0050372", + "HP:0012447", + "UPHENO:0050406", + "HP:0002715", + "HP:0002188", + "UPHENO:0062527", + "HP:0012448", + "UPHENO:0084007", + "UPHENO:0008593", + "HP:0000079", + "HP:0012210", + "HP:0010935", + "HP:0012130", + "UPHENO:0084928", + "HP:0001871", + "HP:0001877", + "HP:0001903", + "UPHENO:0041458", + "HP:0000366", + "HP:0000436", + "UPHENO:0088168", + "UPHENO:0082467", + "UPHENO:0002597", + "HP:0000054", + "HP:0003241", + "HP:0008736", + "UPHENO:0000553", + "UPHENO:0068843", + "UPHENO:0081095", + "HP:0000036", + "HP:5201015", + "HP:0000202", + "HP:0000174", + "UPHENO:0006147", + "UPHENO:0087585", + "UPHENO:0033572", + "UPHENO:0080089", + "HP:0001321", + "UPHENO:0068984", + "UPHENO:0087548", + "UPHENO:0033635", + "HP:0002977", + "UPHENO:0081601", + "HP:0001317", + "UPHENO:0081099", + "HP:0011458", + "HP:0011968", + "HP:0000811", + "HP:0025032", + "UPHENO:0063639", + "HP:0002589", + "UPHENO:0063603", + "HP:0003221", + "HP:0000078", + "UPHENO:0003055", + "HP:0010460", + "HP:0000151", + "UPHENO:0002598", + "UPHENO:0087974", + "UPHENO:0020950", + "UPHENO:0009305", + "UPHENO:0087339", + "UPHENO:0026954", + "UPHENO:0026984", + "UPHENO:0025708", + "HP:0008678", + "UPHENO:0052178", + "HP:0012145", + "UPHENO:0080393", + "UPHENO:0075902", + "UPHENO:0081436", + "UPHENO:0085144", + "HP:0000309", + "UPHENO:0050108", + "UPHENO:0005642", + "UPHENO:0080382", + "UPHENO:0052778", + "HP:0000437", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "UPHENO:0076718", + "HP:0002973", + "UPHENO:0025211", + "HP:0012758", + "UPHENO:0009399", + "HP:0040072", + "HP:0040070", + "UPHENO:0080187", + "HP:0003953", + "UPHENO:0025945", + "UPHENO:0020013", + "HP:0006503", + "HP:0009825", + "UPHENO:0081511", + "UPHENO:0050034", + "UPHENO:0009341", + "UPHENO:0087501", + "UPHENO:0075182", + "UPHENO:0082454", + "UPHENO:0081566", + "UPHENO:0083646", + "HP:0009118", + "HP:0011821", + "HP:0000277", + "UPHENO:0080158", + "UPHENO:0081786", + "HP:0010461", + "UPHENO:0003053", + "HP:0000929", + "HP:0031816", + "UPHENO:0081314", + "UPHENO:0076800", + "UPHENO:0087123", + "UPHENO:0081788", + "UPHENO:0080087", + "UPHENO:0086932", + "UPHENO:0088116", + "UPHENO:0002443", + "UPHENO:0069249", + "UPHENO:0081575", + "HP:0001762", + "HP:0020047", + "HP:0005656", + "UPHENO:0041203", + "HP:0002814", + "HP:0001776", + "UPHENO:0003070", + "UPHENO:0086628", + "UPHENO:0049874", + "HP:0001510", + "HP:0001507", + "HP:0100886", + "UPHENO:0002595", + "UPHENO:0021474", + "HP:0000478", + "UPHENO:0065599", + "UPHENO:0026628", + "HP:0012372", + "UPHENO:0001072", + "UPHENO:0081141", + "UPHENO:0003020", + "UPHENO:0075655", + "HP:0009116", + "HP:0000316", + "HP:0009892", + "UPHENO:0074228", + "UPHENO:0086644", + "UPHENO:0062515", + "HP:0004378", + "UPHENO:0076786", + "HP:0002818", + "HP:0002023", + "UPHENO:0081320", + "UPHENO:0063599", + "UPHENO:0063565", + "HP:0000122", + "UPHENO:0002839", + "HP:0034915", + "HP:0011297", + "UPHENO:0087472", + "HP:0000369", + "UPHENO:0050116", + "UPHENO:0049367", + "UPHENO:0082356", + "UPHENO:0084761", + "HP:0011121", + "UPHENO:0021517", + "UPHENO:0087950", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0002813", + "HP:0002032", + "HP:0003974", + "UPHENO:0076703", + "UPHENO:0046505", + "UPHENO:0076724", + "HP:0000924", + "HP:0001155", + "HP:0000032", + "UPHENO:0022529", + "HP:0000465", + "UPHENO:0002903", + "HP:0002575", + "UPHENO:0026506", + "UPHENO:0041226", + "HP:0011355", + "UPHENO:0081091", + "UPHENO:0081790", + "UPHENO:0049586", + "UPHENO:0087806", + "UPHENO:0074584", + "UPHENO:0026181", + "UPHENO:0080165", + "HP:0002921", + "UPHENO:0081210", + "HP:0001883", + "UPHENO:0087563", + "HP:0100887", + "UPHENO:0005170", + "UPHENO:0003074", + "UPHENO:0068971", + "HP:0012759", + "UPHENO:0080111", + "UPHENO:0075195", + "HP:0011793", + "UPHENO:0069196", + "UPHENO:0049990", + "UPHENO:0082682", + "HP:0005105", + "UPHENO:0000541", + "UPHENO:0076785", + "HP:0000752", + "UPHENO:0005597", + "UPHENO:0081792", + "UPHENO:0087478", + "UPHENO:0086595", + "HP:0000492", + "UPHENO:0001002", + "UPHENO:0087924", + "UPHENO:0020584", + "HP:0002813", + "HP:0000271", + "HP:0011283", + "UPHENO:0075997", + "UPHENO:0082129", + "HP:0008050", + "UPHENO:0005016", + "HP:0000119", + "UPHENO:0026128", + "HP:0000152", + "HP:0000315", + "UPHENO:0005986", + "HP:0001574", + "UPHENO:0021304", + "HP:0032039", + "UPHENO:0041041", + "UPHENO:0087006", + "UPHENO:0085118", + "UPHENO:0080196", + "HP:0000001", + "HP:0007400", + "HP:0008772", + "HP:0001939", + "UPHENO:0031839", + "UPHENO:0001003", + "HP:0000153", + "HP:0006265", + "UPHENO:0084012", + "UPHENO:0041098", + "UPHENO:0003085", + "UPHENO:0087089", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0050845", + "HP:0011282", + "UPHENO:0074589", + "HP:0012638", + "UPHENO:0041080", + "UPHENO:0001005", + "UPHENO:0003058", + "HP:0000925", + "HP:5200044", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "HP:0003220", + "UPHENO:0012541", + "UPHENO:0080585", + "UPHENO:0069110", + "UPHENO:0086699", + "UPHENO:0086700", + "HP:0011017", + "HP:0006501", + "UPHENO:0087907", + "HP:0012252", + "UPHENO:0084457", + "UPHENO:0002828", + "HP:0000951", + "HP:0030791", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0088170", + "UPHENO:0087547", + "UPHENO:0001001", + "HP:0000470", + "HP:0200006", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0000812", + "HP:0002778", + "HP:0007018", + "UPHENO:0050021", + "HP:0000598", + "BFO:0000001", + "UPHENO:0002910", + "UPHENO:0049748", + "UPHENO:0055730", + "UPHENO:0076723", + "UPHENO:0080171", + "HP:0000582", + "HP:0001263", + "UPHENO:0009396", + "HP:0008517", + "HP:0005561", + "UPHENO:0083952", + "UPHENO:0049873", + "UPHENO:0002934", + "UPHENO:0004536", + "HP:0009122", + "UPHENO:0004523", + "UPHENO:0046571", + "HP:0001172", + "HP:0000118", + "HP:0011446", + "UPHENO:0087374", + "UPHENO:0076752", + "HP:0001760", + "UPHENO:0072195", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0000104", + "UPHENO:0050113", + "HP:0000008", + "UPHENO:0015280", + "UPHENO:0004459", + "UPHENO:0054957", + "UPHENO:0061854", + "HP:0008684", + "HP:0009777", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0031703", + "HP:0008771", + "UPHENO:0002764", + "HP:0025354", + "BFO:0000002", + "HP:0000736", + "HP:0012639", + "UPHENO:0076720", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0087846", + "UPHENO:0056237", + "UPHENO:0049622", + "HP:0000464", + "HP:0011400", + "HP:0000175", + "UPHENO:0081783", + "UPHENO:0086824", + "UPHENO:0086172", + "HP:0000707", + "HP:0002817", + "HP:0000163", + "UPHENO:0002433", + "HP:0009121", + "UPHENO:0081435", + "UPHENO:0021791", + "UPHENO:0080662", + "UPHENO:0087510", + "UPHENO:0018424", + "HP:0000357", + "HP:5200045", + "UPHENO:0080110", + "HP:0005528", + "UPHENO:0076761", + "UPHENO:0020659", + "UPHENO:0002896", + "UPHENO:0080300", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0003811", + "UPHENO:0081598", + "UPHENO:0002880", + "UPHENO:0002830", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0083951", + "UPHENO:0026023", + "HP:0012733", + "HP:0010938", + "UPHENO:0087643", + "UPHENO:0072194", + "UPHENO:0075878", + "HP:0006496", + "HP:0000356", + "UPHENO:0014240", + "HP:0002031", + "UPHENO:0084448", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0076740", + "UPHENO:0076760", + "HP:0011024", + "UPHENO:0018414", + "UPHENO:0084763", + "UPHENO:0076779", + "UPHENO:0088185", + "UPHENO:0011498", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0087816", + "UPHENO:0086633", + "HP:0045060", + "UPHENO:0006910", + "HP:0040064", + "HP:0001167", + "HP:0003319", + "HP:0009601", + "PATO:0000001", + "UPHENO:0026028", + "UPHENO:0080126", + "UPHENO:0084766", + "HP:0008551", + "HP:0005922", + "UPHENO:0008668", + "UPHENO:0079826", + "UPHENO:0018390", + "UPHENO:0088186", + "UPHENO:0002901", + "HP:0009815", + "UPHENO:0049700", + "HP:0005927", + "UPHENO:0081585", + "UPHENO:0076727", + "UPHENO:0081119", + "UPHENO:0018426", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0002833", + "UPHENO:0079876", + "UPHENO:0076695", + "UPHENO:0054970", + "UPHENO:0081328", + "HP:0034261", + "HP:0005107", + "UPHENO:0069391", + "HP:0008518", + "HP:0025461", + "UPHENO:0076805", + "HP:0030669", + "HP:0004590", + "HP:0025033", + "UPHENO:0088162", + "HP:0000953", + "HP:0012243", + "HP:0005607", + "UPHENO:0087433", + "UPHENO:0002725", + "HP:0000050", + "UPHENO:0076735", + "UPHENO:0088047", + "HP:0012718", + "UPHENO:0002635", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0026980", + "UPHENO:0056212", + "HP:0000130", + "UPHENO:0020748", + "HP:0000347", + "HP:0025031", + "HP:0000377", + "UPHENO:0076803", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "HP:0009380", + "HP:0002086", + "UPHENO:0060026", + "HP:0007360", + "UPHENO:0076766", + "UPHENO:0076702", + "HP:0012443", + "UPHENO:0006161", + "HP:0002118", + "UPHENO:0087430", + "UPHENO:0056333", + "HP:0001511", + "UPHENO:0000543", + "UPHENO:0081784", + "HP:0009823", + "HP:0000957", + "HP:0001034", + "UPHENO:0002907", + "HP:0002011", + "UPHENO:0074575", + "HP:0002692", + "UPHENO:0076730", + "UPHENO:0050121", + "UPHENO:0074572", + "UPHENO:0008523", + "UPHENO:0050008", + "UPHENO:0025875", + "UPHENO:0080377", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0080221", + "UPHENO:0025100", + "HP:0025668", + "UPHENO:0076739", + ], + "has_phenotype_closure_label": [ + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of the immune system", + "abnormal immune system", + "abnormal bone marrow cell morphology", + "increased width of the anatomical entity in independent continuant", + "increased width of anatomical entity", + "Abnormal nasal bridge morphology", + "abnormal size of eyeball of camera-type eye", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal myelination", + "delayed central nervous system myelination", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "delayed biological_process in independent continuant", + "Renal hypoplasia/aplasia", + "absent kidney", + "abnormal renal system", + "absent kidney in the independent continuant", + "Unilateral renal agenesis", + "abnormal renal system morphology", + "Abnormality of blood and blood-forming tissues", + "abnormal bone marrow cell", + "Anemia", + "Abnormal myeloid cell morphology", + "Renal agenesis", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "abnormal external nose morphology", + "abnormal myelination", + "abnormal erythrocyte morphology", + "Depressed nasal tip", + "abnormal nose", + "Abnormal nasal tip morphology", + "abnormal nose morphology", + "Abnormality of male external genitalia", + "abnormal external male genitalia", + "abnormal male reproductive organ morphology", + "decreased size of the penis", + "abnormal male reproductive system", + "penis hypoplasia", + "Abnormality of globe size", + "Abnormal penis morphology", + "Abnormal external genitalia", + "Micropenis", + "abnormal male reproductive system morphology", + "abnormal external male genitalia morphology", + "Bone marrow hypocellularity", + "external male genitalia hypoplasia", + "External genital hypoplasia", + "Abnormal palate morphology", + "abnormal midface morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal incomplete closing of the secondary palate", + "Craniofacial cleft", + "abnormal oral cavity morphology", + "abnormal opening of the anatomical entity", + "abnormal cerebellum morphology", + "Abnormality of the male genitalia", + "decreased size of the cerebellum", + "Abnormal hindbrain morphology", + "Aplasia/Hypoplasia of the cerebellum", + "abnormal anatomical entity morphology in the brain", + "Abnormal cerebellum morphology", + "abnormality of digestive system physiology", + "Abnormality of digestive system physiology", + "Wide nasal bridge", + "Abdominal symptom", + "alimentary part of gastrointestinal system atresia", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "Abnormality of the uterus", + "aplasia or hypoplasia of uterus", + "Abnormality of the genital system", + "abnormal female reproductive organ morphology", + "abnormal internal female genitalia morphology", + "Aplasia of the uterus", + "Abnormality of the genitourinary system", + "Abnormal morphology of female internal genitalia", + "abnormal female reproductive system", + "Aplasia/hypoplasia of the uterus", + "absent anatomical entity in the reproductive system", + "abnormal female reproductive system morphology", + "absent uterus", + "absent external ear in the independent continuant", + "Anotia", + "decreased developmental process", + "abnormal developmental process", + "decreased embryo development", + "aplasia or hypoplasia of cerebellum", + "changed developmental process rate", + "Abnormal upper limb bone morphology", + "Abnormal erythrocyte morphology", + "aplasia or hypoplasia of radius bone", + "abnormal nose tip morphology", + "Aplasia/hypoplasia involving forearm bones", + "abnormal long bone morphology", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "absent anatomical entity in the skeletal system", + "Abnormal morphology of the radius", + "absent radius bone in the forelimb", + "Global developmental delay", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the radius", + "Absent radius", + "Aplasia/Hypoplasia involving bones of the skull", + "aplasia or hypoplasia of mandible", + "shape nose tip", + "anatomical entity hypoplasia in face", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal axon ensheathment in central nervous system in independent continuant", + "Abnormal jaw morphology", + "bone element hypoplasia in face", + "cerebellum hypoplasia", + "Abnormal skull morphology", + "Abnormality of the mouth", + "abnormal embryo development", + "abnormal mouth morphology", + "abnormal jaw skeleton morphology", + "abnormal head bone morphology", + "abnormal facial skeleton morphology", + "abnormal genitourinary system", + "Abnormal foot morphology", + "Bilateral talipes equinovarus", + "Talipes equinovarus", + "Abnormality of the lower limb", + "delayed growth", + "abnormal growth", + "delayed biological_process", + "Growth delay", + "increased anatomical entity length in independent continuant", + "absent external ear", + "abnormal location of eyeball of camera-type eye", + "Abnormality of the urinary system", + "increased length of the anatomical entity", + "abnormal nasal bridge morphology", + "Hypertelorism", + "abnormal upper urinary tract", + "curvature anatomical entity", + "abnormal pes morphology", + "Abnormality of the eye", + "Abnormality of the kidney", + "abnormal eyeball of camera-type eye", + "Esophageal atresia", + "increased size of the anatomical entity in independent continuant", + "absent anatomical entity", + "aplasia or hypoplasia of anatomical entity", + "curvature anatomical entity in independent continuant", + "decreased qualitatively developmental process", + "abnormal external ear morphology", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of the mandible", + "Aplasia/hypoplasia involving bones of the extremities", + "agenesis of anatomical entity", + "abnormal digit morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal neck morphology", + "Aplasia/Hypoplasia of the ear", + "abnormal forelimb morphology", + "Abnormality of the musculoskeletal system", + "Cafe-au-lait spot", + "Orofacial cleft", + "Morphological abnormality of the gastrointestinal tract", + "aplasia or hypoplasia of manual digit 1", + "abnormal vertebral column", + "fused sacrum hypoplasia", + "abnormal axial skeleton plus cranial skeleton morphology", + "aplastic forelimb zeugopod bone", + "aplasia or hypoplasia of fused sacrum", + "decreased size of the anatomical entity", + "Abnormal midface morphology", + "Abnormal mandible morphology", + "absent anatomical entity in the limb", + "aplasia or hypoplasia of ear", + "Microphthalmia", + "Abnormal neck morphology", + "abnormal skeletal system", + "Abnormal pinna morphology", + "abnormal hindlimb morphology", + "increased pigmentation in skin of body", + "Abnormality of the ear", + "changed embryo development rate", + "Intrauterine growth retardation", + "abnormal manual digit 1 morphology", + "abnormal fused sacrum morphology", + "Abnormal axial skeleton morphology", + "Abnormal facial skeleton morphology", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "abnormal skull morphology", + "abnormal response to stimulus", + "abnormal manual digit morphology in the independent continuant", + "decreased size of the kidney", + "Abnormal eye morphology", + "external ear hypoplasia", + "Hypoplastic sacrum", + "Abnormality of the respiratory system", + "shape anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "esophagus atresia", + "absent radius bone", + "anatomical entity hypoplasia", + "flattened anatomical entity in independent continuant", + "abnormal palpebral fissure", + "absent anatomical entity in the head", + "decreased biological_process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia of the extremities", + "abnormal external ear", + "Talipes", + "abnormal cerebrospinal fluid morphology", + "decreased length of anatomical entity", + "abnormal radius bone morphology", + "Aplasia/Hypoplasia of the external ear", + "Abnormality of the face", + "Abnormal anus morphology", + "abnormal erythroid lineage cell morphology", + "abnormal shape of continuant", + "Growth abnormality", + "abnormal orbital region", + "flat nose tip", + "Micrognathia", + "Abnormality of the skeletal system", + "Abnormality of the ocular adnexa", + "Abnormality of mental function", + "abnormal chromatin organization", + "Chromosome breakage", + "kidney hypoplasia", + "Finger aplasia", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "quality", + "abnormal nitrogen compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormal cell morphology", + "Hypoplastic male external genitalia", + "phenotype", + "absent external ear in the head", + "decreased length of neck", + "abnormal central nervous system myelination in independent continuant", + "abnormal internal genitalia", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "decreased size of the external male genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Abnormality of the palpebral fissures", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal snout morphology", + "abnormal face", + "abnormal metabolic process", + "Abnormal forearm morphology", + "decreased size of the mandible", + "abnormal anatomical entity", + "Abnormality of the outer ear", + "continuant", + "abnormal craniocervical region morphology", + "abnormal leg", + "Attention deficit hyperactivity disorder", + "abnormal digestive system", + "abnormal integument", + "Morphological central nervous system abnormality", + "abnormal behavior process", + "Abnormality of the nose", + "abnormal brain ventricle morphology", + "abnormal neck", + "Atypical behavior", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormality of limb bone morphology", + "Hypoplasia of penis", + "Abnormality of limbs", + "abnormal mandible morphology", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the head", + "abnormal anus", + "Abnormality of the female genitalia", + "abnormal primary metabolic process", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "abnormal organelle organization", + "Abnormal CNS myelination", + "abnormal development of anatomical entity", + "abnormal digit", + "Positional foot deformity", + "Abnormal cerebral ventricle morphology", + "abnormal cellular process", + "abnormal biological_process in central nervous system", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Slanting of the palpebral fissure", + "increased width of nasal bridge", + "Abnormal tracheobronchial morphology", + "abnormal biological_process", + "aplasia or hypoplasia of external ear", + "abnormal cell", + "abnormal limb morphology", + "abnormal reproductive system", + "Abnormality of head or neck", + "entity", + "abnormal anatomical entity morphology in the appendage girdle complex", + "absent radius bone in the independent continuant", + "Upslanted palpebral fissure", + "Abnormal cellular phenotype", + "Irregular hyperpigmentation", + "Hydrocephalus", + "abnormal behavior", + "Abnormality of digestive system morphology", + "abnormal limb", + "mandible hypoplasia", + "Microtia", + "phenotype by ontology source", + "Abnormal thumb morphology", + "abnormal size of kidney", + "Abnormal eyelid morphology", + "abnormal head", + "abnormally increased number of anatomical entity in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormal face morphology", + "abnormal digestive system morphology", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal nervous system", + "Neoplasm", + "Anal atresia", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal hematopoietic system morphology", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal nervous system physiology", + "Feeding difficulties", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal esophagus morphology", + "Abnormal internal genitalia", + "abnormal eyelid morphology", + "Abnormality of the nervous system", + "delayed biological_process in central nervous system", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", + "Absent forearm bone", + "abnormal ocular adnexa morphology", + "flattened anatomical entity", + "Aplasia involving forearm bones", + "Abnormality of globe location", + "Abnormality of skin pigmentation", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "Abnormality of the orbital region", + "absent anatomical entity in the multicellular organism", + "decreased size of the eyeball of camera-type eye", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "aplasia or hypoplasia of vertebral column", + "flat anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "abnormal penis morphology", + "abnormal roof of mouth morphology", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "abnormal cervical vertebra", + "aplastic manual digit 1", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal digit morphology", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "abnormal bone of pectoral complex morphology", + "abnormal cellular metabolic process", + "abnormal respiratory system", + "Abnormality of limb bone", + "flat anatomical entity in independent continuant", + "absent anatomical entity in the forelimb", + "abnormal arm", + "absent anatomical entity in the renal system", + "Abnormality of the upper limb", + "Abnormal nasal morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal erythroid lineage cell morphology", + "bone element hypoplasia in independent continuant", + "Delayed CNS myelination", + "Hyperactivity", + "aplasia or hypoplasia of manual digit", + "abnormal appendicular skeleton morphology", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormal trachea morphology", + "shape anatomical entity", + "Abnormal respiratory system morphology", + "Aplasia/Hypoplasia of facial bones", + "decreased size of the external ear", + "Abnormality of the hand", + "Aplasia/Hypoplasia of the thumb", + "absent anatomical entity in the ear", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "abnormal mouth", + "Abnormal ear morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal manus morphology", + "abnormal secondary palate morphology", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "Cerebellar hypoplasia", + "Abnormal metencephalon morphology", + "Aplasia/Hypoplasia of the sacrum", + "Abnormal sacrum morphology", + "Abnormality of the neck", + "abnormal vertebral column morphology", + "Abnormal external nose morphology", + "Aplasia/Hypoplasia involving the vertebral column", + "Low-set ears", + "Tracheoesophageal fistula", + "abnormally increased number of anatomical entity", + "abnormal respiratory system morphology", + "increased length of the anatomical line between pupils", + "Abnormality of the digestive system", + "Abnormal esophagus morphology", + "abnormal myelination in independent continuant", + "Aplasia involving bones of the extremities", + "All", + "increased qualitatively biological_process", + "aplasia or hypoplasia of skull", + "abnormal skin of body morphology", + "Abnormal tracheal morphology", + "absent forelimb zeugopod bone", + "abnormal respiratory tube morphology", + "delayed myelination", + "Chromosomal breakage induced by crosslinking agents", + "abnormal tracheobronchial tree morphology", + "abnormal biological_process in nervous system", + "abnormal alimentary part of gastrointestinal system", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "increased size of the anatomical entity", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Delayed myelination", + "abnormal brain morphology", + "Abnormality of brain morphology", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal central nervous system myelination", + "abnormal closing of the anatomical entity", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal cerebrospinal fluid morphology", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "abnormal ocular adnexa", + "abnormal location of ear", + "Decreased external ear position", + "abnormal anatomical entity topology in independent continuant", + "Reduced impulse control", + "Short attention span", + "abnormal location of external ear", + "Abnormal location of ears", + "abnormal ear morphology", + "Decreased anatomical entity position", + "Abnormality of the gastrointestinal tract", + "Webbed neck", + "Gastrointestinal atresia", + "Abnormality of the vertebral column", + "Macule", + "Abnormal oral morphology", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "Renal hypoplasia", + "increased qualitatively biological_process in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Cleft palate", + "Abnormal hand morphology", + "Localized skin lesion", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Aplasia/hypoplasia involving bones of the upper limbs", + "increased biological_process in independent continuant", + "Hyperpigmentation of the skin", + "abnormal penis", + "abnormal uterus", + "Abnormality of the skin", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "Short neck", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "Abnormality of the anus", + ], + "has_phenotype_count": 36, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0014638", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group T", + "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"], + "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", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0004808", + "HP:0001876", + "HP:0001873", + "HP:0009778", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0010628", + ], + "has_phenotype_label": [ + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", + "Short thumb", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Facial palsy", + ], + "has_phenotype_closure": [ + "HP:0012638", + "UPHENO:0002433", + "HP:0010827", + "HP:0000271", + "UPHENO:0076772", + "UPHENO:0078730", + "HP:0011804", + "HP:0010628", + "UPHENO:0004508", + "HP:0000301", + "UPHENO:0003587", + "UPHENO:0076722", + "UPHENO:0081709", + "UPHENO:0087907", + "UPHENO:0080556", + "HP:0410008", + "HP:0000759", + "UPHENO:0076702", + "HP:0003011", + "HP:0000364", + "UPHENO:0002903", + "UPHENO:0052178", + "HP:0012639", + "UPHENO:0050625", + "HP:0000152", + "UPHENO:0052970", + "UPHENO:0002764", + "UPHENO:0080377", + "UPHENO:0002332", + "UPHENO:0005433", + "HP:0006824", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0002240", + "HP:0031704", + "HP:0000002", + "UPHENO:0081424", + "UPHENO:0081423", + "HP:0011017", + "HP:0030319", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0049587", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "UPHENO:0050121", + "UPHENO:0049990", + "HP:0001510", + "UPHENO:0049873", + "UPHENO:0002816", + "UPHENO:0049700", + "HP:0040012", + "UPHENO:0050113", + "HP:0003220", + "HP:0012130", + "UPHENO:0088162", + "HP:0001903", + "UPHENO:0088170", + "UPHENO:0004523", + "UPHENO:0079872", + "UPHENO:0086956", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "UPHENO:0087369", + "UPHENO:0085302", + "UPHENO:0001001", + "UPHENO:0002708", + "UPHENO:0080079", + "HP:0011873", + "HP:0005922", + "HP:0033127", + "UPHENO:0085984", + "UPHENO:0049748", + "UPHENO:0076723", + "HP:0009815", + "HP:0031910", + "UPHENO:0012541", + "UPHENO:0011498", + "UPHENO:0085371", + "HP:0025354", + "HP:0001876", + "UPHENO:0084987", + "HP:0011314", + "UPHENO:0012274", + "HP:0000234", + "UPHENO:0080114", + "UPHENO:0085068", + "UPHENO:0080555", + "UPHENO:0086700", + "UPHENO:0006910", + "UPHENO:0085144", + "HP:0009142", + "UPHENO:0002910", + "HP:0009602", + "UPHENO:0086045", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0081700", + "UPHENO:0046505", + "HP:0012145", + "UPHENO:0075159", + "UPHENO:0087339", + "UPHENO:0015280", + "UPHENO:0076740", + "UPHENO:0063722", + "HP:0001872", + "HP:0005927", + "UPHENO:0000543", + "HP:0004377", + "UPHENO:0085344", + "HP:0001881", + "UPHENO:0049874", + "UPHENO:0086049", + "HP:0000924", + "HP:0010987", + "HP:0001877", + "HP:0001909", + "HP:0045010", + "HP:0001324", + "HP:0002488", + "HP:0002664", + "UPHENO:0050845", + "BFO:0000020", + "HP:0011842", + "UPHENO:0087123", + "HP:0006265", + "UPHENO:0076727", + "BFO:0000001", + "HP:0009997", + "HP:0001873", + "HP:0006496", + "HP:0032251", + "UPHENO:0080352", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0002844", + "UPHENO:0001002", + "HP:0005528", + "HP:0011793", + "UPHENO:0002948", + "UPHENO:0001005", + "HP:0040064", + "UPHENO:0000541", + "UPHENO:0086005", + "UPHENO:0086635", + "HP:0000118", + "UPHENO:0076710", + "HP:0001172", + "HP:0011805", + "UPHENO:0082875", + "HP:0004322", + "UPHENO:0046707", + "UPHENO:0079876", + "UPHENO:0001003", + "UPHENO:0004459", + "UPHENO:0031839", + "BFO:0000002", + "UPHENO:0052231", + "UPHENO:0002536", + "HP:0001291", + "UPHENO:0021800", + "HP:0045060", + "HP:0011799", + "HP:0004808", + "UPHENO:0084928", + "UPHENO:0002320", + "UPHENO:0087355", + "HP:0005561", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0069254", + "UPHENO:0076718", + "UPHENO:0046624", + "HP:0000001", + "PATO:0000001", + "UPHENO:0050620", + "HP:0002715", + "UPHENO:0076703", + "UPHENO:0088166", + "HP:0011875", + "UPHENO:0002964", + "UPHENO:0080099", + "UPHENO:0080351", + "UPHENO:0046411", + "HP:0002813", + "UPHENO:0020584", + "HP:0020047", + "HP:0011893", + "UPHENO:0086173", + "UPHENO:0002908", + "UPHENO:0075195", + "HP:0011927", + "HP:0004275", + "UPHENO:0085118", + "HP:0011297", + "UPHENO:0005116", + "HP:0040070", + "HP:0040068", + "UPHENO:0085195", + "HP:0009381", + "UPHENO:0076724", + "UPHENO:0002880", + "UPHENO:0076675", + "UPHENO:0002830", + "UPHENO:0068971", + "UPHENO:0002905", + "UPHENO:0086589", + "UPHENO:0002896", + "HP:0000365", + "UPHENO:0084448", + "UPHENO:0084763", + "HP:0009778", + "UPHENO:0084761", + "UPHENO:0088186", + "UPHENO:0086633", + "HP:0001167", + "HP:0001507", + "HP:0009601", + "UPHENO:0080126", + "UPHENO:0084766", + "UPHENO:0077426", + "UPHENO:0087006", + "HP:0001155", + "HP:0000707", + "HP:0002817", + "UPHENO:0086172", + "HP:0011844", + "HP:0009115", + "UPHENO:0087501", + "UPHENO:0084447", + ], + "has_phenotype_closure_label": [ + "Abnormality of the nervous system", + "Abnormality of the seventh cranial nerve", + "abnormal cranial nerve morphology", + "paralysed anatomical entity", + "Abnormal skeletal muscle morphology", + "Abnormal muscle physiology", + "Abnormality of facial musculature", + "abnormality of cranial nerve physiology", + "abnormal facial muscle", + "abnormal facial nerve", + "abnormal muscle organ morphology", + "Abnormality of the peripheral nervous system", + "abnormal head morphology", + "Cranial nerve paralysis", + "decreased anatomical entity strength", + "Abnormal nervous system physiology", + "Abnormal nervous system morphology", + "Abnormal peripheral nerve morphology by anatomical site", + "Facial palsy", + "abnormal ear", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Abnormality of head or neck", + "decreased biological_process", + "abnormal craniocervical region", + "abnormality of anatomical entity physiology", + "Hearing abnormality", + "Hearing impairment", + "delayed growth", + "abnormal growth", + "Abnormal peripheral nervous system morphology", + "decreased size of the multicellular organism", + "delayed biological_process", + "abnormality of muscle organ physiology", + "Growth delay", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "abnormal nitrogen compound metabolic process", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Abnormal cranial nerve morphology", + "abnormal peripheral nervous system morphology", + "abnormal biological_process", + "abnormal primary metabolic process", + "abnormality of ear physiology", + "Abnormality of metabolism/homeostasis", + "abnormal cellular metabolic process", + "Abnormality of the head", + "Anemia", + "Abnormal cellular physiology", + "Abnormal erythrocyte morphology", + "Duplication of phalanx of hand", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal DNA metabolic process", + "abnormally decreased number of myeloid cell", + "abnormal long bone morphology", + "Duplication of bones involving the upper extremities", + "abnormal platelet", + "Abnormality of chromosome stability", + "abnormal manus", + "abnormal manual digit morphology in the manus", + "Abnormal cranial nerve physiology", + "changed biological_process rate", + "abnormal sensory perception", + "Abnormal myeloid cell morphology", + "decreased height of the multicellular organism", + "Abnormal finger phalanx morphology", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "Duplication of hand bones", + "abnormal face", + "abnormally decreased number of hematopoietic cell", + "paralysed cranial nerve", + "abnormal head", + "abnormal bone marrow morphology", + "decreased size of the anatomical entity in the independent continuant", + "Abnormal platelet count", + "abnormal platelet morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal hematopoietic cell morphology", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal leukocyte count", + "abnormal musculature", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormal cell morphology", + "abnormal number of anatomical enitites of type cell", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Acute leukemia", + "decreased qualitatively sensory perception of mechanical stimulus", + "entity", + "abnormal hematopoietic system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "Growth abnormality", + "abnormal cellular process", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal nervous system", + "Neoplasm", + "abnormal erythrocyte morphology", + "abnormally decreased number of anatomical entity", + "abnormal peripheral nervous system", + "Abnormality of the hand", + "Short digit", + "Abnormal thumb morphology", + "phenotype by ontology source", + "Abnormal cellular phenotype", + "Abnormal ear physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal phenotype by ontology source", + "decreased length of digit", + "abnormal cellular component organization", + "specifically dependent continuant", + "abnormal erythroid lineage cell morphology", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "Pancytopenia", + "decreased length of manual digit 1", + "Neoplasm by anatomical site", + "quality", + "abnormal craniocervical region morphology", + "continuant", + "decreased qualitatively biological_process", + "Abnormal upper limb bone morphology", + "All", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic system morphology", + "Abnormal digit morphology", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Muscle weakness", + "abnormal bone of pectoral complex morphology", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", + "Acute myeloid leukemia", + "abnormal cell", + "abnormal anatomical entity length", + "abnormally decreased number of cell", + "Short stature", + "abnormal number of anatomical enitites of type leukocyte", + "Leukemia", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal anatomical entity", + "abnormal immune system", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular immune system morphology", + "Aplasia/Hypoplasia of the thumb", + "abnormality of nervous system physiology", + "abnormal immune system morphology", + "phenotype", + "Abnormal hand morphology", + "Abnormality of the immune system", + "Abnormality of body height", + "Abnormal appendicular skeleton morphology", + "abnormal limb long bone morphology", + "Hematological neoplasm", + "Abnormal leukocyte morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "abnormal chromatin organization", + "Abnormal skeletal morphology", + "Aplasia/hypoplasia of the extremities", + "abnormal leukocyte morphology", + "abnormal bone marrow cell", + "Weakness of facial musculature", + "abnormal cell morphology", + "abnormal sensory perception of sound", + "Abnormal long bone morphology", + "Abnormality of thrombocytes", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal phalanx of manus morphology", + "abnormal skeletal system", + "abnormal forelimb morphology", + "abnormal anatomical entity morphology in the manus", + "abnormal size of anatomical entity", + "decreased length of manual digit", + "Abnormality of facial soft tissue", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Short finger", + "Aplasia/hypoplasia involving the skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal limb bone", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Abnormal finger morphology", + "Abnormality of the musculature", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "decreased muscle organ strength", + "Short thumb", + "abnormal phalanx morphology", + "Abnormality of limb bone", + "abnormal nervous system morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of the upper limb", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal arm", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal autopod region morphology", + "abnormal limb", + "aplasia or hypoplasia of skeleton", + "abnormal manual digit morphology in the independent continuant", + "abnormal manus morphology", + "abnormal nerve", + "abnormal organelle organization", + "abnormal digit", + "Abnormality of the face", + "Bone marrow hypocellularity", + "Abnormality of the ear", + "abnormal manual digit 1 morphology", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + ], + "has_phenotype_count": 11, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/search_query.py b/backend/tests/fixtures/search_query.py index 2bac987e0..b389c3774 100644 --- a/backend/tests/fixtures/search_query.py +++ b/backend/tests/fixtures/search_query.py @@ -16,6 +16,6 @@ def search_query(): "def_type": "edismax", "q_op": "AND", "mm": "100%", - "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:PhenotypicFeature"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', + "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:Disease"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', "sort": None, } diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py index 8273fc5f3..3586bd0dc 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": 3, + "QTime": 2, "params": { "mm": "100%", "q": "fanconi", @@ -14,7 +14,7 @@ def search_response(): "qf": "id^100 name^10 name_t^5 name_ac symbol^10 symbol_t^5 symbol_ac synonym synonym_t synonym_ac", "start": "0", "q.op": "AND", - "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:PhenotypicFeature"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', + "boost": 'product(if(termfreq(category,"biolink:PhenotypicFeature"),1.1,1),if(termfreq(category,"biolink:Disease"),1.3,1),if(and(termfreq(in_taxon,"NCBITaxon:9606"),termfreq(category,"biolink:Gene")),1.1,1),if(termfreq(deprecated,"true"),0.1,1))', "fq": "name:*", "rows": "20", "facet": "true", @@ -24,17 +24,6 @@ def search_response(): "num_found": 101, "start": 0, "docs": [ - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], - "provided_by": "phenio_nodes", - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], - "namespace": "HP", - "has_phenotype_count": 0, - }, { "id": "MONDO:0019391", "category": "biolink:Disease", @@ -2184,69 +2173,6 @@ def search_response(): "anatomical entity hypoplasia in independent continuant", ], }, - { - "id": "Reactome:R-CEL-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:6239", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-MMU-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10090", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-RNO-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10116", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-DDI-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:44689", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-GGA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9031", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-SSC-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9823", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-XTR-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:8364", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, { "id": "MONDO:0009217", "category": "biolink:Disease", @@ -2542,15 +2468,6 @@ def search_response(): "namespace": "MONDO", "has_phenotype_count": 0, }, - { - "id": "Reactome:R-CFA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9615", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, { "id": "MONDO:0007600", "category": "biolink:Disease", @@ -2563,50 +2480,9217 @@ def search_response(): "has_phenotype_count": 0, }, { - "id": "Reactome:R-BTA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9913", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-DRE-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7955", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-DME-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7227", - "namespace": "Reactome", - "has_phenotype_count": 0, - }, - { - "id": "Reactome:R-HSA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9606", - "namespace": "Reactome", - "has_phenotype_count": 0, + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], + "provided_by": "phenio_nodes", + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", + "Short stature", + "Bone pain", + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria", + ], + "has_phenotype_count": 17, + "has_phenotype_closure": [ + "UPHENO:0068134", + "UPHENO:0068102", + "UPHENO:0051678", + "HP:0011280", + "UPHENO:0046344", + "HP:0000083", + "HP:0025142", + "UPHENO:0049874", + "HP:0000002", + "HP:0001507", + "UPHENO:0020584", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0081423", + "HP:0004364", + "UPHENO:0068533", + "UPHENO:0081424", + "UPHENO:0082534", + "UPHENO:0051648", + "UPHENO:0068384", + "UPHENO:0081550", + "UPHENO:0051680", + "UPHENO:0068068", + "HP:0012337", + "UPHENO:0051630", + "HP:0033331", + "HP:0003165", + "UPHENO:0051936", + "UPHENO:0076285", + "UPHENO:0051612", + "HP:0001948", + "UPHENO:0068472", + "UPHENO:0086128", + "UPHENO:0051741", + "UPHENO:0068477", + "HP:0003076", + "UPHENO:0080659", + "UPHENO:0080658", + "UPHENO:0068058", + "HP:0002653", + "UPHENO:0051635", + "UPHENO:0051712", + "UPHENO:0051640", + "UPHENO:0077826", + "UPHENO:0068247", + "UPHENO:0081547", + "UPHENO:0068064", + "UPHENO:0080638", + "UPHENO:0078589", + "UPHENO:0050116", + "UPHENO:0051628", + "UPHENO:0078628", + "HP:0002157", + "HP:0100530", + "UPHENO:0076287", + "UPHENO:0068047", + "HP:0000818", + "HP:0000117", + "UPHENO:0051709", + "UPHENO:0051804", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0034253", + "UPHENO:0051960", + "UPHENO:0068144", + "UPHENO:0068174", + "HP:0012591", + "HP:0001939", + "UPHENO:0086132", + "HP:0010876", + "HP:0003077", + "HP:0003110", + "BFO:0000002", + "UPHENO:0002832", + "HP:0033127", + "HP:0012599", + "HP:0002150", + "HP:0011842", + "UPHENO:0002332", + "HP:0000114", + "UPHENO:0068104", + "UPHENO:0002642", + "UPHENO:0001001", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0000079", + "HP:0004322", + "UPHENO:0052038", + "UPHENO:0068054", + "UPHENO:0051186", + "UPHENO:0082875", + "HP:0003111", + "UPHENO:0080643", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0076289", + "HP:0003330", + "UPHENO:0068971", + "UPHENO:0050080", + "UPHENO:0082536", + "UPHENO:0051864", + "HP:0032245", + "UPHENO:0002411", + "UPHENO:0046362", + "UPHENO:0049723", + "HP:0000938", + "BFO:0000001", + "HP:0000924", + "UPHENO:0052116", + "UPHENO:0051668", + "HP:0000118", + "HP:0004360", + "UPHENO:0034391", + "UPHENO:0081546", + "HP:0004348", + "HP:0000001", + "UPHENO:0080352", + "UPHENO:0068442", + "HP:0000093", + "UPHENO:0076692", + "HP:0003117", + "PATO:0000001", + "UPHENO:0002442", + "UPHENO:0068049", + "UPHENO:0049587", + "UPHENO:0001002", + "UPHENO:0051763", + "UPHENO:0082539", + "UPHENO:0082538", + "HP:0032369", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0051686", + "UPHENO:0001005", + "HP:0100529", + "UPHENO:0076286", + "UPHENO:0004459", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0082541", + "HP:0100511", + "HP:0031415", + "UPHENO:0051900", + "UPHENO:0003116", + "UPHENO:0068538", + "UPHENO:0051847", + "HP:0012211", + "UPHENO:0049618", + "UPHENO:0081548", + "UPHENO:0076703", + "HP:0430071", + "BFO:0000020", + "UPHENO:0001003", + "UPHENO:0082540", + "UPHENO:0046286", + "UPHENO:0049628", + "UPHENO:0002536", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0051670", + "HP:0011277", + "UPHENO:0084653", + "UPHENO:0048763", + "HP:0001992", + "HP:0002148", + "UPHENO:0069254", + "UPHENO:0075902", + "UPHENO:0066739", + "UPHENO:0034217", + "HP:0000077", + "HP:0020129", + "UPHENO:0002803", + "HP:0010935", + "HP:0000124", + "UPHENO:0000541", + "UPHENO:0066943", + "HP:0011843", + "UPHENO:0082943", + "UPHENO:0068313", + "HP:0031980", + "HP:0002757", + "HP:0012531", + "UPHENO:0051739", + "HP:0002659", + "HP:0100508", + "UPHENO:0081440", + "HP:0032943", + "HP:0002748", + "UPHENO:0000543", + "UPHENO:0068491", + "HP:0012213", + "UPHENO:0075195", + "HP:0033354", + "UPHENO:0068495", + "UPHENO:0024906", + "UPHENO:0079536", + "HP:0012072", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0040156", + "UPHENO:0046284", + "UPHENO:0068110", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0081544", + "UPHENO:0068089", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0015280", + "UPHENO:0082542", + "UPHENO:0012541", + "HP:0002152", + "HP:0002909", + "UPHENO:0077821", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0068169", + "UPHENO:0078554", + "UPHENO:0079534", + "UPHENO:0068565", + "UPHENO:0076293", + "UPHENO:0049904", + "UPHENO:0046291", + "UPHENO:0068251", + "HP:0001510", + "UPHENO:0049873", + "UPHENO:0051801", + "UPHENO:0046281", + "HP:0012212", + "UPHENO:0048711", + "HP:0003119", + ], + "has_phenotype_closure_label": [ + "Hypercalciuria", + "non-functional kidney", + "non-functional anatomical entity", + "Pain", + "Constitutional symptom", + "delayed growth", + "abnormal growth", + "delayed biological_process", + "abnormal anatomical entity morphology in the independent continuant", + "Growth delay", + "Growth abnormality", + "Short stature", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "Abnormality of body height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of anatomical entity", + "increased level of chemical entity in blood serum", + "Alkalosis", + "Alkalemia", + "increased level of parathyroid hormone in independent continuant", + "Abnormality of acid-base homeostasis", + "Acute phase response", + "Azotemia", + "abnormal blood serum chemical entity level", + "abnormal acid bodily fluid level", + "Abnormal homeostasis", + "abnormal role blood serum level", + "increased level of parathyroid hormone in blood", + "Abnormal circulating protein concentration", + "abnormal blood nitrogen molecular entity level", + "abnormal blood parathyroid hormone level", + "Hyperproteinemia", + "increased blood serum role level", + "abnormal independent continuant parathyroid hormone level", + "increased bodily fluid base level", + "Elevated circulating parathyroid hormone level", + "increased level of glucose in urine", + "abnormal independent continuant protein polypeptide chain level", + "abnormal vitamin metabolic process", + "abnormal independent continuant glucose level", + "increased level of lipid", + "abnormal independent continuant lipid level", + "abnormal hormone blood level", + "Glycosuria", + "abnormal lipid metabolic process", + "abnormal lipid level", + "Abnormal circulating metabolite concentration", + "increased level of carboxylic acid in urine", + "abnormal chemical homeostasis", + "abnormal independent continuant monoatomic ion level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal role urine level", + "Hypophosphatemia", + "abnormal independent continuant protein level", + "abnormal genitourinary system", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "Renal phosphate wasting", + "Abnormality of the urinary system physiology", + "increased level of protein polypeptide chain in urine", + "increased blood role level", + "abnormal blood phosphate level", + "increased level of parathyroid hormone in blood serum", + "abnormal small molecule metabolic process", + "Abnormal bone ossification", + "abnormal multicellular organism chemical entity level", + "Osteomalacia", + "increased level of protein", + "abnormal anatomical entity morphology", + "decreased height of the multicellular organism", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "increased level of organic acid in independent continuant", + "abnormal primary metabolic process", + "abnormal urine phosphate level", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "abnormal hematopoietic system", + "increased level of protein in independent continuant", + "increased level of nitrogen molecular entity in blood", + "abnormal amino acid level", + "Abnormal urine protein level", + "abnormal homeostatic process", + "abnormal bone element mass density", + "abnormal blood protein polypeptide chain level", + "abnormal urine chemical entity level", + "Increased susceptibility to fractures", + "continuant", + "quality", + "Abnormal circulating hormone concentration", + "Reduced bone mineral density", + "abnormal independent continuant calcium atom level", + "Abnormal urine phosphate concentration", + "abnormal skeletal system", + "anatomical entity dysfunction in independent continuant", + "increased level of chemical entity", + "abnormal protein level", + "increased level of chemical entity in blood plasma", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal role bodily fluid level", + "decreased level of phosphate in blood", + "phenotype", + "increased independent continuant base level", + "Abnormality of bone mineral density", + "Abnormality of the urinary system", + "increased level of protein in blood", + "Phenotypic abnormality", + "increased level of calcium atom in independent continuant", + "Bone pain", + "Abnormality of urine homeostasis", + "abnormal phosphate level", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "abnormality of renal system physiology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "abnormal hormone independent continuant level", + "increased level of lipid in independent continuant", + "abnormal phenotype by ontology source", + "abnormally decreased functionality of the nephron tubule", + "abnormality of anatomical entity physiology", + "decreased size of the multicellular organism", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "Abnormality of urine calcium concentration", + "abnormal anatomical entity mass density", + "Hyperlipidemia", + "abnormal vitamin D level", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "decreased level of chemical entity", + "Abnormality of blood and blood-forming tissues", + "Abnormal blood phosphate concentration", + "Abnormal glomerular filtration rate", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "increased level of calcium atom in urine", + "abnormality of kidney physiology", + "abnormal kidney", + "Proximal tubulopathy", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "entity", + "abnormal blood lipid level", + "Abnormal renal physiology", + "abnormally decreased functionality of the anatomical entity", + "increased level of amino acid in independent continuant", + "abnormal phosphate ion homeostasis", + "increased level of vitamin D", + "Proteinuria", + "abnormal upper urinary tract", + "increased blood serum base level", + "Abnormality of the kidney", + "Renal tubular dysfunction", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal musculoskeletal physiology", + "abnormality of musculoskeletal system physiology", + "All", + "Recurrent fractures", + "Rickets", + "Renal insufficiency", + "High serum calcitriol", + "abnormal role blood level", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "Osteopenia", + "Abnormality of vitamin D metabolism", + "Aminoaciduria", + "increased level of lipid in blood", + "Abnormal circulating organic compound concentration", + "abnormal vitamin D metabolic process", + "increased independent continuant hormone level", + "abnormal urine amino acid level", + "specifically dependent continuant", + "abnormal metabolite independent continuant level", + "increased level of carboxylic acid in independent continuant", + "increased level of calcitriol in independent continuant", + "increased independent continuant role level", + "abnormal endocrine system", + "abnormal independent continuant carboxylic acid level", + "abnormal blood plasma chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "increased level of organic molecular entity in independent continuant", + "abnormal urine calcium atom level", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "Decreased glomerular filtration rate", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "increased level of organic acid in urine", + "increased level of glucose in independent continuant", + "Abnormal urine carboxylic acid level", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "abnormal independent continuant phosphate level", + "Elevated urinary carboxylic acid", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormal calcium atom level", + "Generalized aminoaciduria", + "increased independent continuant acid level", + "Aciduria", + "increased level of calcitriol in blood", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "Abnormal metabolism", + "abnormal metabolic process", + "Abnormal circulating lipid concentration", + "Abnormality of vitamin metabolism", + "Abnormality of the endocrine system", + ], }, { - "id": "GO:0043240", - "category": "biolink:MacromolecularComplex", - "name": "Fanconi anaemia nuclear complex", - "description": "A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage.", + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "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", - "synonym": ["FA complex", "FA core complex", "FA nuclear complex", "Fanconi anaemia complex"], - "namespace": "GO", - "has_phenotype_count": 0, + "synonym": [ + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0001510", + "HP:0003259", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126", + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Growth delay", + "Elevated circulating creatinine concentration", + "Hyperphosphaturia", + "Rickets", + "Bowing of the legs", + "Glycosuria", + "Renal insufficiency", + "Short stature", + "Aminoaciduria", + "Low-molecular-weight proteinuria", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "UPHENO:0051801", + "UPHENO:0068565", + "UPHENO:0068169", + "HP:0032943", + "HP:0001992", + "UPHENO:0068144", + "UPHENO:0046286", + "UPHENO:0051670", + "HP:0040156", + "HP:0031980", + "HP:0012072", + "UPHENO:0068495", + "UPHENO:0012541", + "HP:0000002", + "UPHENO:0068971", + "UPHENO:0075159", + "UPHENO:0081424", + "HP:0020129", + "UPHENO:0002803", + "HP:0012211", + "UPHENO:0069254", + "UPHENO:0075902", + "UPHENO:0086128", + "HP:0010935", + "HP:0000077", + "HP:0000083", + "HP:0003076", + "UPHENO:0080659", + "UPHENO:0080658", + "UPHENO:0068058", + "UPHENO:0075195", + "HP:0033354", + "UPHENO:0051635", + "UPHENO:0051640", + "UPHENO:0079873", + "UPHENO:0076727", + "UPHENO:0081423", + "UPHENO:0082449", + "UPHENO:0041226", + "UPHENO:0020041", + "UPHENO:0075952", + "UPHENO:0068064", + "HP:0002157", + "HP:0012100", + "HP:0002748", + "UPHENO:0077821", + "HP:0011277", + "UPHENO:0086956", + "UPHENO:0051630", + "UPHENO:0076285", + "UPHENO:0068251", + "UPHENO:0082543", + "UPHENO:0002411", + "UPHENO:0082536", + "UPHENO:0068091", + "HP:0032180", + "UPHENO:0080351", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0004459", + "UPHENO:0076286", + "UPHENO:0079534", + "UPHENO:0051894", + "HP:0003259", + "UPHENO:0051763", + "UPHENO:0003070", + "UPHENO:0068190", + "UPHENO:0041258", + "UPHENO:0051847", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0000543", + "UPHENO:0068049", + "UPHENO:0049587", + "UPHENO:0081547", + "UPHENO:0068089", + "HP:0001942", + "HP:0001507", + "UPHENO:0031193", + "HP:0000118", + "UPHENO:0001001", + "UPHENO:0082538", + "UPHENO:0082539", + "BFO:0000001", + "UPHENO:0000541", + "UPHENO:0052116", + "UPHENO:0051668", + "HP:0000924", + "UPHENO:0002536", + "HP:0012337", + "UPHENO:0078550", + "HP:0004364", + "UPHENO:0076289", + "UPHENO:0051753", + "UPHENO:0068346", + "HP:0003126", + "HP:0001871", + "UPHENO:0075696", + "BFO:0000002", + "HP:0003110", + "UPHENO:0001005", + "UPHENO:0051686", + "UPHENO:0079536", + "BFO:0000020", + "HP:0430071", + "UPHENO:0001002", + "HP:0000940", + "UPHENO:0081546", + "HP:0004360", + "HP:0001941", + "UPHENO:0001003", + "HP:0000001", + "HP:0004348", + "UPHENO:0051900", + "UPHENO:0041573", + "UPHENO:0081550", + "UPHENO:0051804", + "HP:0001939", + "UPHENO:0077858", + "UPHENO:0068247", + "UPHENO:0077826", + "UPHENO:0002332", + "HP:0012599", + "UPHENO:0041610", + "HP:0033127", + "HP:0011842", + "UPHENO:0046284", + "UPHENO:0068110", + "UPHENO:0086628", + "HP:0004322", + "UPHENO:0068054", + "UPHENO:0052038", + "UPHENO:0082875", + "UPHENO:0082542", + "UPHENO:0015280", + "UPHENO:0002642", + "PATO:0000001", + "UPHENO:0002442", + "UPHENO:0081544", + "UPHENO:0046348", + "HP:0000079", + "UPHENO:0086132", + "UPHENO:0068352", + "HP:0040068", + "HP:0011314", + "HP:0003330", + "HP:0000093", + "UPHENO:0080352", + "UPHENO:0068442", + "UPHENO:0076692", + "UPHENO:0068040", + "UPHENO:0082835", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0081548", + "UPHENO:0076703", + "UPHENO:0084653", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0002896", + "UPHENO:0031310", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0041536", + "UPHENO:0078554", + "UPHENO:0076740", + "UPHENO:0082467", + "UPHENO:0002830", + "HP:0011844", + "UPHENO:0068472", + "UPHENO:0041098", + "HP:0002814", + "UPHENO:0080300", + "HP:0006487", + "HP:0001510", + "HP:0002979", + "UPHENO:0051739", + "UPHENO:0084767", + "UPHENO:0086635", + "HP:0002981", + "UPHENO:0086780", + "UPHENO:0002832", + "UPHENO:0084763", + "UPHENO:0068538", + "HP:0040064", + "HP:0003109", + "HP:0012591", + "UPHENO:0082129", + ], + "has_phenotype_closure_label": [ + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "Aciduria", + "increased level of amino acid in independent continuant", + "increased level of carboxylic acid in urine", + "increased level of organic acid in urine", + "increased independent continuant base level", + "Organic aciduria", + "abnormal independent continuant carboxylic acid level", + "Aminoaciduria", + "increased level of organic acid in independent continuant", + "Short stature", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of anatomical entity", + "Abnormality of the kidney", + "non-functional anatomical entity", + "Proteinuria", + "abnormal upper urinary tract", + "abnormal kidney", + "abnormal independent continuant glucose level", + "abnormal role urine level", + "increased level of glucose in urine", + "Abnormal urine carboxylic acid level", + "increased level of glucose in independent continuant", + "abnormal limb bone morphology", + "shape long bone", + "increased level of carboxylic acid in independent continuant", + "Abnormal diaphysis morphology", + "Abnormal renal physiology", + "curved anatomical entity", + "Abnormal circulating metabolite concentration", + "increased level of protein polypeptide chain in urine", + "increased blood role level", + "Growth abnormality", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "increased blood serum role level", + "All", + "phenotype by ontology source", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic system", + "increased level of protein polypeptide chain in independent continuant", + "abnormal urine glucose level", + "entity", + "abnormal role blood serum level", + "abnormal bone element mass density", + "abnormal amino acid level", + "increased level of nitrogen molecular entity in blood", + "abnormal limb bone", + "Abnormal bone ossification", + "abnormal phenotype by ontology source", + "Growth delay", + "increased independent continuant role level", + "abnormal biological_process", + "abnormal chemical entity level", + "Low-molecular-weight proteinuria", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormal multicellular organism chemical entity level", + "abnormal shape of continuant", + "abnormal independent continuant creatinine level", + "Elevated circulating creatinine concentration", + "increased level of chemical entity", + "Abnormal circulating creatinine concentration", + "Abnormal urine metabolite level", + "increased level of creatinine in blood", + "increased bodily fluid acid level", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "Abnormality of acid-base homeostasis", + "Glycosuria", + "Abnormality of the calf", + "delayed growth", + "Azotemia", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "increased level of organic molecular entity in independent continuant", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "abnormal acid bodily fluid level", + "Abnormality of the urinary system physiology", + "Acidosis", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of chemical entity in blood plasma", + "abnormal hindlimb morphology", + "abnormal genitourinary system", + "shape anatomical entity", + "Abnormality of urine homeostasis", + "increased level of creatinine in independent continuant", + "delayed biological_process", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "continuant", + "phenotype", + "Reduced bone mineral density", + "abnormal blood creatinine level", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "Decreased anatomical entity mass density", + "abnormal metabolite independent continuant level", + "specifically dependent continuant", + "abnormal role bodily fluid level", + "abnormal blood plasma chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "Metabolic acidosis", + "increased independent continuant acid level", + "Renal insufficiency", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Abnormal homeostasis", + "Bowing of the legs", + "increased level of creatinine in blood serum", + "abnormal anatomical entity morphology", + "abnormal diaphysis morphology", + "increased level of chemical entity in blood serum", + "abnormal urine chemical entity level", + "abnormality of anatomical entity physiology", + "decreased size of the multicellular organism", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "Abnormal urine phosphate concentration", + "quality", + "abnormal anatomical entity morphology in the pelvic complex", + "increased level of amino acid in urine", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "abnormal phosphate level", + "abnormal long bone morphology", + "Elevated urinary carboxylic acid", + "abnormal leg", + "abnormal independent continuant phosphate level", + "increased level of phosphate in urine", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal limb", + "increased level of chemical entity in blood", + "Abnormal urinary electrolyte concentration", + "abnormality of renal system physiology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "abnormal urine phosphate level", + "Abnormality of the urinary system", + "abnormal anatomical entity mass density", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "decreased height of the multicellular organism", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "abnormal hindlimb zeugopod, curved", + "Rickets", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "curvature anatomical entity", + "curved hindlimb zeugopod", + "abnormal blood serum chemical entity level", + "curved long bone", + "non-functional kidney", + "abnormal diaphysis morphology in the independent continuant", + "Abnormality of the upper urinary tract", + "shape anatomical entity in independent continuant", + "abnormal limb morphology", + "abnormal growth", + "abnormal hindlimb zeugopod morphology", + "abnormality of kidney physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal renal system", + "Abnormal long bone morphology", + "Abnormality of body height", + "Abnormal appendicular skeleton morphology", + "curvature anatomical entity in independent continuant", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal independent continuant amino acid level", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "abnormal hindlimb zeugopod", + "Abnormality of limb bone", + "curved anatomical entity in independent continuant", + "Abnormality of the lower limb", + "abnormal appendicular skeleton morphology", + ], + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "provided_by": "phenio_nodes", + "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", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", + "HP:0004322", + "HP:0003126", + "HP:0000083", + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", + "Short stature", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", + ], + "has_phenotype_count": 39, + "has_phenotype_closure": [ + "UPHENO:0078555", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068079", + "UPHENO:0084542", + "UPHENO:0051619", + "UPHENO:0051714", + "UPHENO:0051608", + "UPHENO:0051688", + "UPHENO:0051659", + "HP:0001995", + "HP:0004918", + "HP:0025142", + "HP:0012531", + "HP:0011279", + "HP:0002659", + "HP:0003081", + "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0078640", + "UPHENO:0050484", + "UPHENO:0086172", + "UPHENO:0084537", + "HP:0010996", + "UPHENO:0049723", + "HP:0004359", + "HP:0010966", + "HP:0012103", + "HP:0025354", + "HP:0003119", + "UPHENO:0006889", + "HP:0011843", + "HP:0003234", + "UPHENO:0082544", + "HP:0004354", + "UPHENO:0034319", + "UPHENO:0084472", + "UPHENO:0068442", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "HP:0004369", + "HP:0011038", + "UPHENO:0051280", + "UPHENO:0051898", + "HP:0011017", + "UPHENO:0034199", + "UPHENO:0051704", + "HP:0011280", + "HP:0002653", + "UPHENO:0076703", + "UPHENO:0049618", + "HP:0011042", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0051887", + "UPHENO:0034438", + "HP:0001943", + "UPHENO:0051958", + "UPHENO:0068352", + "UPHENO:0081777", + "UPHENO:0066927", + "UPHENO:0081544", + "HP:0006530", + "HP:0004352", + "UPHENO:0079536", + "UPHENO:0034217", + "HP:0010929", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0069254", + "HP:0001871", + "UPHENO:0051186", + "HP:0004322", + "HP:0004323", + "HP:0003149", + "UPHENO:0049628", + "UPHENO:0004459", + "UPHENO:0002411", + "UPHENO:0075666", + "UPHENO:0050080", + "UPHENO:0068971", + "UPHENO:0051960", + "UPHENO:0046356", + "UPHENO:0076289", + "UPHENO:0049709", + "UPHENO:0000541", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0034253", + "HP:0001324", + "UPHENO:0082543", + "UPHENO:0068134", + "UPHENO:0067999", + "HP:0000124", + "HP:0010935", + "UPHENO:0078646", + "UPHENO:0034248", + "UPHENO:0068094", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0046283", + "HP:0011277", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0003111", + "HP:0000079", + "HP:0004379", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0079822", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "HP:0012211", + "UPHENO:0051847", + "HP:0001942", + "HP:0001507", + "UPHENO:0076294", + "UPHENO:0002964", + "UPHENO:0084653", + "UPHENO:0002320", + "HP:0430071", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0100529", + "UPHENO:0001005", + "UPHENO:0068036", + "UPHENO:0050113", + "UPHENO:0051686", + "UPHENO:0001002", + "UPHENO:0046284", + "UPHENO:0068110", + "HP:0001947", + "UPHENO:0051645", + "UPHENO:0020748", + "UPHENO:0002442", + "UPHENO:0001003", + "UPHENO:0054261", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0080352", + "HP:0000093", + "HP:0000001", + "HP:0004348", + "UPHENO:0082834", + "HP:0003774", + "UPHENO:0080659", + "UPHENO:0051668", + "UPHENO:0052116", + "HP:0000924", + "HP:0003330", + "HP:0010930", + "UPHENO:0046348", + "HP:0020129", + "HP:0000077", + "UPHENO:0068089", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0001001", + "UPHENO:0081440", + "UPHENO:0086908", + "HP:0012599", + "UPHENO:0075696", + "HP:0011842", + "HP:0002150", + "HP:0033127", + "BFO:0000001", + "UPHENO:0082539", + "UPHENO:0082538", + "UPHENO:0050433", + "UPHENO:0051763", + "HP:0003011", + "HP:0012337", + "UPHENO:0049904", + "UPHENO:0081550", + "HP:0012591", + "HP:0001939", + "UPHENO:0068064", + "HP:0002748", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0081547", + "UPHENO:0068511", + "BFO:0000002", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0012072", + "HP:0003110", + "UPHENO:0034391", + "UPHENO:0010763", + "HP:0032943", + "UPHENO:0051191", + "HP:0011036", + "HP:0010967", + "HP:0034359", + "UPHENO:0054299", + "UPHENO:0051635", + "HP:0002157", + "HP:0000002", + "HP:0033354", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0068058", + "UPHENO:0080658", + "UPHENO:0002332", + "UPHENO:0078554", + "UPHENO:0082943", + "HP:0003646", + "HP:0031980", + "UPHENO:0046362", + "HP:0002900", + "UPHENO:0080556", + "HP:0003155", + "UPHENO:0068495", + "HP:0040156", + "UPHENO:0052008", + "UPHENO:0076299", + "UPHENO:0051670", + "UPHENO:0046286", + "BFO:0000020", + "HP:0011032", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0019970", + "HP:0003355", + "UPHENO:0051930", + "HP:0012252", + "UPHENO:0066943", + "UPHENO:0051709", + "HP:0001992", + "HP:0002086", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0078592", + "UPHENO:0077821", + "UPHENO:0068169", + "HP:0002909", + "UPHENO:0002642", + "UPHENO:0081423", + "UPHENO:0084541", + "UPHENO:0081424", + "UPHENO:0075159", + "HP:0012598", + "UPHENO:0087433", + "UPHENO:0076286", + "UPHENO:0080351", + "UPHENO:0020584", + "UPHENO:0050619", + "HP:0003109", + "HP:0001510", + "UPHENO:0004536", + "UPHENO:0049873", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0012541", + "UPHENO:0068247", + "UPHENO:0068565", + "UPHENO:0051801", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "HP:0000117", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0004325", + "HP:0012622", + "UPHENO:0046344", + "UPHENO:0051678", + "HP:0003076", + "UPHENO:0000543", + "UPHENO:0068102", + "HP:0002206", + "PATO:0000001", + "HP:0002088", + "UPHENO:0051766", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0079824", + "HP:0011014", + "UPHENO:0080555", + "HP:0011015", + "HP:0004349", + "HP:0012603", + "UPHENO:0051866", + "UPHENO:0050116", + "HP:0012606", + "HP:0001941", + "HP:0003648", + "UPHENO:0051804", + "HP:0004912", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0051736", + "HP:0012379", + "UPHENO:0051588", + "UPHENO:0049748", + "UPHENO:0082875", + "UPHENO:0034276", + "UPHENO:0068251", + "UPHENO:0024906", + "UPHENO:0034149", + "UPHENO:0051712", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0066781", + "HP:0034684", + "HP:0010932", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0078616", + ], + "has_phenotype_closure_label": [ + "Proximal renal tubular acidosis", + "Generalized aminoaciduria", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "increased level of purines in independent continuant", + "increased level of uric acid in urine", + "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "abnormal independent continuant hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Hyperchloremic metabolic acidosis", + "Pain", + "Constitutional symptom", + "abnormality of musculoskeletal system physiology", + "abnormal urine potassium atom level", + "Abnormal urine potassium concentration", + "Abnormal circulating fatty-acid concentration", + "abnormal amino acid derivative level", + "abnormal monocarboxylic acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "abnormal carnitine metabolic process", + "Impaired renal tubular reabsorption of phosphate", + "Hyperuricosuria", + "Abnormal circulating enzyme concentration or activity", + "Abnormal renal tubular resorption", + "Rickets", + "Abnormal blood monovalent inorganic cation concentration", + "increased level of organic acid in urine", + "Abnormal blood potassium concentration", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium atom level", + "decreased level of potassium atom in blood", + "abnormal phenotype by ontology source", + "abnormal urine phosphate level", + "Abnormal glucose homeostasis", + "increased level of chemical entity in blood", + "Hyperphosphaturia", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "increased level of phosphate in urine", + "abnormal potassium atom level", + "abnormal skeletal system", + "abnormal renal system process", + "Renal tubular dysfunction", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "decreased level of uric acid in blood", + "Abnormal renal physiology", + "Weight loss", + "abnormal kidney", + "increased level of calcium atom in urine", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "Abnormal blood phosphate concentration", + "Bicarbonate-wasting renal tubular acidosis", + "Abnormality of blood and blood-forming tissues", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Decreased anatomical entity mass", + "Bicarbonaturia", + "increased bodily fluid acid level", + "decreased level of phosphate in blood", + "Elevated urinary carboxylic acid", + "Abnormal circulating metabolite concentration", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal role blood level", + "Renal insufficiency", + "Dehydration", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "decreased level of amino-acid betaine", + "Abnormal urine metabolite level", + "abnormal carbohydrate homeostasis", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "Abnormal blood glucose concentration", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "abnormal homeostatic process", + "decreased muscle organ strength", + "decreased role blood level", + "abnormal blood phosphate level", + "increased level of protein polypeptide chain in urine", + "abnormal renal absorption", + "Abnormality of bone mineral density", + "Muscle weakness", + "decreased anatomical entity strength", + "Bone pain", + "Abnormality of the upper urinary tract", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "abnormal musculature", + "abnormal independent continuant monoatomic ion level", + "abnormal multicellular organism chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "abnormal monoatomic cation homeostasis", + "increased level of potassium atom in urine", + "decreased size of the anatomical entity", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "decreased level of potassium atom in independent continuant", + "Metabolic acidosis", + "increased level of monosaccharide in urine", + "abnormal anatomical entity", + "Abnormality of urine homeostasis", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "abnormal blood potassium(1+) level", + "Acidosis", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "Abnormal urine protein level", + "Abnormal circulating purine concentration", + "abnormal independent continuant glucose level", + "Reduced bone mineral density", + "abnormality of renal system physiology", + "quality", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "abnormal urine chemical entity level", + "All", + "increased level of phosphate in independent continuant", + "abnormal lung morphology", + "abnormal bone element mass density", + "increased level of calcium atom in independent continuant", + "decreased role independent continuant level", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "increased level of monosaccharide in independent continuant", + "abnormal cell", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "decreased height of the multicellular organism", + "abnormality of muscle organ physiology", + "Growth delay", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "increased level of protein", + "Hypercalciuria", + "abnormal renal system", + "abnormal small molecule metabolic process", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "Low-molecular-weight proteinuria", + "Abnormality of acid-base homeostasis", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "Abnormal circulating nitrogen compound concentration", + "Abnormal blood cation concentration", + "abnormal upper urinary tract", + "abnormal skeletal system morphology", + "Proteinuria", + "Abnormal cellular physiology", + "increased level of chemical entity", + "abnormal purine nucleobase metabolic process", + "increased level of rac-lactic acid in urine", + "increased independent continuant acid level", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "abnormal independent continuant carbohydrate level", + "Decreased bone element mass density", + "decreased size of the multicellular organism", + "abnormal acid bodily fluid level", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "entity", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "abnormal genitourinary system", + "increased level of rac-lactic acid in independent continuant", + "increased level of glucose in independent continuant", + "increased level of organic molecular entity in independent continuant", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "increased level of glucose in urine", + "Abnormal bone ossification", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "abnormal respiratory system morphology", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal protein level", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "increased level of organic acid in independent continuant", + "Aminoaciduria", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "increased level of carboxylic acid in independent continuant", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "increased independent continuant base level", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", + "increased level of nitrogen molecular entity in blood", + "Abnormality of the musculature", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Decreased body weight", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "abnormal metabolite independent continuant level", + "decreased height of the anatomical entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "Abnormality of body height", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", + "abnormality of anatomical entity height", + "abnormally decreased functionality of the anatomical entity", + "Short stature", + "decreased anatomical entity mass", + "Growth abnormality", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", + "abnormal anatomical entity morphology in the independent continuant", + "Osteomalacia", + "delayed biological_process", + "abnormal growth", + "abnormal blood uric acid level", + "delayed growth", + "abnormal independent continuant protein polypeptide chain level", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "non-functional kidney", + "Renal phosphate wasting", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "abnormality of anatomical entity mass", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "abnormal calcium atom level", + "abnormal regulation of body fluid levels", + "Abnormal lung morphology", + "abnormal blood nitrogen molecular entity level", + "Abnormal respiratory system morphology", + "lung fibrosis", + "continuant", + "Abnormal circulating nucleobase concentration", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "abnormal urine sodium atom level", + "abnormal independent continuant sodium atom level", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "Abnormal urine sodium concentration", + "non-functional anatomical entity", + "abnormal sodium atom level", + "Hypophosphatemic rickets", + "decreased level of purines", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "Abnormality of fluid regulation", + "abnormal nucleobase metabolic process", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal primary metabolic process", + "Hypouricemia", + "abnormal metabolic process", + "abnormal blood monoatomic ion level", + "decreased level of uric acid in independent continuant", + "Azotemia", + "Hypokalemia", + "Decreased circulating purine concentration", + ], + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "provided_by": "phenio_nodes", + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002857", + "HP:0002097", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0004918", + "HP:0045051", + "HP:0000093", + "HP:0003076", + "HP:0003355", + "HP:0005576", + "HP:0003774", + "HP:0000822", + "HP:0030078", + ], + "has_phenotype_label": [ + "Genu valgum", + "Emphysema", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Hyperchloremic metabolic acidosis", + "Decreased DLCO", + "Proteinuria", + "Glycosuria", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Stage 5 chronic kidney disease", + "Hypertension", + "Lung adenocarcinoma", + ], + "has_phenotype_count": 14, + "has_phenotype_closure": [ + "HP:0100526", + "HP:0030078", + "HP:0032263", + "UPHENO:0080362", + "UPHENO:0002678", + "HP:0030972", + "HP:0011025", + "HP:0001626", + "HP:0012211", + "UPHENO:0086132", + "UPHENO:0086128", + "HP:0012622", + "UPHENO:0002411", + "HP:0000083", + "HP:0005576", + "HP:0012210", + "UPHENO:0076714", + "UPHENO:0087427", + "HP:0012575", + "HP:0010935", + "HP:0000077", + "UPHENO:0068169", + "HP:0032943", + "UPHENO:0068144", + "UPHENO:0046286", + "UPHENO:0051670", + "HP:0031980", + "HP:0012072", + "UPHENO:0068495", + "UPHENO:0068491", + "HP:0003076", + "UPHENO:0080659", + "HP:0000091", + "UPHENO:0080658", + "UPHENO:0068058", + "UPHENO:0051635", + "UPHENO:0051640", + "HP:0011277", + "UPHENO:0002803", + "HP:0020129", + "UPHENO:0051801", + "HP:0000079", + "UPHENO:0077821", + "UPHENO:0068565", + "UPHENO:0002642", + "HP:0003110", + "UPHENO:0068247", + "HP:0033354", + "HP:0030878", + "HP:0045051", + "UPHENO:0002332", + "UPHENO:0002448", + "HP:0002795", + "UPHENO:0081547", + "UPHENO:0068064", + "HP:0001995", + "HP:0012337", + "BFO:0000020", + "UPHENO:0087462", + "UPHENO:0076756", + "UPHENO:0041536", + "UPHENO:0082449", + "UPHENO:0003070", + "UPHENO:0051763", + "UPHENO:0041226", + "UPHENO:0020041", + "BFO:0000002", + "UPHENO:0081548", + "UPHENO:0076703", + "HP:0030358", + "UPHENO:0001003", + "HP:0000822", + "HP:0011842", + "UPHENO:0081550", + "UPHENO:0041573", + "HP:0011314", + "HP:0040068", + "UPHENO:0002832", + "UPHENO:0084763", + "UPHENO:0077858", + "HP:0001939", + "HP:0001941", + "HP:0004360", + "UPHENO:0034391", + "UPHENO:0081546", + "UPHENO:0075952", + "UPHENO:0080300", + "UPHENO:0076289", + "UPHENO:0004459", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0051937", + "HP:0000118", + "UPHENO:0031193", + "HP:0000924", + "UPHENO:0052116", + "UPHENO:0051668", + "UPHENO:0078554", + "UPHENO:0082467", + "UPHENO:0076740", + "UPHENO:0082542", + "UPHENO:0015280", + "UPHENO:0082129", + "HP:0032581", + "HP:0004912", + "HP:0033127", + "UPHENO:0041610", + "HP:0000093", + "UPHENO:0076692", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0086908", + "UPHENO:0075696", + "HP:0001871", + "HP:0002857", + "UPHENO:0076779", + "UPHENO:0068538", + "HP:0040064", + "UPHENO:0002885", + "HP:0011844", + "UPHENO:0041098", + "UPHENO:0002830", + "UPHENO:0068054", + "UPHENO:0082875", + "UPHENO:0051186", + "HP:0001969", + "UPHENO:0051739", + "UPHENO:0084767", + "HP:0100606", + "UPHENO:0051686", + "UPHENO:0076767", + "UPHENO:0087993", + "UPHENO:0086628", + "HP:0030760", + "UPHENO:0001002", + "HP:0002597", + "HP:0000940", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0031310", + "HP:0011793", + "UPHENO:0086780", + "HP:0002981", + "HP:0000001", + "HP:0004348", + "HP:0002814", + "UPHENO:0020748", + "HP:0040156", + "UPHENO:0076299", + "UPHENO:0051930", + "HP:0003355", + "HP:0012252", + "UPHENO:0002896", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0084653", + "HP:0100491", + "HP:0003330", + "UPHENO:0086635", + "UPHENO:0001005", + "HP:0045049", + "HP:0100529", + "HP:0002813", + "UPHENO:0020584", + "BFO:0000001", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0086956", + "UPHENO:0049628", + "UPHENO:0002536", + "HP:0002097", + "HP:0002815", + "HP:0002148", + "UPHENO:0019970", + "HP:0001992", + "HP:0002086", + "UPHENO:0002406", + "UPHENO:0087433", + "UPHENO:0081544", + "HP:0034669", + "UPHENO:0046348", + "HP:0006530", + "UPHENO:0068040", + "HP:0001367", + "UPHENO:0082835", + "HP:0002088", + "HP:0006487", + "HP:0002979", + "UPHENO:0004536", + "UPHENO:0051960", + "UPHENO:0034253", + "UPHENO:0050080", + "UPHENO:0049904", + "UPHENO:0051709", + "UPHENO:0051804", + "UPHENO:0068110", + "UPHENO:0046284", + "UPHENO:0049587", + "UPHENO:0068091", + "HP:0032180", + "UPHENO:0041258", + "UPHENO:0051847", + "UPHENO:0075902", + "UPHENO:0066739", + "UPHENO:0034217", + "HP:0003111", + "HP:0002206", + "HP:0001942", + "UPHENO:0076294", + "UPHENO:0079536", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0003774", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "HP:0002748", + "UPHENO:0048707", + "HP:0011849", + "HP:0002664", + "UPHENO:0082543", + "UPHENO:0068089", + "HP:0004918", + ], + "has_phenotype_closure_label": [ + "Neoplasm of the lung", + "Neoplasm of the respiratory system", + "Lung adenocarcinoma", + "Hypertension", + "Abnormality of the cardiovascular system", + "Abnormal systemic blood pressure", + "Abnormality of the vasculature", + "Chronic kidney disease", + "non-functional anatomical entity", + "abnormal kidney morphology", + "Tubulointerstitial fibrosis", + "abnormal kidney epithelium morphology", + "Abnormality of the kidney", + "Renal fibrosis", + "Abnormal renal morphology", + "abnormal kidney", + "abnormal renal system morphology", + "Aciduria", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "increased level of carboxylic acid in urine", + "Non-small cell lung carcinoma", + "increased level of organic acid in urine", + "abnormal urine amino acid level", + "abnormal cardiovascular system", + "Aminoaciduria", + "increased level of organic acid in independent continuant", + "abnormal independent continuant glucose level", + "increased level of glucose in urine", + "Abnormal urine carboxylic acid level", + "increased level of glucose in independent continuant", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the urinary system", + "abnormality of renal system physiology", + "abnormal upper urinary tract", + "Proteinuria", + "abnormal role urine level", + "Stage 5 chronic kidney disease", + "increased level of organic molecular entity in independent continuant", + "abnormal urine chemical entity level", + "increased level of nitrogen molecular entity in independent continuant", + "Abnormality on pulmonary function testing", + "abnormality of anatomical entity physiology", + "abnormal nephron morphology", + "abnormality of respiratory system physiology", + "Abnormality of the skeletal system", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "abnormal limb", + "Abnormal renal physiology", + "curved anatomical entity", + "Abnormal nephron morphology", + "Hypophosphatemic rickets", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal metabolite independent continuant level", + "specifically dependent continuant", + "abnormality of cardiovascular system physiology", + "increased level of carboxylic acid in independent continuant", + "Abnormal DLCO", + "Abnormal diaphysis morphology", + "lung fibrosis", + "shape long bone", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "abnormal knee morphology", + "abnormal skeletal joint morphology", + "Abnormal blood phosphate concentration", + "Abnormality of limb bone", + "Abnormality of lower limb joint", + "increased independent continuant base level", + "Abnormal pulmonary interstitial morphology", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "increased level of chemical entity", + "abnormal hindlimb zeugopod", + "Abnormal urine protein level", + "abnormal homeostatic process", + "Abnormal cardiovascular system physiology", + "abnormal shape of continuant", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "Abnormal respiratory system morphology", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "entity", + "abnormal limb bone morphology", + "abnormal hematopoietic system", + "Reduced bone mineral density", + "phenotype", + "Organic aciduria", + "decreased level of phosphate in independent continuant", + "abnormal independent continuant carboxylic acid level", + "Genu valgum", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "Abnormality of the upper urinary tract", + "shape anatomical entity in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "curved long bone", + "abnormal diaphysis morphology", + "abnormal anatomical entity morphology", + "Abnormal joint morphology", + "Abnormal appendicular skeleton morphology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "Abnormality of acid-base homeostasis", + "Increased blood pressure", + "curved hindlimb zeugopod", + "abnormal long bone morphology", + "abnormal phosphate level", + "abnormal nephron tubule morphology", + "abnormal limb morphology", + "abnormal phenotype by ontology source", + "Phenotypic abnormality", + "abnormal independent continuant amino acid level", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "non-functional kidney", + "abnormal diaphysis morphology in the independent continuant", + "abnormality of kidney physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "abnormal renal system", + "Abnormal long bone morphology", + "Abnormality of the knee", + "Abnormal renal tubule morphology", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "curvature anatomical entity", + "abnormal skeletal system", + "quality", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal limb bone", + "Abnormal knee morphology", + "Abnormal respiratory system physiology", + "Abnormal homeostasis", + "Bowing of the legs", + "Abnormality of limb bone morphology", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity, curved", + "Glycosuria", + "Abnormality of the calf", + "abnormal respiratory system morphology", + "Renal insufficiency", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "Abnormal lung morphology", + "abnormal vasculature", + "abnormal respiratory system", + "All", + "abnormal lung morphology", + "Hypophosphatemia", + "abnormal multicellular organism chemical entity level", + "abnormal independent continuant monoatomic ion level", + "increased level of protein polypeptide chain in urine", + "Emphysema", + "abnormal blood phosphate level", + "abnormal phosphate ion homeostasis", + "abnormal chemical homeostasis", + "Abnormal circulating metabolite concentration", + "Bowing of the long bones", + "Abnormality of bone mineral density", + "Hyperchloremic acidosis", + "Elevated urinary carboxylic acid", + "abnormal hindlimb joint", + "abnormal leg", + "abnormal independent continuant phosphate level", + "Pulmonary fibrosis", + "abnormal independent continuant chemical entity level", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased level of chemical entity", + "Abnormality of blood and blood-forming tissues", + "Decreased DLCO", + "continuant", + "anatomical entity fibrosis", + "Neoplasm by anatomical site", + "abnormal knee", + "abnormal anatomical entity mass density", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "abnormal bone element mass density", + "Neoplasm", + "abnormal hindlimb zeugopod, curved", + "Rickets", + "Abnormal bone ossification", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "abnormal acid bodily fluid level", + "increased independent continuant role level", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Acidosis", + "Abnormal renal insterstitial morphology", + "Abnormal tubulointerstitial morphology", + "Hyperchloremic metabolic acidosis", + "Abnormal urine metabolite level", + "abnormal blood monoatomic ion level", + "increased bodily fluid acid level", + "Metabolic acidosis", + "decreased level of phosphate in blood", + "abnormal role bodily fluid level", + "increased independent continuant acid level", + ], + }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "synonym": ["hereditary Fanconi renotubular syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, + { + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "provided_by": "phenio_nodes", + "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "namespace": "HP", + "has_phenotype_count": 0, + }, + { + "id": "MONDO:0009213", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group C", + "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", + "xref": ["DOID:0111087", "GARD:15168", "NCIT:C125704", "OMIM:227645", "UMLS:C3468041"], + "provided_by": "phenio_nodes", + "synonym": [ + "FA3", + "FACC", + "FANCC", + "Fanconi Anemia, complementation group type C", + "Fanconi anaemia complementation group type C", + "Fanconi anemia complementation group C", + "Fanconi anemia complementation group type C", + "Fanconi anemia, complementation group C", + "Fanconi pancytopenia type 3", + "Fanconi pancytopenia, type 3", + "facc", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000086", + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0011940", + "HP:0000252", + "HP:0000957", + "HP:0000815", + "HP:0001017", + "HP:0000104", + "HP:0003974", + "HP:0000028", + "HP:0001876", + "HP:0000325", + "HP:0009778", + "HP:0001873", + "HP:0001511", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0003221", + "HP:0009943", + "HP:0005528", + "HP:0000978", + "HP:0000953", + "HP:0001903", + "HP:0001629", + "HP:0001909", + "HP:0000081", + "HP:0000085", + "HP:0001371", + "HP:0004322", + "HP:0000365", + "HP:0020073", + "HP:0000486", + "HP:0003214", + "HP:0003213", + "HP:0000286", + ], + "has_phenotype_label": [ + "Ectopic kidney", + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Anterior wedging of T12", + "Microcephaly", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Anemic pallor", + "Renal agenesis", + "Absent radius", + "Cryptorchidism", + "Pancytopenia", + "Triangular face", + "Short thumb", + "Thrombocytopenia", + "Intrauterine growth retardation", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bone marrow hypocellularity", + "Bruising susceptibility", + "Hyperpigmentation of the skin", + "Anemia", + "Ventricular septal defect", + "Leukemia", + "Duplicated collecting system", + "Horseshoe kidney", + "Flexion contracture", + "Short stature", + "Hearing impairment", + "Hypopigmented macule", + "Strabismus", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Epicanthus", + ], + "has_phenotype_count": 38, + "has_phenotype_closure": [ + "HP:0000492", + "HP:0032039", + "UPHENO:0087058", + "UPHENO:0065599", + "HP:0030669", + "HP:0000286", + "UPHENO:0049964", + "HP:0003254", + "UPHENO:0049671", + "UPHENO:0049952", + "HP:0003214", + "HP:0012373", + "HP:0000549", + "UPHENO:0079828", + "UPHENO:0049586", + "HP:0020073", + "UPHENO:0080585", + "UPHENO:0050620", + "HP:0000365", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0081440", + "HP:0034430", + "HP:0003549", + "UPHENO:0041821", + "UPHENO:0080351", + "HP:0004742", + "HP:0011793", + "UPHENO:0076776", + "HP:0030680", + "UPHENO:0086854", + "UPHENO:0015282", + "HP:0010438", + "UPHENO:0033572", + "UPHENO:0080362", + "UPHENO:0080581", + "UPHENO:0075655", + "HP:0011028", + "HP:0000978", + "HP:0003213", + "UPHENO:0051097", + "HP:0011025", + "HP:0001626", + "UPHENO:0076761", + "HP:0005528", + "UPHENO:0082444", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "HP:0009998", + "HP:0011018", + "HP:0011314", + "HP:0004275", + "UPHENO:0084447", + "HP:0011017", + "HP:0002664", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "HP:0004377", + "UPHENO:0050845", + "UPHENO:0049990", + "UPHENO:0049748", + "HP:0003220", + "HP:0004325", + "UPHENO:0033604", + "HP:0004323", + "UPHENO:0054299", + "UPHENO:0010763", + "HP:0001518", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0100887", + "HP:0000478", + "HP:0000568", + "HP:0012372", + "HP:0000002", + "UPHENO:0069523", + "UPHENO:0003020", + "HP:0004312", + "UPHENO:0085263", + "HP:0001896", + "HP:0002597", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0005642", + "UPHENO:0000543", + "HP:0001511", + "UPHENO:0012541", + "HP:0034392", + "HP:0009381", + "UPHENO:0031839", + "UPHENO:0046411", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0046624", + "UPHENO:0068971", + "HP:0000271", + "HP:0000496", + "UPHENO:0046707", + "UPHENO:0087472", + "UPHENO:0002910", + "UPHENO:0086173", + "HP:0001999", + "HP:0001872", + "UPHENO:0002903", + "HP:0011875", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0085302", + "UPHENO:0080393", + "HP:0012145", + "HP:0001713", + "UPHENO:0086049", + "HP:0011873", + "UPHENO:0087355", + "UPHENO:0084987", + "UPHENO:0087339", + "UPHENO:0002597", + "UPHENO:0053298", + "UPHENO:0002712", + "UPHENO:0005597", + "UPHENO:0050101", + "HP:0000812", + "HP:0000811", + "HP:0000028", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0041075", + "UPHENO:0085144", + "UPHENO:0050108", + "UPHENO:0021474", + "UPHENO:0002595", + "HP:0009943", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0041629", + "UPHENO:0080382", + "HP:0001510", + "UPHENO:0086201", + "UPHENO:0087888", + "UPHENO:0002598", + "UPHENO:0086855", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0021800", + "UPHENO:0085874", + "HP:0008056", + "HP:0000025", + "UPHENO:0005651", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "HP:0002818", + "UPHENO:0076718", + "HP:0040072", + "HP:0031704", + "HP:0040070", + "UPHENO:0080187", + "HP:0000085", + "HP:0003953", + "UPHENO:0025945", + "HP:0006503", + "HP:0012874", + "HP:0009825", + "UPHENO:0081511", + "HP:0005922", + "UPHENO:0084766", + "HP:0009601", + "HP:0100542", + "UPHENO:0088148", + "UPHENO:0084761", + "HP:0002973", + "UPHENO:0041156", + "UPHENO:0081566", + "HP:0011121", + "UPHENO:0079826", + "HP:0009142", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0087307", + "HP:0011276", + "UPHENO:0084448", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "UPHENO:0076707", + "UPHENO:0021791", + "UPHENO:0081435", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0076724", + "UPHENO:0078452", + "HP:0008422", + "UPHENO:0003055", + "HP:0011805", + "HP:0001671", + "HP:0009777", + "HP:0011297", + "UPHENO:0012274", + "UPHENO:0085118", + "HP:0001167", + "HP:0040064", + "HP:0011940", + "UPHENO:0080662", + "UPHENO:0003116", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "UPHENO:0050034", + "UPHENO:0009341", + "UPHENO:0020584", + "HP:0002813", + "HP:0011991", + "UPHENO:0074589", + "HP:0011354", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0088338", + "HP:0000081", + "UPHENO:0085873", + "HP:0000234", + "HP:0001933", + "HP:0000325", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085194", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0001017", + "UPHENO:0011498", + "UPHENO:0026181", + "HP:0003011", + "HP:0002715", + "UPHENO:0002813", + "UPHENO:0008593", + "UPHENO:0002816", + "UPHENO:0053580", + "UPHENO:0079876", + "HP:0006265", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "UPHENO:0041838", + "HP:0000079", + "HP:0012638", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0055730", + "UPHENO:0076723", + "UPHENO:0085984", + "HP:0020047", + "HP:0011893", + "UPHENO:0052970", + "UPHENO:0075787", + "UPHENO:0015324", + "HP:0000925", + "UPHENO:0081423", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0045060", + "UPHENO:0072402", + "UPHENO:0072195", + "HP:0001876", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0085076", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0001629", + "HP:0000951", + "HP:0012210", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0076740", + "UPHENO:0015280", + "UPHENO:0076744", + "HP:0000001", + "HP:0007400", + "HP:0001892", + "HP:0000315", + "UPHENO:0021561", + "UPHENO:0085189", + "UPHENO:0084420", + "UPHENO:0080200", + "UPHENO:0085371", + "HP:0025354", + "UPHENO:0021425", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0002240", + "UPHENO:0052178", + "HP:0008678", + "HP:0000486", + "HP:0001172", + "HP:0000118", + "HP:0009997", + "HP:0011446", + "HP:0100261", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049940", + "HP:0010935", + "UPHENO:0002764", + "UPHENO:0085405", + "UPHENO:0008523", + "UPHENO:0087518", + "UPHENO:0050008", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0081755", + "UPHENO:0001072", + "HP:0000086", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0011961", + "UPHENO:0087006", + "UPHENO:0075219", + "UPHENO:0077426", + "UPHENO:0088335", + "HP:0003974", + "UPHENO:0076703", + "HP:0001875", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0019886", + "UPHENO:0002406", + "UPHENO:0074584", + "UPHENO:0075878", + "HP:0009778", + "HP:0006496", + "UPHENO:0002371", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0054261", + "UPHENO:0001003", + "UPHENO:0081436", + "HP:0001881", + "UPHENO:0075902", + "HP:0002060", + "UPHENO:0082794", + "UPHENO:0026506", + "HP:0032309", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0002948", + "HP:0001371", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0041221", + "UPHENO:0086866", + "UPHENO:0085330", + "UPHENO:0049622", + "UPHENO:0086016", + "UPHENO:0076810", + "UPHENO:0085356", + "UPHENO:0006910", + "HP:0009602", + "UPHENO:0085070", + "HP:0010974", + "HP:0012443", + "UPHENO:0053588", + "UPHENO:0063722", + "UPHENO:0085042", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0032251", + "UPHENO:0054957", + "UPHENO:0004459", + "UPHENO:0000541", + "HP:0001874", + "HP:0025461", + "UPHENO:0076805", + "HP:0001155", + "HP:0002817", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0049700", + "HP:0001911", + "HP:0005927", + "HP:0011029", + "HP:0000818", + "UPHENO:0086045", + "UPHENO:0076727", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0086019", + "UPHENO:0086700", + "HP:0004322", + "HP:0001249", + "HP:0100543", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0012759", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0002433", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0046759", + "UPHENO:0084107", + "HP:0009121", + "UPHENO:0002896", + "UPHENO:0080300", + "UPHENO:0076695", + "UPHENO:0054970", + "UPHENO:0020950", + "HP:0003468", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0082129", + "UPHENO:0086023", + "UPHENO:0041226", + "UPHENO:0085875", + "HP:0011355", + "UPHENO:0051124", + "HP:0003312", + "UPHENO:0082122", + "UPHENO:0076702", + "UPHENO:0049588", + "HP:0012733", + "UPHENO:0026023", + "UPHENO:0019888", + "UPHENO:0001005", + "HP:0040195", + "UPHENO:0075195", + "HP:0002977", + "UPHENO:0050625", + "HP:0010461", + "HP:0000929", + "HP:0000240", + "UPHENO:0087928", + "HP:0000078", + "UPHENO:0005016", + "HP:0000119", + "UPHENO:0026128", + "HP:0000152", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0026980", + "UPHENO:0075997", + "UPHENO:0020888", + "UPHENO:0086002", + "HP:0000252", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080126", + "UPHENO:0076799", + "HP:0001873", + "HP:0001034", + "HP:0002011", + "UPHENO:0074575", + "UPHENO:0009399", + "UPHENO:0025211", + "UPHENO:0050121", + "UPHENO:0074572", + "HP:0001574", + "UPHENO:0080377", + "BFO:0000020", + "UPHENO:0041381", + "UPHENO:0059829", + "UPHENO:0087547", + "UPHENO:0001001", + "UPHENO:0088170", + "UPHENO:0082682", + "UPHENO:0003811", + "UPHENO:0080221", + "UPHENO:0015327", + "UPHENO:0002635", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0025100", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0024906", + "UPHENO:0049985", + "UPHENO:0078729", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0087369", + "UPHENO:0085195", + "UPHENO:0041467", + "HP:0000135", + "HP:0000815", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "HP:0000080", + "UPHENO:0076710", + "HP:0008373", + "UPHENO:0066972", + "UPHENO:0088176", + "HP:0001903", + "HP:0001877", + "HP:0000980", + "HP:0000953", + "UPHENO:0088162", + "HP:0012130", + "UPHENO:0050113", + "HP:0000104", + "UPHENO:0002219", + "HP:0011843", + "HP:0011729", + "UPHENO:0020809", + "HP:0000957", + "HP:0009823", + "UPHENO:0087510", + ], + "has_phenotype_closure_label": [ + "abnormal zone of skin morphology", + "abnormal ocular adnexa", + "abnormal skin of head morphology", + "abnormal skin of face morphology", + "increased size of the anatomical entity in independent continuant", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal cellular response to stress", + "Atypical behavior", + "abnormal behavior process", + "Abnormal conjugate eye movement", + "Abnormal eye physiology", + "abnormal behavior", + "Abnormality of the ear", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "Hearing impairment", + "decreased size of the multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Abnormality of body height", + "Abnormality of connective tissue", + "abnormality of musculoskeletal system physiology", + "3-D shape anatomical entity", + "concave 3-D shape anatomical entity", + "abnormal renal collecting system", + "abnormality of anatomical entity height", + "Duplicated collecting system", + "Abnormal renal collecting system morphology", + "Neoplasm", + "Neoplasm by anatomical site", + "Abnormal eyelid morphology", + "Abnormal heart morphology", + "Hypopigmented macule", + "Abnormal cardiac septum morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal heart morphology", + "abnormal cardiac septum morphology", + "Vascular skin abnormality", + "Abnormal cardiovascular system physiology", + "3-D shape anatomical entity in independent continuant", + "Bruising susceptibility", + "abnormal blood circulation", + "Subcutaneous hemorrhage", + "Internal hemorrhage", + "abnormal vasculature", + "Bone marrow hypocellularity", + "Flexion contracture", + "Duplication of bones involving the upper extremities", + "shape kidney", + "Duplication of phalanx of hand", + "Duplication of thumb phalanx", + "Abnormal long bone morphology", + "abnormal phalanx morphology", + "Duplication of hand bones", + "Complete duplication of thumb phalanx", + "Abnormality of thumb phalanx", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "abnormality of anatomical entity mass", + "Abnormality of body weight", + "Decreased anatomical entity mass", + "Small for gestational age", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "U-shaped anatomical entity", + "Abnormal eye morphology", + "Abnormality of the orbital region", + "Abnormal reticulocyte morphology", + "abnormal number of anatomical enitites of type reticulocyte", + "abnormal cardiovascular system", + "delayed growth", + "delayed biological_process", + "Growth delay", + "decreased embryo development", + "abnormal embryo development", + "decreased length of manual digit 1", + "decreased length of anatomical entity in independent continuant", + "Short digit", + "Abnormality of joint mobility", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "Abnormal ventricular septum morphology", + "decreased size of the anatomical entity in the independent continuant", + "decreased size of the anatomical entity", + "decreased height of the anatomical entity", + "Abnormality of the face", + "abnormal face morphology", + "abnormal face", + "Abnormal facial shape", + "Pancytopenia", + "increased anatomical entity length in independent continuant", + "abnormally decreased number of platelet", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal platelet", + "abnormal blood cell morphology", + "Abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal platelet morphology", + "abnormal bone marrow cell morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal response to stress", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal external male genitalia", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "decreased length of anatomical entity", + "absent sperm in the semen", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "absent sperm in the independent continuant", + "abnormality of internal male genitalia physiology", + "Decreased body weight", + "decreased qualitatively developmental process", + "absent gamete", + "abnormality of camera-type eye physiology", + "Reticulocytopenia", + "abnormal gamete", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system morphology", + "abnormal testis morphology", + "abnormal eyelid morphology", + "Abnormal internal genitalia", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "Azoospermia", + "Abnormality of the male genitalia", + "abnormal multicellular organismal reproductive process", + "Generalized abnormality of skin", + "abnormal internal genitalia", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormal upper limb bone morphology", + "Abnormal ocular adnexa morphology", + "abnormal forelimb zeugopod bone", + "absent radius bone in the independent continuant", + "absent radius bone", + "abnormal ocular adnexa morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "Aplasia/hypoplasia involving forearm bones", + "abnormal manual digit morphology in the independent continuant", + "Strabismus", + "absent kidney", + "absent anatomical entity in the independent continuant", + "Epicanthus", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal axial skeleton morphology", + "aplasia or hypoplasia of manual digit", + "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "Puberty and gonadal disorders", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormality of the cell cycle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of limb bone", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "2-D shape anatomical entity", + "Abnormality of limb bone morphology", + "Joint contracture", + "Abnormality of limbs", + "decreased multicellular organism mass", + "Vertebral wedging", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "absent anatomical entity", + "abnormal sensory perception", + "abnormal manus", + "abnormal eye movement", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "Abnormal neutrophil count", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "agenesis of anatomical entity", + "cuneate vertebra", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "U-shaped kidney", + "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of blood and blood-forming tissues", + "Aplasia/Hypoplasia of the thumb", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal bleeding", + "Renal hypoplasia/aplasia", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "Complete duplication of phalanx of hand", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal appendicular skeleton morphology", + "Thrombocytopenia", + "abnormal developmental process involved in reproduction", + "Abnormality of the immune system", + "abnormally localised anatomical entity", + "decreased spermatogenesis", + "abnormal kidney morphology", + "Abnormality of the genital system", + "abnormal arm", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "Abnormal leukocyte count", + "increased length of the anatomical entity", + "Abnormality of eye movement", + "Abnormality of the urinary system", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormally localised anatomical entity in independent continuant", + "Abnormal tendon morphology", + "abnormally decreased functionality of the gonad", + "abnormal cardiac ventricle morphology in the heart", + "Abnormal cell morphology", + "phenotype", + "absent digit", + "abnormally localised kidney", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal limb", + "Abnormality of the eye", + "abnormal upper urinary tract", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "changed embryo development rate", + "Intrauterine growth retardation", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the limb", + "abnormally decreased number of neutrophil", + "Abnormality of the ocular adnexa", + "Abnormality of the skeletal system", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "abnormal forebrain morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "Aplasia/Hypoplasia of fingers", + "abnormal response to stimulus", + "abnormal skull morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "abnormal genitourinary system", + "Abnormality of the upper urinary tract", + "increased length of the epicanthal fold", + "shape anatomical entity in independent continuant", + "abnormal renal system", + "abnormal cardiac ventricle morphology", + "abnormal vertebral column morphology", + "Triangular face", + "abnormal anatomical entity topology in independent continuant", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "quality", + "phenotype by ontology source", + "abnormal renal system morphology", + "decreased sensory perception of sound", + "abnormal skin of body morphology", + "abnormal tendon morphology", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal granulocyte morphology", + "abnormal size of multicellular organism", + "abnormal opening of the anatomical entity", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "abnormal radius bone morphology", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "abnormal anatomical entity morphology in the appendage girdle complex", + "Chromosomal breakage induced by crosslinking agents", + "abnormal vertebra morphology", + "Abnormal cellular phenotype", + "Ectopic kidney", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormality of DNA repair", + "abnormally decreased number of cell", + "abnormal cell", + "abnormal neutrophil", + "Abnormality of the skin", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "Abnormality of skull size", + "Hematological neoplasm", + "Abnormality of the hand", + "abnormal incomplete closing of the interventricular septum", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "aplasia or hypoplasia of manual digit 1", + "Leukemia", + "entity", + "2-D shape anatomical entity in independent continuant", + "Finger aplasia", + "continuant", + "shape vertebra", + "Abnormality of brain morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal immune system", + "Abnormal vertebral morphology", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "abnormal manus morphology", + "Abnormality of the musculature", + "abnormal development of anatomical entity", + "abnormal digit", + "Microphthalmia", + "abnormal skeletal system", + "Abnormal joint physiology", + "Irregular hyperpigmentation", + "abnormal connective tissue", + "abnormal limb bone morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Abnormal nervous system physiology", + "Prolonged G2 phase of cell cycle", + "abnormal cell cycle", + "abnormality of anatomical entity physiology", + "Abnormality of globe size", + "Non-obstructive azoospermia", + "Intellectual disability", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal cardiovascular system morphology", + "abnormal phalanx of manus morphology", + "Abnormality of mental function", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "Neurodevelopmental abnormality", + "abnormal male reproductive system", + "Cognitive impairment", + "Abnormality of the nervous system", + "absent germ cell", + "changed biological_process rate", + "increased biological_process in skin of body", + "decreased length of tendon", + "abnormal biological_process in independent continuant", + "abnormal vertebral column", + "abnormal shape of vertebra", + "triangular anatomical entity in independent continuant", + "abnormal musculature", + "abnormal nervous system", + "cuneate anatomical entity", + "abnormally decreased number of leukocyte in the independent continuant", + "Anterior wedging of T12", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "Abnormal granulocyte count", + "triangular anatomical entity", + "shape anatomical entity", + "Abnormal form of the vertebral bodies", + "Abnormality of thrombocytes", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "abnormal anatomical entity morphology in the brain", + "increased size of the anatomical entity", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "abnormal DNA damage response", + "abnormal head morphology", + "abnormal gamete generation", + "Abnormality of neutrophils", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skull morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Morphological central nervous system abnormality", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "Abnormality of head or neck", + "abnormal reproductive system", + "abnormal cell morphology", + "abnormal nervous system morphology", + "abnormal anatomical entity morphology in the heart", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "decreased anatomical entity mass", + "abnormal long bone morphology", + "Abnormality of the head", + "abnormal bone marrow cell", + "Anemia", + "decreased size of the eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "increased pigmentation in skin of body", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal biological_process", + "abnormal bony vertebral centrum morphology", + "abnormal integument", + "Abnormality of the vertebral column", + "Macule", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "increased qualitatively biological_process in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormal cardiac ventricle morphology", + "Cafe-au-lait spot", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "increased biological_process in independent continuant", + "Hyperpigmentation of the skin", + "abnormal interventricular septum morphology", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Ventricular septal defect", + "Abnormality of blood circulation", + "abnormally decreased number of reticulocyte", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "abnormal enucleated reticulocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "Abnormality of reproductive system physiology", + "Abnormal musculoskeletal physiology", + "abnormal craniocervical region morphology", + "anatomical entity dysfunction in independent continuant", + "Horseshoe kidney", + "absent sperm", + "abnormality of reproductive system physiology", + "Hypogonadism", + "Anemic pallor", + "aplasia or hypoplasia of radius bone", + "Abnormal erythrocyte morphology", + "abnormal orbital region", + "Growth abnormality", + "Abnormal localization of kidney", + "Pallor", + "absent kidney in the independent continuant", + "abnormal DNA repair", + "decreased qualitatively sensory perception of sound", + "abnormality of cardiovascular system physiology", + "Abnormality of the upper limb", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "Renal agenesis", + "Absent radius", + "Aplasia/Hypoplasia of the radius", + "absent radius bone in the forelimb", + "absent anatomical entity in the skeletal system", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "increased qualitatively biological_process", + "All", + "Aplasia involving bones of the extremities", + "Abnormality of the vasculature", + "aplastic forelimb zeugopod bone", + ], + }, + { + "id": "MONDO:0010953", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group E", + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "provided_by": "phenio_nodes", + "synonym": [ + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000086", + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0000252", + "HP:0001627", + "HP:0000957", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0001263", + "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0000953", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085", + ], + "has_phenotype_label": [ + "Ectopic kidney", + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Microcephaly", + "Abnormal heart morphology", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bruising susceptibility", + "Hyperpigmentation of the skin", + "Anemia", + "Leukemia", + "Duplicated collecting system", + "Short stature", + "Strabismus", + "Hearing impairment", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney", + ], + "has_phenotype_count": 32, + "has_phenotype_closure": [ + "UPHENO:0082129", + "UPHENO:0041821", + "UPHENO:0049964", + "HP:0003254", + "UPHENO:0049671", + "UPHENO:0051124", + "UPHENO:0049952", + "HP:0003214", + "HP:0000365", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0050620", + "UPHENO:0080585", + "HP:0012373", + "HP:0000549", + "UPHENO:0079828", + "UPHENO:0049586", + "UPHENO:0000543", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0052970", + "UPHENO:0075787", + "UPHENO:0080351", + "HP:0004742", + "HP:0011793", + "UPHENO:0080581", + "HP:0011028", + "HP:0000978", + "HP:0003213", + "UPHENO:0051097", + "HP:0011025", + "UPHENO:0082444", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "HP:0009998", + "HP:0011018", + "HP:0011314", + "HP:0004275", + "UPHENO:0084447", + "HP:0011017", + "HP:0002664", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "HP:0004377", + "UPHENO:0050845", + "UPHENO:0049990", + "UPHENO:0049748", + "HP:0003220", + "HP:0001263", + "HP:0002597", + "UPHENO:0049874", + "HP:0004325", + "HP:0004323", + "UPHENO:0054299", + "UPHENO:0010763", + "HP:0001507", + "HP:0001518", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0100887", + "HP:0000478", + "HP:0000271", + "HP:0000568", + "HP:0012372", + "UPHENO:0002910", + "HP:0000002", + "UPHENO:0069523", + "UPHENO:0003020", + "HP:0004312", + "UPHENO:0085263", + "HP:0001896", + "UPHENO:0012541", + "HP:0009381", + "UPHENO:0031839", + "UPHENO:0046411", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0046624", + "UPHENO:0068971", + "HP:0000496", + "UPHENO:0087472", + "UPHENO:0046707", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "HP:0002818", + "UPHENO:0076718", + "HP:0002973", + "HP:0040072", + "HP:0031704", + "HP:0040070", + "UPHENO:0080187", + "HP:0000085", + "HP:0003953", + "UPHENO:0025945", + "HP:0006503", + "UPHENO:0081511", + "UPHENO:0087510", + "UPHENO:0009341", + "UPHENO:0087501", + "UPHENO:0002597", + "UPHENO:0053298", + "UPHENO:0005597", + "UPHENO:0050101", + "HP:0009825", + "HP:0012874", + "HP:0000812", + "HP:0000811", + "HP:0000028", + "UPHENO:0041226", + "UPHENO:0086023", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0078452", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0021474", + "UPHENO:0002595", + "HP:0009943", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0041629", + "UPHENO:0080382", + "HP:0001510", + "UPHENO:0086201", + "UPHENO:0002598", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0020950", + "UPHENO:0021800", + "UPHENO:0085874", + "HP:0008056", + "HP:0000025", + "HP:0005922", + "UPHENO:0084766", + "HP:0009601", + "HP:0100542", + "UPHENO:0041075", + "UPHENO:0050108", + "UPHENO:0085144", + "UPHENO:0088148", + "UPHENO:0084761", + "UPHENO:0081566", + 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"HP:0001017", + "UPHENO:0011498", + "UPHENO:0026181", + "UPHENO:0084987", + "HP:0002715", + "UPHENO:0008593", + "UPHENO:0053580", + "UPHENO:0079876", + "HP:0006265", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0000079", + "HP:0012638", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0076723", + "UPHENO:0085984", + "HP:0020047", + "HP:0011893", + "UPHENO:0087355", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0045060", + "UPHENO:0085076", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0000951", + "HP:0012210", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0081423", + "UPHENO:0080325", + "UPHENO:0002642", + "HP:0001627", + "UPHENO:0076740", + "UPHENO:0015280", + "HP:0000001", + "HP:0007400", + "HP:0001892", + "HP:0000315", + "UPHENO:0021561", + "UPHENO:0085189", + "UPHENO:0080200", + "UPHENO:0085371", + "HP:0025354", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0002240", + "UPHENO:0052178", + "HP:0008678", + "HP:0000486", + "HP:0001172", + "HP:0000118", + "HP:0009997", + "HP:0011446", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049940", + "HP:0010935", + "UPHENO:0002764", + "UPHENO:0085405", + "UPHENO:0008523", + "UPHENO:0087518", + "UPHENO:0050008", + "UPHENO:0002903", + "HP:0011875", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0081755", + "HP:0000086", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0011961", + "UPHENO:0087006", + "UPHENO:0075219", + "UPHENO:0077426", + "UPHENO:0088335", + "HP:0003974", + "UPHENO:0076703", + "HP:0001875", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0002406", + "UPHENO:0074584", + "HP:0009778", + "HP:0006496", + "UPHENO:0002371", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0054261", + "UPHENO:0001003", + "HP:0001881", + "UPHENO:0075902", + "HP:0002060", + "UPHENO:0082794", + "UPHENO:0026506", + "HP:0032309", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0080362", + "UPHENO:0002948", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0085330", + "UPHENO:0049622", + "UPHENO:0086016", + "UPHENO:0006910", + "HP:0009602", + "UPHENO:0085070", + "HP:0010974", + "HP:0012443", + "UPHENO:0053588", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0085042", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0032251", + "UPHENO:0054957", + "UPHENO:0004459", + "UPHENO:0000541", + "HP:0001874", + "HP:0025461", + "UPHENO:0076805", + "HP:0001155", + "HP:0002817", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0049700", + "HP:0001911", + "HP:0005927", + "HP:0011029", + "HP:0000818", + "UPHENO:0086045", + "UPHENO:0076727", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0086019", + "UPHENO:0086700", + "HP:0004322", + "HP:0001249", + "HP:0100543", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0012759", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0002433", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0076702", + "UPHENO:0001005", + "HP:0040195", + "UPHENO:0075195", + "HP:0009121", + "HP:0002977", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0050625", + "HP:0010461", + "HP:0000929", + "HP:0000240", + "HP:0000078", + "HP:0012145", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0026980", + "UPHENO:0075997", + "UPHENO:0020888", + "UPHENO:0086002", + "HP:0000252", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080126", + "UPHENO:0076799", + "HP:0001626", + "UPHENO:0085356", + "UPHENO:0076810", + "HP:0030680", + "UPHENO:0086173", + "UPHENO:0076776", + "UPHENO:0002219", + "HP:0009823", + "HP:0000957", + "HP:0001873", + "HP:0001034", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0001876", + "HP:0002011", + "UPHENO:0074575", + "HP:0012758", + "UPHENO:0009399", + "UPHENO:0025211", + "UPHENO:0050121", + "UPHENO:0074572", + "HP:0001574", + "UPHENO:0080377", + "UPHENO:0054970", + "UPHENO:0085875", + "HP:0011355", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0087547", + "UPHENO:0001001", + "UPHENO:0088170", + "UPHENO:0082682", + "UPHENO:0003811", + "UPHENO:0080221", + "UPHENO:0002635", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0025100", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0024906", + "UPHENO:0087369", + "UPHENO:0085195", + "HP:0000135", + "HP:0000815", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "HP:0000080", + "HP:0008373", + "UPHENO:0066972", + "UPHENO:0050113", + "HP:0000104", + "UPHENO:0088176", + "HP:0001903", + "HP:0001877", + "HP:0000980", + "HP:0000953", + "UPHENO:0088162", + "HP:0012130", + "UPHENO:0087339", + "HP:0011873", + "UPHENO:0086049", + "UPHENO:0085302", + "UPHENO:0049985", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0078729", + "UPHENO:0026128", + "HP:0000119", + "HP:0000152", + "UPHENO:0005016", + "UPHENO:0005651", + ], + "has_phenotype_closure_label": [ + "3-D shape anatomical entity", + "shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal cellular response to stress", + "Abnormality of the ear", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "Hearing impairment", + "Atypical behavior", + "abnormal behavior process", + "Abnormal conjugate eye movement", + "Abnormal eye physiology", + "abnormal behavior", + "decreased size of the multicellular organism", + "delayed biological_process", + "Growth delay", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Abnormality of body height", + "abnormal renal collecting system", + "abnormality of anatomical entity height", + "Duplicated collecting system", + "Abnormal renal collecting system morphology", + "Neoplasm", + "Neoplasm by anatomical site", + "Vascular skin abnormality", + "Abnormal cardiovascular system physiology", + "3-D shape anatomical entity in independent continuant", + "Bruising susceptibility", + "abnormal blood circulation", + "Subcutaneous hemorrhage", + "Internal hemorrhage", + "abnormal vasculature", + "Duplication of bones involving the upper extremities", + "shape kidney", + "Duplication of phalanx of hand", + "Duplication of thumb phalanx", + "Abnormal long bone morphology", + "abnormal phalanx morphology", + "Duplication of hand bones", + "Complete duplication of thumb phalanx", + "Abnormality of thumb phalanx", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "Chromosomal breakage induced by crosslinking agents", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "Neurodevelopmental delay", + "abnormality of anatomical entity mass", + "Abnormality of body weight", + "Decreased anatomical entity mass", + "Small for gestational age", + "decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "decreased height of the anatomical entity", + "Abnormality of the face", + "abnormal face morphology", + "U-shaped anatomical entity", + "Abnormal eye morphology", + "Abnormality of the orbital region", + "abnormal face", + "Abnormal reticulocyte morphology", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased length of manual digit 1", + "decreased length of anatomical entity in independent continuant", + "Short digit", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "decreased size of the anatomical entity in the independent continuant", + "decreased size of the anatomical entity", + "Abnormal upper limb bone morphology", + "abnormal forelimb zeugopod bone", + "absent radius bone in the independent continuant", + "absent radius bone", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "Aplasia/hypoplasia involving forearm bones", + "Abnormality of the vasculature", + "aplastic forelimb zeugopod bone", + "decreased anatomical entity mass", + "abnormal long bone morphology", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "absent anatomical entity in the skeletal system", + "absent radius bone in the forelimb", + "Abnormality of the cell cycle", + "Global developmental delay", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the radius", + "abnormal radius bone morphology", + "Absent radius", + "abnormal response to stress", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal external male genitalia", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "decreased length of anatomical entity", + "absent sperm in the semen", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "absent sperm in the independent continuant", + "abnormality of internal male genitalia physiology", + "Decreased body weight", + "decreased qualitatively developmental process", + "absent gamete", + "abnormality of camera-type eye physiology", + "Reticulocytopenia", + "abnormal gamete", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system morphology", + "abnormal manual digit morphology in the independent continuant", + "Strabismus", + "absent kidney", + "absent anatomical entity in the independent continuant", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal axial skeleton morphology", + "aplasia or hypoplasia of manual digit", + "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "Puberty and gonadal disorders", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormality of limb bone", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "absent anatomical entity", + "abnormal sensory perception", + "abnormal manus", + "abnormal eye movement", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "Abnormal neutrophil count", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "agenesis of anatomical entity", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "U-shaped kidney", + "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of blood and blood-forming tissues", + "Aplasia/Hypoplasia of the thumb", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal bleeding", + "Renal hypoplasia/aplasia", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "Complete duplication of phalanx of hand", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal appendicular skeleton morphology", + "abnormal developmental process involved in reproduction", + "Thrombocytopenia", + "Abnormality of the immune system", + "abnormally localised anatomical entity", + "decreased spermatogenesis", + "abnormal kidney morphology", + "Abnormality of the genital system", + "abnormal arm", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "Abnormal leukocyte count", + "abnormal multicellular organismal reproductive process", + "Abnormality of eye movement", + "Abnormality of the urinary system", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "abnormally localised anatomical entity in independent continuant", + "abnormally decreased functionality of the gonad", + "Abnormal cell morphology", + "phenotype", + "absent digit", + "abnormally localised kidney", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal limb", + "Abnormality of the eye", + "abnormal upper urinary tract", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the limb", + "abnormally decreased number of neutrophil", + "shape anatomical entity", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "Aplasia/Hypoplasia of fingers", + "abnormal response to stimulus", + "abnormal skull morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "Abnormal platelet morphology", + "abnormal genitourinary system", + "Abnormality of the upper urinary tract", + "abnormal renal system", + "abnormal anatomical entity topology in independent continuant", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "abnormal renal system morphology", + "decreased sensory perception of sound", + "abnormal skin of body morphology", + "abnormal growth", + "abnormal leukocyte morphology", + "Aplasia involving bones of the extremities", + "increased qualitatively biological_process", + "All", + "abnormal granulocyte morphology", + "abnormal size of multicellular organism", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "abnormal anatomical entity morphology in the appendage girdle complex", + "Abnormal cellular phenotype", + "Ectopic kidney", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormality of DNA repair", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal testis morphology", + "abnormal neutrophil", + "Abnormality of the skin", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormality of neutrophils", + "Abnormality of skull size", + "Hematological neoplasm", + "Abnormality of the hand", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "aplasia or hypoplasia of manual digit 1", + "Leukemia", + "entity", + "abnormally decreased number of leukocyte in the independent continuant", + "Finger aplasia", + "continuant", + "Azoospermia", + "Abnormality of brain morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal immune system", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "abnormal manus morphology", + "abnormal digit", + "Microphthalmia", + "abnormal skeletal system", + "Irregular hyperpigmentation", + "abnormal limb bone morphology", + "abnormal testis morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Abnormal nervous system physiology", + "Prolonged G2 phase of cell cycle", + "abnormal cell cycle", + "abnormality of anatomical entity physiology", + "Abnormality of globe size", + "Non-obstructive azoospermia", + "Intellectual disability", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "Neurodevelopmental abnormality", + "Abnormal heart morphology", + "abnormal male reproductive system", + "Cognitive impairment", + "Abnormality of the nervous system", + "abnormal biological_process in independent continuant", + "abnormal anatomical entity morphology in the brain", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "Abnormal internal genitalia", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "abnormal DNA damage response", + "abnormal head morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Aplasia involving forearm bones", + "Abnormality of skin pigmentation", + "Abnormal skull morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Morphological central nervous system abnormality", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "Abnormality of head or neck", + "abnormal reproductive system", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "Abnormality of the head", + "abnormal phalanx of manus morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Hyperpigmentation of the skin", + "abnormal heart morphology", + "delayed growth", + "abnormal cardiovascular system", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "abnormal skin of body", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormality of cardiovascular system morphology", + "decreased size of the eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "increased pigmentation in skin of body", + "abnormal biological_process", + "abnormal integument", + "Macule", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "increased qualitatively biological_process in independent continuant", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Localized skin lesion", + "abnormal platelet", + "Cafe-au-lait spot", + "abnormal location of anatomical entity", + "abnormal bone marrow morphology", + "Hypermelanotic macule", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "increased biological_process in independent continuant", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormality of blood circulation", + "abnormally decreased number of reticulocyte", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "Pancytopenia", + "abnormal enucleated reticulocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "Abnormality of reproductive system physiology", + "abnormal craniocervical region morphology", + "anatomical entity dysfunction in independent continuant", + "Horseshoe kidney", + "absent sperm", + "abnormality of reproductive system physiology", + "Hypogonadism", + "absent kidney in the independent continuant", + "Growth abnormality", + "abnormal orbital region", + "Abnormal localization of kidney", + "Pallor", + "abnormal DNA repair", + "decreased qualitatively sensory perception of sound", + "abnormality of cardiovascular system physiology", + "Abnormality of the upper limb", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "Renal agenesis", + "Anemic pallor", + "aplasia or hypoplasia of radius bone", + "Abnormal erythrocyte morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "abnormal bone marrow cell morphology", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "Anemia", + "abnormal bone marrow cell", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Generalized abnormality of skin", + "abnormal internal genitalia", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + ], + }, + { + "id": "MONDO:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "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", + "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:0009777", + "HP:0001627", + "HP:0002023", + "HP:0002984", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0001245", + "HP:0003774", + "HP:0025023", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Absent thumb", + "Abnormal heart morphology", + "Anal atresia", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia", + ], + "has_phenotype_count": 15, + "has_phenotype_closure": [ + "HP:0012732", + "HP:0002034", + "UPHENO:0087346", + "UPHENO:0002714", + "UPHENO:0076773", + "UPHENO:0076783", + "HP:0012718", + "UPHENO:0076735", + "HP:0002589", + "UPHENO:0002725", + "HP:0011100", + "HP:0025023", + "UPHENO:0063629", + "HP:0002250", + "HP:0011024", + "HP:0012211", + "HP:0011277", + "HP:0003774", + "UPHENO:0002411", + "UPHENO:0088142", + "UPHENO:0002655", + "UPHENO:0002442", + "UPHENO:0081433", + "UPHENO:0081341", + "HP:0009127", + "HP:0003011", + "UPHENO:0063632", + "HP:0001227", + "HP:0001421", + "UPHENO:0049874", + "UPHENO:0069254", + "UPHENO:0000543", + "HP:0009826", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0087510", + "UPHENO:0081313", + "UPHENO:0087501", + "UPHENO:0086172", + "HP:0009115", + "UPHENO:0076803", + "HP:0025031", + "HP:0001510", + "UPHENO:0086201", + "HP:0000811", + "UPHENO:0074228", + "UPHENO:0001005", + "UPHENO:0002597", + "HP:0011793", + "UPHENO:0076776", + "HP:0006503", + "UPHENO:0063599", + "UPHENO:0063565", + "HP:0011017", + "UPHENO:0002839", + "BFO:0000002", + "UPHENO:0053298", + "HP:0004322", + "UPHENO:0002833", + "UPHENO:0080099", + "HP:0030680", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0046411", + "UPHENO:0080351", + "UPHENO:0002964", + "UPHENO:0005016", + "HP:0000119", + "HP:0005773", + "HP:0001155", + "UPHENO:0077426", + "UPHENO:0084771", + "HP:0005922", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0084766", + "UPHENO:0021561", + "HP:0009821", + "HP:0025354", + "UPHENO:0080126", + "UPHENO:0076810", + "HP:0011844", + "UPHENO:0080079", + "HP:0009601", + "HP:0001507", + "UPHENO:0076703", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0008523", + "UPHENO:0006910", + "UPHENO:0002649", + "UPHENO:0084761", + "HP:0003026", + "HP:0009824", + "UPHENO:0084448", + "UPHENO:0086700", + "UPHENO:0081204", + "HP:0001245", + "HP:0004378", + "HP:0000001", + "UPHENO:0002896", + "UPHENO:0084829", + "HP:0001939", + "UPHENO:0001003", + "UPHENO:0012274", + "UPHENO:0086644", + "HP:0011314", + "UPHENO:0050121", + "UPHENO:0085875", + "HP:0009603", + "UPHENO:0046538", + "HP:0001167", + "HP:0040064", + "UPHENO:0076779", + "UPHENO:0050116", + "UPHENO:0049367", + "UPHENO:0068971", + "UPHENO:0078452", + "UPHENO:0001002", + "UPHENO:0080362", + "HP:0011297", + "HP:0001626", + "HP:0003220", + "UPHENO:0011498", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", + "UPHENO:0050113", + "HP:0034058", + "UPHENO:0086128", + "UPHENO:0049587", + "HP:0006501", + "UPHENO:0002708", + "HP:0000032", + "UPHENO:0087547", + "UPHENO:0001001", + "HP:0001197", + "UPHENO:0050021", + "HP:0045060", + "HP:0034915", + "UPHENO:0002830", + "UPHENO:0086682", + "HP:0025033", + "UPHENO:0050845", + "BFO:0000020", + "UPHENO:0081466", + "HP:0040012", + "HP:0000028", + "UPHENO:0049748", + "UPHENO:0076723", + "UPHENO:0002647", + "UPHENO:0049873", + "HP:0000083", + "UPHENO:0026506", + "HP:0000027", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0002984", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0080352", + "UPHENO:0026181", + "HP:0003241", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0076727", + "HP:0006265", + "HP:0011425", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0002595", + "UPHENO:0003055", + "HP:0011805", + "HP:0009777", + "UPHENO:0026183", + "HP:0040068", + "HP:0040070", + "UPHENO:0009382", + "UPHENO:0049990", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0088186", + "HP:0009815", + "HP:0000924", + "UPHENO:0079876", + "UPHENO:0063639", + "UPHENO:0002816", + "UPHENO:0053580", + "HP:0001172", + "HP:0000118", + "HP:0011842", + "UPHENO:0075696", + "UPHENO:0081790", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0080187", + "HP:0000812", + "HP:0040072", + "UPHENO:0081451", + "UPHENO:0087349", + "HP:0000002", + "UPHENO:0020041", + "UPHENO:0086198", + "HP:0002242", + "UPHENO:0076710", + "UPHENO:0081091", + "HP:0002973", + "UPHENO:0085874", + "UPHENO:0069294", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0076718", + "UPHENO:0075902", + "UPHENO:0046624", + "HP:0002023", + "HP:0002818", + "BFO:0000001", + "UPHENO:0002371", + "UPHENO:0086956", + "UPHENO:0002751", + "UPHENO:0079872", + "UPHENO:0012541", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0049940", + "HP:0010935", + "HP:0010944", + "UPHENO:0001072", + "UPHENO:0005651", + "UPHENO:0084132", + "UPHENO:0084124", + "HP:0008669", + "HP:0012210", + "UPHENO:0065599", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0084834", + "HP:0010945", + "UPHENO:0080377", + "HP:0034242", + "UPHENO:0053644", + "UPHENO:0002786", + "UPHENO:0075893", + "HP:0000079", + "UPHENO:0001478", + "UPHENO:0002598", + "UPHENO:0081792", + "HP:0000126", + "UPHENO:0005597", + "UPHENO:0085194", + "HP:0004097", + "HP:0000025", + "UPHENO:0020950", + "HP:0010461", + "HP:0009380", + "UPHENO:0002378", + "HP:0100871", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0010946", + "UPHENO:0080382", + "HP:0012243", + "UPHENO:0087846", + "UPHENO:0075949", + "HP:0012874", + "UPHENO:0049970", + "UPHENO:0049701", + "UPHENO:0078729", + "UPHENO:0049985", + "UPHENO:0080369", + "UPHENO:0086023", + "UPHENO:0052178", + "UPHENO:0087802", + "UPHENO:0085873", + "UPHENO:0081755", + "UPHENO:0087006", + "HP:0011961", + "UPHENO:0050101", + "UPHENO:0082875", + "UPHENO:0046707", + "HP:0000080", + "UPHENO:0087973", + "HP:0000035", + "HP:0012622", + "HP:0000078", + "HP:0006496", + "HP:0009778", + "HP:0009623", + "UPHENO:0050108", + "HP:0000107", + "HP:0001446", + "UPHENO:0084841", + "HP:0009484", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081423", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0000541", + ], + "has_phenotype_closure_label": [ + "Abnormal intestine morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal rectum", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormality of the gastrointestinal tract", + "Rectal atresia", + "Anorectal anomaly", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "Morphological abnormality of the gastrointestinal tract", + "rectum atresia", + "alimentary part of gastrointestinal system atresia", + "Chronic kidney disease", + "Renal insufficiency", + "Intestinal atresia", + "non-functional kidney", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "abnormality of kidney physiology", + "Small thenar eminence", + "abnormal musculature of limb", + "Abnormality of the musculature of the upper limbs", + "Abnormal palm morphology", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "Abnormality of the musculature of the hand", + "abnormal musculature", + "Abnormality of the thenar eminence", + "Abnormality of the musculature of the limbs", + "bone element hypoplasia in independent continuant", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal long bone morphology", + "abnormal radius bone morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "abnormal renal system", + "Abnormality of the anus", + "abnormally dilated renal pelvis", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormal heart morphology", + "radius bone hypoplasia", + "abnormal spatial pattern of anatomical entity", + "abnormal heart morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "absent anatomical entity in the limb", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormality of the musculature", + "abnormal digit", + "abnormal organelle organization", + "Anal atresia", + "Neoplasm", + "Cryptorchidism", + "abnormal manual digit morphology in the independent continuant", + "anatomical entity hypoplasia", + "aplasia or hypoplasia of skeleton", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of digestive system morphology", + "abnormal limb", + "anus atresia", + "Dilatation of the renal pelvis", + "Abnormality of the kidney", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "Abnormal anus morphology", + "abnormally localised anatomical entity", + "abnormal appendicular skeleton morphology", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Limb undergrowth", + "agenesis of anatomical entity", + "decreased developmental process", + "All", + "Abnormal upper limb bone morphology", + "intestine atresia", + "Proximal placement of thumb", + "abnormal digit morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "increased size of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "Renal cyst", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormality of renal system physiology", + "quality", + "Abnormal renal pelvis morphology", + "decreased length of long bone", + "Abnormality of prenatal development or birth", + "abnormal spermatogenesis", + "phenotype", + "absent digit", + "abnormal male reproductive system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal thenar eminence", + "abnormal nitrogen compound metabolic process", + "abnormal internal genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal cellular process", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "absent anatomical entity in the multicellular organism", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "aplastic anatomical entity", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal anatomical entity morphology in the palmar part of manus", + "absent manual digit", + "abnormal phenotype by ontology source", + "deviation of manual digit", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal cellular physiology", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal cell", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "abnormal anus", + "Abnormal digit morphology", + "phenotype by ontology source", + "Abnormal thumb morphology", + "Abnormality of the male genitalia", + "deviation of manual digit 1", + "abnormal limb bone morphology", + "abnormal testis morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "absent anatomical entity", + "decreased length of manual digit", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "abnormal cardiovascular system morphology", + "abnormality of multicellular organism height", + "forelimb zeugopod bone hypoplasia", + "Abnormality of the hand", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "abnormal number of anatomical enitites of type anatomical entity", + "increased size of the anatomical entity", + "abnormal limb bone", + "absent gamete", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of fingers", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Abnormality of the musculoskeletal system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "Short long bone", + "decreased height of the multicellular organism", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "Abnormality of body height", + "abnormal digestive system morphology", + "abnormal musculature of upper limb", + "continuant", + "Azoospermia", + "Finger aplasia", + "abnormal intestine morphology", + "aplastic manual digit 1", + "decreased qualitatively reproductive process", + "anatomical entity hypoplasia in independent continuant", + "abnormally localised testis", + "Abnormal large intestine morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormality of limb bone", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Hydronephrosis", + "decreased length of anatomical entity", + "absent sperm in the semen", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal fetal morphology", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "non-functional anatomical entity", + "aplasia or hypoplasia of radius bone", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal gamete", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal size of anatomical entity", + "abnormal external genitalia", + "abnormal renal system morphology", + "Abnormal fetal genitourinary system morphology", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "Abnormality of chromosome stability", + "abnormal kidney", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "absent germ cell", + "changed biological_process rate", + "abnormal upper urinary tract", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abnormal renal pelvis morphology", + "abnormal genitourinary system", + "abnormal renal pelvis", + "Fetal pyelectasis", + "abnormal late embryo", + "Abnormality of the urinary system", + "Abnormality of the genital system", + "increased size of the renal pelvis", + "Fetal ultrasound soft marker", + "abnormal number of anatomical enitites of type cell", + "abnormal multicellular organismal reproductive process", + "abnormal reproductive process", + "Abnormal internal genitalia", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal reproductive system", + "abnormal anatomical entity topology in independent continuant", + "Growth delay", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "Abnormal external genitalia", + "abnormal developmental process involved in reproduction", + "abnormal anatomical entity morphology in the pectoral complex", + "Functional abnormality of male internal genitalia", + "Abnormality of reproductive system physiology", + "absent anatomical entity in the semen", + "Abnormality of male external genitalia", + "Phenotypic abnormality", + "abnormal reproductive system morphology", + "decreased qualitatively developmental process", + "abnormality of internal male genitalia physiology", + "abnormal male reproductive system", + "abnormal kidney morphology", + "decreased spermatogenesis", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "abnormally localised anatomical entity in independent continuant", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal number of anatomical enitites of type sperm", + "Non-obstructive azoospermia", + "abnormal male reproductive organ morphology", + "Fetal anomaly", + "abnormal external male genitalia", + "Short finger", + "thenar eminence hypoplasia", + "decreased length of digit", + "Deviation of finger", + "abnormal manual digit 1 morphology", + "Short thumb", + "Short digit", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "abnormal primary metabolic process", + "Deviation of the hand or of fingers of the hand", + "abnormal size of multicellular organism", + "decreased height of the anatomical entity", + "abnormality of anatomical entity height", + "Aplasia/hypoplasia of the extremities", + "decreased biological_process", + "Short stature", + "decreased size of the multicellular organism", + "abnormal growth", + "abnormal cardiovascular system", + "delayed growth", + ], + }, + { + "id": "MONDO:0013565", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group G", + "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "xref": ["DOID:0111086", "EFO:0009046", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "provided_by": "phenio_nodes", + "synonym": [ + "FANCG", + "Fanconi Anemia, complementation group type G", + "Fanconi anaemia complementation group type G", + "Fanconi anemia complementation group G", + "Fanconi anemia complementation group type G", + "Fanconi anemia, complementation group G", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001875", + "HP:0000252", + "HP:0002863", + "HP:0001510", + "HP:0001873", + "HP:0007565", + "HP:0000568", + "HP:0001172", + "HP:0001903", + "HP:0003220", + "HP:0001909", + ], + "has_phenotype_label": [ + "Neutropenia", + "Microcephaly", + "Myelodysplasia", + "Growth delay", + "Thrombocytopenia", + "Multiple cafe-au-lait spots", + "Microphthalmia", + "Abnormal thumb morphology", + "Anemia", + "Abnormality of chromosome stability", + "Leukemia", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "HP:0011017", + "HP:0003220", + "HP:0012130", + "UPHENO:0088162", + "HP:0001909", + "HP:0001877", + "HP:0001903", + "UPHENO:0086700", + "UPHENO:0002708", + "UPHENO:0076727", + "HP:0001155", + "UPHENO:0084766", + "HP:0001167", + "UPHENO:0086633", + "HP:0005922", + "UPHENO:0076740", + "UPHENO:0086635", + "UPHENO:0084448", + "UPHENO:0076723", + "UPHENO:0076724", + "HP:0040068", + "HP:0001172", + "UPHENO:0012541", + "UPHENO:0087924", + "HP:0100887", + "UPHENO:0075997", + "HP:0000315", + "HP:0012372", + "UPHENO:0068971", + "HP:0000271", + "UPHENO:0080209", + "UPHENO:0075219", + "UPHENO:0079876", + "UPHENO:0069523", + "UPHENO:0002905", + "HP:0012733", + "HP:0000953", + "UPHENO:0076739", + "UPHENO:0002635", + "UPHENO:0080221", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0060026", + "UPHENO:0088170", + "UPHENO:0059829", + "HP:0011355", + "UPHENO:0054970", + "UPHENO:0080377", + "HP:0001574", + "HP:0040064", + "UPHENO:0080662", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0008056", + "BFO:0000002", + "UPHENO:0085076", + "HP:0007565", + "UPHENO:0085984", + "UPHENO:0085371", + "HP:0025354", + "HP:0032251", + "UPHENO:0004459", + "HP:0020047", + "HP:0011893", + "UPHENO:0085330", + "UPHENO:0022529", + "UPHENO:0075220", + "BFO:0000001", + "UPHENO:0035025", + "UPHENO:0088321", + "HP:0001507", + "UPHENO:0085068", + "HP:0001939", + "UPHENO:0088335", + "UPHENO:0074575", + "HP:0000929", + "UPHENO:0002880", + "HP:0032309", + "HP:0002813", + "UPHENO:0020584", + "UPHENO:0076799", + "UPHENO:0006910", + "HP:0012639", + "UPHENO:0002910", + "UPHENO:0086045", + "UPHENO:0086016", + "UPHENO:0086049", + "UPHENO:0049874", + "UPHENO:0085356", + "UPHENO:0076702", + "UPHENO:0085302", + "UPHENO:0085344", + "HP:0001881", + "HP:0002817", + "HP:0000707", + "UPHENO:0088176", + "UPHENO:0002948", + "HP:0011793", + "UPHENO:0000541", + "UPHENO:0086005", + "UPHENO:0084763", + "UPHENO:0087518", + "HP:0100547", + "HP:0000118", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0085042", + "UPHENO:0004523", + "HP:0002715", + "HP:0011297", + "UPHENO:0087472", + "UPHENO:0085118", + "HP:0010974", + "HP:0012443", + "PATO:0000001", + "UPHENO:0087006", + "UPHENO:0077426", + "HP:0001875", + "HP:0011844", + "UPHENO:0086172", + "UPHENO:0001005", + "HP:0007400", + "HP:0000001", + "UPHENO:0086019", + "UPHENO:0011498", + "HP:0009121", + "UPHENO:0085354", + "UPHENO:0088166", + "UPHENO:0076703", + "UPHENO:0001003", + "UPHENO:0054957", + "UPHENO:0015280", + "UPHENO:0086176", + "HP:0000478", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0074589", + "HP:0011991", + "BFO:0000020", + "HP:0002664", + "UPHENO:0002536", + "HP:0040195", + "UPHENO:0075195", + "UPHENO:0086173", + "HP:0001000", + "UPHENO:0001001", + "UPHENO:0076791", + "HP:0007364", + "HP:0002977", + "UPHENO:0087907", + "HP:0001911", + "UPHENO:0002764", + "HP:0001874", + "UPHENO:0076805", + "HP:0033127", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0011842", + "HP:0000240", + "UPHENO:0002896", + "HP:0000951", + "UPHENO:0086589", + "UPHENO:0049587", + "UPHENO:0084987", + "HP:0002011", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0020888", + "HP:0002060", + "HP:0000568", + "HP:0000152", + "HP:0001871", + "UPHENO:0075696", + "UPHENO:0074584", + "HP:0010987", + "HP:0000924", + "UPHENO:0081435", + "UPHENO:0080079", + "HP:0001873", + "HP:0000252", + "UPHENO:0003020", + "UPHENO:0002964", + "UPHENO:0001002", + "UPHENO:0002844", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0080200", + "UPHENO:0084761", + "UPHENO:0021474", + "HP:0011121", + "UPHENO:0081566", + "HP:0002863", + "UPHENO:0000543", + "HP:0004377", + "HP:0001510", + "HP:0011873", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0050008", + "UPHENO:0085405", + "HP:0011875", + "HP:0000957", + "HP:0001034", + "UPHENO:0074572", + ], + "has_phenotype_closure_label": [ + "Abnormality of metabolism/homeostasis", + "Abnormal cellular physiology", + "Abnormal erythrocyte morphology", + "abnormal manual digit 1 morphology", + "abnormal limb bone morphology", + "abnormal digit", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "abnormal limb", + "abnormal arm", + "Abnormality of the hand", + "Abnormality of limb bone", + "Abnormal digit morphology", + "Abnormal finger morphology", + "Abnormal appendicular skeleton morphology", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "Abnormal hand morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal limb morphology", + "abnormal manual digit morphology in the manus", + "Abnormality of chromosome stability", + "abnormal manus", + "abnormal forelimb morphology", + "Abnormality of the face", + "Microphthalmia", + "abnormal autopod region morphology", + "abnormal camera-type eye morphology", + "abnormal anatomical entity morphology in the manus", + "Abnormal eye morphology", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "aplasia or hypoplasia of eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "abnormal face morphology", + "increased biological_process", + "abnormal pigmentation in independent continuant", + "Hyperpigmentation of the skin", + "increased biological_process in independent continuant", + "Hypermelanotic macule", + "abnormally decreased number of anatomical entity in the independent continuant", + "Neutropenia", + "abnormal head", + "Abnormality of the upper limb", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", + "abnormal erythrocyte morphology", + "abnormally decreased number of anatomical entity", + "Abnormality of the immune system", + "Abnormal leukocyte count", + "abnormal granulocyte morphology", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormally decreased number of myeloid cell", + "abnormal central nervous system morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the integument", + "aplasia or hypoplasia of anatomical entity", + "abnormal immune system", + "abnormal anatomical entity", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Abnormal cerebral morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of skull size", + "Abnormality of neutrophils", + "abnormally decreased number of cell in the independent continuant", + "phenotype", + "quality", + "decreased size of the eyeball of camera-type eye", + "Neoplasm by anatomical site", + "Abnormality of skin pigmentation", + "abnormal craniocervical region", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Growth abnormality", + "increased pigmentation in skin of body", + "Leukemia", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal head morphology", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "abnormal skin of body morphology", + "increased qualitatively biological_process", + "Abnormality of the skin", + "abnormal neutrophil", + "abnormal orbital region", + "Abnormal cell morphology", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "specifically dependent continuant", + "abnormal immune system morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "abnormal digit morphology", + "Thrombocytopenia", + "Abnormal forebrain morphology", + "Anemia", + "Abnormality of the head", + "abnormal phenotype by ontology source", + "abnormal growth", + "Abnormal cellular phenotype", + "Abnormal thumb morphology", + "phenotype by ontology source", + "Decreased head circumference", + "delayed growth", + "Abnormality of globe size", + "increased pigmentation", + "increased pigmentation in independent continuant", + "abnormal limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "increased qualitatively biological_process in independent continuant", + "abnormal leukocyte morphology", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal nervous system morphology", + "Cafe-au-lait spot", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic system", + "entity", + "Abnormality of blood and blood-forming tissues", + "abnormal cell morphology", + "abnormal size of skull", + "abnormal face", + "abnormally decreased number of hematopoietic cell", + "abnormal myeloid cell morphology", + "changed biological_process rate", + "abnormal forebrain morphology", + "Abnormal myeloid cell morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal neutrophil count", + "abnormal appendicular skeleton morphology", + "abnormal blood cell", + "All", + "continuant", + "abnormal craniocervical region morphology", + "abnormal size of eyeball of camera-type eye", + "Abnormal cellular immune system morphology", + "abnormal axial skeleton plus cranial skeleton morphology", + "Hematological neoplasm", + "abnormal anatomical entity morphology in the brain", + "aplasia or hypoplasia of telencephalon", + "Myelodysplasia", + "decreased size of the anatomical entity in the independent continuant", + "abnormal telencephalon morphology", + "Multiple cafe-au-lait spots", + "Abnormal leukocyte morphology", + "abnormal brain morphology", + "Abnormal skull morphology", + "Abnormality of the eye", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "Abnormality of head or neck", + "Morphological central nervous system abnormality", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "Aplasia/Hypoplasia affecting the eye", + "abnormal postcranial axial skeleton morphology", + "Neoplasm", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "decreased size of the anatomical entity", + "Abnormal granulocyte count", + "abnormally decreased number of neutrophil", + "Abnormality of the skeletal system", + "Irregular hyperpigmentation", + "abnormal skeletal system", + "abnormal biological_process in independent continuant", + "increased biological_process in skin of body", + "Abnormality of the nervous system", + "abnormal erythroid lineage cell morphology", + "abnormal skull morphology", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", + "abnormal integument", + "abnormal biological_process", + "Growth delay", + "delayed biological_process", + "Abnormality of thrombocytes", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet morphology", + "Abnormal platelet count", + "Localized skin lesion", + "abnormal platelet", + "Abnormality of skin morphology", + "Macule", + "abnormal pigmentation", + "abnormal skin of body", + ], + }, + { + "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:0009777", + "HP:0000252", + "HP:0002247", + "HP:0002984", + "HP:0002863", + "HP:0002119", + "HP:0001510", + "HP:0001511", + "HP:0001748", + "HP:0000824", + "HP:0002518", + "HP:0002308", + "HP:0031689", + "HP:0011800", + "HP:0000089", + "HP:0410049", + ], + "has_phenotype_label": [ + "Absent thumb", + "Microcephaly", + "Duodenal atresia", + "Hypoplasia of the radius", + "Myelodysplasia", + "Ventriculomegaly", + "Growth delay", + "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": [ + "HP:0000089", + "HP:0000079", + "HP:0012210", + "UPHENO:0081210", + "HP:0010935", + "HP:0000271", + "UPHENO:0081227", + "UPHENO:0081786", + "UPHENO:0087472", + "UPHENO:0002910", + "UPHENO:0087585", + "UPHENO:0088145", + "UPHENO:0084928", + "HP:0025354", + "UPHENO:0085195", + "HP:0012143", + "UPHENO:0076957", + "UPHENO:0072814", + "UPHENO:0071309", + "HP:0011282", + "UPHENO:0081601", + "HP:0001317", + "UPHENO:0086932", + "UPHENO:0087531", + "UPHENO:0021803", + "HP:0002518", + "HP:0002500", + "UPHENO:0076953", + "UPHENO:0073937", + "UPHENO:0074037", + "HP:0002438", + "HP:0002180", + "HP:0002352", + "UPHENO:0081547", + "HP:0003117", + "UPHENO:0076779", + "UPHENO:0077872", + "UPHENO:0087355", + "UPHENO:0051668", + "UPHENO:0076720", + "UPHENO:0082875", + "UPHENO:0042775", + "HP:0032367", + "UPHENO:0080221", + "UPHENO:0086735", + "UPHENO:0076287", + "UPHENO:0077889", + "HP:0011747", + "HP:0005927", + "HP:0000818", + "HP:0011793", + "UPHENO:0002833", + "UPHENO:0080099", + "HP:0007364", + "UPHENO:0081594", + "HP:0002589", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0002964", + "UPHENO:0008668", + "HP:0002246", + "UPHENO:0076735", + "UPHENO:0063629", + "UPHENO:0075182", + "HP:0002308", + "UPHENO:0081566", + "UPHENO:0084761", + "HP:0003026", + "UPHENO:0080200", + "UPHENO:0063565", + "UPHENO:0001002", + "UPHENO:0075220", + "UPHENO:0086172", + "HP:0000707", + "HP:0002984", + "HP:0002817", + "HP:0000252", + "UPHENO:0081435", + "HP:0000924", + "UPHENO:0076718", + "UPHENO:0004523", + "HP:0011283", + "UPHENO:0020888", + "HP:0000234", + "UPHENO:0081598", + "UPHENO:0002896", + "HP:0000929", + "HP:0011800", + "HP:0025461", + "UPHENO:0076805", + "HP:0100763", + "UPHENO:0001001", + "UPHENO:0075195", + "UPHENO:0063639", + "UPHENO:0002808", + "UPHENO:0022529", + "UPHENO:0086700", + "UPHENO:0080187", + "HP:0410049", + "UPHENO:0020584", + "HP:0002813", + "HP:0002977", + "HP:0025033", + "UPHENO:0026028", + "PATO:0000001", + "HP:0009380", + "UPHENO:0084763", + "UPHENO:0076702", + "UPHENO:0002708", + "UPHENO:0002764", + "UPHENO:0084448", + "HP:0009824", + "UPHENO:0087501", + "BFO:0000001", + "UPHENO:0076790", + "HP:0006496", + "UPHENO:0086621", + "UPHENO:0014240", + "HP:0000001", + "UPHENO:0002830", + "HP:0100547", + "UPHENO:0002880", + "HP:0002247", + "UPHENO:0080362", + "HP:0012503", + "UPHENO:0002725", + "HP:0000830", + "HP:0012443", + "UPHENO:0076783", + "UPHENO:0026181", + "UPHENO:0026506", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "HP:0011297", + "HP:0000119", + "HP:0000152", + "UPHENO:0076799", + "UPHENO:0080126", + "HP:0000118", + "HP:0001172", + "UPHENO:0083951", + "UPHENO:0076724", + "HP:0040075", + "UPHENO:0087006", + "HP:0009799", + "HP:0000240", + "UPHENO:0063569", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0002664", + "UPHENO:0076727", + "HP:0006265", + "UPHENO:0087089", + "UPHENO:0087123", + "UPHENO:0009382", + "HP:0040070", + "UPHENO:0075902", + "UPHENO:0081436", + "UPHENO:0086771", + "UPHENO:0084771", + "HP:0005922", + "HP:0031689", + "HP:0010662", + "HP:0009601", + "HP:0001507", + "UPHENO:0075774", + "UPHENO:0087902", + "HP:0045060", + "HP:0031072", + "UPHENO:0080220", + "UPHENO:0052778", + "UPHENO:0076723", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0076740", + "HP:0011024", + "UPHENO:0071344", + "UPHENO:0081466", + "UPHENO:0046540", + "HP:0011842", + "UPHENO:0075696", + "UPHENO:0081790", + "HP:0001871", + "HP:0040195", + "UPHENO:0001005", + "UPHENO:0074228", + "HP:0031073", + "HP:0011100", + "HP:0009121", + "HP:0009115", + "HP:0000864", + "UPHENO:0011498", + "HP:0009777", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0005652", + "UPHENO:0083689", + "UPHENO:0051804", + "UPHENO:0003116", + "BFO:0000002", + "HP:0012639", + "UPHENO:0006910", + "HP:0002011", + "UPHENO:0084766", + "UPHENO:0087518", + "UPHENO:0008523", + "HP:0005561", + "UPHENO:0083952", + "UPHENO:0002678", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0059874", + "HP:0040064", + "HP:0001167", + "HP:0011844", + "UPHENO:0080079", + "UPHENO:0080393", + "HP:0001155", + "HP:0025031", + "UPHENO:0076803", + "UPHENO:0012274", + "UPHENO:0069110", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0087907", + "HP:0006501", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0076293", + "HP:0009826", + "HP:0001748", + "UPHENO:0068971", + "UPHENO:0049724", + "UPHENO:0081204", + "HP:0009821", + "HP:0005773", + "UPHENO:0080114", + "UPHENO:0005433", + "UPHENO:0020013", + "HP:0006503", + "HP:0009815", + "UPHENO:0088186", + "UPHENO:0075175", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0004459", + "UPHENO:0076286", + "HP:0040072", + "HP:0002242", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "HP:0002973", + "HP:0010993", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", + "UPHENO:0012541", + "HP:0007367", + "HP:0002863", + "UPHENO:0081562", + "HP:0004377", + "UPHENO:0075772", + "HP:0001511", + "UPHENO:0000543", + "HP:0002118", + "HP:0001743", + "UPHENO:0065599", + "HP:0012718", + "UPHENO:0088047", + "UPHENO:0079876", + "HP:0002119", + "UPHENO:0001440", + "UPHENO:0000541", + "UPHENO:0005642", + "HP:0002244", + "HP:0001510", + "UPHENO:0002844", + "UPHENO:0049587", + "HP:0031071", + "UPHENO:0077890", + "HP:0002597", + "UPHENO:0049874", + "UPHENO:0056059", + "UPHENO:0080382", + "UPHENO:0080377", + "HP:0000309", + "UPHENO:0085144", + "UPHENO:0050108", + "UPHENO:0078743", + "HP:0008678", + "UPHENO:0052178", + "UPHENO:0081792", + "UPHENO:0005597", + "UPHENO:0046538", + "UPHENO:0050034", + "UPHENO:0050121", + "UPHENO:0002948", + "UPHENO:0087267", + "HP:0001626", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0087940", + "UPHENO:0087339", + "UPHENO:0002819", + "HP:0002012", + "UPHENO:0014335", + "HP:0002715", + "HP:0025408", + "UPHENO:0076289", + "UPHENO:0087376", + "UPHENO:0020041", + "UPHENO:0049647", + "HP:0002060", + "HP:0000824", + "UPHENO:0051763", + "UPHENO:0001072", + "UPHENO:0076812", + "UPHENO:0077887", + "UPHENO:0080588", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0087516", + "UPHENO:0081628", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0004618", + "UPHENO:0046284", + "UPHENO:0049927", + "UPHENO:0077873", + "UPHENO:0075995", + ], + "has_phenotype_closure_label": [ + "Abnormal radial ray morphology", + "Renal hypoplasia", + "abnormal kidney morphology", + "Abnormality of the urinary system", + "Abnormality of the upper urinary tract", + "Renal hypoplasia/aplasia", + "abnormal size of kidney", + "abnormal renal system", + "abnormal upper urinary tract", + "decreased size of the kidney", + "abnormal renal system morphology", + "Abnormality of the face", + "abnormal midface morphology", + "anatomical entity hypoplasia in face", + "abnormal face", + "abnormal bone marrow cell", + "Abnormal megakaryocyte morphology", + "Midface retrusion", + "abnormal bone marrow cell morphology", + "abnormal cell", + "abnormal megakaryocyte morphology", + "Megakaryocyte dysplasia", + "abnormal cerebellum morphology", + "abnormally formed anatomical entity in independent continuant", + "Abnormal hindbrain morphology", + "Cerebellar malformation", + "abnormally formed anatomical entity", + "Abnormal cerebellum morphology", + "abnormal cerebral hemisphere white matter morphology", + "Abnormal periventricular white matter morphology", + "Atrophy/Degeneration affecting the central nervous system", + "anatomical entity degeneration", + "Leukoencephalopathy", + "anatomical entity degeneration in independent continuant", + "cerebral hemisphere white matter degeneration", + "Abnormal cerebral white matter morphology", + "abnormal neuroendocrine gland morphology", + "abnormal role blood level", + "Abnormal growth hormone level", + "Abnormality of the kidney", + "decreased biological_process in pituitary gland", + "abnormal diencephalon morphology", + "abnormal hormone independent continuant level", + "decreased biological_process in multicellular organism", + "Abnormality of the anterior pituitary", + "Duodenal atresia", + "anatomical entity hypoplasia in independent continuant", + "Decreased response to growth hormone stimulation test", + "Abnormal duodenum morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", + "Abnormality of the gastrointestinal tract", + "Abnormal cell morphology", + "phenotype", + "abnormal hindbrain morphology", + "abnormal cerebral subcortex morphology", + "abnormal brain white matter morphology", + "absent digit", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "duodenum atresia", + "abnormal forelimb zeugopod bone", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormality of the nervous system", + "abnormal biological_process in independent continuant", + "abnormal kidney", + "abnormal central nervous system morphology", + "abnormal long bone morphology", + "Neoplasm", + "malformed anatomical entity", + "Morphological central nervous system abnormality", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal metencephalon morphology", + "abnormal secretion by cell", + "Abnormal skull morphology", + "decreased embryo development", + "abnormal brain morphology", + "abnormal hypothalamus-pituitary axis", + "aplasia or hypoplasia of telencephalon", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "Decreased head circumference", + "Abnormal axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "abnormal size of anatomical entity", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal midface morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of digestive system morphology", + "abnormal limb", + "abnormal developmental process", + "Polysplenia", + "Abnormal appendicular skeleton morphology", + "abnormal head", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormality of endocrine system physiology", + "Abnormal finger morphology", + "abnormal craniocervical region morphology", + "continuant", + "abnormal embryo development", + "Abnormality of limb bone morphology", + "Hypopituitarism", + "Abnormality of limbs", + "abnormal brain ventricle/choroid plexus morphology", + "aplastic anatomical entity", + "abnormal vasculature", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal chemical entity level", + "abnormal spleen morphology", + "Abnormality of the musculoskeletal system", + "Neurodegeneration", + "agenesis of anatomical entity", + "decreased developmental process", + "abnormal endocrine system morphology", + "All", + "Abnormal upper limb bone morphology", + "Abnormal cerebral ventricle morphology", + "decreased qualitatively biological_process", + "absent anatomical entity", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "abnormal small intestine", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal forebrain morphology", + "changed biological_process rate", + "abnormal pituitary gland morphology", + "Growth abnormality", + "abnormal cellular process", + "Abnormality of skull size", + "Abnormality of head or neck", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal gland morphology", + "Morphological abnormality of the gastrointestinal tract", + "decreased qualitatively biological_process in central nervous system", + "abnormal cerebral hemisphere morphology", + "alimentary part of gastrointestinal system atresia", + "abnormal adenohypophysis", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal hand morphology", + "Neoplasm by anatomical site", + "absent anatomical entity in the independent continuant", + "abnormal small intestine morphology", + "Aplasia/hypoplasia involving bones of the hand", + "bone element hypoplasia in independent continuant", + "Myelodysplasia", + "Abnormal nervous system morphology", + "abnormal limb bone", + "increased size of the anatomical entity", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal duodenum morphology", + "Phenotypic abnormality", + "increased size of the anatomical entity in independent continuant", + "changed biological_process rate in brain", + "quality", + "abnormal limb bone morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "abnormal manus", + "abnormal size of skull", + "abnormal hormone blood level", + "abnormal digestive system morphology", + "kidney hypoplasia", + "Finger aplasia", + "abnormal localization", + "abnormal skull morphology", + "Anterior hypopituitarism", + "Abnormal thumb morphology", + "abnormal nervous system", + "abnormal secretion in independent continuant", + "decreased secretion in pituitary gland", + "Abnormal cerebral subcortex morphology", + "abnormal head morphology", + "Abnormal morphology of the radius", + "Abnormal digit morphology", + "abnormal hematopoietic system morphology", + "midface hypoplasia", + "Abnormal intestine morphology", + "Abnormal pituitary gland morphology", + "Abnormal endocrine morphology", + "absent anatomical entity in the forelimb", + "abnormal arm", + "Chiari malformation", + "Abnormality of the head", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "aplastic manual digit 1", + "abnormal intestine morphology", + "abnormal anatomical entity morphology in the brain", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "Abnormal small intestine morphology", + "Abnormality of limb bone", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "absent anatomical entity in the multicellular organism", + "aplasia or hypoplasia of manual digit", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "abnormal appendicular skeleton morphology", + "Absent thumb", + "abnormal autopod region morphology", + "abnormally increased number of spleen", + "Intestinal atresia", + "abnormal face morphology", + "Limb undergrowth", + "decreased length of long bone", + "delayed biological_process", + "Short forearm", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "decreased length of anatomical entity", + "abnormal growth hormone secretion", + "abnormal bone of pectoral complex morphology", + "abnormal limb long bone morphology", + "Abnormality of the hand", + "Hematological neoplasm", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "aplasia or hypoplasia of radius bone", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal hematopoietic system", + "Abnormality of blood and blood-forming tissues", + "abnormal brain ventricle morphology", + "increased size of the brain ventricle", + "Ventriculomegaly", + "abnormal role bodily fluid level", + "abnormal biological_process", + "Growth delay", + "Supernumerary spleens", + "abnormal growth", + "abnormal digit", + "abnormal development of anatomical entity", + "decreased qualitatively developmental process", + "abnormal bone marrow morphology", + "decreased biological_process in independent continuant", + "abnormal manual digit 1 morphology", + "Intrauterine growth retardation", + "changed embryo development rate", + "Abnormal spleen morphology", + "decreased qualitatively biological_process in independent continuant", + "abnormal radius bone morphology", + "abnormal hemopoietic organ morphology", + "abnormally increased number of anatomical entity", + "abnormal spleen", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal diencephalon", + "Abnormality of the abdominal organs", + "radius bone hypoplasia", + "Abnormality of the vasculature", + "delayed growth", + "abnormal cardiovascular system", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the lymphatic system", + "abnormal genitourinary system", + "abnormal lymphatic part of lymphoid system", + "abnormal immune system", + "Short long bone", + "abnormally increased number of anatomical entity in the abdomen", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Abnormality of the immune system", + "Abnormality of the spleen", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "abnormal transport", + "abnormal endocrine system", + "decreased growth hormone secretion", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal multicellular organism chemical entity level", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal biological_process in central nervous system", + "decreased biological_process in brain", + "intestine atresia", + "Abnormal endocrine physiology", + "Abnormality of the endocrine system", + "decreased secretion in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormal response to endocrine stimulation test", + "Abnormality of the diencephalon", + "abnormal independent continuant chemical entity level", + "Abnormal circulating hormone concentration", + "abnormal role independent continuant level", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + ], + }, + { + "id": "MONDO:0011325", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group F", + "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", "EFO:0009045", "GARD:15355", "NCIT:C125707", "OMIM:603467"], + "provided_by": "phenio_nodes", + "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:0009777", + "HP:0000960", + "HP:0002247", + "HP:0002984", + "HP:0000028", + "HP:0001631", + "HP:0009778", + "HP:0001873", + "HP:0000125", + "HP:0000405", + "HP:0000824", + "HP:0001511", + "HP:0008551", + "HP:0000750", + "HP:0001882", + "HP:0000252", + "HP:0000957", + "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:0001561", + "HP:0011419", + ], + "has_phenotype_label": [ + "Absent thumb", + "Sacral dimple", + "Duodenal atresia", + "Hypoplasia of the radius", + "Cryptorchidism", + "Atrial septal defect", + "Short thumb", + "Thrombocytopenia", + "Pelvic kidney", + "Conductive hearing impairment", + "Decreased response to growth hormone stimulation test", + "Intrauterine growth retardation", + "Microtia", + "Delayed speech and language development", + "Leukopenia", + "Microcephaly", + "Cafe-au-lait spot", + "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", + "Polyhydramnios", + "Placental abruption", + ], + "has_phenotype_count": 34, + "has_phenotype_closure": [ + "UPHENO:0005170", + "HP:0011419", + "HP:0100767", + "HP:0001561", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0078215", + "HP:0001159", + "UPHENO:0076747", + "HP:0004100", + "UPHENO:0078288", + "UPHENO:0078125", + "UPHENO:0069254", + "HP:0001233", + "UPHENO:0078307", + "UPHENO:0082671", + "UPHENO:0081210", + "UPHENO:0075182", + "HP:0008678", + "HP:0011403", + "HP:0001194", + "HP:0001195", + "UPHENO:0075949", + "HP:0010881", + "HP:0010948", + "UPHENO:0054299", + "UPHENO:0054261", + "UPHENO:0082794", + "UPHENO:0053208", + "UPHENO:0010795", + "HP:0001508", + "UPHENO:0082761", + "UPHENO:0088162", + "HP:0001877", + "HP:0001328", + "UPHENO:0087548", + "UPHENO:0003058", + "UPHENO:0069391", + "HP:0008736", + "HP:0000036", + "UPHENO:0081320", + "UPHENO:0063722", + "UPHENO:0085068", + "HP:0000370", + "UPHENO:0076805", + "UPHENO:0085189", + "UPHENO:0021561", + "HP:0000315", + "UPHENO:0086005", + "HP:0009778", + "HP:0030680", + "UPHENO:0076779", + "UPHENO:0077872", + "UPHENO:0002642", + "UPHENO:0080325", + "UPHENO:0002437", + "HP:0009777", + "UPHENO:0076810", + "UPHENO:0086863", + "UPHENO:0049647", + "UPHENO:0075655", + "UPHENO:0015324", + "HP:0000925", + "UPHENO:0052970", + "HP:0001626", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0081594", + "UPHENO:0076289", + "HP:0000080", + "UPHENO:0087472", + "HP:0000708", + "HP:0011961", + "UPHENO:0002844", + "UPHENO:0081755", + "HP:0000234", + "UPHENO:0080693", + "UPHENO:0087018", + "UPHENO:0087802", + "HP:0010662", + "UPHENO:0068843", + "UPHENO:0080209", + "UPHENO:0053588", + "UPHENO:0002240", + "UPHENO:0041226", + "UPHENO:0049985", + "UPHENO:0049701", + "HP:0000750", + "UPHENO:0053644", + "UPHENO:0087433", + "HP:0001627", + "UPHENO:0049970", + "HP:0011873", + "UPHENO:0050108", + "UPHENO:0087006", + "UPHENO:0085144", + "UPHENO:0087846", + "UPHENO:0080377", + "UPHENO:0078267", + "HP:0001000", + "UPHENO:0080382", + "HP:0012874", + "UPHENO:0002332", + "UPHENO:0086857", + "UPHENO:0049874", + "HP:0002597", + "UPHENO:0085344", + "UPHENO:0020950", + "HP:0003117", + "HP:0008056", + "UPHENO:0085194", + "UPHENO:0005597", + "UPHENO:0088170", + "UPHENO:0081792", + "UPHENO:0002598", + "UPHENO:0012541", + "UPHENO:0079872", + "UPHENO:0002751", + "HP:0005120", + "UPHENO:0086956", + "UPHENO:0050113", + "UPHENO:0002371", + "UPHENO:0015290", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0080220", + "HP:0000027", + "UPHENO:0069294", + "HP:0011121", + "UPHENO:0081091", + "HP:0002242", + "UPHENO:0003017", + "UPHENO:0086198", + "UPHENO:0033559", + "UPHENO:0076727", + "HP:0040072", + "UPHENO:0080187", + "UPHENO:0054957", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "HP:0006503", + "UPHENO:0005433", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0005773", + "HP:0025354", + "HP:0009821", + "HP:0001155", + "UPHENO:0076783", + "HP:0011844", + "HP:0001167", + "UPHENO:0085875", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0008523", + "UPHENO:0087518", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0084766", + "UPHENO:0006910", + "UPHENO:0050034", + "UPHENO:0081095", + "HP:0001873", + "HP:0001034", + "UPHENO:0001003", + "UPHENO:0003055", + "UPHENO:0021474", + "UPHENO:0086201", + "UPHENO:0086023", + "HP:0001510", + "HP:0009121", + "HP:0011100", + "UPHENO:0081790", + "UPHENO:0083263", + "UPHENO:0075696", + "HP:0011842", + "HP:0000078", + "UPHENO:0063569", + "UPHENO:0046540", + "UPHENO:0059874", + "HP:0011024", + "HP:0002244", + "UPHENO:0088337", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0002378", + "UPHENO:0060026", + "HP:0002086", + "UPHENO:0050625", + "HP:0000929", + "HP:0010767", + "HP:0005107", + "UPHENO:0049940", + "HP:0003241", + "HP:0010935", + "UPHENO:0088186", + "UPHENO:0002901", + "UPHENO:0076723", + "HP:0045060", + "HP:0009601", + "UPHENO:0075961", + "HP:0000089", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "HP:0005922", + "UPHENO:0052178", + "UPHENO:0015303", + "HP:0008551", + "UPHENO:0087547", + "HP:0040070", + "HP:0031704", + "UPHENO:0084771", + "UPHENO:0086771", + "UPHENO:0026183", + "UPHENO:0002476", + "UPHENO:0049367", + "UPHENO:0087089", + "UPHENO:0059829", + "HP:0034434", + "UPHENO:0082878", + "UPHENO:0081313", + "HP:0002664", + "HP:0034057", + "HP:0006265", + "UPHENO:0078606", + "UPHENO:0078452", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0004618", + "UPHENO:0077426", + "UPHENO:0075219", + "UPHENO:0087334", + "HP:0011603", + "HP:0009381", + "HP:0000025", + "HP:0002973", + "HP:0001172", + "UPHENO:0053580", + "UPHENO:0063639", + "UPHENO:0079876", + "HP:0000924", + "UPHENO:0049927", + "UPHENO:0080126", + "HP:0011297", + "UPHENO:0001002", + "UPHENO:0087924", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0026506", + "UPHENO:0084987", + "UPHENO:0080362", + "HP:0002247", + "UPHENO:0002880", + "HP:0100547", + "UPHENO:0076675", + "UPHENO:0002830", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "HP:0000032", + "HP:0040012", + "UPHENO:0022529", + "HP:0040068", + "UPHENO:0002708", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0084763", + "HP:0002088", + "UPHENO:0078159", + "UPHENO:0049584", + "HP:0025033", + "UPHENO:0001001", + "HP:0002817", + "HP:0002984", + "HP:0000118", + "UPHENO:0046411", + "UPHENO:0087516", + "HP:0002818", + "HP:0002813", + "UPHENO:0020584", + "UPHENO:0053298", + "BFO:0000002", + "HP:0000364", + "HP:0012639", + "UPHENO:0084448", + "HP:0009824", + "HP:0001882", + "HP:0000001", + "UPHENO:0076695", + "HP:0010781", + "HP:0008669", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0001574", + "UPHENO:0002896", + "UPHENO:0009382", + "UPHENO:0080300", + "HP:0000951", + "UPHENO:0003811", + "UPHENO:0088166", + "UPHENO:0002813", + "UPHENO:0078729", + "HP:0000960", + "HP:0003220", + "HP:0001671", + "HP:0003026", + "UPHENO:0005431", + "UPHENO:0086172", + "HP:0000864", + "UPHENO:0087501", + "UPHENO:0076739", + "UPHENO:0080079", + "HP:0007364", + "UPHENO:0046538", + "UPHENO:0087349", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0081204", + "HP:0001197", + "HP:0011446", + "UPHENO:0019888", + "HP:0011425", + "HP:0040195", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0005016", + "UPHENO:0076799", + "HP:0000119", + "HP:0000152", + "UPHENO:0078081", + "UPHENO:0076735", + "UPHENO:0033572", + "HP:0009815", + "HP:0002246", + "HP:0002589", + "BFO:0000001", + "UPHENO:0002635", + "HP:0031072", + "HP:0012718", + "UPHENO:0080099", + "UPHENO:0010763", + "UPHENO:0002833", + "UPHENO:0076776", + "HP:0011793", + "HP:0005927", + "UPHENO:0049700", + "UPHENO:0083689", + "HP:0009380", + "UPHENO:0074228", + "HP:0000811", + "UPHENO:0085873", + "UPHENO:0046284", + "HP:0025031", + "UPHENO:0076803", + "HP:0000377", + "HP:0011314", + "UPHENO:0086699", + "UPHENO:0012274", + "UPHENO:0085118", + "UPHENO:0087510", + "PATO:0000001", + "UPHENO:0080110", + "UPHENO:0075195", + "HP:0009826", + "UPHENO:0076293", + "HP:0020047", + "UPHENO:0086049", + "UPHENO:0075995", + "HP:0030260", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0081466", + "UPHENO:0002903", + "HP:0001871", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0085302", + "UPHENO:0084928", + "UPHENO:0084761", + "HP:0001872", + "UPHENO:0086173", + "HP:0100542", + "HP:0012210", + "HP:0000086", + "HP:0001560", + "UPHENO:0015280", + "UPHENO:0075902", + "UPHENO:0081436", + "HP:0000079", + "UPHENO:0050121", + "HP:0000405", + "UPHENO:0078743", + "UPHENO:0076703", + "UPHENO:0085330", + "UPHENO:0005518", + "HP:0011947", + "HP:0000598", + "HP:0000028", + "UPHENO:0052231", + "HP:0031703", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076901", + "HP:0000365", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0087940", + "UPHENO:0078179", + "UPHENO:0080585", + "HP:0001881", + "UPHENO:0087376", + "HP:0025634", + "UPHENO:0001005", + "UPHENO:0050620", + "HP:0000824", + "UPHENO:0076702", + "HP:0040075", + "HP:0025461", + "UPHENO:0051763", + "UPHENO:0087374", + "UPHENO:0083951", + "HP:0012733", + "UPHENO:0049588", + "HP:0004323", + "UPHENO:0005652", + "UPHENO:0085984", + "HP:0012503", + "UPHENO:0083952", + "HP:0008771", + "UPHENO:0049873", + "UPHENO:0002678", + "UPHENO:0046624", + "UPHENO:0011498", + "UPHENO:0077890", + "UPHENO:0076286", + "UPHENO:0049724", + "UPHENO:0080588", + "UPHENO:0077887", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "HP:0034058", + "UPHENO:0077873", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0049587", + "HP:0011747", + "HP:0009115", + "UPHENO:0004523", + "UPHENO:0002595", + "UPHENO:0079826", + "UPHENO:0077889", + "UPHENO:0050116", + "UPHENO:0076287", + "HP:0002060", + "HP:0012372", + "HP:0011452", + "UPHENO:0086735", + "UPHENO:0080221", + "HP:0032367", + "UPHENO:0087186", + "UPHENO:0081435", + "UPHENO:0020888", + "UPHENO:0075997", + "UPHENO:0042775", + "HP:0000818", + "UPHENO:0075772", + "UPHENO:0074572", + "HP:0001511", + "UPHENO:0000543", + "UPHENO:0051668", + "UPHENO:0087355", + "HP:0012243", + "UPHENO:0081547", + "UPHENO:0000541", + "UPHENO:0005642", + "HP:0001507", + "UPHENO:0080393", + "HP:0012145", + "HP:0040064", + "UPHENO:0080111", + "HP:0012759", + "UPHENO:0076730", + "UPHENO:0081119", + "UPHENO:0082129", + "UPHENO:0005986", + "HP:0000356", + "UPHENO:0085874", + "HP:0008772", + "UPHENO:0078278", + "UPHENO:0069196", + "UPHENO:0020659", + "UPHENO:0049990", + "UPHENO:0049622", + "UPHENO:0069110", + "UPHENO:0019890", + "UPHENO:0002263", + "UPHENO:0019970", + "UPHENO:0087309", + "UPHENO:0051804", + "HP:0002167", + "UPHENO:0080114", + "HP:0002463", + "HP:0000076", + "UPHENO:0049586", + "UPHENO:0002433", + "HP:0006101", + "HP:0012638", + "UPHENO:0087643", + "UPHENO:0002948", + "UPHENO:0050101", + "UPHENO:0088338", + "UPHENO:0075872", + "UPHENO:0035147", + "UPHENO:0078327", + "UPHENO:0087123", + "HP:0001631", + "UPHENO:0085410", + "UPHENO:0088319", + "UPHENO:0088321", + "HP:0002715", + "HP:0010460", + "UPHENO:0035025", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "HP:0002977", + "HP:0000812", + "UPHENO:0086635", + "HP:0000240", + "HP:0000252", + "UPHENO:0086855", + "UPHENO:0081628", + "UPHENO:0075220", + "UPHENO:0080200", + "BFO:0000020", + "UPHENO:0081566", + "HP:0000957", + "UPHENO:0074584", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0082682", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0003020", + "UPHENO:0002725", + "UPHENO:0069523", + "HP:0000125", + "UPHENO:0002910", + "HP:0000568", + "HP:0030962", + "UPHENO:0020041", + "HP:0000271", + "HP:0000478", + "HP:0100887", + "HP:0012252", + "HP:0012647", + "HP:0002090", + "HP:0012649", + "UPHENO:0086908", + "UPHENO:0076812", + "UPHENO:0074685", + "HP:0010978", + "UPHENO:0074589", + "UPHENO:0076684", + "UPHENO:0074804", + "UPHENO:0015329", + "UPHENO:0004536", + "UPHENO:0002827", + "UPHENO:0082723", + "UPHENO:0086700", + "UPHENO:0020748", + "HP:0011994", + "UPHENO:0074722", + "HP:0000707", + "UPHENO:0049748", + "UPHENO:0050021", + "HP:0000009", + "UPHENO:0050845", + "HP:0001939", + "HP:0003221", + "UPHENO:0083648", + "HP:0011017", + "HP:0010936", + "UPHENO:0002806", + "HP:0000069", + "UPHENO:0075852", + "HP:0000014", + "UPHENO:0075933", + "HP:0031073", + "UPHENO:0076765", + "HP:0025015", + "UPHENO:0086797", + "HP:0012130", + "UPHENO:0033603", + "HP:0033353", + "UPHENO:0076729", + "HP:0000830", + "HP:0001643", + "UPHENO:0087339", + "UPHENO:0063629", + "UPHENO:0085195", + "HP:0031071", + "HP:0005528", + ], + "has_phenotype_closure_label": [ + "Placental abruption", + "Abnormal placenta morphology", + "abnormal female reproductive system", + "abnormal amniotic fluid", + "Abnormality of the amniotic fluid", + "Short stature", + "abnormality of anatomical entity height", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "Abnormality of body height", + "abnormal size of multicellular organism", + "abnormal manual digit 2 morphology", + "Abnormal 2nd finger morphology", + "abnormally fused manual digit 2 and manual digit 3", + "Finger syndactyly", + "abnormally fused anatomical entity and manual digit 3", + "Syndactyly", + "abnormally fused digit and anatomical entity", + "2-3 finger syndactyly", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "abnormally fused digit and digit", + "abnormally fused anatomical entity and anatomical entity", + "abnormally fused anatomical entity and digit", + "Renal hypoplasia", + "decreased size of the kidney", + "Fetal ultrasound soft marker", + "abnormal late embryo", + "Single umbilical artery", + "abnormal umbilical cord", + "Abnormality of the umbilical cord", + "Abnormal umbilical cord blood vessel morphology", + "Decreased body weight", + "abnormality of anatomical entity mass", + "Failure to thrive", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "abnormal erythrocyte morphology", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", + "Sacral dimple", + "abnormally decreased number of myeloid cell", + "Abnormal cardiac atrium morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Congenital malformation of the great arteries", + "Abnormal platelet count", + "abnormal sensory perception of sound", + "abnormal platelet morphology", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "Short digit", + "Short thumb", + "Intrauterine growth retardation", + "abnormal vascular system morphology", + "Short finger", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal cardiac atrium morphology", + "abnormal hypothalamus-pituitary axis", + "abnormal cardiac septum morphology", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "abnormally localised anatomical entity", + "Abnormality of the genital system", + "abnormal male reproductive organ morphology", + "Non-obstructive azoospermia", + "Abnormal penis morphology", + "abnormal number of anatomical enitites of type sperm", + "absent sperm", + "abnormally localised anatomical entity in independent continuant", + "absent sperm in the independent continuant", + "decreased spermatogenesis", + "abnormal kidney morphology", + "abnormal male reproductive system", + "decreased qualitatively developmental process", + "abnormal ureter", + "Abnormality of male external genitalia", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "Polyhydramnios", + "abnormal anatomical entity morphology in the pectoral complex", + "Thrombocytopenia", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "Abnormal external genitalia", + "Abnormal myeloid cell morphology", + "abnormal interatrial septum morphology", + "Abnormal ear physiology", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal postcranial axial skeleton morphology", + "abnormal diencephalon", + "abnormal incomplete closing of the interatrial septum", + "penis hypoplasia", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "decreased growth hormone secretion", + "abnormally fused manual digit and anatomical entity", + "Abnormality of head or neck", + "abnormality of anatomical entity physiology", + "abnormally fused manual digit and manual digit", + "anatomical entity atresia", + "abnormal cell", + "Abnormal testis morphology", + "abnormal reproductive process", + "abnormal multicellular organismal reproductive process", + "abnormal internal genitalia", + "abnormal gamete generation", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal artery morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal incomplete closing of the ductus arteriosus", + "decreased length of anatomical entity in independent continuant", + "changed biological_process rate in independent continuant", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "abnormal lung morphology", + "decreased length of forelimb zeugopod bone", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal male reproductive system physiology", + "decreased length of anatomical entity", + "abnormally decreased number of cell", + "Aplasia/hypoplasia involving forearm bones", + "Forearm undergrowth", + "abnormal growth hormone secretion", + "Abnormality of the vasculature", + "Absent thumb", + "abnormal ear", + "abnormal blood cell", + "aplasia or hypoplasia of manual digit", + "absent anatomical entity in the multicellular organism", + "decreased sensory perception of sound", + "abnormality of middle ear physiology", + "Abnormality of limb bone", + "Abnormal small intestine morphology", + "Abnormal fetal morphology", + "abnormal intestine morphology", + "Abnormal cerebral morphology", + "abnormal blood vessel morphology", + "Abnormal vascular morphology", + "abnormal arm", + "Abnormal digit morphology", + "decreased qualitatively reproductive process", + "abnormal localization", + "Language impairment", + "Anemia", + "Abnormality of the hand", + "decreased size of the external ear", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + "Microtia", + "Azoospermia", + "Aplasia/Hypoplasia of the ear", + "continuant", + "abnormal manus", + "aplasia or hypoplasia of ear", + "abnormal sensory perception", + "Abnormal fetal cardiovascular morphology", + "Cryptorchidism", + "abnormal artery morphology in the independent continuant", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "aplasia or hypoplasia of manual digit 1", + "entity", + "abnormal testis morphology", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "abnormal reproductive system morphology", + "changed biological_process rate in brain", + "abnormal blood cell morphology", + "Abnormality of the skin", + "abnormal duodenum morphology", + "abnormal anatomical entity morphology in the heart", + "abnormal external genitalia", + "Abnormal renal morphology", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "bone element hypoplasia in independent continuant", + "abnormally decreased number of anatomical entity in the blood", + "Abnormal erythroid lineage cell morphology", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "decreased length of manual digit 1", + "Aplasia/hypoplasia of the extremities", + "Atrial septal defect", + "abnormal spermatogenesis", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "Abnormal spermatogenesis", + "Abnormal morphology of the great vessels", + "decreased length of long bone", + "abnormal anatomical entity morphology in the independent continuant", + "absent manual digit", + "abnormal phenotype by ontology source", + "alimentary part of gastrointestinal system atresia", + "Morphological abnormality of the gastrointestinal tract", + "abnormal gland morphology", + "abnormal immune system morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "abnormal cardiac atrium morphology in the heart", + "delayed growth", + "Abnormality of the integument", + "absent germ cell", + "Abnormal response to endocrine stimulation test", + "Abnormality of bone marrow cell morphology", + "Short forearm", + "delayed biological_process", + "Pneumonia", + "Abnormal cardiac septum morphology", + "abnormal transport", + "Hypoplasia of the radius", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "abnormal skeletal system morphology", + "abnormal biological_process in central nervous system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "abnormal small intestine", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "abnormal penis", + "abnormality of ureter physiology", + "abnormal penis morphology", + "decreased length of manual digit", + "abnormal developmental process", + "abnormal hormone independent continuant level", + "decreased biological_process in independent continuant", + "absent anatomical entity", + "Abnormality of reproductive system physiology", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "Abnormality of the endocrine system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormally decreased number of anatomical entity", + "Abnormal upper limb bone morphology", + "All", + "increased qualitatively biological_process", + "decreased developmental process", + "abnormal response to stress", + "agenesis of anatomical entity", + "Skin dimple", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "abnormal ductus arteriosus morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal face morphology", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "aplastic anatomical entity", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of limbs", + "Hypopituitarism", + "Delayed speech and language development", + "Hypoplasia of penis", + "Abnormality of limb bone morphology", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "absent gamete", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Abnormal appendicular skeleton morphology", + "abnormal limb", + "abnormally fused manual digit 2 and anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal ear morphology", + "anatomical entity hypoplasia", + "Abnormality of the ureter", + "abnormal cardiac atrium morphology in the independent continuant", + "abnormal manus morphology", + "changed embryo development rate", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal digit", + "Abnormal thumb morphology", + "abnormal development of anatomical entity", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "abnormal external ear morphology", + "Microphthalmia", + "Fetal anomaly", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "radius bone hypoplasia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "Abnormal axial skeleton morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "abnormality of immune system physiology", + "abnormal vertebral column", + "Abnormality of the vertebral column", + "abnormal location of anatomical entity", + "Gastrointestinal atresia", + "Macule", + "abnormal fused sacrum morphology", + "abnormal role bodily fluid level", + "aplasia or hypoplasia of external ear", + "abnormal integument", + "Sacrococcygeal pilonidal abnormality", + "intestine atresia", + "Abnormal endocrine physiology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal forelimb zeugopod bone", + "duodenum atresia", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal male reproductive system morphology", + "phenotype", + "abnormal placenta", + "Abnormal cell morphology", + "Hypoplastic male external genitalia", + "Abnormality of the gastrointestinal tract", + "Aplasia/Hypoplasia of the radius", + "abnormal digestive system", + "decreased growth", + "increased qualitatively inflammatory response", + "Abnormal duodenum morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "Abnormal atrial septum morphology", + "abnormal heart morphology", + "aplasia or hypoplasia of radius bone", + "abnormal long bone morphology", + "abnormal opening of the anatomical entity", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "Decreased anatomical entity mass", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "Duodenal atresia", + "forelimb zeugopod bone hypoplasia", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "abnormally decreased number of leukocyte", + "Abnormality of the ear", + "Abnormal pituitary gland morphology", + "Intestinal atresia", + "abnormal radius bone morphology", + "Aplasia/Hypoplasia of the external ear", + "decreased size of the anatomical entity in the independent continuant", + "abnormal renal system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal central nervous system morphology", + "Abnormality of chromosome stability", + "Limb undergrowth", + "abnormal upper urinary tract", + "Abnormality of the eye", + "abnormality of male reproductive system physiology", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "abnormal renal system", + "Ectopic kidney", + "Abnormality of the lower urinary tract", + "Abnormal localization of kidney", + "abnormal adenohypophysis", + "Growth abnormality", + "abnormal orbital region", + "Abnormality of the kidney", + "decreased biological_process in pituitary gland", + "abnormal eyeball of camera-type eye", + "Abnormality of the upper urinary tract", + "Pelvic kidney", + "abnormality of nervous system physiology", + "Abnormal cellular physiology", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Hearing abnormality", + "abnormal anatomical entity morphology in the manus", + "abnormal role blood level", + "Conductive hearing impairment", + "abnormal middle ear", + "abnormal genitourinary system", + "changed developmental process rate", + "abnormal vasculature", + "abnormal head morphology", + "decreased vibrational conductance of sound to the inner ear", + "Abnormal forebrain morphology", + "Functional abnormality of the middle ear", + "abnormal head", + "absent anatomical entity in the forelimb", + "abnormality of ear physiology", + "abnormal ear morphology", + "abnormal endocrine system", + "absent digit", + "Respiratory tract infection", + "Neoplasm", + "Abnormal intestine morphology", + "decreased qualitatively biological_process in independent continuant", + "abnormal endocrine system morphology", + "Abnormality of the respiratory system", + "Aplasia/Hypoplasia of the thumb", + "decreased secretion in pituitary gland", + "abnormal secretion in independent continuant", + "abnormal nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal forebrain morphology", + "abnormality of reproductive system physiology", + "Abnormal heart morphology", + "Abnormality of the bladder", + "abnormal multicellular organism chemical entity level", + "abnormal pituitary gland morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal cellular process", + "Abnormal communication", + "Abnormality of brain morphology", + "abnormal bone of pectoral complex morphology", + "decreased qualitatively biological_process in central nervous system", + "decreased secretion in independent continuant", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "Abnormal endocrine morphology", + "decreased biological_process in brain", + "abnormal secretion by cell", + "abnormality of endocrine system physiology", + "Decreased response to growth hormone stimulation test", + "increased inflammatory response in lung", + "Abnormality of the diencephalon", + "abnormal behavior", + "abnormal independent continuant chemical entity level", + "Abnormality of metabolism/homeostasis", + "abnormal chemical entity level", + "abnormal inflammatory response", + "Abnormal circulating hormone concentration", + "abnormal hormone blood level", + "Abnormalities of placenta or umbilical cord", + "abnormal size of skull", + "Anterior hypopituitarism", + "decreased size of the penis", + "abnormal role independent continuant level", + "decreased size of the anatomical entity", + "Specific learning disability", + "abnormal biological_process in independent continuant", + "Abnormality of the anterior pituitary", + "quality", + "decreased biological_process in multicellular organism", + "abnormal diencephalon morphology", + "Abnormal growth hormone level", + "decreased qualitatively growth", + "abnormally decreased number of hematopoietic cell", + "Abnormal inflammatory response", + "abnormal neuroendocrine gland morphology", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "abnormal umbilical blood vessel morphology", + "decreased embryo development", + "abnormal biological_process", + "Growth delay", + "abnormal growth", + "abnormally fused anatomical entity and manual digit", + "abnormal leukocyte morphology", + "increased biological_process", + "abnormal external ear", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "external ear hypoplasia", + "Abnormal eye morphology", + "abnormal gamete", + "Abnormality of the outer ear", + "abnormal great vessel of heart morphology", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal behavior process", + "abnormal skin of body", + "Neurodevelopmental delay", + "Atypical behavior", + "abnormal closing of the anatomical entity", + "abnormal response to stimulus", + "Short long bone", + "abnormal skull morphology", + "Neurodevelopmental abnormality", + "Abnormality of speech or vocalization", + "abnormally decreased number of leukocyte in the blood", + "Abnormal leukocyte count", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal immune system", + "Leukopenia", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "Renal hypoplasia/aplasia", + "abnormal size of kidney", + "abnormal lower urinary tract", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "abnormally decreased number of cell in the independent continuant", + "Decreased head circumference", + "abnormal telencephalon morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "abnormal urinary bladder", + "Abnormal skull morphology", + "Aplasia/Hypoplasia of the cerebrum", + "aplasia or hypoplasia of eyeball of camera-type eye", + "increased pigmentation in independent continuant", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the external male genitalia", + "Abnormal ureter physiology", + "increased qualitatively biological_process in independent continuant", + "Cafe-au-lait spot", + "Abnormality of skin pigmentation", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "increased pigmentation", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Hyperpigmentation of the skin", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "Abnormality of the orbital region", + "Abnormality of the face", + "increased inflammatory response in independent continuant", + "Abnormality of the middle ear", + "abnormality of urinary bladder physiology", + "Abnormality of immune system physiology", + "Abnormal lung morphology", + "Abnormality of prenatal development or birth", + "increased inflammatory response", + "increased qualitatively response to stimulus", + "abnormal autopod region morphology", + "increased qualitatively inflammatory response in independent continuant", + "Increased inflammatory response", + "abnormal primary metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "abnormal metabolic process", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "increased biological_process in lung", + "abnormal programmed DNA elimination by chromosome breakage", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal respiratory system morphology", + "abnormal organelle organization", + "abnormal nitrogen compound metabolic process", + "Functional abnormality of the bladder", + "abnormal anatomical entity length", + "Vesicoureteral reflux", + "Abnormal pinna morphology", + "Patent ductus arteriosus", + "Abnormal blood vessel morphology", + "abnormal systemic artery morphology", + "abnormal bone marrow cell morphology", + "Bone marrow hypocellularity", + "external male genitalia hypoplasia", + "abnormal shape of continuant", + "abnormal bone marrow cell", + "abnormal embryo development", + "Microphallus", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "External genital hypoplasia", + ], + }, + { + "id": "MONDO:0013566", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group L", + "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", + "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", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0040012", + "HP:0007018", + "HP:0000582", + "HP:0008551", + "HP:0000470", + "HP:0009777", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000316", + "HP:0001510", + "HP:0001776", + "HP:0000347", + "HP:0003974", + "HP:0001511", + "HP:0009892", + "HP:0000151", + "HP:0001263", + "HP:0003221", + "HP:0002032", + "HP:0011968", + "HP:0001321", + "HP:0000175", + "HP:0000054", + "HP:0000437", + "HP:0001903", + "HP:0000122", + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Attention deficit hyperactivity disorder", + "Upslanted palpebral fissure", + "Microtia", + "Short neck", + "Absent thumb", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Hypertelorism", + "Growth delay", + "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": 36, + 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"HP:0025031", + "HP:0000377", + "UPHENO:0076803", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "HP:0009380", + "HP:0002086", + "UPHENO:0060026", + "HP:0007360", + "UPHENO:0076766", + "UPHENO:0076702", + "HP:0012443", + "UPHENO:0006161", + "HP:0002118", + "UPHENO:0087430", + "UPHENO:0056333", + "HP:0001511", + "UPHENO:0000543", + "UPHENO:0081784", + "HP:0009823", + "HP:0000957", + "HP:0001034", + "UPHENO:0002907", + "HP:0002011", + "UPHENO:0074575", + "HP:0002692", + "UPHENO:0076730", + "UPHENO:0050121", + "UPHENO:0074572", + "UPHENO:0008523", + "UPHENO:0050008", + "UPHENO:0025875", + "UPHENO:0080377", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0080221", + "UPHENO:0025100", + "HP:0025668", + "UPHENO:0076739", + ], + "has_phenotype_closure_label": [ + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of the immune system", + "abnormal immune system", + "abnormal bone marrow cell morphology", + "increased width of the anatomical entity in independent continuant", + "increased width of anatomical entity", + "Abnormal nasal bridge morphology", + "abnormal size of eyeball of camera-type eye", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal myelination", + "delayed central nervous system myelination", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "delayed biological_process in independent continuant", + "Renal hypoplasia/aplasia", + "absent kidney", + "abnormal renal system", + "absent kidney in the independent continuant", + "Unilateral renal agenesis", + "abnormal renal system morphology", + "Abnormality of blood and blood-forming tissues", + "abnormal bone marrow cell", + "Anemia", + "Abnormal myeloid cell morphology", + "Renal agenesis", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "abnormal external nose morphology", + "abnormal myelination", + "abnormal erythrocyte morphology", + "Depressed nasal tip", + "abnormal nose", + "Abnormal nasal tip morphology", + "abnormal nose morphology", + "Abnormality of male external genitalia", + "abnormal external male genitalia", + "abnormal male reproductive organ morphology", + "decreased size of the penis", + "abnormal male reproductive system", + "penis hypoplasia", + "Abnormality of globe size", + "Abnormal penis morphology", + "Abnormal external genitalia", + "Micropenis", + "abnormal male reproductive system morphology", + "abnormal external male genitalia morphology", + "Bone marrow hypocellularity", + "external male genitalia hypoplasia", + "External genital hypoplasia", + "Abnormal palate morphology", + "abnormal midface morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal incomplete closing of the secondary palate", + "Craniofacial cleft", + "abnormal oral cavity morphology", + "abnormal opening of the anatomical entity", + "abnormal cerebellum morphology", + "Abnormality of the male genitalia", + "decreased size of the cerebellum", + "Abnormal hindbrain morphology", + "Aplasia/Hypoplasia of the cerebellum", + "abnormal anatomical entity morphology in the brain", + "Abnormal cerebellum morphology", + "abnormality of digestive system physiology", + "Abnormality of digestive system physiology", + "Wide nasal bridge", + "Abdominal symptom", + "alimentary part of gastrointestinal system atresia", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "Abnormality of the uterus", + "aplasia or hypoplasia of uterus", + "Abnormality of the genital system", + "abnormal female reproductive organ morphology", + "abnormal internal female genitalia morphology", + "Aplasia of the uterus", + "Abnormality of the genitourinary system", + "Abnormal morphology of female internal genitalia", + "abnormal female reproductive system", + "Aplasia/hypoplasia of the uterus", + "absent anatomical entity in the reproductive system", + "abnormal female reproductive system morphology", + "absent uterus", + "absent external ear in the independent continuant", + "Anotia", + "decreased developmental process", + "abnormal developmental process", + "decreased embryo development", + "aplasia or hypoplasia of cerebellum", + "changed developmental process rate", + "Abnormal upper limb bone morphology", + "Abnormal erythrocyte morphology", + "aplasia or hypoplasia of radius bone", + "abnormal nose tip morphology", + "Aplasia/hypoplasia involving forearm bones", + "abnormal long bone morphology", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "absent anatomical entity in the skeletal system", + "Abnormal morphology of the radius", + "absent radius bone in the forelimb", + "Global developmental delay", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the radius", + "Absent radius", + "Aplasia/Hypoplasia involving bones of the skull", + "aplasia or hypoplasia of mandible", + "shape nose tip", + "anatomical entity hypoplasia in face", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal axon ensheathment in central nervous system in independent continuant", + "Abnormal jaw morphology", + "bone element hypoplasia in face", + "cerebellum hypoplasia", + "Abnormal skull morphology", + "Abnormality of the mouth", + "abnormal embryo development", + "abnormal mouth morphology", + "abnormal jaw skeleton morphology", + "abnormal head bone morphology", + "abnormal facial skeleton morphology", + "abnormal genitourinary system", + "Abnormal foot morphology", + "Bilateral talipes equinovarus", + "Talipes equinovarus", + "Abnormality of the lower limb", + "delayed growth", + "abnormal growth", + "delayed biological_process", + "Growth delay", + "increased anatomical entity length in independent continuant", + "absent external ear", + "abnormal location of eyeball of camera-type eye", + "Abnormality of the urinary system", + "increased length of the anatomical entity", + "abnormal nasal bridge morphology", + "Hypertelorism", + "abnormal upper urinary tract", + "curvature anatomical entity", + "abnormal pes morphology", + "Abnormality of the eye", + "Abnormality of the kidney", + "abnormal eyeball of camera-type eye", + "Esophageal atresia", + "increased size of the anatomical entity in independent continuant", + "absent anatomical entity", + "aplasia or hypoplasia of anatomical entity", + "curvature anatomical entity in independent continuant", + "decreased qualitatively developmental process", + "abnormal external ear morphology", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of the mandible", + "Aplasia/hypoplasia involving bones of the extremities", + "agenesis of anatomical entity", + "abnormal digit morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal neck morphology", + "Aplasia/Hypoplasia of the ear", + "abnormal forelimb morphology", + "Abnormality of the musculoskeletal system", + "Cafe-au-lait spot", + "Orofacial cleft", + "Morphological abnormality of the gastrointestinal tract", + "aplasia or hypoplasia of manual digit 1", + "abnormal vertebral column", + "fused sacrum hypoplasia", + "abnormal axial skeleton plus cranial skeleton morphology", + "aplastic forelimb zeugopod bone", + "aplasia or hypoplasia of fused sacrum", + "decreased size of the anatomical entity", + "Abnormal midface morphology", + "Abnormal mandible morphology", + "absent anatomical entity in the limb", + "aplasia or hypoplasia of ear", + "Microphthalmia", + "Abnormal neck morphology", + "abnormal skeletal system", + "Abnormal pinna morphology", + "abnormal hindlimb morphology", + "increased pigmentation in skin of body", + "Abnormality of the ear", + "changed embryo development rate", + "Intrauterine growth retardation", + "abnormal manual digit 1 morphology", + "abnormal fused sacrum morphology", + "Abnormal axial skeleton morphology", + "Abnormal facial skeleton morphology", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "abnormal skull morphology", + "abnormal response to stimulus", + "abnormal manual digit morphology in the independent continuant", + "decreased size of the kidney", + "Abnormal eye morphology", + "external ear hypoplasia", + "Hypoplastic sacrum", + "Abnormality of the respiratory system", + "shape anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "esophagus atresia", + "absent radius bone", + "anatomical entity hypoplasia", + "flattened anatomical entity in independent continuant", + "abnormal palpebral fissure", + "absent anatomical entity in the head", + "decreased biological_process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia of the extremities", + "abnormal external ear", + "Talipes", + "abnormal cerebrospinal fluid morphology", + "decreased length of anatomical entity", + "abnormal radius bone morphology", + "Aplasia/Hypoplasia of the external ear", + "Abnormality of the face", + "Abnormal anus morphology", + "abnormal erythroid lineage cell morphology", + "abnormal shape of continuant", + "Growth abnormality", + "abnormal orbital region", + "flat nose tip", + "Micrognathia", + "Abnormality of the skeletal system", + "Abnormality of the ocular adnexa", + "Abnormality of mental function", + "abnormal chromatin organization", + "Chromosome breakage", + "kidney hypoplasia", + "Finger aplasia", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "quality", + "abnormal nitrogen compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormal cell morphology", + "Hypoplastic male external genitalia", + "phenotype", + "absent external ear in the head", + "decreased length of neck", + "abnormal central nervous system myelination in independent continuant", + "abnormal internal genitalia", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "decreased size of the external male genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Abnormality of the palpebral fissures", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal snout morphology", + "abnormal face", + "abnormal metabolic process", + "Abnormal forearm morphology", + "decreased size of the mandible", + "abnormal anatomical entity", + "Abnormality of the outer ear", + "continuant", + "abnormal craniocervical region morphology", + "abnormal leg", + "Attention deficit hyperactivity disorder", + "abnormal digestive system", + "abnormal integument", + "Morphological central nervous system abnormality", + "abnormal behavior process", + "Abnormality of the nose", + "abnormal brain ventricle morphology", + "abnormal neck", + "Atypical behavior", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormality of limb bone morphology", + "Hypoplasia of penis", + "Abnormality of limbs", + "abnormal mandible morphology", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the head", + "abnormal anus", + "Abnormality of the female genitalia", + "abnormal primary metabolic process", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "abnormal organelle organization", + "Abnormal CNS myelination", + "abnormal development of anatomical entity", + "abnormal digit", + "Positional foot deformity", + "Abnormal cerebral ventricle morphology", + "abnormal cellular process", + "abnormal biological_process in central nervous system", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Slanting of the palpebral fissure", + "increased width of nasal bridge", + "Abnormal tracheobronchial morphology", + "abnormal biological_process", + "aplasia or hypoplasia of external ear", + "abnormal cell", + "abnormal limb morphology", + "abnormal reproductive system", + "Abnormality of head or neck", + "entity", + "abnormal anatomical entity morphology in the appendage girdle complex", + "absent radius bone in the independent continuant", + "Upslanted palpebral fissure", + "Abnormal cellular phenotype", + "Irregular hyperpigmentation", + "Hydrocephalus", + "abnormal behavior", + "Abnormality of digestive system morphology", + "abnormal limb", + "mandible hypoplasia", + "Microtia", + "phenotype by ontology source", + "Abnormal thumb morphology", + "abnormal size of kidney", + "Abnormal eyelid morphology", + "abnormal head", + "abnormally increased number of anatomical entity in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormal face morphology", + "abnormal digestive system morphology", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal nervous system", + "Neoplasm", + "Anal atresia", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal hematopoietic system morphology", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal nervous system physiology", + "Feeding difficulties", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal esophagus morphology", + "Abnormal internal genitalia", + "abnormal eyelid morphology", + "Abnormality of the nervous system", + "delayed biological_process in central nervous system", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", + "Absent forearm bone", + "abnormal ocular adnexa morphology", + "flattened anatomical entity", + "Aplasia involving forearm bones", + "Abnormality of globe location", + "Abnormality of skin pigmentation", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "Abnormality of the orbital region", + "absent anatomical entity in the multicellular organism", + "decreased size of the eyeball of camera-type eye", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "aplasia or hypoplasia of vertebral column", + "flat anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "abnormal penis morphology", + "abnormal roof of mouth morphology", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "abnormal cervical vertebra", + "aplastic manual digit 1", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal digit morphology", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "abnormal bone of pectoral complex morphology", + "abnormal cellular metabolic process", + "abnormal respiratory system", + "Abnormality of limb bone", + "flat anatomical entity in independent continuant", + "absent anatomical entity in the forelimb", + "abnormal arm", + "absent anatomical entity in the renal system", + "Abnormality of the upper limb", + "Abnormal nasal morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal erythroid lineage cell morphology", + "bone element hypoplasia in independent continuant", + "Delayed CNS myelination", + "Hyperactivity", + "aplasia or hypoplasia of manual digit", + "abnormal appendicular skeleton morphology", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormal trachea morphology", + "shape anatomical entity", + "Abnormal respiratory system morphology", + "Aplasia/Hypoplasia of facial bones", + "decreased size of the external ear", + "Abnormality of the hand", + "Aplasia/Hypoplasia of the thumb", + "absent anatomical entity in the ear", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "abnormal mouth", + "Abnormal ear morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal manus morphology", + "abnormal secondary palate morphology", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "Cerebellar hypoplasia", + "Abnormal metencephalon morphology", + "Aplasia/Hypoplasia of the sacrum", + "Abnormal sacrum morphology", + "Abnormality of the neck", + "abnormal vertebral column morphology", + "Abnormal external nose morphology", + "Aplasia/Hypoplasia involving the vertebral column", + "Low-set ears", + "Tracheoesophageal fistula", + "abnormally increased number of anatomical entity", + "abnormal respiratory system morphology", + "increased length of the anatomical line between pupils", + "Abnormality of the digestive system", + "Abnormal esophagus morphology", + "abnormal myelination in independent continuant", + "Aplasia involving bones of the extremities", + "All", + "increased qualitatively biological_process", + "aplasia or hypoplasia of skull", + "abnormal skin of body morphology", + "Abnormal tracheal morphology", + "absent forelimb zeugopod bone", + "abnormal respiratory tube morphology", + "delayed myelination", + "Chromosomal breakage induced by crosslinking agents", + "abnormal tracheobronchial tree morphology", + "abnormal biological_process in nervous system", + "abnormal alimentary part of gastrointestinal system", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "increased size of the anatomical entity", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Delayed myelination", + "abnormal brain morphology", + "Abnormality of brain morphology", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal central nervous system myelination", + "abnormal closing of the anatomical entity", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal cerebrospinal fluid morphology", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "abnormal ocular adnexa", + "abnormal location of ear", + "Decreased external ear position", + "abnormal anatomical entity topology in independent continuant", + "Reduced impulse control", + "Short attention span", + "abnormal location of external ear", + "Abnormal location of ears", + "abnormal ear morphology", + "Decreased anatomical entity position", + "Abnormality of the gastrointestinal tract", + "Webbed neck", + "Gastrointestinal atresia", + "Abnormality of the vertebral column", + "Macule", + "Abnormal oral morphology", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "Renal hypoplasia", + "increased qualitatively biological_process in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Cleft palate", + "Abnormal hand morphology", + "Localized skin lesion", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Aplasia/hypoplasia involving bones of the upper limbs", + "increased biological_process in independent continuant", + "Hyperpigmentation of the skin", + "abnormal penis", + "abnormal uterus", + "Abnormality of the skin", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "Short neck", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "Abnormality of the anus", + ], + }, + { + "id": "MONDO:0014638", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group T", + "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"], + "provided_by": "phenio_nodes", + "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", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0004808", + "HP:0001876", + "HP:0001873", + "HP:0009778", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0010628", + ], + "has_phenotype_label": [ + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", + "Short thumb", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Facial palsy", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "HP:0012638", + "UPHENO:0002433", + "HP:0010827", + "HP:0000271", + "UPHENO:0076772", + "UPHENO:0078730", + "HP:0011804", + "HP:0010628", + "UPHENO:0004508", + "HP:0000301", + "UPHENO:0003587", + "UPHENO:0076722", + "UPHENO:0081709", + "UPHENO:0087907", + "UPHENO:0080556", + "HP:0410008", + "HP:0000759", + "UPHENO:0076702", + "HP:0003011", + "HP:0000364", + "UPHENO:0002903", + "UPHENO:0052178", + "HP:0012639", + "UPHENO:0050625", + "HP:0000152", + "UPHENO:0052970", + "UPHENO:0002764", + "UPHENO:0080377", + "UPHENO:0002332", + "UPHENO:0005433", + "HP:0006824", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0002240", + "HP:0031704", + "HP:0000002", + "UPHENO:0081424", + "UPHENO:0081423", + "HP:0011017", + "HP:0030319", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0049587", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "UPHENO:0050121", + "UPHENO:0049990", + "HP:0001510", + "UPHENO:0049873", + "UPHENO:0002816", + "UPHENO:0049700", + "HP:0040012", + "UPHENO:0050113", + "HP:0003220", + "HP:0012130", + "UPHENO:0088162", + "HP:0001903", + "UPHENO:0088170", + "UPHENO:0004523", + "UPHENO:0079872", + "UPHENO:0086956", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "UPHENO:0087369", + "UPHENO:0085302", + "UPHENO:0001001", + "UPHENO:0002708", + "UPHENO:0080079", + "HP:0011873", + "HP:0005922", + "HP:0033127", + "UPHENO:0085984", + "UPHENO:0049748", + "UPHENO:0076723", + "HP:0009815", + "HP:0031910", + "UPHENO:0012541", + "UPHENO:0011498", + "UPHENO:0085371", + "HP:0025354", + "HP:0001876", + "UPHENO:0084987", + "HP:0011314", + "UPHENO:0012274", + "HP:0000234", + "UPHENO:0080114", + "UPHENO:0085068", + "UPHENO:0080555", + "UPHENO:0086700", + "UPHENO:0006910", + "UPHENO:0085144", + "HP:0009142", + "UPHENO:0002910", + "HP:0009602", + "UPHENO:0086045", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0081700", + "UPHENO:0046505", + "HP:0012145", + "UPHENO:0075159", + "UPHENO:0087339", + "UPHENO:0015280", + "UPHENO:0076740", + "UPHENO:0063722", + "HP:0001872", + "HP:0005927", + "UPHENO:0000543", + "HP:0004377", + "UPHENO:0085344", + "HP:0001881", + "UPHENO:0049874", + "UPHENO:0086049", + "HP:0000924", + "HP:0010987", + "HP:0001877", + "HP:0001909", + "HP:0045010", + "HP:0001324", + "HP:0002488", + "HP:0002664", + "UPHENO:0050845", + "BFO:0000020", + "HP:0011842", + "UPHENO:0087123", + "HP:0006265", + "UPHENO:0076727", + "BFO:0000001", + "HP:0009997", + "HP:0001873", + "HP:0006496", + "HP:0032251", + "UPHENO:0080352", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0002844", + "UPHENO:0001002", + "HP:0005528", + "HP:0011793", + "UPHENO:0002948", + "UPHENO:0001005", + "HP:0040064", + "UPHENO:0000541", + "UPHENO:0086005", + "UPHENO:0086635", + "HP:0000118", + "UPHENO:0076710", + "HP:0001172", + "HP:0011805", + "UPHENO:0082875", + "HP:0004322", + "UPHENO:0046707", + "UPHENO:0079876", + "UPHENO:0001003", + "UPHENO:0004459", + "UPHENO:0031839", + "BFO:0000002", + "UPHENO:0052231", + "UPHENO:0002536", + "HP:0001291", + "UPHENO:0021800", + "HP:0045060", + "HP:0011799", + "HP:0004808", + "UPHENO:0084928", + "UPHENO:0002320", + "UPHENO:0087355", + "HP:0005561", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0069254", + "UPHENO:0076718", + "UPHENO:0046624", + "HP:0000001", + "PATO:0000001", + "UPHENO:0050620", + "HP:0002715", + "UPHENO:0076703", + "UPHENO:0088166", + "HP:0011875", + "UPHENO:0002964", + "UPHENO:0080099", + "UPHENO:0080351", + "UPHENO:0046411", + "HP:0002813", + "UPHENO:0020584", + "HP:0020047", + "HP:0011893", + "UPHENO:0086173", + "UPHENO:0002908", + "UPHENO:0075195", + "HP:0011927", + "HP:0004275", + "UPHENO:0085118", + "HP:0011297", + "UPHENO:0005116", + "HP:0040070", + "HP:0040068", + "UPHENO:0085195", + "HP:0009381", + "UPHENO:0076724", + "UPHENO:0002880", + "UPHENO:0076675", + "UPHENO:0002830", + "UPHENO:0068971", + "UPHENO:0002905", + "UPHENO:0086589", + "UPHENO:0002896", + "HP:0000365", + "UPHENO:0084448", + "UPHENO:0084763", + "HP:0009778", + "UPHENO:0084761", + "UPHENO:0088186", + "UPHENO:0086633", + "HP:0001167", + "HP:0001507", + "HP:0009601", + "UPHENO:0080126", + "UPHENO:0084766", + "UPHENO:0077426", + "UPHENO:0087006", + "HP:0001155", + "HP:0000707", + "HP:0002817", + "UPHENO:0086172", + "HP:0011844", + "HP:0009115", + "UPHENO:0087501", + "UPHENO:0084447", + ], + "has_phenotype_closure_label": [ + "Abnormality of the nervous system", + "Abnormality of the seventh cranial nerve", + "abnormal cranial nerve morphology", + "paralysed anatomical entity", + "Abnormal skeletal muscle morphology", + "Abnormal muscle physiology", + "Abnormality of facial musculature", + "abnormality of cranial nerve physiology", + "abnormal facial muscle", + "abnormal facial nerve", + "abnormal muscle organ morphology", + "Abnormality of the peripheral nervous system", + "abnormal head morphology", + "Cranial nerve paralysis", + "decreased anatomical entity strength", + "Abnormal nervous system physiology", + "Abnormal nervous system morphology", + "Abnormal peripheral nerve morphology by anatomical site", + "Facial palsy", + "abnormal ear", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Abnormality of head or neck", + "decreased biological_process", + "abnormal craniocervical region", + "abnormality of anatomical entity physiology", + "Hearing abnormality", + "Hearing impairment", + "delayed growth", + "abnormal growth", + "Abnormal peripheral nervous system morphology", + "decreased size of the multicellular organism", + "delayed biological_process", + "abnormality of muscle organ physiology", + "Growth delay", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "abnormal nitrogen compound metabolic process", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Abnormal cranial nerve morphology", + "abnormal peripheral nervous system morphology", + "abnormal biological_process", + "abnormal primary metabolic process", + "abnormality of ear physiology", + "Abnormality of metabolism/homeostasis", + "abnormal cellular metabolic process", + "Abnormality of the head", + "Anemia", + "Abnormal cellular physiology", + "Abnormal erythrocyte morphology", + "Duplication of phalanx of hand", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal DNA metabolic process", + "abnormally decreased number of myeloid cell", + "abnormal long bone morphology", + "Duplication of bones involving the upper extremities", + "abnormal platelet", + "Abnormality of chromosome stability", + "abnormal manus", + "abnormal manual digit morphology in the manus", + "Abnormal cranial nerve physiology", + "changed biological_process rate", + "abnormal sensory perception", + "Abnormal myeloid cell morphology", + "decreased height of the multicellular organism", + "Abnormal finger phalanx morphology", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "Duplication of hand bones", + "abnormal face", + "abnormally decreased number of hematopoietic cell", + "paralysed cranial nerve", + "abnormal head", + "abnormal bone marrow morphology", + "decreased size of the anatomical entity in the independent continuant", + "Abnormal platelet count", + "abnormal platelet morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal hematopoietic cell morphology", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal leukocyte count", + "abnormal musculature", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormal cell morphology", + "abnormal number of anatomical enitites of type cell", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Acute leukemia", + "decreased qualitatively sensory perception of mechanical stimulus", + "entity", + "abnormal hematopoietic system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "Growth abnormality", + "abnormal cellular process", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal nervous system", + "Neoplasm", + "abnormal erythrocyte morphology", + "abnormally decreased number of anatomical entity", + "abnormal peripheral nervous system", + "Abnormality of the hand", + "Short digit", + "Abnormal thumb morphology", + "phenotype by ontology source", + "Abnormal cellular phenotype", + "Abnormal ear physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal phenotype by ontology source", + "decreased length of digit", + "abnormal cellular component organization", + "specifically dependent continuant", + "abnormal erythroid lineage cell morphology", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "Pancytopenia", + "decreased length of manual digit 1", + "Neoplasm by anatomical site", + "quality", + "abnormal craniocervical region morphology", + "continuant", + "decreased qualitatively biological_process", + "Abnormal upper limb bone morphology", + "All", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic system morphology", + "Abnormal digit morphology", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Muscle weakness", + "abnormal bone of pectoral complex morphology", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", + "Acute myeloid leukemia", + "abnormal cell", + "abnormal anatomical entity length", + "abnormally decreased number of cell", + "Short stature", + "abnormal number of anatomical enitites of type leukocyte", + "Leukemia", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal anatomical entity", + "abnormal immune system", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular immune system morphology", + "Aplasia/Hypoplasia of the thumb", + "abnormality of nervous system physiology", + "abnormal immune system morphology", + "phenotype", + "Abnormal hand morphology", + "Abnormality of the immune system", + "Abnormality of body height", + "Abnormal appendicular skeleton morphology", + "abnormal limb long bone morphology", + "Hematological neoplasm", + "Abnormal leukocyte morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "abnormal chromatin organization", + "Abnormal skeletal morphology", + "Aplasia/hypoplasia of the extremities", + "abnormal leukocyte morphology", + "abnormal bone marrow cell", + "Weakness of facial musculature", + "abnormal cell morphology", + "abnormal sensory perception of sound", + "Abnormal long bone morphology", + "Abnormality of thrombocytes", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal phalanx of manus morphology", + "abnormal skeletal system", + "abnormal forelimb morphology", + "abnormal anatomical entity morphology in the manus", + "abnormal size of anatomical entity", + "decreased length of manual digit", + "Abnormality of facial soft tissue", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Short finger", + "Aplasia/hypoplasia involving the skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal limb bone", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Abnormal finger morphology", + "Abnormality of the musculature", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "decreased muscle organ strength", + "Short thumb", + "abnormal phalanx morphology", + "Abnormality of limb bone", + "abnormal nervous system morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of the upper limb", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal arm", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal autopod region morphology", + "abnormal limb", + "aplasia or hypoplasia of skeleton", + "abnormal manual digit morphology in the independent continuant", + "abnormal manus morphology", + "abnormal nerve", + "abnormal organelle organization", + "abnormal digit", + "Abnormality of the face", + "Bone marrow hypocellularity", + "Abnormality of the ear", + "abnormal manual digit 1 morphology", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + ], }, ], }, diff --git a/backend/tests/integration/test_solr_autocomplete.py b/backend/tests/integration/test_solr_autocomplete.py index 4f04219c3..129a9e0a6 100644 --- a/backend/tests/integration/test_solr_autocomplete.py +++ b/backend/tests/integration/test_solr_autocomplete.py @@ -10,12 +10,9 @@ @pytest.mark.parametrize( "q, should_return", [ - # This fails because subclasses of Down syndrome come back first, - # we need an edge ngram version of the keyword tokenized field - # ("down syn", "Down syndrome"), + ("down syn", "Down syndrome"), ("marf", "Marfan syndrome"), - ("BRC", "BABAM2"), # expect BRCA1? - ("brc", "BABAM2"), # expect BRCA1? + ("BRCA", "BRCA1"), ], ) def test_autocomplete(q, should_return): diff --git a/backend/tests/integration/test_solr_search.py b/backend/tests/integration/test_solr_search.py index 4b7e56876..2eda3e97e 100644 --- a/backend/tests/integration/test_solr_search.py +++ b/backend/tests/integration/test_solr_search.py @@ -148,3 +148,27 @@ def test_association_table(): assert association_results assert association_results.total > 5 assert association_results.items[0].direction == AssociationDirectionEnum.outgoing + + +@pytest.mark.parametrize( + "id", + [ + "MONDO:0007523", # Ehlers-Danlos syndrome, hypermobility type + "MONDO:0019391", # Fanconi anemia + "MONDO:0018954", # Loeys-Dietz syndrome + "MONDO:0011518", # Wiedemann-Steiner syndrome + "HGNC:4851", # HTT + "HGNC:3603", # FBN1 + "HP:0001166", # Arachnodactyly + "HP:0001631", # Atrial septal defect + "UBERON:0000948", # heart + "UBERON:0006585", # vestibular organ + ], +) +def test_empty_search(id): + si = SolrImplementation() + response = si.autocomplete("*:*") + assert response + assert response.total > 0 + + assert id in [x.id for x in response.items] diff --git a/backend/tests/unit/test_solr_entity_utils.py b/backend/tests/unit/test_solr_entity_utils.py index 7616afb23..88dbeb203 100644 --- a/backend/tests/unit/test_solr_entity_utils.py +++ b/backend/tests/unit/test_solr_entity_utils.py @@ -1,6 +1,9 @@ +from unittest.mock import patch + import pytest from monarch_py.datamodels.model import Association, Entity from monarch_py.implementations.solr.solr_implementation import SolrImplementation +from monarch_py.implementations.solr.solr_query_utils import entity_boost @pytest.mark.parametrize( @@ -49,3 +52,11 @@ def test_get_counterpart_entity(association, this_entity, other_entity): assert ( associated_entity == other_entity ), f"Associated entity is not as expected. Expected: {other_entity}, got: {associated_entity}" + + +def test_entity_boost_with_empty_calls_blank_search_boost(): + # mock blank_search_boost() and assert that it's called + with patch("monarch_py.implementations.solr.solr_query_utils.blank_search_boost") as mock_blank_search_boost: + mock_blank_search_boost.return_value = "" + entity_boost(empty_search=True) + mock_blank_search_boost.assert_called_once() diff --git a/backend/tests/unit/test_solr_implementation.py b/backend/tests/unit/test_solr_implementation.py index d952311a9..86a86b8d4 100644 --- a/backend/tests/unit/test_solr_implementation.py +++ b/backend/tests/unit/test_solr_implementation.py @@ -9,4 +9,4 @@ def test_get_counterpart_entities_limit(): si = SolrImplementation() si.get_counterpart_entities("MONDO:0007947") assert mock_get_associations.called - assert mock_get_associations.call_args_list[0].kwargs['limit'] == 1000 + assert mock_get_associations.call_args_list[0].kwargs["limit"] == 1000 diff --git a/backend/tests/unit/test_solr_queries.py b/backend/tests/unit/test_solr_queries.py index e14494355..018447a62 100644 --- a/backend/tests/unit/test_solr_queries.py +++ b/backend/tests/unit/test_solr_queries.py @@ -14,7 +14,7 @@ build_search_query, obsolete_unboost, entity_predicate_boost, - category_boost, + category_boost, blank_search_boost, ) from monarch_py.utils.utils import compare_dicts, dict_diff @@ -158,3 +158,11 @@ def test_category_boost_with_taxon(): assert "biolink:Gene" in boost assert "100.0" in boost assert "NCBITaxon:9606" in boost + + +def test_blank_search_boost(): + boost = blank_search_boost() + assert boost.startswith("product(") + assert boost.endswith(")") + assert "if(termfreq(id,\"MONDO:0007523\"),12,1)" in boost + diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json index f2566fab1..72ec3b7ec 100644 --- a/frontend/fixtures/autocomplete.json +++ b/frontend/fixtures/autocomplete.json @@ -3,38 +3,6 @@ "offset": 0, "total": 218, "items": [ - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": [ - "MSH:D005198", - "SNOMEDCT_US:236468006", - "SNOMEDCT_US:44673006", - "UMLS:C0341703" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "De toni-fanconi-debre syndrome", - "Renal tubular fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "HP", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, { "id": "MONDO:0009215", "category": "biolink:Disease", @@ -5482,5050 +5450,3420 @@ "score": null }, { - "id": "HGNC:26144", - "category": "biolink:Gene", - "name": "PALB2", - "full_name": "partner and localizer of BRCA2", + "id": "MONDO:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "full_name": null, "deprecated": null, - "description": null, - "xref": ["ENSEMBL:ENSG00000083093", "OMIM:610355"], - "provided_by": "hgnc_gene_nodes", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": "Homo sapiens", - "symbol": "PALB2", + "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": [ - "FLJ21816", - "FANCN", - "Fanconi anemia, complementation group N" + "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": "HGNC", + "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", - "HP:0000582", - "HP:0000470", - "HP:0000483", - "HP:0000377", - "HP:0000238", + "HP:0040012", "HP:0009777", - "HP:0100615", - "HP:0010469", - "HP:0002017", - "HP:0002575", - "HP:0001249", - "HP:0001882", - "HP:0000508", - "HP:0001824", - "HP:0001824", - "HP:0000518", - "HP:0030406", - "HP:0000453", - "HP:0012432", - "HP:0005344", - "HP:0007874", - "HP:0002861", - "HP:0002861", - "HP:0000252", - "HP:0000252", - "HP:0008053", - "HP:0000952", - "HP:0000957", - "HP:0040071", - "HP:0100026", - "HP:0004396", - "HP:0012639", - "HP:0100587", - "HP:0002023", + "HP:0001627", "HP:0002023", - "HP:0001433", - "HP:0002650", - "HP:0002667", - "HP:0000047", - "HP:0001738", "HP:0002984", - "HP:0000316", - "HP:0000316", - "HP:0002910", - "HP:0002863", - "HP:0000864", - "HP:0004808", - "HP:0002254", - "HP:0002119", - "HP:0000027", - "HP:0001392", - "HP:0001562", - "HP:0001510", - "HP:0001873", - "HP:0001871", - "HP:0000568", - "HP:0000568", - "HP:0000504", - "HP:0000505", - "HP:0000520", - "HP:0006725", - "HP:0001760", - "HP:0001763", - "HP:0001770", - "HP:0000492", - "HP:0000478", - "HP:0000486", - "HP:0001631", - "HP:0001631", - "HP:0001636", - "HP:0001639", - "HP:0001629", - "HP:0000324", - "HP:0001643", - "HP:0001646", - "HP:0000347", - "HP:0001679", - "HP:0000340", - "HP:0001671", - "HP:0012334", - "HP:0000364", - "HP:0000365", - "HP:0005249", - "HP:0011027", - "HP:0006501", - "HP:0001511", - "HP:0001518", - "HP:0001537", - "HP:0002885", - "HP:0002894", - "HP:0000218", - "HP:0012210", - "HP:0002896", - "HP:0002823", - "HP:0002827", - "HP:0002817", - "HP:0000268", - "HP:0000286", - "HP:0000286", - "HP:0000953", - "HP:0003221", - "HP:0003220", - "HP:0010293", - "HP:0000813", - "HP:0000819", - "HP:0012745", - "HP:0004349", - "HP:0003022", - "HP:0003006", - "HP:0004389", - "HP:0003003", - "HP:0003002", - "HP:0003002", - "HP:0003002", - "HP:0004322", - "HP:0001915", - "HP:0001903", - "HP:0000639", - "HP:0006824", - "HP:0005522", - "HP:0004209", - "HP:0009778", - "HP:0001000", - "HP:0001053", - "HP:0100760", - "HP:0002251", - "HP:0003577", - "HP:0002245", - "HP:0003418", - "HP:0100592", - "HP:0002039", - "HP:0100542", - "HP:0002007", - "HP:0002027", - "HP:0002716", - "HP:0000125", - "HP:0000130", - "HP:0000122", - "HP:0006265", - "HP:0000135", - "HP:0012125", - "HP:0000175", - "HP:0000006", - "HP:0000007", - "HP:0000010", - "HP:0002664", - "HP:0008897", - "HP:0007565", + "HP:0000126", "HP:0000028", - "HP:0000035", - "HP:0001347", - "HP:0025318", - "HP:0012041", - "HP:0000072", - "HP:0000079", - "HP:0000085", - "HP:0000083", - "HP:0008678", - "HP:0100867", - "HP:0007400", - "HP:0006101", - "HP:0001263", - "HP:0002414", - "HP:0001199", - "HP:0001172" + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0001245", + "HP:0003774", + "HP:0025023" ], "has_phenotype_label": [ - "Ectopic kidney", - "Upslanted palpebral fissure", - "Short neck", - "Astigmatism", - "Abnormal pinna morphology", - "Hydrocephalus", + "Chromosome breakage", "Absent thumb", - "Ovarian neoplasm", - "Absent testis", - "Nausea and vomiting", - "Tracheoesophageal fistula", - "Intellectual disability", - "Leukopenia", - "Ptosis", - "Weight loss", - "Weight loss", - "Cataract", - "Primary peritoneal carcinoma", - "Choanal atresia", - "Chronic fatigue", - "Abnormal carotid artery morphology", - "Almond-shaped palpebral fissure", - "Melanoma", - "Melanoma", - "Microcephaly", - "Microcephaly", - "Aplasia/Hypoplasia of the iris", - "Jaundice", - "Cafe-au-lait spot", - "Abnormal morphology of ulna", - "Arteriovenous malformation", - "Poor appetite", - "Abnormal nervous system morphology", - "Abnormal preputium morphology", - "Anal atresia", + "Abnormal heart morphology", "Anal atresia", - "Hepatosplenomegaly", - "Scoliosis", - "Nephroblastoma", - "Hypospadias", - "Exocrine pancreatic insufficiency", "Hypoplasia of the radius", - "Hypertelorism", - "Hypertelorism", - "Elevated hepatic transaminase", - "Myelodysplasia", - "Abnormality of the hypothalamus-pituitary axis", - "Acute myeloid leukemia", - "Intermittent diarrhea", - "Ventriculomegaly", - "Azoospermia", - "Abnormality of the liver", - "Oligohydramnios", - "Growth delay", - "Thrombocytopenia", - "Abnormality of blood and blood-forming tissues", - "Microphthalmia", - "Microphthalmia", - "Abnormality of vision", - "Visual impairment", - "Proptosis", - "Pancreatic adenocarcinoma", - "Abnormal foot morphology", - "Pes planus", - "Toe syndactyly", - "Abnormal eyelid morphology", - "Abnormality of the eye", - "Strabismus", - "Atrial septal defect", - "Atrial septal defect", - "Tetralogy of Fallot", - "Hypertrophic cardiomyopathy", - "Ventricular septal defect", - "Facial asymmetry", - "Patent ductus arteriosus", - "Abnormal aortic valve morphology", - "Micrognathia", - "Abnormal aortic morphology", - "Sloping forehead", - "Abnormal cardiac septum morphology", - "Extrahepatic cholestasis", - "Hearing abnormality", - "Hearing impairment", - "Functional intestinal obstruction", - "Abnormal fallopian tube morphology", - "Aplasia/Hypoplasia of the radius", - "Intrauterine growth retardation", - "Small for gestational age", - "Umbilical hernia", - "Medulloblastoma", - "Neoplasm of the pancreas", - "High palate", - "Abnormal renal morphology", - "Neoplasm of the liver", - "Abnormality of femur morphology", - "Hip dislocation", - "Abnormality of the upper limb", - "Dolichocephaly", - "Epicanthus", - "Epicanthus", - "Hyperpigmentation of the skin", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", - "Aplasia/Hypoplasia of the uvula", - "Bicornuate uterus", - "Diabetes mellitus", - "Short palpebral fissure", - "Reduced bone mineral density", - "Hypoplasia of the ulna", - "Neuroblastoma", - "Intestinal pseudo-obstruction", - "Colon cancer", - "Breast carcinoma", - "Breast carcinoma", - "Breast carcinoma", - "Short stature", - "Aplastic anemia", - "Anemia", - "Nystagmus", - "Cranial nerve paralysis", - "Pyridoxine-responsive sideroblastic anemia", - "Clinodactyly of the 5th finger", - "Short thumb", - "Abnormality of skin pigmentation", - "Hypopigmented skin patches", - "Clubbing of toes", - "Aganglionic megacolon", - "Congenital onset", - "Meckel diverticulum", - "Back pain", - "Peritoneal abscess", - "Anorexia", - "Abnormal localization of kidney", - "Frontal bossing", - "Abdominal pain", - "Lymphadenopathy", - "Pelvic kidney", - "Abnormality of the uterus", - "Unilateral renal agenesis", - "Aplasia/Hypoplasia of fingers", - "Hypogonadism", - "Prostate cancer", - "Cleft palate", - "Autosomal dominant inheritance", - "Autosomal recessive inheritance", - "Recurrent urinary tract infections", - "Neoplasm", - "Postnatal growth retardation", - "Multiple cafe-au-lait spots", + "Hydronephrosis", "Cryptorchidism", - "Abnormal testis morphology", - "Hyperreflexia", - "Ovarian carcinoma", - "Decreased fertility in males", - "Hydroureter", - "Abnormality of the urinary system", - "Horseshoe kidney", - "Renal insufficiency", - "Renal hypoplasia/aplasia", - "Duodenal stenosis", - "Irregular hyperpigmentation", - "Finger syndactyly", - "Global developmental delay", - "Spina bifida", - "Triphalangeal thumb", - "Abnormal thumb morphology" + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia" ], "has_phenotype_closure": [ - "HP:0005918", - "UPHENO:0021800", - "HP:0010301", - "UPHENO:0087665", - "UPHENO:0088123", - "UPHENO:0051003", - "UPHENO:0087858", - "HP:0045005", - "HP:0410043", - "UPHENO:0076707", - "HP:0003468", - "HP:0002414", - "UPHENO:0076744", - "UPHENO:0051077", - "HP:0012758", - "UPHENO:0078215", - "UPHENO:0078288", - "UPHENO:0078267", - "HP:0006101", - "HP:0100867", - "HP:0002246", + "HP:0012732", + "HP:0002034", + "UPHENO:0087346", + "UPHENO:0002714", + "UPHENO:0076773", + "UPHENO:0076783", + "HP:0012718", + "UPHENO:0076735", + "HP:0002589", + "UPHENO:0002725", + "HP:0011100", + "HP:0025023", + "UPHENO:0063629", + "HP:0002250", + "HP:0011024", "HP:0012211", - "UPHENO:0086132", + "HP:0011277", + "HP:0003774", "UPHENO:0002411", - "HP:0000083", - "UPHENO:0041465", - "HP:0000085", - "UPHENO:0002806", - "HP:0025633", - "HP:0012041", - "HP:0000144", - "HP:0025318", - "UPHENO:0083263", - "UPHENO:0050079", - "HP:0001347", - "HP:0000028", - "UPHENO:0053644", - "HP:0008897", - "HP:0000010", + "UPHENO:0088142", + "UPHENO:0002655", 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"UPHENO:0086201", - "HP:0002894", - "HP:0007379", - "HP:0004328", - "UPHENO:0075208", - "HP:0000811", - "HP:0200006", + "HP:0004097", + "HP:0000025", + "UPHENO:0020950", + "HP:0010461", + "HP:0009380", + "UPHENO:0002378", + "HP:0100871", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0010946", "UPHENO:0080382", - "UPHENO:0080377", - "HP:0002007", - "UPHENO:0056237", + "HP:0012243", "UPHENO:0087846", - "HP:0025354", - "HP:0001646", + "UPHENO:0075949", + "HP:0012874", "UPHENO:0049970", - "HP:0034684", - "HP:0001627", - "UPHENO:0003053", - "UPHENO:0087100", - "UPHENO:0082444", - "UPHENO:0002371", "UPHENO:0049701", "UPHENO:0078729", - "UPHENO:0041226", + "UPHENO:0049985", + "UPHENO:0080369", "UPHENO:0086023", - "HP:0001167", - "HP:0001510", - "UPHENO:0080209", + "UPHENO:0052178", "UPHENO:0087802", - "HP:0000234", - "HP:0000324", - "UPHENO:0049587", - "UPHENO:0085144", - "UPHENO:0026183", - "HP:0001999", - "UPHENO:0087894", - "HP:0025031", - "UPHENO:0080352", - "HP:0034930", - "HP:0410014", - "HP:0031653", - "HP:0009826", - "UPHENO:0081204", - "HP:0009726", - "HP:0200007", - "HP:0009821", - "UPHENO:0081792", - "UPHENO:0088170", - "HP:0006503", - "UPHENO:0080187", - "HP:0002623", - "HP:0031654", - "HP:0002984", - "UPHENO:0081091", - "UPHENO:0087547", - "UPHENO:0080165", - "HP:0002814", - "UPHENO:0079876", - "UPHENO:0072194", - "UPHENO:0059929", - "UPHENO:0055730", - "UPHENO:0078347", - "HP:0000125", - "HP:0001939", - "UPHENO:0050845", - "HP:0012379", - "HP:0004322", - "HP:0030791", - "UPHENO:0002844", - "UPHENO:0075995", - "UPHENO:0075175", - "HP:0002488", - "HP:0004325", - "UPHENO:0041203", - "HP:0002254", - "UPHENO:0087203", - "UPHENO:0082834", - "HP:0002014", + "UPHENO:0085873", + "UPHENO:0081755", "UPHENO:0087006", - "HP:0002119", - "UPHENO:0076761", - "UPHENO:0086680", - "UPHENO:0001440", + "HP:0011961", + "UPHENO:0050101", + "UPHENO:0082875", + "UPHENO:0046707", "HP:0000080", - "UPHENO:0075852", - "HP:0001562", - "HP:0002827", - "HP:0001197", - "UPHENO:0075949", - "UPHENO:0000541", - "HP:0002031", - "HP:0001373", - "UPHENO:0000543", - "HP:0030065", - "UPHENO:0087510", - "UPHENO:0086005", - "UPHENO:0085189", - "UPHENO:0085195", - "HP:0025028", - "UPHENO:0085068", - "UPHENO:0002261", - "HP:0025461", - "UPHENO:0084987", - "UPHENO:0082682", - "HP:0000309", - "HP:0020047", - "UPHENO:0085070", - "UPHENO:0086049", - "UPHENO:0085118", - "UPHENO:0086173", - "HP:0030061", - "UPHENO:0050433", - "UPHENO:0075219", - "HP:0000568", - "UPHENO:0050236", - "UPHENO:0052164", - "UPHENO:0020748", - "UPHENO:0081584", - "HP:0000520", - "UPHENO:0085881", - "UPHENO:0050113", - "HP:0033019", "UPHENO:0087973", - "HP:0006725", - "UPHENO:0086628", - "UPHENO:0018424", - "HP:0001924", - "UPHENO:0081575", - "UPHENO:0041369", - "UPHENO:0002907", - "HP:0011994", - "UPHENO:0082356", - "HP:0001631", - "UPHENO:0041565", - "UPHENO:0080393", - "UPHENO:0082671", - "UPHENO:0087339", - "UPHENO:0078179", - "UPHENO:0080585", - "UPHENO:0078125", - "HP:0010674", - "UPHENO:0002443", - "HP:0001217", - "UPHENO:0078375", - "HP:0001159", - "UPHENO:0049622", - "UPHENO:0049586", - "HP:0000549", - "HP:0000486", - "HP:0000496", - "HP:0001732", - "UPHENO:0082794", - "UPHENO:0033559", - "HP:0009815", - "UPHENO:0015324", - "HP:0001770", - "UPHENO:0086143", - "UPHENO:0075655", - "HP:0005120", - "UPHENO:0086863", - "HP:0001707", - "UPHENO:0087612", - "UPHENO:0082454", - "HP:0001679", - "HP:0002086", - "UPHENO:0076765", - "HP:0002683", - "UPHENO:0084715", - "HP:0011603", - "HP:0009381", - "HP:0011121", - "UPHENO:0066927", - "UPHENO:0084511", - "UPHENO:0086144", - "UPHENO:0015327", - "UPHENO:0084482", - "HP:0001199", - "UPHENO:0076779", - "UPHENO:0000996", - "HP:0001654", - "HP:0001714", - "HP:0011545", - "HP:0010161", - "UPHENO:0015317", - "UPHENO:0086858", - "HP:0000347", - "UPHENO:0015319", - "UPHENO:0076809", - "UPHENO:0041053", - "HP:0030962", - "UPHENO:0077800", - "HP:0001638", - "UPHENO:0020809", - "UPHENO:0084729", - "UPHENO:0021791", - "HP:5200241", - "UPHENO:0084734", - "UPHENO:0087018", - "UPHENO:0015290", - "UPHENO:0033603", - "UPHENO:0080387", - "HP:0012130", - "HP:0002585", - "UPHENO:0087309", - "HP:0001643", - "HP:0000069", - "UPHENO:0087070", - "UPHENO:0076743", - "UPHENO:0081141", - "UPHENO:0046707", - "UPHENO:0088116", - "HP:0009116", - "HP:0100273", - "HP:0012531", - "HP:0001763", - "UPHENO:0086978", - "HP:0011873", - "UPHENO:0081788", - "HP:0031816", - "HP:0000153", - "HP:0100491", - "HP:0100887", - "UPHENO:0051267", - "HP:0000464", - "HP:0002692", - "UPHENO:0083646", - "UPHENO:0041083", - "HP:0000290", - "UPHENO:0082900", - "UPHENO:0002471", - "UPHENO:0086088", - "UPHENO:0078622", - "UPHENO:0041151", - "UPHENO:0086198", - "UPHENO:0087531", - "UPHENO:0005518", - "UPHENO:0081594", - "UPHENO:0052231", - "HP:0011794", - "UPHENO:0052970", - "HP:0000365", - "HP:0000708", - "HP:0004808", - "HP:0005249", - "UPHENO:0050625", - "HP:0009122", - "UPHENO:0050696", - "HP:0030060", - "HP:0100627", - "UPHENO:0019888", - "UPHENO:0005642", - "UPHENO:0076810", - "UPHENO:0081436", - "UPHENO:0002751", - "HP:0000340", - "UPHENO:0077877", - "HP:0001384", - "UPHENO:0033616", - "HP:0030680", - "UPHENO:0075684", - "HP:0003549", - "HP:0001537", - "HP:0004298", - "UPHENO:0086122", - "UPHENO:0084447", - "HP:0010935", - "HP:0012432", - "HP:0100790", - "HP:0010866", - "HP:0030895", - "UPHENO:0076794", - "HP:0011355", - "HP:0100836", - "HP:0004375", - "HP:0000163", - "HP:0000218", - "UPHENO:0086824", - "UPHENO:0034110", - "UPHENO:0076786", - "HP:0000005", - "HP:0009380", - "UPHENO:0087232", - "HP:0002896", - "UPHENO:0002896", - "HP:0001639", - "UPHENO:0076806", - "HP:0040069", - "UPHENO:0020967", - "UPHENO:0087558", - "UPHENO:0079871", - "UPHENO:0002813", - "HP:0000504", - "UPHENO:0087980", - "UPHENO:0075945", - "HP:0001903", - "UPHENO:0076767", - "UPHENO:0075159", - "HP:0000316", - "UPHENO:0052675", - "UPHENO:0001001", - "UPHENO:0087892", - "HP:0000122", - "HP:0012337", - "UPHENO:0086091", - "HP:0002644", - "HP:0004796", - "UPHENO:0075148", - "HP:0000268", - "HP:0003003", - "UPHENO:0031839", - "HP:0040194", - "UPHENO:0080602", - "UPHENO:0001208", - "HP:0009118", - "HP:0000286", - "UPHENO:0087058", - "HP:0011458", - "UPHENO:0087928", - "HP:0003312", - "UPHENO:0050034", - "UPHENO:0087307", - "HP:0003220", - "UPHENO:0085876", - "UPHENO:0049700", - "UPHENO:0049873", - "UPHENO:0049990", - "HP:0004389", - "HP:0002597", - "UPHENO:0050116", - "HP:0003221", - "UPHENO:0020041", - "HP:0011017", - "UPHENO:0041644", - "UPHENO:0087214", - "UPHENO:0081570", - "UPHENO:0088088", - "UPHENO:0021823", - "UPHENO:0075843", - "HP:0000172", - "UPHENO:0076748", - "UPHENO:0041821", - "HP:0100542", - "HP:0000813", - "HP:0000130", - "UPHENO:0086817", - "UPHENO:0041664", - "UPHENO:0041395", - "UPHENO:0080369", - "HP:0011014", - "HP:0001952", - "UPHENO:0069523", - "UPHENO:0076791", - "UPHENO:0033604", - "HP:0001053", - "HP:0012243", - "UPHENO:0081605", - "UPHENO:0049628", - "HP:0100760", - "UPHENO:0087907", - "UPHENO:0046753", - "HP:0012745", - "UPHENO:0063513", - "HP:0002039", - "HP:0002715", - "HP:0004348", - "UPHENO:0082835", - "HP:0004349", - "HP:0011849", - "HP:0003006", - "HP:0007565", - "HP:0030063", - "UPHENO:0001042", - "UPHENO:0049985", - "HP:0030067", - "HP:0004376", - "HP:0000104", - "UPHENO:0076783", - "UPHENO:0042775", - "UPHENO:0077872", - "HP:0100834", - "HP:0005927", - "HP:0008373", - "HP:0002579", - "UPHENO:0076773", - "HP:0004209", - "HP:0003002", - "HP:0011354", - "UPHENO:0077885", - "UPHENO:0087481", - "UPHENO:0054299", - "UPHENO:0054261", - "UPHENO:0003013", - "HP:0000765", - "HP:0001263", - "UPHENO:0005982", - "UPHENO:0002931", - "UPHENO:0081424", - "UPHENO:0080351", - "HP:0012145", - "HP:0001915", - "UPHENO:0003074", - "HP:0001877", - "UPHENO:0088162", - "HP:0011821", - "HP:0012547", - "UPHENO:0050613", - "HP:0011389", - "HP:0007670", - "HP:0031105", - "UPHENO:0078736", "HP:0000035", - "HP:0001751", - "UPHENO:0079837", - "HP:0100022", - "UPHENO:0079833", - "HP:0045010", - "HP:0001642", - "HP:0006501", - "UPHENO:0005116", - "HP:0031910", - "UPHENO:0002708", - "HP:0006824", - "UPHENO:0053298", - "UPHENO:0081709", - "HP:0009484", - "HP:0005522", - "HP:0010786", - "UPHENO:0076736", - "HP:0009179", - "HP:0011446", - "HP:0030084", - "UPHENO:0053580", - "UPHENO:0069293", - "HP:0040019", - "HP:0000377", - "HP:0004097", - "UPHENO:0084829", - "HP:0000864", - "UPHENO:0086150", - "HP:0011927", + "HP:0012622", + "HP:0000078", + "HP:0006496", "HP:0009778", - "HP:0011027", - "UPHENO:0046411", - "UPHENO:0077892", - "UPHENO:0002964", - "UPHENO:0088140", - "UPHENO:0087369", - "HP:0002270", - "UPHENO:0087355", - "HP:0410015", - "HP:0003319", - "HP:0012331", - "UPHENO:0081451", - "UPHENO:0026980", - "UPHENO:0008593", - "UPHENO:0087602", - "UPHENO:0087121", - "UPHENO:0005852", - "UPHENO:0087933", - "HP:0000525", - "UPHENO:0088183", - "HP:0001000", - "UPHENO:0021045", - "HP:0003674", + "HP:0009623", + "UPHENO:0050108", + "HP:0000107", + "HP:0001446", + "UPHENO:0084841", + "HP:0009484", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", "UPHENO:0081423", - "HP:0012823", - "UPHENO:0081790", - "HP:0031797", - "UPHENO:0021038", - "UPHENO:0086612", - "UPHENO:0056072", - "UPHENO:0050121", - "HP:0001549", - "UPHENO:0019477", - "HP:0100587", - "UPHENO:0079835", - "UPHENO:0042834", - "UPHENO:0072195", - "UPHENO:0080595", - "UPHENO:0041041", - "UPHENO:0082905", - "UPHENO:0002219", - "HP:0011218", - "UPHENO:0055092", - "UPHENO:0005994", - "UPHENO:0084465", - "HP:0000952", - "HP:0430000", - "HP:0002027", - "HP:0002716", - "UPHENO:0080221", - "UPHENO:0083530", - "HP:0002733", - "UPHENO:0075161", - "HP:0008678" + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0000541" ], "has_phenotype_closure_label": [ - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", - "Abnormality of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormal form of the vertebral bodies", - "Neural tube defect", - "abnormal embryonic tissue morphology", - "Abnormal neural tube morphology", - "abnormal vertebra morphology", - "abnormal arch of centrum of vertebra", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "Spina bifida", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal spinal cord morphology", - "Neurodevelopmental delay", - "abnormally fused manual digit and manual digit", - "abnormally fused manual digit and anatomical entity", - "Small intestinal stenosis", - "abnormal duodenum morphology", + "Abnormal intestine morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal rectum", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormality of the gastrointestinal tract", + "Rectal atresia", + "Anorectal anomaly", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "Morphological abnormality of the gastrointestinal tract", + "rectum atresia", + "alimentary part of gastrointestinal system atresia", + "Chronic kidney disease", "Renal insufficiency", - "Abnormal vertebral morphology", - "non-functional anatomical entity", - "Abnormal renal physiology", - "shape kidney", - "Hypoplasia of the radius", - "Functional abnormality of the gastrointestinal tract", - "Recurrent urinary tract infections", - "Upper limb undergrowth", - "forelimb zeugopod bone hypoplasia", - "Short long bone", - "anus atresia", - "abnormal skull morphology", - "abnormal tube formation", - "abnormal palpebral fissure", - "Aplasia/hypoplasia involving forearm bones", - "Short forearm", - "sloped forehead", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "decreased length of long bone", - "curved anatomical entity", - "anatomical entity hypoplasia in independent continuant", - "Abnormal ureter morphology", - "abnormality of exocrine pancreas physiology", - "delayed biological_process", - "abnormality of gland physiology", - "Exocrine pancreatic insufficiency", - "abnormal size of brain ventricle", - "Frontal bossing", - "abnormal urethra", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "Renal neoplasm", - "Abnormal prostate morphology", - "Scoliosis", - "abnormal cardiac atrium morphology", - "Abnormal curvature of the vertebral column", - "Hepatosplenomegaly", - "abnormal biological_process in independent continuant", + "Intestinal atresia", "non-functional kidney", - "decreased size of the anatomical entity", - "Abnormal liver morphology", - "Abnormal endocrine morphology", - "abnormal leg", - "anatomical entity hypoplasia", - "abnormal cardiac ventricle morphology", - "abnormal hepatobiliary system morphology", - "anatomical entity hypoplasia in face", - "abnormal spleen", - "Abnormal oral cavity morphology", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "abnormality of kidney physiology", + "Small thenar eminence", + "abnormal musculature of limb", + "Abnormality of the musculature of the upper limbs", + "Abnormal palm morphology", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "Abnormality of the musculature of the hand", + "abnormal musculature", + "Abnormality of the thenar eminence", + "Abnormality of the musculature of the limbs", + "bone element hypoplasia in independent continuant", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal long bone morphology", "abnormal radius bone morphology", - "Digestive system neoplasm", - "increased size of the viscus", - "Abnormal abdomen morphology", - "Abnormal myeloid cell morphology", - "abnormal pancreas", - "increased size of the spleen", - "Abnormality of the integument", - "Epicanthus", - "Abnormality of the cardiovascular system", - "abnormal chemical homeostasis", - "abnormal anus", - "Neuroectodermal neoplasm", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormality of the forehead", - "abnormally decreased number of anatomical entity", - "Pulmonic stenosis", - "Abnormal peripheral nervous system morphology", - "abnormal limb long bone morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", "Abnormal long bone morphology", - "absent sperm in the semen", + "Upper limb undergrowth", + "abnormal renal system", + "Abnormality of the anus", + "abnormally dilated renal pelvis", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormal heart morphology", + "radius bone hypoplasia", + "abnormal spatial pattern of anatomical entity", + "abnormal heart morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", "absent anatomical entity in the limb", - "Abnormal spleen morphology", - "abnormal semi-lunar valve morphology", - "increased biological_process", - "abnormal external ear", - "Prostate cancer", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of globe location", - "Strabismus", - "abnormal prostate gland", - "aplasia or hypoplasia of iris", - "Cafe-au-lait spot", - "increased length of the anatomical entity", - "increased pigmentation in independent continuant", - "decreased length of forelimb zeugopod bone", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "Abnormality of the pancreas", - "abnormal biliary system", - "abnormality of cranial nerve physiology", - "abnormal pigmentation", - "Abnormality of the head", - "Abnormality of the liver", - "abnormal liver", - "Abnormality of the endocrine system", - "Jaundice", - "abnormal endocrine system", - "Ocular anterior segment dysgenesis", - "Aplasia/Hypoplasia affecting the uvea", - "Aplasia/Hypoplasia of the iris", - "flat anatomical entity in independent continuant", - "abnormal mandible morphology", - "abnormal penis", - "herniated anatomical entity", - "abnormal size of spleen", - "increased qualitatively biological_process in independent continuant", - "Abnormal ileum morphology", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormality of the musculature", + "abnormal digit", + "abnormal organelle organization", "Anal atresia", - "abnormally formed anterior chamber of eyeball", - "Abnormal forebrain morphology", - "Hypogonadism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of the abdominal organs", - "Decreased head circumference", - "abnormal size of skull", - "abnormal embryo morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal forebrain morphology", - "abnormal shape of cornea", - "abnormal anatomical entity morphology in the brain", - "Neoplasm by histology", - "abnormal shape of palpebral fissure", - "shape digit", - "Clubbing", - "Postnatal growth retardation", - "decreased size of the multicellular organism", - "abnormal vertebral column morphology", - "Abnormality of the inner ear", - "Abnormal systemic arterial morphology", - "abnormal systemic arterial system morphology", - "Short neck", - "Nephroblastoma", - "Aplasia/Hypoplasia involving the central nervous system", - "Mode of inheritance", - "Abnormal anus morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "abnormal size of liver", - "abnormal anatomical entity mass density", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "abnormal blood vessel morphology", - "Abnormal venous morphology", - "Nausea and vomiting", - "abnormal vascular system morphology", - "Abnormality of the spleen", - "Abnormal blood vessel morphology", - "radius bone hypoplasia", + "Neoplasm", + "Cryptorchidism", + "abnormal manual digit morphology in the independent continuant", + "anatomical entity hypoplasia", + "aplasia or hypoplasia of skeleton", "aplasia or hypoplasia of anatomical entity", - "Abnormality of the vasculature", - "abnormal common carotid artery plus branches morphology", - "abnormal vasculature", - "abnormal genitourinary system", - "Embryonal renal neoplasm", - "Constitutional symptom", - "Absent testis", - "abnormal posterior nasal aperture morphology", - "abnormal cellular metabolic process", - "abnormal ureter morphology", - "Abnormality of the choanae", - "abnormal nose", - "abnormally decreased number of myeloid cell", - "abnormal incomplete closing of the abdominal wall", - "Urinary tract neoplasm", - "Choanal atresia", - "Congenital onset", - "Abnormal skull morphology", - "internal naris atresia", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal olfactory system morphology", - "Clinodactyly", - "Abnormal right ventricle morphology", - "Hypertelorism", - "abnormal integument", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "Primary peritoneal carcinoma", - "Abnormality of movement", - "Neoplasm of the large intestine", - "Neoplasm of the gastrointestinal tract", - "opaque anatomical entity", - "Weight loss", - "Abnormality of body weight", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of the upper limb", + "Abnormality of digestive system morphology", + "abnormal limb", + "anus atresia", + "Dilatation of the renal pelvis", + "Abnormality of the kidney", + "absent anatomical entity in the independent continuant", "Neoplasm by anatomical site", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormality of multicellular organism mass", - "Abnormal pulmonary valve physiology", - "drooping eyelid", - "Abnormality of the female genitalia", - "abnormality of kidney physiology", - "changed biological_process rate in independent continuant", - "Abnormal uvea morphology", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "abnormal muscle contraction in independent continuant", - "hypertrophic heart right ventricle", - "abnormally decreased number of cell in the independent continuant", - "Abnormal leukocyte morphology", - "abnormal lower urinary tract", - "decreased qualitatively pigmentation in independent continuant", - "Renal hypoplasia/aplasia", - "Abnormality of blood and blood-forming tissues", + "decreased length of manual digit 1", + "Abnormal anus morphology", + "abnormally localised anatomical entity", + "abnormal appendicular skeleton morphology", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Limb undergrowth", + "agenesis of anatomical entity", + "decreased developmental process", + "All", + "Abnormal upper limb bone morphology", + "intestine atresia", + "Proximal placement of thumb", + "abnormal digit morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "increased size of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "Renal cyst", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormality of renal system physiology", + "quality", + "Abnormal renal pelvis morphology", + "decreased length of long bone", + "Abnormality of prenatal development or birth", + "abnormal spermatogenesis", + "phenotype", + "absent digit", + "abnormal male reproductive system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal thenar eminence", + "abnormal nitrogen compound metabolic process", + "abnormal internal genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal cellular process", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "absent anatomical entity in the multicellular organism", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "aplastic anatomical entity", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal anatomical entity morphology in the palmar part of manus", + "absent manual digit", + "abnormal phenotype by ontology source", + "deviation of manual digit", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal cellular physiology", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal cell", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "abnormal anus", + "Abnormal digit morphology", + "phenotype by ontology source", + "Abnormal thumb morphology", "Abnormality of the male genitalia", - "decreased length of digit", - "abnormal enteric nervous system morphology", - "Leukopenia", - "abnormal leukocyte morphology", - "abnormal cornea, curved", - "Abnormality of the anus", - "abnormal immune system", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal incomplete closing of the arch of centrum of vertebra", - "prominent forehead", - "abnormally decreased number of leukocyte", - "Abnormality of the ear", - "abnormal hematopoietic system", - "abnormally decreased number of leukocyte in the blood", - "bone element hypoplasia in independent continuant", - "abnormally decreased number of anatomical entity in the blood", + "deviation of manual digit 1", + "abnormal limb bone morphology", + "abnormal testis morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "absent anatomical entity", + "decreased length of manual digit", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "abnormal cardiovascular system morphology", - "sloped anatomical entity", - "Abnormality of mental function", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Functional abnormality of male internal genitalia", - "Abnormality of the immune system", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "abnormally formed anatomical entity in independent continuant", - "bicornuate anatomical entity", - "Ectopic kidney", - "abnormal respiratory tube morphology", - "abnormal external male genitalia", - "abnormal tracheobronchial tree morphology", - "Hearing abnormality", - "Tracheoesophageal fistula", - "decreased qualitatively biological_process in independent continuant", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal incomplete closing of the anatomical entity", - "Abnormal heart valve morphology", - "Abnormal esophagus morphology", - "shape anatomical entity", - "abnormal gland morphology", - "Morphological abnormality of the gastrointestinal tract", - "abnormal respiratory system", - "abnormal size of palpebral fissure", - "Abnormality of the biliary system", - "abnormal digestive system morphology", - "abnormal primary metabolic process", - "abnormal digestive system", - "abnormality of digestive system physiology", - "decreased biological_process in independent continuant", - "increased length of the anatomical line between pupils", - "abnormal small intestine morphology", - "Abnormality of brain morphology", - "abnormally increased number of anatomical entity", "abnormality of multicellular organism height", - "abnormal limb morphology", - "Fatigue", - "increased anatomical entity length in independent continuant", - "hypertrophic cardiac ventricle", - "Abnormal male reproductive system physiology", - "increased biological_process in independent continuant", - "asymmetrically curved cornea", - "Morphological central nervous system abnormality", - "Recurrent infections", - "Abnormal anterior eye segment morphology", - "Displacement of the urethral meatus", - "abnormal face", - "abnormal asymmetry of anatomical entity", - "abnormal ear morphology", - "abnormal liver morphology", - "abnormal anatomical entity, asymmetrically curved", - "abnormal multicellular organismal reproductive process", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "Abnormality of the upper urinary tract", - "Abnormality of the lower urinary tract", - "Abnormality of the kidney", - "U-shaped anatomical entity", - "abnormal eyeball of camera-type eye", - "Ventricular septal defect", - "abnormal response to stimulus", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Hepatomegaly", - "Abnormal cornea morphology", - "Abnormality of cardiovascular system morphology", - "abnormal developmental process", - "abnormal secondary palate morphology", - "Abnormal forearm bone morphology", - "abnormal voluntary movement behavior", - "Abdominal symptom", - "abnormal alimentary part of gastrointestinal system", - "Abnormal carotid artery morphology", - "Astigmatism", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "abnormal artery morphology", - "Abnormality of enteric nervous system morphology", - "Abnormal forearm morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal spermatogenesis", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "Clinical modifier", - "abnormal neck morphology", - "Hypermelanotic macule", - "Duodenal stenosis", - "Abnormal foot morphology", - "abnormal organelle organization", - "absent kidney in the renal system", - "abnormal systemic artery morphology", - "abnormal hindlimb joint", - "decreased length of neck", - "shape longitudinal arch of pes", - "abnormal developmental process involved in reproduction", - "abnormally fused digit and anatomical entity", - "Abnormal morphology of the radius", - "abnormal erythroid lineage cell morphology", - "Abnormality of the curvature of the cornea", - "abnormal gamete generation", - "abnormal coronary vessel morphology", - "Abnormality of the lymphatic system", - "abnormal anterior uvea morphology", - "Finger aplasia", - "Aplasia/Hypoplasia of facial bones", - "bicornuate uterus", + "forelimb zeugopod bone hypoplasia", + "Abnormality of the hand", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", "abnormal number of anatomical enitites of type anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal uvea morphology", + "increased size of the anatomical entity", + "abnormal limb bone", "absent gamete", - "abnormal cornea, asymmetrically curved", - "Abnormal cellular immune system morphology", - "abnormal nervous system morphology", - "Visceromegaly", - "continuant", - "asymmetrically curved anatomical entity", - "Abnormal eye physiology", - "decreased length of anatomical entity", - "Abnormal ganglion morphology", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Abnormality of the neck", - "Abnormality of exocrine pancreas physiology", - "abnormality of anatomical entity mass", - "Abnormality of corneal shape", + "Abnormal finger morphology", "Aplasia/hypoplasia involving bones of the upper limbs", - "Ovarian neoplasm", - "Dermatological manifestations of systemic disorders", - "Upslanted palpebral fissure", - "Finger syndactyly", - "abnormal ductus arteriosus morphology", - "Abnormal bone ossification", - "decreased spermatogenesis", - "Abnormal tracheal morphology", - "Abnormal involuntary eye movements", - "abnormal kidney morphology", - "abnormal gamete", - "Abnormality of the outer ear", - "abnormality of camera-type eye physiology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "Abnormality of the genital system", - "posterior nasal aperture atresia", - "Hypospadias", - "decreased pigmentation in independent continuant", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "Cardiomyopathy", - "abnormal lens of camera-type eye morphology", - "Hydrocephalus", - "Abnormal morphology of ulna", - "Aplastic anemia", + "Aplasia/Hypoplasia of fingers", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Abnormality of the musculoskeletal system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "abnormal skeletal system morphology", - "Hip dislocation", - "Slanting of the palpebral fissure", - "Abnormality of refraction", - "Abnormal cardiac ventricle morphology", - "Neoplasm of the nervous system", - "phenotype by ontology source", - "abnormal phalanx of manus morphology", - "abnormal visual perception", - "Abnormality of pancreas physiology", + "Short long bone", + "decreased height of the multicellular organism", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "Abnormality of body height", + "abnormal digestive system morphology", + "abnormal musculature of upper limb", + "continuant", + "Azoospermia", + "Finger aplasia", + "abnormal intestine morphology", + "aplastic manual digit 1", + "decreased qualitatively reproductive process", + "anatomical entity hypoplasia in independent continuant", + "abnormally localised testis", + "Abnormal large intestine morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormality of limb bone", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Hydronephrosis", + "decreased length of anatomical entity", + "absent sperm in the semen", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal fetal morphology", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "non-functional anatomical entity", + "aplasia or hypoplasia of radius bone", "abnormal anatomical entity", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "increased size of the anatomical entity", - "abnormal limb bone", - "Aganglionic megacolon", - "Abnormal nervous system morphology", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "Cataract", - "Abnormal renal morphology", - "curved anatomical entity in independent continuant", - "Anemia of inadequate production", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal forearm morphology", + "abnormal gamete", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal size of anatomical entity", + "abnormal external genitalia", + "abnormal renal system morphology", + "Abnormal fetal genitourinary system morphology", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "Abnormality of chromosome stability", + "abnormal kidney", + "Abnormality of the cardiovascular system", "Abnormality of the genitourinary system", - "shape cornea", - "abnormal manual digit morphology in the manus", - "abnormal growth", - "abnormal craniocervical region morphology", - "abnormally fused anatomical entity and pedal digit", - "abnormal lymphatic part of lymphoid system", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "Abnormality of skull size", - "Abnormal vascular morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", + "absent germ cell", + "changed biological_process rate", + "abnormal upper urinary tract", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abnormal renal pelvis morphology", + "abnormal genitourinary system", + "abnormal renal pelvis", + "Fetal pyelectasis", + "abnormal late embryo", + "Abnormality of the urinary system", + "Abnormality of the genital system", + "increased size of the renal pelvis", + "Fetal ultrasound soft marker", + "abnormal number of anatomical enitites of type cell", + "abnormal multicellular organismal reproductive process", "abnormal reproductive process", - "abnormal heart left ventricle morphology", - "abnormal female reproductive system", - "abnormally fused anatomical entity and manual digit", - "abnormal renal system", - "Peripheral primitive neuroectodermal neoplasm", - "abnormal forelimb zeugopod morphology", - "abnormal number of anatomical enitites of type platelet", - "decreased biological_process", - "abnormal neocortex morphology", - "Embryonal neoplasm", - "Pyridoxine-responsive sideroblastic anemia", + "Abnormal internal genitalia", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal reproductive system", "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "Abnormal anterior chamber morphology", - "abnormal innominate bone morphology", - "Growth abnormality", - "abnormal orbital region", - "abnormal sensory perception of light stimulus", - "Abnormality of the orbital region", - "quality", - "Abnormal eyelid morphology", - "increased pigmentation in skin of body", - "abnormal aorta morphology", - "abnormal pulmonary valve morphology", - "abnormal endocrine gland morphology", - "abnormal ocular adnexa morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal development of anatomical entity", - "abnormal renal system morphology", - "All", - "Abnormal bone structure", - "Abnormal cerebral ventricle morphology", - "abnormal trachea morphology", - "decreased qualitatively biological_process", - "absent manual digit", - "ulna hypoplasia", - "abnormality of exocrine gland physiology", - "decreased size of the mandible", - "Intestinal pseudo-obstruction", - "Decreased anatomical entity mass", - "entity", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormally localised kidney", - "abnormality of male reproductive system physiology", - "Cholestasis", - "abnormal digit", - "Abnormality of the skeletal system", + "Growth delay", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "Abnormal external genitalia", + "abnormal developmental process involved in reproduction", + "abnormal anatomical entity morphology in the pectoral complex", + "Functional abnormality of male internal genitalia", + "Abnormality of reproductive system physiology", + "absent anatomical entity in the semen", + "Abnormality of male external genitalia", + "Phenotypic abnormality", + "abnormal reproductive system morphology", + "decreased qualitatively developmental process", + "abnormality of internal male genitalia physiology", + "abnormal male reproductive system", + "abnormal kidney morphology", + "decreased spermatogenesis", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "abnormally localised anatomical entity in independent continuant", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal number of anatomical enitites of type sperm", + "Non-obstructive azoospermia", + "abnormal male reproductive organ morphology", + "Fetal anomaly", + "abnormal external male genitalia", + "Short finger", + "thenar eminence hypoplasia", + "decreased length of digit", "Deviation of finger", - "Autosomal recessive inheritance", - "curvature anatomical entity", - "abnormal skin of body", - "abnormal upper urinary tract", - "Limb undergrowth", - "increased height of the anatomical entity", - "Finger clinodactyly", - "abnormal endocrine system morphology", - "Ptosis", - "abnormal female reproductive system morphology", - "Abnormal neck morphology", - "abnormal peritoneum morphology", - "abnormal shape of forehead", - "abnormality of pancreas physiology", - "abnormal camera-type eye morphology", - "aplasia or hypoplasia of manual digit 1", - "abnormally decreased number of cell", - "Abnormal mandible morphology", - "abnormal head morphology", - "increased size of the abdominal viscera", - "abnormal vertebral column", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", + "abnormal manual digit 1 morphology", + "Short thumb", + "Short digit", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "abnormal primary metabolic process", "Deviation of the hand or of fingers of the hand", - "abnormal late embryo", - "Almond-shaped palpebral fissure", - "Abdominal wall defect", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal axial skeleton morphology", - "abnormal head", - "Pancytopenia", - "Hyperpigmentation of the skin", - "abnormal nerve", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal reproductive system", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal kidney", - "decreased length of anatomical entity in independent continuant", - "hypertrophic multicellular anatomical structure", - "abnormal pigmentation in independent continuant", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "abnormal ocular adnexa", - "Anorexia", - "specifically dependent continuant", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of multiple cell lineages in the bone marrow", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal vestibulo-ocular reflex", - "Abnormal preputium morphology", - "abnormal ureter", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "Abnormality of head or neck", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal cardiovascular system physiology", - "Abnormal cerebrospinal fluid morphology", - "abnormal nervous system", - "abnormal central nervous system morphology", - "agenesis of anatomical entity", - "Genital neoplasm", - "abnormal anus morphology", - "abnormally increased number of brain ventricle in the independent continuant", - "Abnormality of the palpebral fissures", - "decreased developmental process", - "Neuroblastoma", - "changed muscle contraction rate", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal digit morphology", - "abnormal manus", - "flattened anatomical entity", - "bone element hypoplasia in face", - "Abnormal platelet morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal large intestine morphology", - "anatomical entity hyperplasia", - "abnormal cervical vertebra", - "Neoplasm of the pancreas", - "aplastic manual digit 1", + "abnormal size of multicellular organism", + "decreased height of the anatomical entity", + "abnormality of anatomical entity height", "Aplasia/hypoplasia of the extremities", - "drooping anatomical entity", - "Atrial septal defect", - "decreased qualitatively reproductive process", - "Hypoplastic facial bones", - "decreased pigmentation in skin of body", - "Abnormal finger morphology", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "Abnormal aortic valve morphology", - "abnormal autopod region morphology", - "U-shaped kidney", + "decreased biological_process", + "Short stature", + "decreased size of the multicellular organism", + "abnormal growth", + "abnormal cardiovascular system", + "delayed growth" + ], + "has_phenotype_count": 15, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0013499", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group P", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0002984", + "HP:0000581", + "HP:0001510", + "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": [ "Absent thumb", - "clavate digit", - "shape eyelid", - "abnormal arm", - "Abnormality of limb bone", - "Abnormal eye morphology", - "abnormal connective tissue", - "abnormality of ear physiology", - "Abnormal male urethral meatus morphology", - "Intermittent diarrhea", - "Poor appetite", - "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "abnormal cardiac valve morphology", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal shape of the palpebral fissure", - "abnormal spermatogenesis", - "Clubbing of toes", - "abnormal cardiac valve morphology in the heart", - "Splenomegaly", - "Small for gestational age", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the ocular adnexa", - "Abnormality of digestive system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal limb", - "curvature anatomical entity in independent continuant", - "Abnormal ear morphology", - "abnormal craniocervical region", - "abnormal anterior segment of eyeball morphology", - "aplasia or hypoplasia of skeleton", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal manus morphology", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal ulna morphology", - "abnormal limb bone morphology", - "Abnormality of the urethra", - "abnormal brain morphology", - "anatomical entity dysfunction in independent continuant", - "Abnormality of chromosome stability", - "abnormal testis morphology", - "decreased biological_process in multicellular organism", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "abnormal ileum morphology", - "Abdominal pain", - "Abnormal morphology of female internal genitalia", - "abnormal ovary", - "abnormal zone of skin morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal neck", - "abnormal anatomical entity length", - "abnormality of nervous system physiology", - "abnormal reproductive system morphology", - "abnormal exocrine gland morphology", - "abnormal internal female genitalia morphology", - "abnormal internal naris", - "Neurodevelopmental abnormality", - "Gonadal neoplasm", - "increased biological_process in skin of body", - "Abnormal heart valve physiology", - "changed biological_process rate", - "absent germ cell", - "Abnormal ventricular septum morphology", - "Hypertrophic cardiomyopathy", - "abnormal number of anatomical enitites of type cell", - "Horseshoe kidney", - "abnormal myocardium morphology", - "Abnormality of thrombocytes", - "Abnormal immune system morphology", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "Abnormality of the testis size", - "hip dislocation", - "Abnormal size of the palpebral fissures", - "Extrahepatic cholestasis", - "deviation of anatomical entity towards the middle", - "Abnormal testis morphology", - "abnormal incomplete closing of the secondary palate", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "Melanoma", - "Abnormal tracheobronchial morphology", - "Breast carcinoma", - "Elevated hepatic transaminase", - "abnormal biological_process", - "abnormal cardiac ventricle morphology in the heart", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Hypoplasia of the radius", + "Blepharophimosis", "Growth delay", - "Abnormal external genitalia", - "abnormal closing of the anatomical entity", - "Abnormal ear physiology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of reproductive system physiology", - "abnormal hematopoietic cell morphology", - "Abnormal connection of the cardiac segments", - "abnormal behavior process", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "abnormal forehead", - "abnormal vein morphology", - "Decreased body weight", - "aplastic anatomical entity", - "abnormal external ear morphology", - "absent anatomical entity in the multicellular organism", - "Microphthalmia", - "decreased qualitatively developmental process", - "Cognitive impairment", - "abnormal male reproductive system", - "abnormal mouth morphology", - "abnormal anatomical entity morphology", - "Abnormal reflex", - "Autosomal dominant inheritance", - "abnormal anatomical entity, curved", - "absent sperm in the independent continuant", - "abnormally formed anatomical entity", - "absent sperm", - "Abnormality of the urinary system", - "abnormality of reproductive system physiology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormally localised anatomical entity", - "Abnormal heart morphology", - "Acute myeloid leukemia", - "Aplasia/Hypoplasia of the testes", - "abnormal anterior chamber of eyeball morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "abnormal number of anatomical enitites of type sperm", - "abnormal spleen morphology", - "Abnormal penis morphology", - "Intellectual disability", - "Neoplasm", - "Abnormal cardiac atrium morphology", - "abnormal male reproductive organ morphology", - "Toe syndactyly", - "Abnormality of metabolism/homeostasis", - "Abnormal localization of kidney", - "abnormal skeletal joint morphology", - "Abnormal enzyme concentration or activity", - "abnormal facial skeleton morphology", - "abnormal immune system morphology", - "Hematological neoplasm", - "Reduced bone mineral density", - "Myelodysplasia", - "abnormal hypothalamus-pituitary axis", - "Macule", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal female reproductive organ morphology", - "Acute leukemia", - "Decreased anatomical entity mass density", - "Diarrhea", - "abnormal synovial joint morphology", - "increased size of the brain ventricle", - "Abnormal upper limb bone morphology", - "Atypical behavior", - "Neoplasm of the breast", - "Ventriculomegaly", - "increased size of the liver", - "Abnormality of the amniotic fluid", - "Abnormality of the autonomic nervous system", - "Abnormality of prenatal development or birth", - "Oligohydramnios", - "delayed growth", - "abnormal cardiac atrium morphology in the heart", - "abnormal anatomical entity morphology in the manus", - "abnormal platelet morphology", - "Abnormal thorax morphology", - "Abnormal platelet count", - "abnormal internal male genitalia morphology", - "Thrombocytopenia", - "abnormal cell", - "abnormal blood cell morphology", - "Abnormal circulating enzyme concentration or activity", - "abnormal blood cell", - "abnormal myeloid cell morphology", - "abnormally decreased number of platelet", - "Abnormality of globe size", - "Onset", - "abnormal size of eyeball of camera-type eye", - "absent anatomical entity", - "decreased size of the eyeball of camera-type eye", - "abnormal sensory perception", - "Forearm undergrowth", - "Tetralogy of Fallot", - "increased height of the secondary palate", - "Decreased bone element mass density", - "increased size of the anatomical entity in independent continuant", + "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": [ + "UPHENO:0002597", + "HP:0000078", + "UPHENO:0003055", + "HP:0000080", + "UPHENO:0053580", + "UPHENO:0050101", + "HP:0012874", + "HP:0000812", + "UPHENO:0081755", + "HP:0000811", + "HP:0000028", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0078452", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0002595", + "UPHENO:0049367", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0002598", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "UPHENO:0085874", + "HP:0000025", + "UPHENO:0085194", + "UPHENO:0005651", + "UPHENO:0049985", + "UPHENO:0078729", + "UPHENO:0082875", + "UPHENO:0050620", + "HP:0000365", + "UPHENO:0052970", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0052178", + "UPHENO:0002240", + "HP:0000002", + "UPHENO:0080352", + "UPHENO:0081424", + "HP:0011017", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "UPHENO:0049990", + "UPHENO:0049748", + "UPHENO:0050113", + "HP:0003220", + "HP:0000079", + "UPHENO:0086023", + "UPHENO:0041226", + "UPHENO:0080382", + "UPHENO:0041629", + "UPHENO:0082129", + "HP:0012210", + "HP:0000085", + "UPHENO:0002332", + "UPHENO:0087427", + "HP:0100542", + "UPHENO:0049940", + "HP:0010935", + "HP:0012130", + "HP:0001877", + "HP:0001903", + "UPHENO:0087430", + "UPHENO:0065599", + "HP:0000436", + "UPHENO:0084715", + "HP:0000414", + "UPHENO:0088168", + "HP:0000086", + "UPHENO:0001072", + "UPHENO:0053298", + "UPHENO:0084727", + "HP:0009381", + "UPHENO:0046624", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0076803", + "UPHENO:0083646", + "HP:0034261", + "HP:0004322", + "UPHENO:0002833", + "HP:0009118", + "HP:0011821", + "UPHENO:0046411", + "HP:0000277", + "HP:0025031", + "HP:0000347", + "UPHENO:0081786", + "HP:0000252", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "HP:0002060", + "UPHENO:0076718", + "UPHENO:0054567", + "UPHENO:0004523", + "UPHENO:0085873", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "HP:0010461", + "UPHENO:0050625", + "HP:0000929", + "UPHENO:0087802", + "HP:0001000", + "UPHENO:0087547", + "UPHENO:0088170", + "UPHENO:0001001", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0003026", + "UPHENO:0076791", + "UPHENO:0086589", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0002635", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0088162", + "HP:0000953", + "HP:0025033", + "UPHENO:0087907", + "HP:0006501", + "UPHENO:0080377", + "UPHENO:0075195", + "UPHENO:0080662", + "UPHENO:0081435", + "UPHENO:0021791", + "HP:0001574", + "HP:0007400", + "HP:0000001", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0002903", + "HP:0011875", + "UPHENO:0050121", + "HP:0002692", + "UPHENO:0074572", + "UPHENO:0080221", + "HP:0000957", + "UPHENO:0086700", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0021517", + "UPHENO:0087950", + "UPHENO:0002964", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0050845", + "UPHENO:0034770", + "UPHENO:0080099", + "UPHENO:0076739", + "HP:0007364", + "HP:0002977", + "UPHENO:0086595", + "HP:0000492", + "UPHENO:0088116", + "UPHENO:0054970", + "UPHENO:0002378", + "UPHENO:0060026", + "HP:0009380", + "UPHENO:0084763", + "UPHENO:0076702", + "UPHENO:0002708", + "UPHENO:0002764", + "UPHENO:0084448", + "HP:0009824", + "HP:0009115", + "UPHENO:0087501", + "HP:0000707", + "UPHENO:0086172", + "HP:0001034", + "HP:0001873", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "HP:0012443", + "UPHENO:0026181", + "UPHENO:0084987", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "HP:0030791", + "UPHENO:0049587", + "UPHENO:0002844", + "HP:0011297", + "UPHENO:0046707", + "UPHENO:0087472", + "UPHENO:0005016", + "HP:0000119", + "HP:0000152", + "UPHENO:0074584", + "UPHENO:0081790", + "HP:0001871", + "UPHENO:0079876", + "HP:0000118", + "UPHENO:0080165", + "HP:0001172", + "UPHENO:0076724", + "UPHENO:0085195", + "HP:0011961", + "UPHENO:0087006", + "HP:0032039", + "UPHENO:0077426", + "HP:0000240", + "HP:0000077", + "UPHENO:0002905", + "HP:0012733", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0080325", + "UPHENO:0059829", + "BFO:0000020", + "UPHENO:0074589", + "HP:0200007", + "HP:0000153", + "HP:0006265", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0081788", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0026183", + "HP:0040068", + "HP:0031704", + "HP:0040070", + "HP:0005922", + "HP:0001045", + "HP:0009601", + "HP:0001507", + "HP:0045060", + "UPHENO:0076723", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0049700", + "HP:0005927", + "HP:0000125", + "HP:0002817", + "HP:0002984", + "HP:0001876", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", + "HP:0040195", + "UPHENO:0001005", + "HP:0009121", + "UPHENO:0011498", + "HP:0009777", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0085875", + "HP:0011355", + "HP:0009116", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0006910", + "UPHENO:0002907", + "UPHENO:0074575", + "HP:0002011", + "HP:0012145", + "UPHENO:0084766", + "UPHENO:0050008", + "UPHENO:0087518", + "UPHENO:0008523", + "UPHENO:0050108", + "UPHENO:0041075", + "UPHENO:0085144", + "UPHENO:0076703", + "UPHENO:0002371", + "BFO:0000001", + "UPHENO:0088166", + "HP:0040064", + "HP:0001167", + "PATO:0000001", + "UPHENO:0026028", + "HP:0011844", + "UPHENO:0080079", + "HP:0001155", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080200", + "UPHENO:0076805", + "HP:0025461", + "UPHENO:0080126", + "UPHENO:0076799", + "UPHENO:0080187", + "HP:0011793", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0026506", + "HP:0008069", + "UPHENO:0021561", + "UPHENO:0085189", + "HP:0000315", + "UPHENO:0085118", + "UPHENO:0012274", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0046753", + "UPHENO:0046538", + "UPHENO:0068971", + "UPHENO:0081204", + "UPHENO:0076761", + "HP:0009821", + "HP:0025354", + "HP:0000366", + "HP:0005773", + "UPHENO:0005597", + "UPHENO:0081792", + "HP:0006503", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0054957", + "UPHENO:0004459", + "HP:0040072", + "UPHENO:0002910", + "UPHENO:0076727", + "UPHENO:0086045", + "UPHENO:0081451", + "UPHENO:0087349", + "UPHENO:0082444", + "UPHENO:0020041", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "UPHENO:0084928", + "HP:0002973", + "HP:0011121", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", + "UPHENO:0012541", + "HP:0010938", + "HP:0009778", + "HP:0006496", + "UPHENO:0075878", + "UPHENO:0020950", + "UPHENO:0054577", + "HP:0030669", + "UPHENO:0087089", + "UPHENO:0003085", + "HP:0002715", + "HP:0008050", + "UPHENO:0020888", + "UPHENO:0075997", + "UPHENO:0081314", + "HP:0009826", + "UPHENO:0075198", + "UPHENO:0041821", + "HP:0045025", + "HP:0000271", + "UPHENO:0001002", + "UPHENO:0087924", + "HP:0012745", + "HP:0005105", + "UPHENO:0000541", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0086201", + "HP:0001510", + "UPHENO:0000543", + "UPHENO:0049874", + "UPHENO:0086049", + "UPHENO:0002948", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0075902", + "HP:0001881", + "UPHENO:0009382", + "UPHENO:0085068", + "UPHENO:0087339", + "UPHENO:0053588", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0087355", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0084457", + "HP:0000951", + "HP:0000581", + "UPHENO:0002828", + "UPHENO:0081141", + "HP:0011873", + "HP:0020047", + "HP:0011893", + "HP:0032251", + "UPHENO:0085302", + "UPHENO:0085371", + "UPHENO:0085984", + "UPHENO:0086173", + "UPHENO:0069249", + "UPHENO:0080087", + "UPHENO:0076800", + "HP:0031816", + "UPHENO:0080351", + "HP:0009122" + ], + "has_phenotype_closure_label": [ + "Vitiligo", + "Ectopic kidney", + "abnormally localised kidney", + "abnormally localised anatomical entity", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal external male genitalia", + "Abnormality of the genital system", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", "Non-obstructive azoospermia", - "Abnormality of vision", - "Abnormality of the ureter", - "decreased qualitatively visual perception", - "abnormal interatrial septum morphology", - "Abnormality of the face", - "abnormal jaw skeleton morphology", - "changed embryo development rate", - "Proptosis", - "abnormal respiratory system morphology", - "abnormally protruding anatomical entity", - "Pancreatic adenocarcinoma", - "Abnormality of the lower limb", - "aplasia or hypoplasia of uvea", - "abnormal pes morphology", - "flat anatomical entity", - "abnormal bone marrow morphology", - "abnormal cerebral cortex morphology", - "flattened anatomical entity in independent continuant", - "abnormality of cardiovascular system physiology", - "Pes planus", - "decreased qualitatively sensory perception of mechanical stimulus", - "Mendelian inheritance", - "abnormal bone of pectoral complex morphology", - "flat longitudinal arch of pes", - "Abnormal internal genitalia", - "abnormally fused anatomical entity and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormal hemopoietic organ morphology", - "Abnormal consumption behavior", - "Abnormal male internal genitalia morphology", - "abnormally fused digit and digit", - "Arteriovenous malformation", - "Umbilical hernia", - "Clinodactyly of the 5th finger", - "increased length of the epicanthal fold", - "Peritoneal abscess", - "Renal agenesis", - "Cleft palate", - "abnormally fused pedal digit and pedal digit", - "abnormal incomplete closing of the interventricular septum", - "Abnormal toe morphology", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "abnormally localised anatomical entity in independent continuant", + "absent sperm in the independent continuant", + "abnormal male reproductive system", + "abnormality of internal male genitalia physiology", + "decreased qualitatively developmental process", + "absent gamete", + "abnormal gamete", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "changed developmental process rate", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "abnormal testis morphology", + "Abnormal testis morphology", + "Azoospermia", + "Abnormality of the male genitalia", + "abnormal multicellular organismal reproductive process", + "Abnormality of the ear", + "abnormality of ear physiology", + "abnormality of anatomical entity physiology", + "Hearing abnormality", + "Hearing impairment", + "decreased size of the multicellular organism", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", "abnormal size of multicellular organism", - "Glucose intolerance", - "abnormal location of anatomical entity", - "abnormally fused pedal digit and anatomical entity", - "abnormal tetrapod frontal bone morphology", - "abnormality of internal ear physiology", - "abnormal pedal digit morphology", - "abnormal phenotype by ontology source", - "abnormal bone marrow cell morphology", - "Abnormality of eye movement", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "Chromosomal breakage induced by crosslinking agents", + "Pelvic kidney", + "Abnormal cellular physiology", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "Abnormality of the urinary system", + "shape anatomical entity", + "abnormal genitourinary system", + "Abnormality of the kidney", + "3-D shape anatomical entity in independent continuant", + "U-shaped kidney", + "abnormal renal system", + "abnormal upper urinary tract", + "U-shaped anatomical entity", + "3-D shape anatomical entity", + "Abnormality of the genitourinary system", + "shape kidney", + "abnormality of reproductive system physiology", + "absent sperm", + "Horseshoe kidney", + "shape anatomical entity in independent continuant", "concave 3-D shape anatomical entity", - "Bicornuate uterus", - "abnormal behavior", - "abnormal eye movement", - "abnormal cardiac valve morphology in the independent continuant", - "Abnormality iris morphology", - "abnormal cranium morphology", - "abnormal penis morphology", - "abnormal artery morphology in the independent continuant", - "abnormal anatomical entity morphology in the heart", - "abnormal opening of the anatomical entity", - "Neoplasm of the liver", - "abnormal cardiac septum morphology", - "Abnormal cardiac septum morphology", - "Abnormal atrial septum morphology", - "Global developmental delay", - "Right ventricular hypertrophy", - "Conotruncal defect", + "abnormal renal system morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "Abnormality of body height", + "abnormal external nose morphology", + "Abnormality of the nose", + "abnormal nose", + "Abnormal nasal tip morphology", "abnormally increased volume of anatomical entity", - "Chronic fatigue", - "abnormal iris morphology", - "abnormal cardiac ventricle morphology in the independent continuant", - "Abnormality of the mouth", - "abnormal interventricular septum morphology", - "Abnormal morphology of the great vessels", - "Neoplasm of the genitourinary tract", - "Abnormal ventriculoarterial connection", - "Aplasia/Hypoplasia of the mandible", - "abnormal size of heart right ventricle", - "Abnormal jaw morphology", - "Meckel diverticulum", - "increased size of the heart right ventricle", - "Ventricular hypertrophy", - "Overriding aorta", - "decreased muscle contraction", - "abnormal great vessel of heart morphology", - "Abnormal myocardium morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal pelvic girdle bone morphology", - "Abnormal facial shape", - "Craniofacial cleft", - "Decreased fertility", - "Abnormal leukocyte count", - "Facial asymmetry", - "abnormal sensory perception of sound", - "abnormal spatial pattern of anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "Colon cancer", - "abnormal aortic valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal facial skeleton morphology", - "mandible hypoplasia", - "Abnormality of skin morphology", - "Diabetes mellitus", - "Hydroureter", - "Abnormal uterus morphology", - "Abnormal oral morphology", - "Gastrointestinal obstruction", - "clavate anatomical entity", - "facial bone hypoplasia", - "abnormal mouth", - "aplasia or hypoplasia of mandible", + "Bulbous nose", + "abnormal nose morphology", + "Abnormal external nose morphology", + "increased size of the anatomical entity in independent continuant", + "decreased length of manual digit 1", + "Short digit", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "abnormal mandible morphology", + "Abnormality of reproductive system physiology", "Aplasia/Hypoplasia involving bones of the skull", - "shape forehead", - "herniated abdominal wall", - "abnormal manual digit 5 morphology", - "Sloping forehead", - "decreased sensory perception of sound", - "abnormality of alimentary part of gastrointestinal system physiology", - "Functional intestinal obstruction", - "abnormal manual digit 1 morphology", - "Abnormal fallopian tube morphology", - "Syndactyly", - "abnormally decreased functionality of the myocardium", - "Abnormal peripheral nerve morphology by anatomical site", - "abnormal response to external stimulus", - "abnormal fallopian tube morphology", - "abnormal cornea morphology", - "Intrauterine growth retardation", - "Neuroblastic tumor", - "abnormal breast", - "abnormal embryo development", - "decreased embryo development", - "Hernia", - "abnormal abdominal wall", - "Abnormality of the abdominal wall", - "Abnormality of connective tissue", - "Abnormality of the cervical spine", - "Abnormal umbilicus morphology", - "Hernia of the abdominal wall", - "Abnormality of digestive system physiology", - "Abnormal cell morphology", - "Abnormal palate morphology", - "Medulloblastoma", - "Abnormal intestine morphology", - "Malignant neoplasm of the central nervous system", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Neoplasm of the central nervous system", - "abnormal oral cavity morphology", - "increased height of anatomical entity in independent continuant", - "High palate", - "abnormal heart right ventricle morphology", - "abnormality of anatomical entity height", - "abnormal midface morphology", - "Abnormal midface morphology", - "abnormal forehead morphology", - "Abnormal lower limb bone morphology", - "abnormal femur morphology", - "abnormal hindlimb stylopod morphology", - "abnormal physiologic nystagmus", - "Abnormality of femur morphology", - "Abnormal joint morphology", - "Abnormal cerebral morphology", - "Joint dislocation", - "abnormal synovial joint of pelvic girdle morphology", - "abnormal hip joint morphology", - "Micrognathia", - "anatomical entity dislocation", - "abnormal pelvic girdle bone/zone morphology", - "absent anatomical entity in the forelimb", - "Increased head circumference", - "Abnormal hip bone morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal hip joint morphology", - "skeletal joint dislocation", - "Lower extremity joint dislocation", + "abnormal digestive system", + "aplasia or hypoplasia of mandible", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "abnormal long bone morphology", + "abnormal nervous system", + "Neoplasm", + "Morphological central nervous system abnormality", + "abnormal facial skeleton morphology", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "aplasia or hypoplasia of telencephalon", + "Decreased head circumference", + "delayed growth", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "abnormal biological_process in independent continuant", + "Abnormality of the nervous system", + "Squamous cell carcinoma", + "abnormal integument", + "abnormal biological_process", + "Hyperpigmentation of the skin", + "abnormal digestive system morphology", + "Irregular hyperpigmentation", "abnormal skeletal system", - "Abnormal calvaria morphology", - "Dolichocephaly", - "increased size of the head", - "abnormal external genitalia", - "abnormal size of head", - "abnormal vault of skull", - "Abnormality of the ovary", - "Abnormal aortic morphology", - "Abscess", - "abnormal skin of face morphology", - "abnormal neural tube closure", - "abnormal skin of head morphology", - "abnormal long bone morphology", - "Ovarian carcinoma", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Chromosomal breakage induced by crosslinking agents", - "abnormal roof of mouth morphology", - "prominent anatomical entity", - "abnormal metabolic process", - "Lymphadenopathy", - "increased size of the lymph node", - "abnormal DNA metabolic process", - "Chromosome breakage", - "abnormal cellular component organization", - "abnormal nitrogen compound metabolic process", - "abnormal chromatin organization", - "Abnormal soft palate morphology", - "shape palpebral fissure", - "abnormal palatine uvula morphology", - "abnormal soft palate morphology", - "Aplasia/Hypoplasia of the uvula", - "shape uterus", - "3-D shape anatomical entity", - "abnormal uterus morphology", - "Functional abnormality of the inner ear", - "abnormal uterus", - "Abnormality of the uterus", - "Abnormal glucose homeostasis", - "Abnormal homeostasis", - "abnormal glucose homeostasis", - "abnormal cellular process", - "abnormal carbohydrate homeostasis", - "decreased length of palpebral fissure", - "increased pigmentation", + "decreased width of the anatomical entity in independent continuant", + "Abnormality of skin pigmentation", + "abnormal ocular adnexa morphology", + "Abnormal axial skeleton morphology", + "Abnormal facial skeleton morphology", + "decreased size of the anatomical entity in the pectoral complex", "Abnormal skeletal morphology", + "Cafe-au-lait spot", + "Macule", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal mandible morphology", + "absent anatomical entity in the limb", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", "Short palpebral fissure", - "Gastrointestinal dysmotility", - "absent kidney", - "abnormal incomplete closing of the interatrial septum", - "Decreased multicellular organism mass", - "abnormal consumption behavior", - "Aplasia/Hypoplasia of the ulna", - "Abnormal nervous system physiology", - "Hypoplasia of the ulna", - "Abnormality of the gastrointestinal tract", - "Neuroepithelial neoplasm", - "Primitive neuroectodermal tumor", - "changed developmental process rate", - "abnormal musculoskeletal movement", - "Nervous tissue neoplasm", - "abnormal muscle contraction", - "Leukemia", - "decreased gastro-intestinal system smooth muscle contraction", + "Abnormal size of the palpebral fissures", + "abnormal digit", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormally localised testis", + "anatomical entity hypoplasia in face", + "Abnormality of digestive system morphology", + "abnormal limb", + "Abnormal appendicular skeleton morphology", + "abnormal head", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased size of the anatomical entity", + "Abnormal nervous system morphology", + "abnormal limb bone", + "Abnormality of multiple cell lineages in the bone marrow", + "increased qualitatively biological_process in independent continuant", + "Abnormal finger morphology", + "abnormal craniocervical region morphology", + "continuant", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "aplastic anatomical entity", + "increased biological_process in independent continuant", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of fingers", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "agenesis of anatomical entity", + "increased qualitatively biological_process", + "All", + "Abnormal upper limb bone morphology", + "absent anatomical entity", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "abnormal forebrain morphology", + "absent germ cell", + "abnormally increased volume of nose", + "increased biological_process in skin of body", + "changed biological_process rate", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of skull size", "abnormal face morphology", - "abnormal intestine morphology", - "abnormal gastro-intestinal system smooth muscle contraction", - "Neoplasm of the colon", - "Anemia", - "abnormal large intestine morphology", + "Limb undergrowth", + "abnormal platelet", + "abnormal reproductive system", + "Abnormality of head or neck", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal spermatogenesis", + "Localized skin lesion", + "Abnormal hand morphology", + "absent digit", + "quality", + "abnormal limb bone morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "increased pigmentation", + "Abnormal oral morphology", + "increased pigmentation in independent continuant", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal digit morphology", + "Abnormal forebrain morphology", "Abnormality of the skin", - "Abnormality of the breast", - "Abnormality of skin pigmentation", - "abnormal chest morphology", - "abnormal chest", - "malformed anatomical entity", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal breast morphology", - "abnormal hindlimb morphology", - "abnormal breast morphology", - "Abnormality of body height", - "Abnormality of the eye", - "decreased size of the ulna", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Aplasia/Hypoplasia of facial bones", + "Abnormality of the hand", + "abnormal sensory perception", + "abnormal manus", + "Finger aplasia", + "abnormal skull morphology", + "Abnormal platelet morphology", + "mandible hypoplasia", + "phenotype by ontology source", + "aplastic manual digit 1", + "Aplasia/Hypoplasia of the thumb", + "abnormal head morphology", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "Abnormal digit morphology", + "abnormal hematopoietic system morphology", + "abnormal arm", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "decreased biological_process", + "Short stature", + "Hypoplastic facial bones", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "abnormal anatomical entity morphology in the brain", + "Abnormality of limb bone", + "decreased qualitatively sensory perception of sound", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormal nasal morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal erythroid lineage cell morphology", + "bone element hypoplasia in independent continuant", + "absent anatomical entity in the multicellular organism", + "Abnormality of the orbital region", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "aplasia or hypoplasia of manual digit", + "abnormal appendicular skeleton morphology", + "decreased length of palpebral fissure", + "abnormal blood cell", + "abnormal pigmentation", + "abnormal ear", + "Absent thumb", + "abnormal autopod region morphology", + "decreased height of the multicellular organism", + "Short long bone", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "Abnormality of the head", + "Neoplasm of the skin", + "decreased length of long bone", + "abnormal radius bone morphology", + "abnormal face", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "Aplasia/Hypoplasia of the radius", + "anatomical entity hypoplasia in independent continuant", + "Abnormal localization of kidney", + "Growth abnormality", + "abnormal orbital region", + "phenotype", + "Abnormal cell morphology", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "radius bone hypoplasia", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "abnormal nose tip morphology", + "Aplasia/hypoplasia involving forearm bones", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal palpebral fissure", + "abnormally decreased number of cell", + "absent sperm in the semen", + "decreased length of anatomical entity", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormal ocular adnexa morphology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "abnormal limb long bone morphology", + "increased pigmentation in skin of body", + "decreased length of forelimb zeugopod bone", + "Microcephaly", + "changed biological_process rate in independent continuant", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal bone marrow cell morphology", + "Blepharophimosis", + "Abnormal erythrocyte morphology", + "aplasia or hypoplasia of radius bone", + "decreased size of the mandible", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal internal genitalia", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased spermatogenesis", + "abnormal kidney morphology", + "decreased width of the palpebral fissure", + "Abnormality of the palpebral fissures", + "Abnormal internal genitalia", + "abnormal eyelid morphology", + "Abnormal eyelid morphology", + "abnormal hematopoietic system", + "Abnormality of the upper urinary tract", + "decreased width of the anatomical entity", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal ocular adnexa", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal size of palpebral fissure", + "Narrow palpebral fissure", "decreased height of the anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", - "decreased height of the multicellular organism", - "Abnormality of the vertebral column", - "Short stature", - "Abnormality of bone marrow cell morphology", - "abnormal erythrocyte morphology", - "Nystagmus", - "Cryptorchidism", - "abnormal outflow part of left ventricle morphology", - "abnormal internal ear", - "abnormal vestibulo-ocular reflex", - "Abnormal gastrointestinal motility", - "Abnormal erythroid lineage cell morphology", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "Cranial nerve paralysis", - "abnormal peripheral nervous system morphology", - "Abnormality of the peripheral nervous system", - "paralysed cranial nerve", - "paralysed anatomical entity", - "Sideroblastic anemia", - "abnormal location of eyeball of camera-type eye", - "deviation of manual digit 5", - "deviation of digit towards the middle", - "deviation of manual digit", - "Abnormality of the hypothalamus-pituitary axis", - "deviation of anatomical entity", - "Visual impairment", - "deviation of manual digit towards the middle", - "deviation of manual digit 5 towards the middle", - "Abnormality of bone mineral density", - "decreased length of manual digit", - "Short finger", - "Pain", - "Short thumb", - "Prostate neoplasm", - "Short digit", - "decreased length of manual digit 1", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "decreased multicellular organism mass", - "decreased qualitatively pigmentation", - "Hypopigmentation of the skin", - "Abnormality of the urinary system physiology", - "Hypopigmented skin patches", - "abnormal phalanx of pes morphology", - "abnormal abdomen morphology", - "abnormal phalanx morphology", - "lymph node hyperplasia", - "Abnormal toe phalanx morphology", - "abnormal ocular surface region morphology", - "abnormal ganglion morphology", - "Abnormal autonomic nervous system morphology", - "abnormal forelimb morphology", - "abnormal autonomic nervous system", - "Abnormality of enteric ganglion morphology", + "Abnormality of the face", + "decreased sensory perception of sound", "abnormal skin of body morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormal lymph node morphology", - "Abnormal hand morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Clinical course", - "abnormal small intestine", - "Azoospermia", - "Abnormal small intestine morphology", - "abnormal eyelid morphology", - "Back pain", - "Abnormal peritoneum morphology", - "Reduced impulse control", - "Recurrent maladaptive behavior", - "Abnormal shape of the frontal region", - "abnormal heart layer morphology", - "Abnormality of lower limb joint", - "Abnormal frontal bone morphology", - "increased qualitatively biological_process", - "Abnormal cerebral cortex morphology", - "abnormal shape of frontal cortex", - "abnormal cerebral hemisphere morphology", - "Hearing impairment", - "abnormal neurocranium morphology", - "abnormal frontal cortex morphology", - "abnormal homeostatic process", - "abnormal lymph node morphology", - "abnormal size of lymph node", - "Abnormal duodenum morphology", - "Pelvic kidney", - "Abnormal thumb morphology", - "aplasia or hypoplasia of ulna", - "Unilateral renal agenesis", - "Abnormal vestibular function", - "absent kidney in the independent continuant", - "Congenital malformation of the great arteries", - "decreased pigmentation in multicellular organism", - "absent anatomical entity in the renal system", - "abnormally decreased functionality of the gonad", - "Puberty and gonadal disorders", - "Male reproductive system neoplasm", - "Orofacial cleft", - "abnormal enteric ganglion morphology", - "Unusual infection", - "Abnormality of immune system physiology", - "abnormal esophagus morphology", + "aplasia or hypoplasia of skull", + "Growth delay", + "abnormal cell", + "Abnormal leukocyte count", + "abnormal hematopoietic cell morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormality of the skeletal system", + "Abnormality of the ocular adnexa", + "Micrognathia", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal immune system", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal developmental process involved in reproduction", + "Thrombocytopenia", + "Abnormality of the immune system", + "Pancytopenia", + "abnormal growth", + "abnormal leukocyte morphology", + "Abnormality of blood and blood-forming tissues", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Anemia", + "abnormal bone marrow cell", + "abnormal nervous system morphology", + "abnormal cell morphology", + "abnormal external genitalia", "abnormal size of anatomical entity", - "abnormality of renal system physiology", - "Abnormal lens morphology", - "Abnormal respiratory system morphology", - "Multiple cafe-au-lait spots", - "increased reflex", - "increased qualitatively response to stimulus", - "Hyperreflexia", - "Decreased fertility in males" + "Abnormality of thrombocytes", + "Aplasia/Hypoplasia of the mandible", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormality of the digestive system", + "abnormal head bone morphology", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "abnormal mouth morphology", + "abnormal size of skull", + "Abnormality of the mouth", + "bone element hypoplasia in face" ], - "has_phenotype_count": 156, + "has_phenotype_count": 20, "highlight": null, "score": null }, { - "id": "MONDO:0013248", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi renotubular syndrome 1", "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": null, + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], "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" + "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:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", - "HP:0002984", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", "HP:0004322", - "HP:0001245", + "HP:0003126", + "HP:0000083", + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", "HP:0003774", - "HP:0025023" + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049" ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", "Short stature", - "Small thenar eminence", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", "Stage 5 chronic kidney disease", - "Rectal atresia" + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis" ], "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", + "UPHENO:0078555", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068079", + "UPHENO:0084542", + "UPHENO:0051619", + "UPHENO:0051714", + "UPHENO:0051608", + "UPHENO:0051688", + "UPHENO:0051659", + "HP:0001995", + "HP:0004918", + "HP:0025142", + "HP:0012531", + "HP:0011279", + "HP:0002659", + "HP:0003081", + "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0078640", + "UPHENO:0050484", "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", - "HP:0001510", - "UPHENO:0086201", - "HP:0000811", - "UPHENO:0074228", - "UPHENO:0001005", - "UPHENO:0002597", - "HP:0011793", - "UPHENO:0076776", - "HP:0006503", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "UPHENO:0002839", - "BFO:0000002", - "UPHENO:0053298", - "HP:0004322", - "UPHENO:0002833", - "UPHENO:0080099", - "HP:0030680", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0046411", - "UPHENO:0080351", - "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "HP:0005773", - "HP:0001155", - "UPHENO:0077426", - "UPHENO:0084771", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0021561", - "HP:0009821", + "UPHENO:0084537", + "HP:0010996", + "UPHENO:0049723", + "HP:0004359", + "HP:0010966", + "HP:0012103", "HP:0025354", - "UPHENO:0080126", - "UPHENO:0076810", - "HP:0011844", - "UPHENO:0080079", - "HP:0009601", - "HP:0001507", + "HP:0003119", + "UPHENO:0006889", + "HP:0011843", + "HP:0003234", + "UPHENO:0082544", + "HP:0004354", + "UPHENO:0034319", + "UPHENO:0084472", + "UPHENO:0068442", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "HP:0004369", + "HP:0011038", + "UPHENO:0051280", + "UPHENO:0051898", + "HP:0011017", + "UPHENO:0034199", + "UPHENO:0051704", + "HP:0011280", + "HP:0002653", "UPHENO:0076703", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", - "HP:0009824", - "UPHENO:0084448", - "UPHENO:0086700", - "UPHENO:0081204", - "HP:0001245", - "HP:0004378", - "HP:0000001", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0001939", - "UPHENO:0001003", - "UPHENO:0012274", - "UPHENO:0086644", - "HP:0011314", - "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", - "UPHENO:0046538", - "HP:0001167", - "HP:0040064", - "UPHENO:0076779", - "UPHENO:0050116", - "UPHENO:0049367", + "UPHENO:0049618", + "HP:0011042", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0051887", + "UPHENO:0034438", + "HP:0001943", + "UPHENO:0051958", + "UPHENO:0068352", + "UPHENO:0081777", + "UPHENO:0066927", + "UPHENO:0081544", + "HP:0006530", + "HP:0004352", + "UPHENO:0079536", + "UPHENO:0034217", + "HP:0010929", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0069254", + "HP:0001871", + "UPHENO:0051186", + "HP:0004322", + "HP:0004323", + "HP:0003149", + "UPHENO:0049628", + "UPHENO:0004459", + "UPHENO:0002411", + "UPHENO:0075666", + "UPHENO:0050080", "UPHENO:0068971", - "UPHENO:0078452", - "UPHENO:0001002", - "UPHENO:0080362", - "HP:0011297", - "HP:0001626", - "HP:0003220", - "UPHENO:0011498", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "UPHENO:0051960", + "UPHENO:0046356", + "UPHENO:0076289", + "UPHENO:0049709", + "UPHENO:0000541", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0034253", + "HP:0001324", + "UPHENO:0082543", + "UPHENO:0068134", + "UPHENO:0067999", + "HP:0000124", + "HP:0010935", + "UPHENO:0078646", + "UPHENO:0034248", + "UPHENO:0068094", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0046283", + "HP:0011277", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0003111", + "HP:0000079", + "HP:0004379", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0079822", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "HP:0012211", + "UPHENO:0051847", + "HP:0001942", + "HP:0001507", + "UPHENO:0076294", + "UPHENO:0002964", + "UPHENO:0084653", + "UPHENO:0002320", + "HP:0430071", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0100529", + "UPHENO:0001005", + "UPHENO:0068036", "UPHENO:0050113", - "HP:0034058", - "UPHENO:0086128", - "UPHENO:0049587", - "HP:0006501", - "UPHENO:0002708", - "HP:0000032", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0001197", - "UPHENO:0050021", - "HP:0045060", - "HP:0034915", - "UPHENO:0002830", - "UPHENO:0086682", - "HP:0025033", - "UPHENO:0050845", - "BFO:0000020", - "UPHENO:0081466", - "HP:0040012", - "HP:0000028", - "UPHENO:0049748", - "UPHENO:0076723", - "UPHENO:0002647", - "UPHENO:0049873", - "HP:0000083", - "UPHENO:0026506", - "HP:0000027", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", + "UPHENO:0051686", + "UPHENO:0001002", + "UPHENO:0046284", + "UPHENO:0068110", + "HP:0001947", + "UPHENO:0051645", + "UPHENO:0020748", + "UPHENO:0002442", + "UPHENO:0001003", + "UPHENO:0054261", "UPHENO:0002536", "UPHENO:0076692", "UPHENO:0080352", - "UPHENO:0026181", - "HP:0003241", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0076727", - "HP:0006265", - "HP:0011425", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0002595", - "UPHENO:0003055", - "HP:0011805", - "HP:0009777", - "UPHENO:0026183", - "HP:0040068", - "HP:0040070", - "UPHENO:0009382", - "UPHENO:0049990", - "UPHENO:0076724", - "HP:0009381", - "UPHENO:0088186", - "HP:0009815", + "HP:0000093", + "HP:0000001", + "HP:0004348", + "UPHENO:0082834", + "HP:0003774", + "UPHENO:0080659", + "UPHENO:0051668", + "UPHENO:0052116", "HP:0000924", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0001172", - "HP:0000118", - "HP:0011842", + "HP:0003330", + "HP:0010930", + "UPHENO:0046348", + "HP:0020129", + "HP:0000077", + "UPHENO:0068089", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0001001", + "UPHENO:0081440", + "UPHENO:0086908", + "HP:0012599", "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0084763", - "UPHENO:0086633", + "HP:0011842", + "HP:0002150", + "HP:0033127", + "BFO:0000001", + "UPHENO:0082539", + "UPHENO:0082538", + "UPHENO:0050433", + "UPHENO:0051763", + "HP:0003011", + "HP:0012337", + "UPHENO:0049904", + "UPHENO:0081550", + "HP:0012591", + "HP:0001939", + "UPHENO:0068064", + "HP:0002748", + "HP:0003126", "UPHENO:0002803", "UPHENO:0002832", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0040072", - "UPHENO:0081451", - "UPHENO:0087349", + "UPHENO:0081547", + "UPHENO:0068511", + "BFO:0000002", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0012072", + "HP:0003110", + "UPHENO:0034391", + "UPHENO:0010763", + "HP:0032943", + "UPHENO:0051191", + "HP:0011036", + "HP:0010967", + "HP:0034359", + "UPHENO:0054299", + "UPHENO:0051635", + "HP:0002157", "HP:0000002", - "UPHENO:0020041", - "UPHENO:0086198", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076718", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0012541", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0049940", - "HP:0010935", - "HP:0010944", - "UPHENO:0001072", - "UPHENO:0005651", - "UPHENO:0084132", - "UPHENO:0084124", - "HP:0008669", - "HP:0012210", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "HP:0010945", - "UPHENO:0080377", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0002786", - "UPHENO:0075893", - "HP:0000079", - "UPHENO:0001478", - "UPHENO:0002598", - "UPHENO:0081792", - "HP:0000126", - "UPHENO:0005597", - "UPHENO:0085194", - "HP:0004097", - "HP:0000025", - "UPHENO:0020950", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "HP:0100871", - "UPHENO:0087427", + "HP:0033354", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0068058", + "UPHENO:0080658", "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "HP:0012243", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0049970", - "UPHENO:0049701", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "UPHENO:0052178", - "UPHENO:0087802", - "UPHENO:0085873", - "UPHENO:0081755", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0050101", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", + "UPHENO:0078554", + "UPHENO:0082943", + "HP:0003646", + "HP:0031980", + "UPHENO:0046362", + "HP:0002900", + "UPHENO:0080556", + "HP:0003155", + "UPHENO:0068495", + "HP:0040156", + "UPHENO:0052008", + "UPHENO:0076299", + "UPHENO:0051670", + "UPHENO:0046286", + "BFO:0000020", + "HP:0011032", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0019970", + "HP:0003355", + "UPHENO:0051930", + "HP:0012252", + "UPHENO:0066943", + "UPHENO:0051709", + "HP:0001992", + "HP:0002086", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0078592", + "UPHENO:0077821", + "UPHENO:0068169", + "HP:0002909", "UPHENO:0002642", "UPHENO:0081423", - "HP:0034057", + "UPHENO:0084541", "UPHENO:0081424", - "UPHENO:0002880", "UPHENO:0075159", - "UPHENO:0000541" + "HP:0012598", + "UPHENO:0087433", + "UPHENO:0076286", + "UPHENO:0080351", + "UPHENO:0020584", + "UPHENO:0050619", + "HP:0003109", + "HP:0001510", + "UPHENO:0004536", + "UPHENO:0049873", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0012541", + "UPHENO:0068247", + "UPHENO:0068565", + "UPHENO:0051801", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "HP:0000117", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0004325", + "HP:0012622", + "UPHENO:0046344", + "UPHENO:0051678", + "HP:0003076", + "UPHENO:0000543", + "UPHENO:0068102", + "HP:0002206", + "PATO:0000001", + "HP:0002088", + "UPHENO:0051766", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0079824", + "HP:0011014", + "UPHENO:0080555", + "HP:0011015", + "HP:0004349", + "HP:0012603", + "UPHENO:0051866", + "UPHENO:0050116", + "HP:0012606", + "HP:0001941", + "HP:0003648", + "UPHENO:0051804", + "HP:0004912", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0051736", + "HP:0012379", + "UPHENO:0051588", + "UPHENO:0049748", + "UPHENO:0082875", + "UPHENO:0034276", + "UPHENO:0068251", + "UPHENO:0024906", + "UPHENO:0034149", + "UPHENO:0051712", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0066781", + "HP:0034684", + "HP:0010932", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0078616" ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", + "Proximal renal tubular acidosis", + "Generalized aminoaciduria", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "increased level of purines in independent continuant", + "increased level of uric acid in urine", + "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "abnormal independent continuant hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Hyperchloremic metabolic acidosis", + "Pain", + "Constitutional symptom", + "abnormality of musculoskeletal system physiology", + "abnormal urine potassium atom level", + "Abnormal urine potassium concentration", + "Abnormal circulating fatty-acid concentration", + "abnormal amino acid derivative level", + "abnormal monocarboxylic acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "abnormal carnitine metabolic process", + "Impaired renal tubular reabsorption of phosphate", + "Hyperuricosuria", + "Abnormal circulating enzyme concentration or activity", + "Abnormal renal tubular resorption", + "Rickets", + "Abnormal blood monovalent inorganic cation concentration", + "increased level of organic acid in urine", + "Abnormal blood potassium concentration", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium atom level", + "decreased level of potassium atom in blood", + "abnormal phenotype by ontology source", + "abnormal urine phosphate level", + "Abnormal glucose homeostasis", + "increased level of chemical entity in blood", + "Hyperphosphaturia", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "increased level of phosphate in urine", + "abnormal potassium atom level", + "abnormal skeletal system", + "abnormal renal system process", + "Renal tubular dysfunction", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "decreased level of uric acid in blood", "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", + "Weight loss", + "abnormal kidney", + "increased level of calcium atom in urine", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "Abnormal blood phosphate concentration", + "Bicarbonate-wasting renal tubular acidosis", + "Abnormality of blood and blood-forming tissues", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Decreased anatomical entity mass", + "Bicarbonaturia", + "increased bodily fluid acid level", + "decreased level of phosphate in blood", + "Elevated urinary carboxylic acid", + "Abnormal circulating metabolite concentration", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal role blood level", + "Renal insufficiency", + "Dehydration", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "decreased level of amino-acid betaine", + "Abnormal urine metabolite level", + "abnormal carbohydrate homeostasis", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "Abnormal blood glucose concentration", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "abnormal homeostatic process", + "decreased muscle organ strength", + "decreased role blood level", + "abnormal blood phosphate level", + "increased level of protein polypeptide chain in urine", + "abnormal renal absorption", + "Abnormality of bone mineral density", + "Muscle weakness", + "decreased anatomical entity strength", + "Bone pain", + "Abnormality of the upper urinary tract", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", + "abnormal independent continuant monoatomic ion level", + "abnormal multicellular organism chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "abnormal monoatomic cation homeostasis", + "increased level of potassium atom in urine", "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", - "abnormal cellular component organization", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "decreased level of potassium atom in independent continuant", + "Metabolic acidosis", + "increased level of monosaccharide in urine", + "abnormal anatomical entity", + "Abnormality of urine homeostasis", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "abnormal blood potassium(1+) level", + "Acidosis", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "Abnormal urine protein level", + "Abnormal circulating purine concentration", + "abnormal independent continuant glucose level", + "Reduced bone mineral density", "abnormality of renal system physiology", "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", - "decreased length of manual digit", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", - "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", + "abnormal amino-acid betaine level", "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", + "abnormal independent continuant amino acid level", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "abnormal urine chemical entity level", + "All", + "increased level of phosphate in independent continuant", + "abnormal lung morphology", + "abnormal bone element mass density", + "increased level of calcium atom in independent continuant", + "decreased role independent continuant level", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "increased level of monosaccharide in independent continuant", + "abnormal cell", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "decreased height of the multicellular organism", + "abnormality of muscle organ physiology", + "Growth delay", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "increased level of protein", + "Hypercalciuria", + "abnormal renal system", + "abnormal small molecule metabolic process", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "Low-molecular-weight proteinuria", + "Abnormality of acid-base homeostasis", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "Abnormal circulating nitrogen compound concentration", + "Abnormal blood cation concentration", "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", + "abnormal skeletal system morphology", + "Proteinuria", + "Abnormal cellular physiology", + "increased level of chemical entity", + "abnormal purine nucleobase metabolic process", + "increased level of rac-lactic acid in urine", + "increased independent continuant acid level", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "abnormal independent continuant carbohydrate level", + "Decreased bone element mass density", + "decreased size of the multicellular organism", + "abnormal acid bodily fluid level", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "entity", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", - "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "Short finger", - "thenar eminence hypoplasia", - "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", + "increased level of rac-lactic acid in independent continuant", + "increased level of glucose in independent continuant", + "increased level of organic molecular entity in independent continuant", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "increased level of glucose in urine", + "Abnormal bone ossification", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "abnormal respiratory system morphology", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal protein level", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "increased level of organic acid in independent continuant", + "Aminoaciduria", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "increased level of carboxylic acid in independent continuant", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "increased independent continuant base level", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", + "increased level of nitrogen molecular entity in blood", + "Abnormality of the musculature", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Decreased body weight", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", "abnormal size of multicellular organism", + "abnormal metabolite independent continuant level", "decreased height of the anatomical entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "Abnormality of body height", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", + "abnormally decreased functionality of the anatomical entity", "Short stature", - "decreased size of the multicellular organism", + "decreased anatomical entity mass", + "Growth abnormality", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", + "abnormal anatomical entity morphology in the independent continuant", + "Osteomalacia", + "delayed biological_process", "abnormal growth", - "abnormal cardiovascular system", - "delayed growth" + "abnormal blood uric acid level", + "delayed growth", + "abnormal independent continuant protein polypeptide chain level", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "non-functional kidney", + "Renal phosphate wasting", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "abnormality of anatomical entity mass", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "abnormal calcium atom level", + "abnormal regulation of body fluid levels", + "Abnormal lung morphology", + "abnormal blood nitrogen molecular entity level", + "Abnormal respiratory system morphology", + "lung fibrosis", + "continuant", + "Abnormal circulating nucleobase concentration", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "abnormal urine sodium atom level", + "abnormal independent continuant sodium atom level", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "Abnormal urine sodium concentration", + "non-functional anatomical entity", + "abnormal sodium atom level", + "Hypophosphatemic rickets", + "decreased level of purines", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "Abnormality of fluid regulation", + "abnormal nucleobase metabolic process", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal primary metabolic process", + "Hypouricemia", + "abnormal metabolic process", + "abnormal blood monoatomic ion level", + "decreased level of uric acid in independent continuant", + "Azotemia", + "Hypokalemia", + "Decreased circulating purine concentration" ], - "has_phenotype_count": 15, + "has_phenotype_count": 39, "highlight": null, "score": null }, { - "id": "MONDO:0013499", + "id": "MONDO:0014985", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", + "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 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 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": [ - "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" + "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:0009777", - "HP:0000957", - "HP:0000252", - "HP:0002860", - "HP:0002984", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", + "HP:0001875", + "HP:0000252", + "HP:0001873", + "HP:0005528", + "HP:0006254", "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045" + "HP:0001903", + "HP:0004322" ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", + "Neutropenia", "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", + "Thrombocytopenia", + "Bone marrow hypocellularity", + "Elevated circulating alpha-fetoprotein concentration", "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo" + "Anemia", + "Short stature" ], "has_phenotype_closure": [ - "UPHENO:0002597", - "HP:0000078", - "UPHENO:0003055", - "HP:0000080", - "UPHENO:0053580", - "UPHENO:0050101", - "HP:0012874", - "HP:0000812", - "UPHENO:0081755", - "HP:0000811", - "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0002595", - "UPHENO:0049367", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "UPHENO:0085874", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0005651", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0082875", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0052178", - "UPHENO:0002240", + "UPHENO:0012541", + "UPHENO:0000543", + "HP:0004322", "HP:0000002", - "UPHENO:0080352", - "UPHENO:0081424", + "HP:0001507", + "UPHENO:0068971", + "UPHENO:0081423", + "UPHENO:0088162", + "HP:0001877", + "HP:0001903", + "UPHENO:0088170", "HP:0011017", - "HP:0003221", + "UPHENO:0078606", + "UPHENO:0049587", "UPHENO:0050116", - "HP:0001939", "UPHENO:0050021", + "UPHENO:0050121", "UPHENO:0049990", + "HP:0001510", + "UPHENO:0049873", "UPHENO:0049748", - "UPHENO:0050113", + "HP:0040012", "HP:0003220", - "HP:0000079", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0080382", - "UPHENO:0041629", - "UPHENO:0082129", - "HP:0012210", - "HP:0000085", - "UPHENO:0002332", - "UPHENO:0087427", - "HP:0100542", - "UPHENO:0049940", - "HP:0010935", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "UPHENO:0087430", - "UPHENO:0065599", - "HP:0000436", - "UPHENO:0084715", - "HP:0000414", - "UPHENO:0088168", - "HP:0000086", - "UPHENO:0001072", - "UPHENO:0053298", - "UPHENO:0084727", - "HP:0009381", - "UPHENO:0046624", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076803", - "UPHENO:0083646", - "HP:0034261", - "HP:0004322", - "UPHENO:0002833", - "HP:0009118", - "HP:0011821", - "UPHENO:0046411", - "HP:0000277", - "HP:0025031", - "HP:0000347", - "UPHENO:0081786", - "HP:0000252", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0054567", - "UPHENO:0004523", - "UPHENO:0085873", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0010461", - "UPHENO:0050625", - "HP:0000929", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0087547", - "UPHENO:0088170", - "UPHENO:0001001", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0003026", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0002635", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0088162", - "HP:0000953", - "HP:0025033", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0080377", - "UPHENO:0075195", - "UPHENO:0080662", - "UPHENO:0081435", - "UPHENO:0021791", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "HP:0000032", + "UPHENO:0077826", + "UPHENO:0081547", + "HP:0004364", + "UPHENO:0051801", + "UPHENO:0048751", + "UPHENO:0077821", + "UPHENO:0051680", + "HP:0010876", + "UPHENO:0046284", + "UPHENO:0088318", + "UPHENO:0084928", + "UPHENO:0085195", + "BFO:0000002", + "UPHENO:0085076", + "UPHENO:0077813", + "UPHENO:0085984", + "UPHENO:0085371", + "HP:0032251", + "HP:0020047", + "HP:0011893", + "UPHENO:0049700", + "UPHENO:0085330", "UPHENO:0022529", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0050121", - "HP:0002692", - "UPHENO:0074572", - "UPHENO:0080221", - "HP:0000957", - "UPHENO:0086700", + "UPHENO:0051936", + "UPHENO:0075220", + "UPHENO:0049874", + "UPHENO:0086049", + "BFO:0000001", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085068", + "HP:0001939", + "UPHENO:0088335", + "UPHENO:0050113", + "HP:0000929", + "HP:0005528", + "HP:0032309", + "UPHENO:0080351", "UPHENO:0020584", - "HP:0002813", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0050845", - "UPHENO:0034770", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "HP:0002977", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0088116", - "UPHENO:0054970", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", + "UPHENO:0076799", + "UPHENO:0006910", + "UPHENO:0051804", + "HP:0012639", + "UPHENO:0085144", + "UPHENO:0086045", + "UPHENO:0086016", + "HP:0003221", + "UPHENO:0085356", "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0087501", + "UPHENO:0085302", + "UPHENO:0085344", + "HP:0001881", "HP:0000707", - "UPHENO:0086172", - "HP:0001034", - "HP:0001873", - "UPHENO:0002830", + "UPHENO:0088176", + "UPHENO:0002948", + "UPHENO:0000541", + "UPHENO:0086005", + "HP:0000118", "UPHENO:0076675", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", + "UPHENO:0085042", + "UPHENO:0004523", + "HP:0002715", + "UPHENO:0085118", + "HP:0010974", "HP:0012443", - "UPHENO:0026181", - "UPHENO:0084987", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0030791", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0001871", - "UPHENO:0079876", - "HP:0000118", - "UPHENO:0080165", - "HP:0001172", - "UPHENO:0076724", - "UPHENO:0085195", - "HP:0011961", - "UPHENO:0087006", - "HP:0032039", + "PATO:0000001", + "UPHENO:0004459", + "UPHENO:0076286", "UPHENO:0077426", - "HP:0000240", - "HP:0000077", - "UPHENO:0002905", - "HP:0012733", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0059829", - "BFO:0000020", - "UPHENO:0074589", - "HP:0200007", - "HP:0000153", - "HP:0006265", + "HP:0001871", "UPHENO:0075696", - "HP:0011842", - "UPHENO:0081788", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0026183", - "HP:0040068", - "HP:0031704", - "HP:0040070", - "HP:0005922", - "HP:0001045", - "HP:0009601", - "HP:0001507", - "HP:0045060", - "UPHENO:0076723", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0049700", - "HP:0005927", - "HP:0000125", - "HP:0002817", - "HP:0002984", - "HP:0001876", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", - "HP:0040195", + "HP:0001875", + "UPHENO:0076289", + "UPHENO:0086172", "UPHENO:0001005", - "HP:0009121", + "HP:0000001", + "UPHENO:0077822", + "UPHENO:0086019", "UPHENO:0011498", - "HP:0009777", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0085875", - "HP:0011355", - "HP:0009116", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0006910", - "UPHENO:0002907", - "UPHENO:0074575", - "HP:0002011", - "HP:0012145", - "UPHENO:0084766", - "UPHENO:0050008", - "UPHENO:0087518", - "UPHENO:0008523", - "UPHENO:0050108", - "UPHENO:0041075", - "UPHENO:0085144", - "UPHENO:0076703", - "UPHENO:0002371", - "BFO:0000001", + "UPHENO:0081424", + "HP:0009121", + "UPHENO:0085354", "UPHENO:0088166", - "HP:0040064", - "HP:0001167", - "PATO:0000001", - "UPHENO:0026028", - "HP:0011844", - "UPHENO:0080079", - "HP:0001155", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080200", + "UPHENO:0076703", + "UPHENO:0001003", + "HP:0045056", + "UPHENO:0015280", + "UPHENO:0086176", + "HP:0032180", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0050845", + "HP:0430071", + "HP:0011991", + "BFO:0000020", + "UPHENO:0002536", + "HP:0040195", + "UPHENO:0075195", + "UPHENO:0086173", + "UPHENO:0001001", + "UPHENO:0076791", + "HP:0007364", + "UPHENO:0051668", + "HP:0002977", + "UPHENO:0087907", + "HP:0001911", + "UPHENO:0002764", + "HP:0001874", "UPHENO:0076805", - "HP:0025461", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", - "HP:0011793", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026506", - "HP:0008069", - "UPHENO:0021561", - "UPHENO:0085189", - "HP:0000315", - "UPHENO:0085118", - "UPHENO:0012274", - "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0046753", - "UPHENO:0046538", - "UPHENO:0068971", - "UPHENO:0081204", - "UPHENO:0076761", - "HP:0009821", - "HP:0025354", - "HP:0000366", - "HP:0005773", - "UPHENO:0005597", - "UPHENO:0081792", - "HP:0006503", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0054957", - "UPHENO:0004459", - "HP:0040072", - "UPHENO:0002910", - "UPHENO:0076727", - "UPHENO:0086045", - "UPHENO:0081451", - "UPHENO:0087349", - "UPHENO:0082444", - "UPHENO:0020041", - "UPHENO:0081091", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0084928", - "HP:0002973", - "HP:0011121", - "UPHENO:0069294", - "HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0010938", - "HP:0009778", - "HP:0006496", - "UPHENO:0075878", - "UPHENO:0020950", - "UPHENO:0054577", - "HP:0030669", + "HP:0033127", + "UPHENO:0087123", "UPHENO:0087089", - "UPHENO:0003085", - "HP:0002715", - "HP:0008050", - "UPHENO:0020888", - "UPHENO:0075997", - "UPHENO:0081314", - "HP:0009826", - "UPHENO:0075198", - "UPHENO:0041821", - "HP:0045025", - "HP:0000271", - "UPHENO:0001002", - "UPHENO:0087924", - "HP:0012745", - "HP:0005105", - "UPHENO:0000541", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0086005", - "UPHENO:0086201", - "HP:0001510", - "UPHENO:0000543", - "UPHENO:0049874", - "UPHENO:0086049", - "UPHENO:0002948", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0075902", - "HP:0001881", - "UPHENO:0009382", - "UPHENO:0085068", + "HP:0011842", + "HP:0000240", + "UPHENO:0086589", + "HP:0012145", + "HP:0002011", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0020888", + "UPHENO:0069254", + "HP:0002060", + "HP:0000152", + "HP:0010987", + "HP:0000924", + "UPHENO:0081435", + "UPHENO:0080079", + "HP:0001873", + "HP:0000252", + "UPHENO:0087518", + "HP:0100547", + "UPHENO:0046378", + "UPHENO:0002964", + "UPHENO:0001002", + "UPHENO:0002844", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0080200", + "HP:0006254", + "UPHENO:0081566", + "HP:0011873", + "UPHENO:0051612", + "UPHENO:0080352", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0085405", + "HP:0011875", + "UPHENO:0075159", "UPHENO:0087339", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0001872", "UPHENO:0087355", - "UPHENO:0049873", "HP:0005561", - "UPHENO:0084457", - "HP:0000951", - "HP:0000581", - "UPHENO:0002828", - "UPHENO:0081141", - "HP:0011873", - "HP:0020047", - "HP:0011893", - "HP:0032251", - "UPHENO:0085302", - "UPHENO:0085371", - "UPHENO:0085984", - "UPHENO:0086173", - "UPHENO:0069249", - "UPHENO:0080087", - "UPHENO:0076800", - "HP:0031816", - "UPHENO:0080351", - "HP:0009122" + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0051763", + "UPHENO:0084987", + "UPHENO:0048707", + "HP:0012130", + "UPHENO:0046362" ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", - "abnormally localised anatomical entity", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "abnormally localised anatomical entity in independent continuant", - "absent sperm in the independent continuant", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively developmental process", - "absent gamete", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "changed developmental process rate", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", + "abnormal growth", "decreased size of the multicellular organism", + "delayed biological_process", + "Growth delay", "abnormality of anatomical entity height", "abnormality of multicellular organism height", + "Abnormality of body height", + "decreased height of the anatomical entity", "abnormal size of multicellular organism", "abnormal nitrogen compound metabolic process", "abnormal organelle organization", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal chromatin organization", + "Abnormality of chromosome stability", "Chromosome breakage", "abnormal programmed DNA elimination by chromosome breakage", "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Pelvic kidney", + "Abnormal erythrocyte morphology", "Abnormal cellular physiology", + "abnormal biological_process", "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Abnormality of the urinary system", - "shape anatomical entity", - "abnormal genitourinary system", - "Abnormality of the kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "shape kidney", - "abnormality of reproductive system physiology", - "absent sperm", - "Horseshoe kidney", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", + "abnormal protein level", + "abnormal independent continuant protein polypeptide chain level", + "abnormal cellular metabolic process", + "increased level of alpha-fetoprotein", + "increased level of chemical entity", + "abnormal blood protein polypeptide chain level", + "abnormal blood nitrogen molecular entity level", + "abnormal role bodily fluid level", + "abnormal blood alpha-fetoprotein level", + "abnormally decreased number of anatomical entity in the independent continuant", + "Neutropenia", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", "abnormal erythrocyte morphology", - "Abnormality of body height", - "abnormal external nose morphology", - "Abnormality of the nose", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "increased size of the anatomical entity in independent continuant", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "abnormal mandible morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "aplasia or hypoplasia of mandible", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "Morphological central nervous system abnormality", - "abnormal facial skeleton morphology", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "aplasia or hypoplasia of telencephalon", - "Decreased head circumference", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of anatomical entity", + "Abnormality of the immune system", + "Abnormal leukocyte count", + "abnormal granulocyte morphology", "delayed growth", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Squamous cell carcinoma", - "abnormal integument", - "abnormal biological_process", - "Hyperpigmentation of the skin", - "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Abnormality of skin pigmentation", - "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Cafe-au-lait spot", - "Macule", + "Decreased head circumference", + "abnormal DNA metabolic process", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormally decreased number of myeloid cell", + "Abnormal circulating alpha-fetoprotein concentration", + "abnormal alpha-fetoprotein level", + "abnormal central nervous system morphology", "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "Short palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal digit", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", + "abnormal immune system", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Abnormal cerebral morphology", + "abnormal independent continuant protein level", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of skull size", + "Abnormality of neutrophils", + "abnormally decreased number of cell in the independent continuant", + "phenotype", + "quality", + "Growth abnormality", + "abnormal cellular process", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "Abnormality of digestive system morphology", - "abnormal limb", - "Abnormal appendicular skeleton morphology", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "Short stature", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal head morphology", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "abnormal neutrophil", + "Abnormal cell morphology", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal cellular component organization", + "specifically dependent continuant", + "Abnormal circulating organic compound concentration", + "abnormal immune system morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "Thrombocytopenia", + "Abnormal forebrain morphology", + "Anemia", + "Abnormality of the head", + "abnormal phenotype by ontology source", + "Abnormal cellular phenotype", + "phenotype by ontology source", + "abnormal leukocyte morphology", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal nervous system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic system", + "entity", + "Abnormality of blood and blood-forming tissues", + "abnormal cell morphology", + "abnormal size of skull", + "abnormally decreased number of hematopoietic cell", "abnormal head", - "abnormal location of anatomical entity", - "Hypermelanotic macule", "abnormal bone marrow morphology", - "increased size of the anatomical entity", - "Abnormal nervous system morphology", - "abnormal limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "increased qualitatively biological_process in independent continuant", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "increased biological_process", "abnormal myeloid cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "absent anatomical entity", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", "abnormal forebrain morphology", - "absent germ cell", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "Abnormal ear physiology", "Abnormal myeloid cell morphology", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of skull size", - "abnormal face morphology", - "Limb undergrowth", - "abnormal platelet", - "abnormal reproductive system", - "Abnormality of head or neck", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal phenotype by ontology source", - "absent manual digit", + "abnormally decreased number of leukocyte in the independent continuant", "abnormal anatomical entity morphology in the independent continuant", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "absent digit", - "quality", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormality of the skin", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "abnormal sensory perception", - "abnormal manus", - "Finger aplasia", - "abnormal skull morphology", - "Abnormal platelet morphology", - "mandible hypoplasia", - "phenotype by ontology source", - "aplastic manual digit 1", - "Aplasia/Hypoplasia of the thumb", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "abnormal arm", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "decreased biological_process", - "Short stature", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased length of palpebral fissure", + "Abnormal neutrophil count", "abnormal blood cell", - "abnormal pigmentation", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", + "All", + "continuant", + "abnormal craniocervical region morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular immune system morphology", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal anatomical entity morphology in the brain", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "abnormal telencephalon morphology", + "Abnormal leukocyte morphology", + "abnormal brain morphology", + "Abnormal skull morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "Abnormal circulating metabolite concentration", + "Abnormality of head or neck", + "Morphological central nervous system abnormality", "decreased height of the multicellular organism", - "Short long bone", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Abnormality of the head", - "Neoplasm of the skin", - "decreased length of long bone", - "abnormal radius bone morphology", - "abnormal face", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Aplasia/Hypoplasia of the radius", - "anatomical entity hypoplasia in independent continuant", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "phenotype", - "Abnormal cell morphology", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "Abnormal reproductive system morphology", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal palpebral fissure", - "abnormally decreased number of cell", - "absent sperm in the semen", - "decreased length of anatomical entity", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "abnormal limb long bone morphology", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "abnormal bone marrow cell", + "abnormal chromatin organization", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Aplasia/Hypoplasia involving the central nervous system", "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "decreased size of the mandible", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased spermatogenesis", - "abnormal kidney morphology", - "decreased width of the palpebral fissure", - "Abnormality of the palpebral fissures", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormal eyelid morphology", - "abnormal hematopoietic system", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal ocular adnexa", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Narrow palpebral fissure", - "decreased height of the anatomical entity", - "Abnormality of the face", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Growth delay", - "abnormal cell", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical enitites of type platelet", + "decreased size of the anatomical entity", + "Abnormal granulocyte count", + "abnormally decreased number of neutrophil", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "Abnormality of the nervous system", + "abnormal erythroid lineage cell morphology", + "increased level of protein", + "abnormal skull morphology", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", "abnormally decreased number of platelet", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type platelet", "abnormal platelet morphology", - "abnormal sensory perception of sound", "Abnormal platelet count", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Pancytopenia", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Anemia", - "abnormal bone marrow cell", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", + "abnormal platelet", "Abnormality of thrombocytes", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Abnormality of the digestive system", - "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "abnormal mouth morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "bone element hypoplasia in face" + "abnormal bone marrow cell morphology", + "Bone marrow hypocellularity", + "Abnormality of bone marrow cell morphology", + "abnormal hematopoietic system morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal independent continuant alpha-fetoprotein level", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "abnormal chemical entity level", + "abnormal role independent continuant level" ], - "has_phenotype_count": 20, + "has_phenotype_count": 8, "highlight": null, "score": null }, { - "id": "MONDO:0024525", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", + "name": "Fanconi anemia complementation group U", "full_name": null, - "deprecated": null, - "description": null, - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0001942", - "HP:0003648", - "HP:0001324", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", - "HP:0002748", - "HP:0034359", - "HP:0003076", - "HP:0003155", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049" - ], - "has_phenotype_label": [ - "Osteomalacia", - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", - "Rickets", - "Impaired renal tubular reabsorption of phosphate", - "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis" - ], - "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", - "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", - "UPHENO:0068442", - "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", - "UPHENO:0081777", - "UPHENO:0066927", - "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", + "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:0009777", + "HP:0011835", + "HP:0000252", + "HP:0002984", + "HP:0001510", + "HP:0003974", + "HP:0001643", + "HP:0012799", + "HP:0010035" + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Ectopic kidney", + "Absent thumb", + "Absent scaphoid", + "Microcephaly", + "Hypoplasia of the radius", + "Growth delay", + "Absent radius", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal" + ], + "has_phenotype_closure": [ + "HP:0005914", + "HP:0010048", + "HP:0009659", + "HP:0009851", + "UPHENO:0080191", + "HP:0010026", + "HP:0010035", + "HP:0010009", + "UPHENO:0084458", + "HP:0005918", + "UPHENO:0026055", + "UPHENO:0080168", + "UPHENO:0081515", + "HP:0010242", + "UPHENO:0025593", + "UPHENO:0076755", + "HP:0009802", + "UPHENO:0021800", + "HP:0009602", + "UPHENO:0081455", + "HP:0012638", + "UPHENO:0080555", + "UPHENO:0002433", + "UPHENO:0082875", + "UPHENO:0080556", + "HP:0012799", + "UPHENO:0078730", + "UPHENO:0081700", + "UPHENO:0081709", + "HP:0006824", + "UPHENO:0087369", + "HP:0010628", + "UPHENO:0026144", + "UPHENO:0076729", + "HP:0009825", + "HP:0001191", + "HP:0009121", + "HP:0033353", + "HP:0009823", + "UPHENO:0087334", + "HP:0002011", + "UPHENO:0001001", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0080099", + "HP:0007364", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0081511", + "HP:0001155", + "HP:0005922", + "UPHENO:0004508", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0084766", + "UPHENO:0016527", + "UPHENO:0022529", + "UPHENO:0080173", + "UPHENO:0031839", + "HP:0009601", + "HP:0100542", + "HP:0001507", + "UPHENO:0025945", + "UPHENO:0080114", + "UPHENO:0006910", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0003026", + "UPHENO:0011498", + "HP:0004243", + "UPHENO:0002696", "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", + "UPHENO:0087309", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0008523", + "UPHENO:0087518", + "HP:0009380", + "UPHENO:0084448", + "HP:0009824", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "HP:0009658", + "HP:0000924", + "HP:0009834", + "UPHENO:0081435", + "UPHENO:0002830", + "UPHENO:0079870", + "UPHENO:0086700", + "UPHENO:0078606", + "HP:0000001", + "HP:0025354", + "HP:0009821", + "UPHENO:0002973", + "HP:0000301", + "UPHENO:0080126", + "UPHENO:0076799", + "UPHENO:0080187", + "HP:0001939", + "HP:0010827", + "HP:0000271", + "HP:0003019", + "HP:0004231", + "UPHENO:0076727", + "UPHENO:0001003", + "UPHENO:0050121", + "HP:0040070", + "HP:0000707", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0076779", "UPHENO:0002816", - "HP:0001824", - "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", + "UPHENO:0053580", + "UPHENO:0079876", + "UPHENO:0050116", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0021840", "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", - "HP:0002148", - "UPHENO:0050121", - "UPHENO:0046283", - "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", - "HP:0003111", + "UPHENO:0001002", + "HP:0011297", + "UPHENO:0076723", + "UPHENO:0049748", + "HP:0011017", "HP:0000079", - "HP:0004379", - "HP:0004360", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", - "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", - "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", + "HP:0000929", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0002708", + "UPHENO:0084447", + "UPHENO:0002320", + "UPHENO:0050021", + "HP:0045060", + "HP:0001291", + "UPHENO:0053588", + "UPHENO:0081524", + "HP:0006496", + "UPHENO:0009400", + "BFO:0000001", + "UPHENO:0050845", + "UPHENO:0025701", + "BFO:0000020", + "UPHENO:0026028", + "PATO:0000001", + "HP:0000086", + "HP:0003220", + "HP:0001367", + "UPHENO:0081755", + "UPHENO:0081466", + "HP:0040012", + "HP:0002973", + "UPHENO:0087496", + "UPHENO:0076724", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0001510", + "HP:0001172", + "HP:0030962", + "UPHENO:0002961", + "HP:0000118", + "HP:0011804", + "UPHENO:0026506", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0002984", "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0080352", - "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", - "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", - "UPHENO:0068089", - "UPHENO:0051937", - "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", + "UPHENO:0009399", + "UPHENO:0080325", + "UPHENO:0002642", + "HP:0001627", + "UPHENO:0081790", + "UPHENO:0087006", + "UPHENO:0076767", + "UPHENO:0002896", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0012210", + "UPHENO:0049990", + "UPHENO:0075902", + "UPHENO:0080160", + "HP:0002060", + "UPHENO:0026181", + "HP:0005916", + "HP:0006265", + "HP:0006502", "UPHENO:0075696", "HP:0011842", - "HP:0002150", + "UPHENO:0087089", + "UPHENO:0086635", "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", - "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", - "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", - "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", - "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", + "HP:0011805", + "HP:0009777", + "UPHENO:0026023", + "UPHENO:0076702", + "UPHENO:0009382", + "UPHENO:0087186", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0080362", + "UPHENO:0004523", + "HP:0001167", + "HP:0040064", + "HP:0009810", + "UPHENO:0001005", + "HP:0040195", + "HP:0009767", "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", - "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0001992", - "HP:0002086", + "UPHENO:0002908", + "HP:0012443", + "HP:0002977", + "UPHENO:0002764", + "UPHENO:0076805", "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", + "UPHENO:0026128", + "HP:0000152", + "BFO:0000002", + "HP:0012639", + "UPHENO:0020888", + "UPHENO:0003587", + "UPHENO:0075220", + "UPHENO:0076772", + "UPHENO:0080200", + "UPHENO:0012274", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0087907", + "HP:0006501", + "HP:0009826", + "UPHENO:0009341", + "UPHENO:0046538", + "UPHENO:0081204", + "UPHENO:0026001", + "UPHENO:0081792", + "UPHENO:0080164", + "HP:0000234", + "UPHENO:0087018", + "HP:0006503", + "HP:0009815", + "UPHENO:0088186", + "UPHENO:0046505", + "HP:0040072", + "UPHENO:0081521", + "UPHENO:0002910", + "HP:0030319", + "UPHENO:0020041", + "UPHENO:0076710", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", + "HP:0005773", + "HP:0031910", + "UPHENO:0000541", "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", - "UPHENO:0050116", - "HP:0012606", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", - "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", - "UPHENO:0051712", - "UPHENO:0049587", - "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616" - ], - "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", - "Pain", - "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", - "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", + "HP:0003953", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0076703", + "HP:0003974", + "HP:0009822", + "HP:0001626", + "UPHENO:0033572", + "HP:0011835", + "UPHENO:0015324", + "UPHENO:0075655", + "UPHENO:0009338", + "UPHENO:0076765", + "HP:0025015", + "UPHENO:0086797", + "HP:0011603", + "HP:0001643", + "UPHENO:0033603", + "UPHENO:0076810", + "HP:0030680", + "UPHENO:0076776", + "HP:0001324", + "HP:0045010", + "HP:0003011", + "UPHENO:0080083", + "HP:0000252", + "HP:0011799", + "UPHENO:0049874", + "HP:0002597", + "HP:0000759", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0410008", + "HP:0000240", + "UPHENO:0076722" + ], + "has_phenotype_closure_label": [ + "abnormal metacarpal bone of digit 1 morphology", + "Aplasia of the 1st metacarpal", + "aplastic metacarpal bone of digit 1", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "absent metacarpal bone in the metacarpus region", + "aplastic phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "Aplasia of the proximal phalanges of the hand", + "abnormal phalanx morphology", + "Abnormal metacarpal morphology", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "absent metacarpal bone", + "Abnormality of thumb phalanx", + "Aplasia of metacarpal bones", + "aplasia or hypoplasia of metacarpal bone", + "aplasia or hypoplasia of phalanx of manus", + "Abnormality of the face", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "abnormal cranial nerve morphology", + "Abnormal skeletal muscle morphology", + "paralysed cranial nerve", + "absent carpal bone in the independent continuant", + "quality", + "abnormal skeletal joint morphology in the pectoral complex", + "Carpal bone aplasia", + "Abnormal joint morphology", + "Abnormal 1st metacarpal morphology", + "Aplasia/Hypoplasia involving the carpal bones", + "abnormal radiale", + "Abnormality of the urinary system", "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", + "abnormal manual digit morphology in the independent continuant", + "Absent scaphoid", + "aplastic carpal bone", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal manual digit 1 morphology", + "paralysed anatomical entity", "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", - "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", + "absent anatomical entity in the independent continuant", + "Abnormal axial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "abnormal anatomical entity morphology in the manus", + "Short long bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormally localised kidney", + "abnormal metacarpal bone morphology", + "Abnormality of limb bone", + "absent anatomical entity in the skeletal system", + "abnormal autopod region morphology", + "Absent thumb", + "Aplasia/Hypoplasia of the phalanges of the hand", + "aplastic anatomical entity", + "abnormal vasculature", + "Abnormal digit morphology", + "Abnormality of the musculoskeletal system", + "Aplasia/Hypoplasia of fingers", + "Abnormal finger morphology", + "Abnormal thumb morphology", "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", - "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", - "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", - "abnormal homeostatic process", - "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", - "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", - "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", - "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", - "Abnormality of urine homeostasis", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "Abnormality of facial soft tissue", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal skeletal joint morphology in the independent continuant", + "abnormal brain morphology", + "absent metacarpal bone in the independent continuant", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormal forebrain morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "Phenotypic abnormality", + "Aplasia/Hypoplasia of the thumb", "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", - "abnormality of renal system physiology", - "quality", - "abnormal amino-acid betaine level", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", - "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", + "absent digit", + "Absent forearm bone", + "aplasia or hypoplasia of manual digit", + "absent anatomical entity in the metacarpus region", + "abnormal nitrogen compound metabolic process", + "Abnormality of the hand", + "abnormal peripheral nervous system", + "Aplasia/hypoplasia involving bones of the extremities", + "aplastic manual digit 1 phalanx", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Abnormality of the skeletal system", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal kidney morphology", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "abnormal renal system morphology", + "abnormal location of anatomical entity", + "abnormal forelimb morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "Abnormal proximal phalanx morphology of the hand", + "Finger aplasia", + "continuant", + "abnormal craniocervical region morphology", + "abnormal limb", "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", + "absent radiale", + "abnormal peripheral nervous system morphology", + "Abnormal cranial nerve morphology", + "absent anatomical entity in the multicellular organism", + "Abnormality of metabolism/homeostasis", + "abnormal organelle organization", + "Abnormality of the musculature", + "abnormal digit", + "abnormal nerve", + "absent manual digit", + "abnormal phenotype by ontology source", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal limb morphology", + "abnormal primary metabolic process", + "abnormal coronary vessel morphology", + "bone element hypoplasia in independent continuant", + "Unilateral facial palsy", + "Patent ductus arteriosus", + "abnormal carpal region", + "Abnormal upper limb bone morphology", + "agenesis of anatomical entity", + "Abnormality of the scaphoid", + "abnormal manus morphology", + "abnormal cellular process", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal cell", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", + "abnormal proximal phalanx of manus morphology", + "Ectopic kidney", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal carpal bone morphology", "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", + "Abnormal long bone morphology", + "abnormal ductus arteriosus morphology", + "Upper limb undergrowth", + "Abnormality of the upper urinary tract", + "absent forelimb zeugopod bone", + "Partial absence of thumb", + "decreased anatomical entity strength", + "abnormal forebrain morphology", + "Abnormal cranial nerve physiology", + "abnormal skull morphology", + "abnormal anatomical entity topology in independent continuant", + "Growth delay", + "abnormality of muscle organ physiology", "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", + "All", + "Aplasia involving bones of the extremities", + "Abnormality of the wrist", + "Growth abnormality", + "Abnormal localization of kidney", + "absent anatomical entity", + "abnormally localised anatomical entity in independent continuant", "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", - "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", + "Abnormal appendicular skeleton morphology", + "abnormally localised anatomical entity", + "Abnormal blood vessel morphology", + "absent carpal bone in the limb", + "abnormal limb bone morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "decreased length of anatomical entity", + "Muscle weakness", + "Abnormal carpal morphology", + "Abnormality of upper limb joint", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "abnormal carpal bone", + "abnormal axial skeleton plus cranial skeleton morphology", "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", + "abnormal anatomical entity morphology in the brain", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "aplasia or hypoplasia of carpal bone", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "Aplasia/Hypoplasia involving the metacarpal bones", "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", + "decreased muscle organ strength", + "Abnormality of skull size", + "abnormal head morphology", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skull morphology", + "absent radius bone in the independent continuant", + "abnormal blood vessel morphology", + "abnormal incomplete closing of the anatomical entity", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of brain morphology", + "Abnormality of head or neck", + "abnormal skeletal joint morphology", + "Morphological central nervous system abnormality", + "Aplasia involving forearm bones", + "abnormal head", + "abnormal nervous system morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "abnormal long bone morphology", + "Abnormality of the head", + "Abnormality of the nervous system", + "Limb undergrowth", + "decreased length of long bone", + "abnormal radius bone morphology", + "abnormal face", + "Aplasia/Hypoplasia of the radius", + "abnormal artery morphology in the independent continuant", + "anatomical entity hypoplasia in independent continuant", + "Abnormal heart morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal forelimb zeugopod bone", + "Short forearm", "delayed biological_process", - "abnormal growth", - "abnormal blood uric acid level", + "Aplasia involving bones of the upper limbs", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "aplasia or hypoplasia of radius bone", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "Absent radius", + "absent radius bone in the forelimb", + "anatomical entity hypoplasia", + "absent radius bone", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "abnormal opening of the anatomical entity", + "abnormal phalanx of manus morphology", + "abnormal cardiovascular system morphology", + "Abnormal vascular morphology", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "abnormal heart morphology", + "abnormal vascular system morphology", "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", + "abnormal cardiovascular system", + "Abnormal hand morphology", + "Abnormal morphology of the great vessels", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Aplasia of the phalanges of the hand", + "abnormal systemic artery morphology", + "Congenital malformation of the great arteries", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "Hypokalemia", - "Decreased circulating purine concentration" + "abnormal bone of pectoral complex morphology", + "Abnormality of cardiovascular system morphology", + "abnormal great vessel of heart morphology", + "Facial palsy", + "aplasia or hypoplasia of proximal phalanx of manus", + "Abnormality of facial musculature", + "abnormal growth", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormal nervous system physiology", + "abnormal artery morphology", + "abnormality of anatomical entity physiology", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "abnormal cellular component organization", + "Abnormality of the peripheral nervous system", + "abnormal muscle organ morphology", + "abnormal facial nerve", + "abnormal nervous system", + "abnormal musculature", + "Aplasia/hypoplasia involving forearm bones", + "abnormal facial muscle" ], - "has_phenotype_count": 39, + "has_phenotype_count": 11, "highlight": null, "score": null } diff --git a/frontend/fixtures/phenotype-explorer-compare.json b/frontend/fixtures/phenotype-explorer-compare.json index b0a08bbe8..33edf866b 100644 --- a/frontend/fixtures/phenotype-explorer-compare.json +++ b/frontend/fixtures/phenotype-explorer-compare.json @@ -1,12 +1,12 @@ { "subject_termset": { - "MP:0002169": { - "id": "MP:0002169", - "label": "no abnormal phenotype detected (MPO)" - }, "MP:0010771": { "id": "MP:0010771", "label": "integument phenotype (MPO)" + }, + "MP:0002169": { + "id": "MP:0002169", + "label": "no abnormal phenotype detected (MPO)" } }, "object_termset": { diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json index 32a8d4060..cd464946e 100644 --- a/frontend/fixtures/phenotype-explorer-multi-compare.json +++ b/frontend/fixtures/phenotype-explorer-multi-compare.json @@ -22,45 +22,45 @@ "has_phenotype_closure_label": [], "has_phenotype_count": null }, - "score": 0.5499139182472516, + "score": 0.5499139182472517, "similarity": { "subject_termset": { - "HP:0002020": { - "id": "HP:0002020", - "label": "Gastroesophageal reflux (HPO)" - }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery (HPO)" }, "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis (HPO)" }, - "HP:0002616": { - "id": "HP:0002616", - "label": "Aortic root aneurysm (HPO)" - }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation (HPO)" }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" } + "HP:0002020": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux (HPO)" + }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, + "HP:0002616": { + "id": "HP:0002616", + "label": "Aortic root aneurysm (HPO)" + }, + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" } }, "object_termset": { - "HP:0000767": { "id": "HP:0000767", "label": "Pectus excavatum (HPO)" }, - "HP:0000023": { "id": "HP:0000023", "label": "Inguinal hernia (HPO)" }, - "HP:0100785": { "id": "HP:0100785", "label": "Insomnia (HPO)" }, "HP:0002108": { "id": "HP:0002108", "label": "Spontaneous pneumothorax (HPO)" }, - "HP:0000490": { "id": "HP:0000490", "label": "Deeply set eye (HPO)" }, + "HP:0000545": { "id": "HP:0000545", "label": "Myopia (HPO)" }, + "HP:0100785": { "id": "HP:0100785", "label": "Insomnia (HPO)" }, + "HP:0000023": { "id": "HP:0000023", "label": "Inguinal hernia (HPO)" }, "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm (HPO)" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, + "HP:0000767": { "id": "HP:0000767", "label": "Pectus excavatum (HPO)" }, "HP:0000268": { "id": "HP:0000268", "label": "Dolichocephaly (HPO)" }, - "HP:0000545": { "id": "HP:0000545", "label": "Myopia (HPO)" } + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, + "HP:0000490": { "id": "HP:0000490", "label": "Deeply set eye (HPO)" } }, "subject_best_matches": { "HP:0001533": { @@ -206,16 +206,16 @@ "HP:0010749": { "match_source": "HP:0010749", "match_source_label": "Blepharochalasis (HPO)", - "match_target": "HP:0000490", - "match_target_label": "Deeply set eye (HPO)", - "score": 0.4, + "match_target": "HP:0000545", + "match_target_label": "Myopia (HPO)", + "score": 0.3389830508474576, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0010749", "subject_label": null, "subject_source": null, - "object_id": "HP:0000490", + "object_id": "HP:0000545", "object_label": null, "object_source": null, "ancestor_id": "HP:0000315", @@ -224,10 +224,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.709281511796768, - "jaccard_similarity": 0.4, + "jaccard_similarity": 0.3389830508474576, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.7560502853616429 + "phenodigm_score": 1.6165753204570361 }, "score_metric": "jaccard_similarity" }, @@ -432,16 +432,16 @@ "HP:0002108": { "match_source": "HP:0002108", "match_source_label": "Spontaneous pneumothorax (HPO)", - "match_target": "HP:0001763", - "match_target_label": "Pes planus (HPO)", - "score": 0.32653061224489793, + "match_target": "HP:0002020", + "match_target_label": "Gastroesophageal reflux (HPO)", + "score": 0.2926829268292683, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0002108", "subject_label": null, "subject_source": null, - "object_id": "HP:0001763", + "object_id": "HP:0002020", "object_label": null, "object_source": null, "ancestor_id": "HP:0000118", @@ -450,10 +450,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 4.118848568918744, - "jaccard_similarity": 0.32653061224489793, + "jaccard_similarity": 0.2926829268292683, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.1597112334340214 + "phenodigm_score": 1.09796022437868 }, "score_metric": "jaccard_similarity" }, @@ -514,7 +514,7 @@ "score_metric": "jaccard_similarity" } }, - "average_score": 0.5499139182472516, + "average_score": 0.5499139182472517, "best_score": 1.0, "metric": "JaccardSimilarity" } @@ -545,66 +545,66 @@ "score": 0.83497558824921, "similarity": { "subject_termset": { - "HP:0004944": { - "id": "HP:0004944", - "label": "Dilatation of the cerebral artery (HPO)" - }, - "HP:0002020": { - "id": "HP:0002020", - "label": "Gastroesophageal reflux (HPO)" - }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm (HPO)" }, "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis (HPO)" }, + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation (HPO)" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" } - }, - "object_termset": { - "HP:0002999": { - "id": "HP:0002999", - "label": "Patellar dislocation (HPO)" - }, - "HP:0004944": { - "id": "HP:0004944", - "label": "Dilatation of the cerebral artery (HPO)" - }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux (HPO)" }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, + "HP:0004944": { + "id": "HP:0004944", + "label": "Dilatation of the cerebral artery (HPO)" + } + }, + "object_termset": { "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm (HPO)" }, "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis (HPO)" }, - "HP:0002829": { "id": "HP:0002829", "label": "Arthralgia (HPO)" }, - "HP:0003394": { "id": "HP:0003394", "label": "Muscle spasm (HPO)" }, + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, + "HP:0001278": { + "id": "HP:0001278", + "label": "Orthostatic hypotension (HPO)" + }, + "HP:0003010": { + "id": "HP:0003010", + "label": "Prolonged bleeding time (HPO)" + }, "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation (HPO)" }, + "HP:0002829": { "id": "HP:0002829", "label": "Arthralgia (HPO)" }, + "HP:0003394": { "id": "HP:0003394", "label": "Muscle spasm (HPO)" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, + "HP:0002020": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux (HPO)" + }, "HP:0003771": { "id": "HP:0003771", "label": "Pulp calcification (HPO)" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, - "HP:0001278": { - "id": "HP:0001278", - "label": "Orthostatic hypotension (HPO)" + "HP:0004944": { + "id": "HP:0004944", + "label": "Dilatation of the cerebral artery (HPO)" }, - "HP:0002827": { "id": "HP:0002827", "label": "Hip dislocation (HPO)" }, - "HP:0003010": { - "id": "HP:0003010", - "label": "Prolonged bleeding time (HPO)" + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, + "HP:0002999": { + "id": "HP:0002999", + "label": "Patellar dislocation (HPO)" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } + "HP:0002827": { "id": "HP:0002827", "label": "Hip dislocation (HPO)" } }, "subject_best_matches": { "HP:0001533": { @@ -808,16 +808,16 @@ "HP:0001278": { "match_source": "HP:0001278", "match_source_label": "Orthostatic hypotension (HPO)", - "match_target": "HP:0004944", - "match_target_label": "Dilatation of the cerebral artery (HPO)", - "score": 0.2903225806451613, + "match_target": "HP:0002616", + "match_target_label": "Aortic root aneurysm (HPO)", + "score": 0.3076923076923077, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0001278", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0002616", "object_label": null, "object_source": null, "ancestor_id": "HP:0002597", @@ -826,10 +826,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 8.38058018831398, - "jaccard_similarity": 0.2903225806451613, + "jaccard_similarity": 0.3076923076923077, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.55983065349256 + "phenodigm_score": 1.6058144531491685 }, "score_metric": "jaccard_similarity" }, @@ -976,16 +976,16 @@ "HP:0002829": { "match_source": "HP:0002829", "match_source_label": "Arthralgia (HPO)", - "match_target": "HP:0001533", - "match_target_label": "Slender build (HPO)", - "score": 0.23255813953488372, + "match_target": "HP:0012450", + "match_target_label": "Chronic constipation (HPO)", + "score": 0.38461538461538464, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0002829", "subject_label": null, "subject_source": null, - "object_id": "HP:0001533", + "object_id": "HP:0012450", "object_label": null, "object_source": null, "ancestor_id": "HP:0000118", @@ -994,10 +994,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 4.118848568918744, - "jaccard_similarity": 0.23255813953488372, + "jaccard_similarity": 0.38461538461538464, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.9787092316994161 + "phenodigm_score": 1.2586391565922337 }, "score_metric": "jaccard_similarity" }, @@ -1032,16 +1032,16 @@ "HP:0003010": { "match_source": "HP:0003010", "match_source_label": "Prolonged bleeding time (HPO)", - "match_target": "HP:0001533", - "match_target_label": "Slender build (HPO)", - "score": 0.25, + "match_target": "HP:0002616", + "match_target_label": "Aortic root aneurysm (HPO)", + "score": 0.28205128205128205, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0003010", "subject_label": null, "subject_source": null, - "object_id": "HP:0001533", + "object_id": "HP:0002616", "object_label": null, "object_source": null, "ancestor_id": "HP:0000118", @@ -1050,10 +1050,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 4.118848568918744, - "jaccard_similarity": 0.25, + "jaccard_similarity": 0.28205128205128205, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.0147473292547686 + "phenodigm_score": 1.077834179936144 }, "score_metric": "jaccard_similarity" }, @@ -1088,16 +1088,16 @@ "HP:0003771": { "match_source": "HP:0003771", "match_source_label": "Pulp calcification (HPO)", - "match_target": "HP:0012450", - "match_target_label": "Chronic constipation (HPO)", - "score": 0.2857142857142857, + "match_target": "HP:0002020", + "match_target_label": "Gastroesophageal reflux (HPO)", + "score": 0.26666666666666666, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0003771", "subject_label": null, "subject_source": null, - "object_id": "HP:0012450", + "object_id": "HP:0002020", "object_label": null, "object_source": null, "ancestor_id": "HP:0025031", @@ -1106,10 +1106,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.826350815132431, - "jaccard_similarity": 0.2857142857142857, + "jaccard_similarity": 0.26666666666666666, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.495359566423735 + "phenodigm_score": 1.4446545898709888 }, "score_metric": "jaccard_similarity" }, @@ -1172,16 +1172,16 @@ "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue (HPO)", - "match_target": "HP:0004944", - "match_target_label": "Dilatation of the cerebral artery (HPO)", - "score": 0.20408163265306123, + "match_target": "HP:0010749", + "match_target_label": "Blepharochalasis (HPO)", + "score": 0.18867924528301888, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0010749", "object_label": null, "object_source": null, "ancestor_id": "HP:0000118", @@ -1190,10 +1190,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 4.118848568918744, - "jaccard_similarity": 0.20408163265306123, + "jaccard_similarity": 0.18867924528301888, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.9168322314336805 + "phenodigm_score": 0.8815561464924574 }, "score_metric": "jaccard_similarity" }, @@ -1261,78 +1261,78 @@ "id": "HP:0002020", "label": "Gastroesophageal reflux (HPO)" }, - "HP:0002616": { - "id": "HP:0002616", - "label": "Aortic root aneurysm (HPO)" + "HP:0004944": { + "id": "HP:0004944", + "label": "Dilatation of the cerebral artery (HPO)" }, "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation (HPO)" }, - "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis (HPO)" }, "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, - "HP:0004944": { - "id": "HP:0004944", - "label": "Dilatation of the cerebral artery (HPO)" - } + "HP:0002616": { + "id": "HP:0002616", + "label": "Aortic root aneurysm (HPO)" + }, + "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis (HPO)" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" } }, "object_termset": { - "HP:0001653": { - "id": "HP:0001653", - "label": "Mitral regurgitation (HPO)" - }, - "HP:0012432": { "id": "HP:0012432", "label": "Chronic fatigue (HPO)" }, - "HP:0001634": { - "id": "HP:0001634", - "label": "Mitral valve prolapse (HPO)" + "HP:0003179": { + "id": "HP:0003179", + "label": "Protrusio acetabuli (HPO)" }, "HP:0004970": { "id": "HP:0004970", "label": "Ascending tubular aorta aneurysm (HPO)" }, - "HP:0000268": { "id": "HP:0000268", "label": "Dolichocephaly (HPO)" }, - "HP:0005059": { - "id": "HP:0005059", - "label": "Arthralgia/arthritis (HPO)" + "HP:0002705": { + "id": "HP:0002705", + "label": "High, narrow palate (HPO)" }, - "HP:0002616": { - "id": "HP:0002616", - "label": "Aortic root aneurysm (HPO)" + "HP:0000767": { "id": "HP:0000767", "label": "Pectus excavatum (HPO)" }, + "HP:0007800": { + "id": "HP:0007800", + "label": "Increased axial length of the globe (HPO)" }, - "HP:0001704": { - "id": "HP:0001704", - "label": "Tricuspid valve prolapse (HPO)" + "HP:0002108": { + "id": "HP:0002108", + "label": "Spontaneous pneumothorax (HPO)" }, - "HP:0000023": { "id": "HP:0000023", "label": "Inguinal hernia (HPO)" }, - "HP:0000545": { "id": "HP:0000545", "label": "Myopia (HPO)" }, + "HP:0000490": { "id": "HP:0000490", "label": "Deeply set eye (HPO)" }, "HP:0002360": { "id": "HP:0002360", "label": "Sleep disturbance (HPO)" }, "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, - "HP:0000490": { "id": "HP:0000490", "label": "Deeply set eye (HPO)" }, - "HP:0100785": { "id": "HP:0100785", "label": "Insomnia (HPO)" }, - "HP:0002108": { - "id": "HP:0002108", - "label": "Spontaneous pneumothorax (HPO)" - }, "HP:0001659": { "id": "HP:0001659", "label": "Aortic regurgitation (HPO)" }, - "HP:0007800": { - "id": "HP:0007800", - "label": "Increased axial length of the globe (HPO)" + "HP:0005059": { + "id": "HP:0005059", + "label": "Arthralgia/arthritis (HPO)" }, - "HP:0002705": { - "id": "HP:0002705", - "label": "High, narrow palate (HPO)" + "HP:0012432": { "id": "HP:0012432", "label": "Chronic fatigue (HPO)" }, + "HP:0000023": { "id": "HP:0000023", "label": "Inguinal hernia (HPO)" }, + "HP:0001653": { + "id": "HP:0001653", + "label": "Mitral regurgitation (HPO)" }, - "HP:0000767": { "id": "HP:0000767", "label": "Pectus excavatum (HPO)" }, - "HP:0003179": { - "id": "HP:0003179", - "label": "Protrusio acetabuli (HPO)" + "HP:0000268": { "id": "HP:0000268", "label": "Dolichocephaly (HPO)" }, + "HP:0002616": { + "id": "HP:0002616", + "label": "Aortic root aneurysm (HPO)" + }, + "HP:0100785": { "id": "HP:0100785", "label": "Insomnia (HPO)" }, + "HP:0001634": { + "id": "HP:0001634", + "label": "Mitral valve prolapse (HPO)" + }, + "HP:0000545": { "id": "HP:0000545", "label": "Myopia (HPO)" }, + "HP:0001704": { + "id": "HP:0001704", + "label": "Tricuspid valve prolapse (HPO)" } }, "subject_best_matches": { @@ -1451,8 +1451,8 @@ "HP:0004944": { "match_source": "HP:0004944", "match_source_label": "Dilatation of the cerebral artery (HPO)", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm (HPO)", + "match_target": "HP:0004970", + "match_target_label": "Ascending tubular aorta aneurysm (HPO)", "score": 0.5185185185185185, "match_subsumer": null, "match_subsumer_label": null, @@ -1460,7 +1460,7 @@ "subject_id": "HP:0004944", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "HP:0004970", "object_label": null, "object_source": null, "ancestor_id": "HP:0002617", @@ -1479,16 +1479,16 @@ "HP:0010749": { "match_source": "HP:0010749", "match_source_label": "Blepharochalasis (HPO)", - "match_target": "HP:0000490", - "match_target_label": "Deeply set eye (HPO)", - "score": 0.4, + "match_target": "HP:0000545", + "match_target_label": "Myopia (HPO)", + "score": 0.3389830508474576, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0010749", "subject_label": null, "subject_source": null, - "object_id": "HP:0000490", + "object_id": "HP:0000545", "object_label": null, "object_source": null, "ancestor_id": "HP:0000315", @@ -1497,10 +1497,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.709281511796768, - "jaccard_similarity": 0.4, + "jaccard_similarity": 0.3389830508474576, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.7560502853616429 + "phenodigm_score": 1.6165753204570361 }, "score_metric": "jaccard_similarity" }, @@ -1537,16 +1537,16 @@ "HP:0000023": { "match_source": "HP:0000023", "match_source_label": "Inguinal hernia (HPO)", - "match_target": "HP:0002020", - "match_target_label": "Gastroesophageal reflux (HPO)", - "score": 0.36363636363636365, + "match_target": "HP:0012450", + "match_target_label": "Chronic constipation (HPO)", + "score": 0.4, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0000023", "subject_label": null, "subject_source": null, - "object_id": "HP:0002020", + "object_id": "HP:0012450", "object_label": null, "object_source": null, "ancestor_id": "HP:0025031", @@ -1555,10 +1555,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.826350815132431, - "jaccard_similarity": 0.36363636363636365, + "jaccard_similarity": 0.4, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.686993109338994 + "phenodigm_score": 1.769333299876813 }, "score_metric": "jaccard_similarity" }, @@ -1677,16 +1677,16 @@ "HP:0001634": { "match_source": "HP:0001634", "match_source_label": "Mitral valve prolapse (HPO)", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm (HPO)", - "score": 0.4166666666666667, + "match_target": "HP:0004944", + "match_target_label": "Dilatation of the cerebral artery (HPO)", + "score": 0.3333333333333333, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0001634", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "HP:0004944", "object_label": null, "object_source": null, "ancestor_id": "HP:0030680", @@ -1695,26 +1695,26 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 8.449787463668223, - "jaccard_similarity": 0.4166666666666667, + "jaccard_similarity": 0.3333333333333333, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.8763647770432128 + "phenodigm_score": 1.6782716768219443 }, "score_metric": "jaccard_similarity" }, "HP:0001653": { "match_source": "HP:0001653", "match_source_label": "Mitral regurgitation (HPO)", - "match_target": "HP:0004944", - "match_target_label": "Dilatation of the cerebral artery (HPO)", - "score": 0.2413793103448276, + "match_target": "HP:0002616", + "match_target_label": "Aortic root aneurysm (HPO)", + "score": 0.30434782608695654, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0001653", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0002616", "object_label": null, "object_source": null, "ancestor_id": "HP:0001626", @@ -1723,10 +1723,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.652086110215225, - "jaccard_similarity": 0.2413793103448276, + "jaccard_similarity": 0.30434782608695654, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.3590641147432985 + "phenodigm_score": 1.5260720076962944 }, "score_metric": "jaccard_similarity" }, @@ -1761,16 +1761,16 @@ "HP:0001704": { "match_source": "HP:0001704", "match_source_label": "Tricuspid valve prolapse (HPO)", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm (HPO)", - "score": 0.4166666666666667, + "match_target": "HP:0004944", + "match_target_label": "Dilatation of the cerebral artery (HPO)", + "score": 0.3333333333333333, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0001704", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "HP:0004944", "object_label": null, "object_source": null, "ancestor_id": "HP:0030680", @@ -1779,10 +1779,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 8.449787463668223, - "jaccard_similarity": 0.4166666666666667, + "jaccard_similarity": 0.3333333333333333, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.8763647770432128 + "phenodigm_score": 1.6782716768219443 }, "score_metric": "jaccard_similarity" }, @@ -1817,16 +1817,16 @@ "HP:0002108": { "match_source": "HP:0002108", "match_source_label": "Spontaneous pneumothorax (HPO)", - "match_target": "HP:0004944", - "match_target_label": "Dilatation of the cerebral artery (HPO)", - "score": 0.2807017543859649, + "match_target": "HP:0001533", + "match_target_label": "Slender build (HPO)", + "score": 0.32, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0002108", "subject_label": null, "subject_source": null, - "object_id": "HP:0004944", + "object_id": "HP:0001533", "object_label": null, "object_source": null, "ancestor_id": "HP:0000118", @@ -1835,10 +1835,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 4.118848568918744, - "jaccard_similarity": 0.2807017543859649, + "jaccard_similarity": 0.32, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.0752525374746216 + "phenodigm_score": 1.1480555483311763 }, "score_metric": "jaccard_similarity" }, diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json index 4ef2c7c31..2767abf23 100644 --- a/frontend/fixtures/phenotype-explorer-search.json +++ b/frontend/fixtures/phenotype-explorer-search.json @@ -240,13 +240,13 @@ "score": 7.234842285670967, "similarity": { "subject_termset": { - "ZP:0018568": { - "id": "ZP:0018568", - "label": "primitive hemopoiesis absent, abnormal (ZPO)" - }, "ZP:0018569": { "id": "ZP:0018569", "label": "myeloid cell development absent, abnormal (ZPO)" + }, + "ZP:0018568": { + "id": "ZP:0018568", + "label": "primitive hemopoiesis absent, abnormal (ZPO)" } }, "object_termset": { @@ -343,8 +343,8 @@ "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue (HPO)", - "match_target": "ZP:0018568", - "match_target_label": "primitive hemopoiesis absent, abnormal (ZPO)", + "match_target": "ZP:0018569", + "match_target_label": "myeloid cell development absent, abnormal (ZPO)", "score": 1.6836208034928104, "match_subsumer": null, "match_subsumer_label": null, @@ -352,7 +352,7 @@ "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018568", + "object_id": "ZP:0018569", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -361,10 +361,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.6836208034928104, - "jaccard_similarity": 0.4444444444444444, + "jaccard_similarity": 0.47058823529411764, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8650294287846346 + "phenodigm_score": 0.8901079388591847 }, "score_metric": "ancestor_information_content" } @@ -653,13 +653,13 @@ "score": 7.234842285670967, "similarity": { "subject_termset": { - "ZP:0018569": { - "id": "ZP:0018569", - "label": "myeloid cell development absent, abnormal (ZPO)" - }, "ZP:0018568": { "id": "ZP:0018568", "label": "primitive hemopoiesis absent, abnormal (ZPO)" + }, + "ZP:0018569": { + "id": "ZP:0018569", + "label": "myeloid cell development absent, abnormal (ZPO)" } }, "object_termset": { @@ -728,8 +728,8 @@ "HP:0002104": { "match_source": "HP:0002104", "match_source_label": "Apnea (HPO)", - "match_target": "ZP:0018568", - "match_target_label": "primitive hemopoiesis absent, abnormal (ZPO)", + "match_target": "ZP:0018569", + "match_target_label": "myeloid cell development absent, abnormal (ZPO)", "score": 9.08524944639702, "match_subsumer": null, "match_subsumer_label": null, @@ -737,7 +737,7 @@ "subject_id": "HP:0002104", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018568", + "object_id": "ZP:0018569", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0034024", @@ -746,10 +746,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 9.08524944639702, - "jaccard_similarity": 0.3333333333333333, + "jaccard_similarity": 0.34615384615384615, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.7402346054863809 + "phenodigm_score": 1.773384910034319 }, "score_metric": "ancestor_information_content" }, @@ -873,8 +873,8 @@ } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } }, "subject_best_matches": { "ZP:0018568": { @@ -938,8 +938,8 @@ "HP:0002104": { "match_source": "HP:0002104", "match_source_label": "Apnea (HPO)", - "match_target": "ZP:0018568", - "match_target_label": "primitive hemopoiesis absent, abnormal (ZPO)", + "match_target": "ZP:0018569", + "match_target_label": "myeloid cell development absent, abnormal (ZPO)", "score": 9.08524944639702, "match_subsumer": null, "match_subsumer_label": null, @@ -947,7 +947,7 @@ "subject_id": "HP:0002104", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018568", + "object_id": "ZP:0018569", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0034024", @@ -956,18 +956,18 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 9.08524944639702, - "jaccard_similarity": 0.3333333333333333, + "jaccard_similarity": 0.34615384615384615, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.7402346054863809 + "phenodigm_score": 1.773384910034319 }, "score_metric": "ancestor_information_content" }, "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue (HPO)", - "match_target": "ZP:0018568", - "match_target_label": "primitive hemopoiesis absent, abnormal (ZPO)", + "match_target": "ZP:0018569", + "match_target_label": "myeloid cell development absent, abnormal (ZPO)", "score": 1.6836208034928104, "match_subsumer": null, "match_subsumer_label": null, @@ -975,7 +975,7 @@ "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018568", + "object_id": "ZP:0018569", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -984,10 +984,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.6836208034928104, - "jaccard_similarity": 0.4444444444444444, + "jaccard_similarity": 0.47058823529411764, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8650294287846346 + "phenodigm_score": 0.8901079388591847 }, "score_metric": "ancestor_information_content" } @@ -1068,18 +1068,18 @@ "score": 5.412148503540145, "similarity": { "subject_termset": { - "ZP:0100294": { - "id": "ZP:0100294", - "label": "visual perception absent, abnormal (ZPO)" - }, "ZP:0000945": { "id": "ZP:0000945", "label": "pigment cell quality, abnormal (ZPO)" + }, + "ZP:0100294": { + "id": "ZP:0100294", + "label": "visual perception absent, abnormal (ZPO)" } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } }, "subject_best_matches": { "ZP:0000945": { @@ -1497,8 +1497,8 @@ } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } }, "subject_best_matches": { "ZP:0021445": { @@ -1676,8 +1676,8 @@ } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } }, "subject_best_matches": { "ZP:0003210": { @@ -1849,8 +1849,8 @@ } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } }, "subject_best_matches": { "ZP:0001432": { diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json index 36464a8e7..ca03a5bcb 100644 --- a/frontend/fixtures/search.json +++ b/frontend/fixtures/search.json @@ -3,38 +3,6 @@ "offset": 0, "total": 101, "items": [ - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": [ - "MSH:D005198", - "SNOMEDCT_US:236468006", - "SNOMEDCT_US:44673006", - "UMLS:C0341703" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "De toni-fanconi-debre syndrome", - "Renal tubular fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "HP", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, { "id": "MONDO:0019391", "category": "biolink:Disease", @@ -2193,174 +2161,6 @@ "highlight": null, "score": null }, - { - "id": "Reactome:R-CEL-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:6239", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-MMU-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10090", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-RNO-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:10116", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-DDI-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:44689", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-GGA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9031", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-SSC-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9823", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-XTR-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:8364", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, { "id": "MONDO:0009217", "category": "biolink:Disease", @@ -2722,30 +2522,6 @@ "highlight": null, "score": null }, - { - "id": "Reactome:R-CFA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9615", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, { "id": "MONDO:0007600", "category": "biolink:Disease", @@ -2775,127 +2551,9384 @@ "score": null }, { - "id": "Reactome:R-BTA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9913", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-DRE-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7955", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-DME-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:7227", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "Reactome:R-HSA-6783310", - "category": "biolink:Pathway", - "name": "Fanconi Anemia Pathway", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": "reactome_pathway_nodes", - "in_taxon": "NCBITaxon:9606", - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": "Reactome", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "GO:0043240", - "category": "biolink:MacromolecularComplex", - "name": "Fanconi anaemia nuclear complex", + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", "full_name": null, "deprecated": null, - "description": "A protein complex composed of the Fanconi anaemia (FA) proteins including A, C, E, G and F (FANCA-F). Functions in the activation of the downstream protein FANCD2 by monoubiquitylation, and is essential for protection against chromosome breakage.", - "xref": [], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FA complex", - "FA core complex", - "FA nuclear complex", - "Fanconi anaemia complex" + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome" ], "uri": null, "iri": null, - "namespace": "GO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150" + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", + "Short stature", + "Bone pain", + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria" + ], + "has_phenotype_closure": [ + "UPHENO:0068134", + "UPHENO:0068102", + "UPHENO:0051678", + "HP:0011280", + "UPHENO:0046344", + "HP:0000083", + "HP:0025142", + "UPHENO:0049874", + "HP:0000002", + "HP:0001507", + "UPHENO:0020584", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0081423", + "HP:0004364", + "UPHENO:0068533", + "UPHENO:0081424", + "UPHENO:0082534", + "UPHENO:0051648", + "UPHENO:0068384", + "UPHENO:0081550", + "UPHENO:0051680", + "UPHENO:0068068", + "HP:0012337", + "UPHENO:0051630", + "HP:0033331", + "HP:0003165", + "UPHENO:0051936", + "UPHENO:0076285", + "UPHENO:0051612", + "HP:0001948", + "UPHENO:0068472", + "UPHENO:0086128", + "UPHENO:0051741", + "UPHENO:0068477", + "HP:0003076", + "UPHENO:0080659", + "UPHENO:0080658", + "UPHENO:0068058", + "HP:0002653", + "UPHENO:0051635", + "UPHENO:0051712", + "UPHENO:0051640", + "UPHENO:0077826", + "UPHENO:0068247", + "UPHENO:0081547", + "UPHENO:0068064", + "UPHENO:0080638", + "UPHENO:0078589", + "UPHENO:0050116", + "UPHENO:0051628", + "UPHENO:0078628", + "HP:0002157", + "HP:0100530", + "UPHENO:0076287", + "UPHENO:0068047", + "HP:0000818", + "HP:0000117", + "UPHENO:0051709", + "UPHENO:0051804", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0034253", + "UPHENO:0051960", + "UPHENO:0068144", + "UPHENO:0068174", + "HP:0012591", + "HP:0001939", + "UPHENO:0086132", + "HP:0010876", + "HP:0003077", + "HP:0003110", + "BFO:0000002", + "UPHENO:0002832", + "HP:0033127", + "HP:0012599", + "HP:0002150", + "HP:0011842", + "UPHENO:0002332", + "HP:0000114", + "UPHENO:0068104", + "UPHENO:0002642", + "UPHENO:0001001", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0000079", + "HP:0004322", + "UPHENO:0052038", + "UPHENO:0068054", + "UPHENO:0051186", + "UPHENO:0082875", + "HP:0003111", + "UPHENO:0080643", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0076289", + "HP:0003330", + "UPHENO:0068971", + "UPHENO:0050080", + "UPHENO:0082536", + "UPHENO:0051864", + "HP:0032245", + "UPHENO:0002411", + "UPHENO:0046362", + "UPHENO:0049723", + "HP:0000938", + "BFO:0000001", + "HP:0000924", + "UPHENO:0052116", + "UPHENO:0051668", + "HP:0000118", + "HP:0004360", + "UPHENO:0034391", + "UPHENO:0081546", + "HP:0004348", + "HP:0000001", + "UPHENO:0080352", + "UPHENO:0068442", + "HP:0000093", + "UPHENO:0076692", + "HP:0003117", + "PATO:0000001", + "UPHENO:0002442", + "UPHENO:0068049", + "UPHENO:0049587", + "UPHENO:0001002", + "UPHENO:0051763", + "UPHENO:0082539", + "UPHENO:0082538", + "HP:0032369", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0051686", + "UPHENO:0001005", + "HP:0100529", + "UPHENO:0076286", + "UPHENO:0004459", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0082541", + "HP:0100511", + "HP:0031415", + "UPHENO:0051900", + "UPHENO:0003116", + "UPHENO:0068538", + "UPHENO:0051847", + "HP:0012211", + "UPHENO:0049618", + "UPHENO:0081548", + "UPHENO:0076703", + "HP:0430071", + "BFO:0000020", + "UPHENO:0001003", + "UPHENO:0082540", + "UPHENO:0046286", + "UPHENO:0049628", + "UPHENO:0002536", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0051670", + "HP:0011277", + "UPHENO:0084653", + "UPHENO:0048763", + "HP:0001992", + "HP:0002148", + "UPHENO:0069254", + "UPHENO:0075902", + "UPHENO:0066739", + "UPHENO:0034217", + "HP:0000077", + "HP:0020129", + "UPHENO:0002803", + "HP:0010935", + "HP:0000124", + "UPHENO:0000541", + "UPHENO:0066943", + "HP:0011843", + "UPHENO:0082943", + "UPHENO:0068313", + "HP:0031980", + "HP:0002757", + "HP:0012531", + "UPHENO:0051739", + "HP:0002659", + "HP:0100508", + "UPHENO:0081440", + "HP:0032943", + "HP:0002748", + "UPHENO:0000543", + "UPHENO:0068491", + "HP:0012213", + "UPHENO:0075195", + "HP:0033354", + "UPHENO:0068495", + "UPHENO:0024906", + "UPHENO:0079536", + "HP:0012072", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0040156", + "UPHENO:0046284", + "UPHENO:0068110", + "UPHENO:0046348", + "UPHENO:0066927", + "UPHENO:0081544", + "UPHENO:0068089", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0015280", + "UPHENO:0082542", + "UPHENO:0012541", + "HP:0002152", + "HP:0002909", + "UPHENO:0077821", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0068169", + "UPHENO:0078554", + "UPHENO:0079534", + "UPHENO:0068565", + "UPHENO:0076293", + "UPHENO:0049904", + "UPHENO:0046291", + "UPHENO:0068251", + "HP:0001510", + "UPHENO:0049873", + "UPHENO:0051801", + "UPHENO:0046281", + "HP:0012212", + "UPHENO:0048711", + "HP:0003119" + ], + "has_phenotype_closure_label": [ + "Hypercalciuria", + "non-functional kidney", + "non-functional anatomical entity", + "Pain", + "Constitutional symptom", + "delayed growth", + "abnormal growth", + "delayed biological_process", + "abnormal anatomical entity morphology in the independent continuant", + "Growth delay", + "Growth abnormality", + "Short stature", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "Abnormality of body height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of anatomical entity", + "increased level of chemical entity in blood serum", + "Alkalosis", + "Alkalemia", + "increased level of parathyroid hormone in independent continuant", + "Abnormality of acid-base homeostasis", + "Acute phase response", + "Azotemia", + "abnormal blood serum chemical entity level", + "abnormal acid bodily fluid level", + "Abnormal homeostasis", + "abnormal role blood serum level", + "increased level of parathyroid hormone in blood", + "Abnormal circulating protein concentration", + "abnormal blood nitrogen molecular entity level", + "abnormal blood parathyroid hormone level", + "Hyperproteinemia", + "increased blood serum role level", + "abnormal independent continuant parathyroid hormone level", + "increased bodily fluid base level", + "Elevated circulating parathyroid hormone level", + "increased level of glucose in urine", + "abnormal independent continuant protein polypeptide chain level", + "abnormal vitamin metabolic process", + "abnormal independent continuant glucose level", + "increased level of lipid", + "abnormal independent continuant lipid level", + "abnormal hormone blood level", + "Glycosuria", + "abnormal lipid metabolic process", + "abnormal lipid level", + "Abnormal circulating metabolite concentration", + "increased level of carboxylic acid in urine", + "abnormal chemical homeostasis", + "abnormal independent continuant monoatomic ion level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal role urine level", + "Hypophosphatemia", + "abnormal independent continuant protein level", + "abnormal genitourinary system", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "Renal phosphate wasting", + "Abnormality of the urinary system physiology", + "increased level of protein polypeptide chain in urine", + "increased blood role level", + "abnormal blood phosphate level", + "increased level of parathyroid hormone in blood serum", + "abnormal small molecule metabolic process", + "Abnormal bone ossification", + "abnormal multicellular organism chemical entity level", + "Osteomalacia", + "increased level of protein", + "abnormal anatomical entity morphology", + "decreased height of the multicellular organism", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "increased level of organic acid in independent continuant", + "abnormal primary metabolic process", + "abnormal urine phosphate level", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "abnormal hematopoietic system", + "increased level of protein in independent continuant", + "increased level of nitrogen molecular entity in blood", + "abnormal amino acid level", + "Abnormal urine protein level", + "abnormal homeostatic process", + "abnormal bone element mass density", + "abnormal blood protein polypeptide chain level", + "abnormal urine chemical entity level", + "Increased susceptibility to fractures", + "continuant", + "quality", + "Abnormal circulating hormone concentration", + "Reduced bone mineral density", + "abnormal independent continuant calcium atom level", + "Abnormal urine phosphate concentration", + "abnormal skeletal system", + "anatomical entity dysfunction in independent continuant", + "increased level of chemical entity", + "abnormal protein level", + "increased level of chemical entity in blood plasma", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal role bodily fluid level", + "decreased level of phosphate in blood", + "phenotype", + "increased independent continuant base level", + "Abnormality of bone mineral density", + "Abnormality of the urinary system", + "increased level of protein in blood", + "Phenotypic abnormality", + "increased level of calcium atom in independent continuant", + "Bone pain", + "Abnormality of urine homeostasis", + "abnormal phosphate level", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "abnormality of renal system physiology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "abnormal hormone independent continuant level", + "increased level of lipid in independent continuant", + "abnormal phenotype by ontology source", + "abnormally decreased functionality of the nephron tubule", + "abnormality of anatomical entity physiology", + "decreased size of the multicellular organism", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "Abnormality of urine calcium concentration", + "abnormal anatomical entity mass density", + "Hyperlipidemia", + "abnormal vitamin D level", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "decreased level of chemical entity", + "Abnormality of blood and blood-forming tissues", + "Abnormal blood phosphate concentration", + "Abnormal glomerular filtration rate", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "increased level of calcium atom in urine", + "abnormality of kidney physiology", + "abnormal kidney", + "Proximal tubulopathy", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "entity", + "abnormal blood lipid level", + "Abnormal renal physiology", + "abnormally decreased functionality of the anatomical entity", + "increased level of amino acid in independent continuant", + "abnormal phosphate ion homeostasis", + "increased level of vitamin D", + "Proteinuria", + "abnormal upper urinary tract", + "increased blood serum base level", + "Abnormality of the kidney", + "Renal tubular dysfunction", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal musculoskeletal physiology", + "abnormality of musculoskeletal system physiology", + "All", + "Recurrent fractures", + "Rickets", + "Renal insufficiency", + "High serum calcitriol", + "abnormal role blood level", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "Osteopenia", + "Abnormality of vitamin D metabolism", + "Aminoaciduria", + "increased level of lipid in blood", + "Abnormal circulating organic compound concentration", + "abnormal vitamin D metabolic process", + "increased independent continuant hormone level", + "abnormal urine amino acid level", + "specifically dependent continuant", + "abnormal metabolite independent continuant level", + "increased level of carboxylic acid in independent continuant", + "increased level of calcitriol in independent continuant", + "increased independent continuant role level", + "abnormal endocrine system", + "abnormal independent continuant carboxylic acid level", + "abnormal blood plasma chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "increased level of organic molecular entity in independent continuant", + "abnormal urine calcium atom level", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "Decreased glomerular filtration rate", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "increased level of organic acid in urine", + "increased level of glucose in independent continuant", + "Abnormal urine carboxylic acid level", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "abnormal independent continuant phosphate level", + "Elevated urinary carboxylic acid", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormal calcium atom level", + "Generalized aminoaciduria", + "increased independent continuant acid level", + "Aciduria", + "increased level of calcitriol in blood", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "Abnormal metabolism", + "abnormal metabolic process", + "Abnormal circulating lipid concentration", + "Abnormality of vitamin metabolism", + "Abnormality of the endocrine system" + ], + "has_phenotype_count": 17, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0001510", + "HP:0003259", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126" + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Growth delay", + "Elevated circulating creatinine concentration", + "Hyperphosphaturia", + "Rickets", + "Bowing of the legs", + "Glycosuria", + "Renal insufficiency", + "Short stature", + "Aminoaciduria", + "Low-molecular-weight proteinuria" + ], + "has_phenotype_closure": [ + "UPHENO:0051801", + "UPHENO:0068565", + "UPHENO:0068169", + "HP:0032943", + "HP:0001992", + "UPHENO:0068144", + "UPHENO:0046286", + "UPHENO:0051670", + "HP:0040156", + "HP:0031980", + "HP:0012072", + "UPHENO:0068495", + "UPHENO:0012541", + "HP:0000002", + "UPHENO:0068971", + "UPHENO:0075159", + "UPHENO:0081424", + "HP:0020129", + "UPHENO:0002803", + "HP:0012211", + "UPHENO:0069254", + "UPHENO:0075902", + "UPHENO:0086128", + "HP:0010935", + "HP:0000077", + "HP:0000083", + "HP:0003076", + "UPHENO:0080659", + "UPHENO:0080658", + "UPHENO:0068058", + "UPHENO:0075195", + "HP:0033354", + "UPHENO:0051635", + "UPHENO:0051640", + "UPHENO:0079873", + "UPHENO:0076727", + "UPHENO:0081423", + "UPHENO:0082449", + "UPHENO:0041226", + "UPHENO:0020041", + "UPHENO:0075952", + "UPHENO:0068064", + "HP:0002157", + "HP:0012100", + "HP:0002748", + "UPHENO:0077821", + "HP:0011277", + "UPHENO:0086956", + "UPHENO:0051630", + "UPHENO:0076285", + "UPHENO:0068251", + "UPHENO:0082543", + "UPHENO:0002411", + "UPHENO:0082536", + "UPHENO:0068091", + "HP:0032180", + "UPHENO:0080351", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0004459", + "UPHENO:0076286", + "UPHENO:0079534", + "UPHENO:0051894", + "HP:0003259", + "UPHENO:0051763", + "UPHENO:0003070", + "UPHENO:0068190", + "UPHENO:0041258", + "UPHENO:0051847", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0000543", + "UPHENO:0068049", + "UPHENO:0049587", + "UPHENO:0081547", + "UPHENO:0068089", + "HP:0001942", + "HP:0001507", + "UPHENO:0031193", + "HP:0000118", + "UPHENO:0001001", + "UPHENO:0082538", + "UPHENO:0082539", + "BFO:0000001", + "UPHENO:0000541", + "UPHENO:0052116", + "UPHENO:0051668", + "HP:0000924", + "UPHENO:0002536", + "HP:0012337", + "UPHENO:0078550", + "HP:0004364", + "UPHENO:0076289", + "UPHENO:0051753", + "UPHENO:0068346", + "HP:0003126", + "HP:0001871", + "UPHENO:0075696", + "BFO:0000002", + "HP:0003110", + "UPHENO:0001005", + "UPHENO:0051686", + "UPHENO:0079536", + "BFO:0000020", + "HP:0430071", + "UPHENO:0001002", + "HP:0000940", + "UPHENO:0081546", + "HP:0004360", + "HP:0001941", + "UPHENO:0001003", + "HP:0000001", + "HP:0004348", + "UPHENO:0051900", + "UPHENO:0041573", + "UPHENO:0081550", + "UPHENO:0051804", + "HP:0001939", + "UPHENO:0077858", + "UPHENO:0068247", + "UPHENO:0077826", + "UPHENO:0002332", + "HP:0012599", + "UPHENO:0041610", + "HP:0033127", + "HP:0011842", + "UPHENO:0046284", + "UPHENO:0068110", + "UPHENO:0086628", + "HP:0004322", + "UPHENO:0068054", + "UPHENO:0052038", + "UPHENO:0082875", + "UPHENO:0082542", + "UPHENO:0015280", + "UPHENO:0002642", + "PATO:0000001", + "UPHENO:0002442", + "UPHENO:0081544", + "UPHENO:0046348", + "HP:0000079", + "UPHENO:0086132", + "UPHENO:0068352", + "HP:0040068", + "HP:0011314", + "HP:0003330", + "HP:0000093", + "UPHENO:0080352", + "UPHENO:0068442", + "UPHENO:0076692", + "UPHENO:0068040", + "UPHENO:0082835", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0081548", + "UPHENO:0076703", + "UPHENO:0084653", + "UPHENO:0051930", + "HP:0003355", + "UPHENO:0002896", + "UPHENO:0031310", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0048707", + "HP:0011849", + "UPHENO:0041536", + "UPHENO:0078554", + "UPHENO:0076740", + "UPHENO:0082467", + "UPHENO:0002830", + "HP:0011844", + "UPHENO:0068472", + "UPHENO:0041098", + "HP:0002814", + "UPHENO:0080300", + "HP:0006487", + "HP:0001510", + "HP:0002979", + "UPHENO:0051739", + "UPHENO:0084767", + "UPHENO:0086635", + "HP:0002981", + "UPHENO:0086780", + "UPHENO:0002832", + "UPHENO:0084763", + "UPHENO:0068538", + "HP:0040064", + "HP:0003109", + "HP:0012591", + "UPHENO:0082129" + ], + "has_phenotype_closure_label": [ + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "Aciduria", + "increased level of amino acid in independent continuant", + "increased level of carboxylic acid in urine", + "increased level of organic acid in urine", + "increased independent continuant base level", + "Organic aciduria", + "abnormal independent continuant carboxylic acid level", + "Aminoaciduria", + "increased level of organic acid in independent continuant", + "Short stature", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of anatomical entity", + "Abnormality of the kidney", + "non-functional anatomical entity", + "Proteinuria", + "abnormal upper urinary tract", + "abnormal kidney", + "abnormal independent continuant glucose level", + "abnormal role urine level", + "increased level of glucose in urine", + "Abnormal urine carboxylic acid level", + "increased level of glucose in independent continuant", + "abnormal limb bone morphology", + "shape long bone", + "increased level of carboxylic acid in independent continuant", + "Abnormal diaphysis morphology", + "Abnormal renal physiology", + "curved anatomical entity", + "Abnormal circulating metabolite concentration", + "increased level of protein polypeptide chain in urine", + "increased blood role level", + "Growth abnormality", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "increased blood serum role level", + "All", + "phenotype by ontology source", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic system", + "increased level of protein polypeptide chain in independent continuant", + "abnormal urine glucose level", + "entity", + "abnormal role blood serum level", + "abnormal bone element mass density", + "abnormal amino acid level", + "increased level of nitrogen molecular entity in blood", + "abnormal limb bone", + "Abnormal bone ossification", + "abnormal phenotype by ontology source", + "Growth delay", + "increased independent continuant role level", + "abnormal biological_process", + "abnormal chemical entity level", + "Low-molecular-weight proteinuria", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormal multicellular organism chemical entity level", + "abnormal shape of continuant", + "abnormal independent continuant creatinine level", + "Elevated circulating creatinine concentration", + "increased level of chemical entity", + "Abnormal circulating creatinine concentration", + "Abnormal urine metabolite level", + "increased level of creatinine in blood", + "increased bodily fluid acid level", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "Abnormality of acid-base homeostasis", + "Glycosuria", + "Abnormality of the calf", + "delayed growth", + "Azotemia", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "increased level of organic molecular entity in independent continuant", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "abnormal acid bodily fluid level", + "Abnormality of the urinary system physiology", + "Acidosis", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of chemical entity in blood plasma", + "abnormal hindlimb morphology", + "abnormal genitourinary system", + "shape anatomical entity", + "Abnormality of urine homeostasis", + "increased level of creatinine in independent continuant", + "delayed biological_process", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "continuant", + "phenotype", + "Reduced bone mineral density", + "abnormal blood creatinine level", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "Decreased anatomical entity mass density", + "abnormal metabolite independent continuant level", + "specifically dependent continuant", + "abnormal role bodily fluid level", + "abnormal blood plasma chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "Metabolic acidosis", + "increased independent continuant acid level", + "Renal insufficiency", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Abnormal homeostasis", + "Bowing of the legs", + "increased level of creatinine in blood serum", + "abnormal anatomical entity morphology", + "abnormal diaphysis morphology", + "increased level of chemical entity in blood serum", + "abnormal urine chemical entity level", + "abnormality of anatomical entity physiology", + "decreased size of the multicellular organism", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "Abnormal urine phosphate concentration", + "quality", + "abnormal anatomical entity morphology in the pelvic complex", + "increased level of amino acid in urine", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "abnormal phosphate level", + "abnormal long bone morphology", + "Elevated urinary carboxylic acid", + "abnormal leg", + "abnormal independent continuant phosphate level", + "increased level of phosphate in urine", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal limb", + "increased level of chemical entity in blood", + "Abnormal urinary electrolyte concentration", + "abnormality of renal system physiology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "abnormal urine phosphate level", + "Abnormality of the urinary system", + "abnormal anatomical entity mass density", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "decreased height of the multicellular organism", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "abnormal hindlimb zeugopod, curved", + "Rickets", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "curvature anatomical entity", + "curved hindlimb zeugopod", + "abnormal blood serum chemical entity level", + "curved long bone", + "non-functional kidney", + "abnormal diaphysis morphology in the independent continuant", + "Abnormality of the upper urinary tract", + "shape anatomical entity in independent continuant", + "abnormal limb morphology", + "abnormal growth", + "abnormal hindlimb zeugopod morphology", + "abnormality of kidney physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal renal system", + "Abnormal long bone morphology", + "Abnormality of body height", + "Abnormal appendicular skeleton morphology", + "curvature anatomical entity in independent continuant", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal independent continuant amino acid level", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "abnormal hindlimb zeugopod", + "Abnormality of limb bone", + "curved anatomical entity in independent continuant", + "Abnormality of the lower limb", + "abnormal appendicular skeleton morphology" + ], + "has_phenotype_count": 11, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "full_name": null, + "deprecated": null, + "description": null, + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", + "HP:0004322", + "HP:0003126", + "HP:0000083", + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049" + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", + "Short stature", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis" + ], + "has_phenotype_closure": [ + "UPHENO:0078555", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068079", + "UPHENO:0084542", + "UPHENO:0051619", + "UPHENO:0051714", + "UPHENO:0051608", + "UPHENO:0051688", + "UPHENO:0051659", + "HP:0001995", + "HP:0004918", + "HP:0025142", + "HP:0012531", + "HP:0011279", + "HP:0002659", + "HP:0003081", + "UPHENO:0051849", + "UPHENO:0068350", + "UPHENO:0078640", + "UPHENO:0050484", + "UPHENO:0086172", + "UPHENO:0084537", + "HP:0010996", + "UPHENO:0049723", + "HP:0004359", + "HP:0010966", + "HP:0012103", + "HP:0025354", + "HP:0003119", + "UPHENO:0006889", + "HP:0011843", + "HP:0003234", + "UPHENO:0082544", + "HP:0004354", + "UPHENO:0034319", + "UPHENO:0084472", + "UPHENO:0068442", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "HP:0004369", + "HP:0011038", + "UPHENO:0051280", + "UPHENO:0051898", + "HP:0011017", + "UPHENO:0034199", + "UPHENO:0051704", + "HP:0011280", + "HP:0002653", + "UPHENO:0076703", + "UPHENO:0049618", + "HP:0011042", + "HP:0032180", + "UPHENO:0068091", + "UPHENO:0051887", + "UPHENO:0034438", + "HP:0001943", + "UPHENO:0051958", + "UPHENO:0068352", + "UPHENO:0081777", + "UPHENO:0066927", + "UPHENO:0081544", + "HP:0006530", + "HP:0004352", + "UPHENO:0079536", + "UPHENO:0034217", + "HP:0010929", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0069254", + "HP:0001871", + "UPHENO:0051186", + "HP:0004322", + "HP:0004323", + "HP:0003149", + "UPHENO:0049628", + "UPHENO:0004459", + "UPHENO:0002411", + "UPHENO:0075666", + "UPHENO:0050080", + "UPHENO:0068971", + "UPHENO:0051960", + "UPHENO:0046356", + "UPHENO:0076289", + "UPHENO:0049709", + "UPHENO:0000541", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0034253", + "HP:0001324", + "UPHENO:0082543", + "UPHENO:0068134", + "UPHENO:0067999", + "HP:0000124", + "HP:0010935", + "UPHENO:0078646", + "UPHENO:0034248", + "UPHENO:0068094", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0046283", + "HP:0011277", + "UPHENO:0068292", + "UPHENO:0084654", + "UPHENO:0034351", + "HP:0003111", + "HP:0000079", + "HP:0004379", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0079822", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "HP:0012211", + "UPHENO:0051847", + "HP:0001942", + "HP:0001507", + "UPHENO:0076294", + "UPHENO:0002964", + "UPHENO:0084653", + "UPHENO:0002320", + "HP:0430071", + "UPHENO:0082835", + "UPHENO:0068040", + "HP:0100529", + "UPHENO:0001005", + "UPHENO:0068036", + "UPHENO:0050113", + "UPHENO:0051686", + "UPHENO:0001002", + "UPHENO:0046284", + "UPHENO:0068110", + "HP:0001947", + "UPHENO:0051645", + "UPHENO:0020748", + "UPHENO:0002442", + "UPHENO:0001003", + "UPHENO:0054261", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0080352", + "HP:0000093", + "HP:0000001", + "HP:0004348", + "UPHENO:0082834", + "HP:0003774", + "UPHENO:0080659", + "UPHENO:0051668", + "UPHENO:0052116", + "HP:0000924", + "HP:0003330", + "HP:0010930", + "UPHENO:0046348", + "HP:0020129", + "HP:0000077", + "UPHENO:0068089", + "UPHENO:0051937", + "HP:0002749", + "UPHENO:0001001", + "UPHENO:0081440", + "UPHENO:0086908", + "HP:0012599", + "UPHENO:0075696", + "HP:0011842", + "HP:0002150", + "HP:0033127", + "BFO:0000001", + "UPHENO:0082539", + "UPHENO:0082538", + "UPHENO:0050433", + "UPHENO:0051763", + "HP:0003011", + "HP:0012337", + "UPHENO:0049904", + "UPHENO:0081550", + "HP:0012591", + "HP:0001939", + "UPHENO:0068064", + "HP:0002748", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0081547", + "UPHENO:0068511", + "BFO:0000002", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0012072", + "HP:0003110", + "UPHENO:0034391", + "UPHENO:0010763", + "HP:0032943", + "UPHENO:0051191", + "HP:0011036", + "HP:0010967", + "HP:0034359", + "UPHENO:0054299", + "UPHENO:0051635", + "HP:0002157", + "HP:0000002", + "HP:0033354", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0068058", + "UPHENO:0080658", + "UPHENO:0002332", + "UPHENO:0078554", + "UPHENO:0082943", + "HP:0003646", + "HP:0031980", + "UPHENO:0046362", + "HP:0002900", + "UPHENO:0080556", + "HP:0003155", + "UPHENO:0068495", + "HP:0040156", + "UPHENO:0052008", + "UPHENO:0076299", + "UPHENO:0051670", + "UPHENO:0046286", + "BFO:0000020", + "HP:0011032", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0019970", + "HP:0003355", + "UPHENO:0051930", + "HP:0012252", + "UPHENO:0066943", + "UPHENO:0051709", + "HP:0001992", + "HP:0002086", + "HP:0000119", + "UPHENO:0082542", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0078592", + "UPHENO:0077821", + "UPHENO:0068169", + "HP:0002909", + "UPHENO:0002642", + "UPHENO:0081423", + "UPHENO:0084541", + "UPHENO:0081424", + "UPHENO:0075159", + "HP:0012598", + "UPHENO:0087433", + "UPHENO:0076286", + "UPHENO:0080351", + "UPHENO:0020584", + "UPHENO:0050619", + "HP:0003109", + "HP:0001510", + "UPHENO:0004536", + "UPHENO:0049873", + "UPHENO:0049874", + "UPHENO:0068491", + "UPHENO:0012541", + "UPHENO:0068247", + "UPHENO:0068565", + "UPHENO:0051801", + "HP:0011804", + "UPHENO:0082794", + "HP:0000083", + "HP:0000117", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0004325", + "HP:0012622", + "UPHENO:0046344", + "UPHENO:0051678", + "HP:0003076", + "UPHENO:0000543", + "UPHENO:0068102", + "HP:0002206", + "PATO:0000001", + "HP:0002088", + "UPHENO:0051766", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0079824", + "HP:0011014", + "UPHENO:0080555", + "HP:0011015", + "HP:0004349", + "HP:0012603", + "UPHENO:0051866", + "UPHENO:0050116", + "HP:0012606", + "HP:0001941", + "HP:0003648", + "UPHENO:0051804", + "HP:0004912", + "HP:0000118", + "UPHENO:0050791", + "UPHENO:0051736", + "HP:0012379", + "UPHENO:0051588", + "UPHENO:0049748", + "UPHENO:0082875", + "UPHENO:0034276", + "UPHENO:0068251", + "UPHENO:0024906", + "UPHENO:0034149", + "UPHENO:0051712", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0066781", + "HP:0034684", + "HP:0010932", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0078616" + ], + "has_phenotype_closure_label": [ + "Proximal renal tubular acidosis", + "Generalized aminoaciduria", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "increased level of purines in independent continuant", + "increased level of uric acid in urine", + "Abnormality of urine bicarbonate level", + "abnormal hydrogencarbonate level", + "abnormal independent continuant hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Hyperchloremic metabolic acidosis", + "Pain", + "Constitutional symptom", + "abnormality of musculoskeletal system physiology", + "abnormal urine potassium atom level", + "Abnormal urine potassium concentration", + "Abnormal circulating fatty-acid concentration", + "abnormal amino acid derivative level", + "abnormal monocarboxylic acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "abnormal carnitine metabolic process", + "Impaired renal tubular reabsorption of phosphate", + "Hyperuricosuria", + "Abnormal circulating enzyme concentration or activity", + "Abnormal renal tubular resorption", + "Rickets", + "Abnormal blood monovalent inorganic cation concentration", + "increased level of organic acid in urine", + "Abnormal blood potassium concentration", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium atom level", + "decreased level of potassium atom in blood", + "abnormal phenotype by ontology source", + "abnormal urine phosphate level", + "Abnormal glucose homeostasis", + "increased level of chemical entity in blood", + "Hyperphosphaturia", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "increased level of phosphate in urine", + "abnormal potassium atom level", + "abnormal skeletal system", + "abnormal renal system process", + "Renal tubular dysfunction", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "decreased level of uric acid in blood", + "Abnormal renal physiology", + "Weight loss", + "abnormal kidney", + "increased level of calcium atom in urine", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "Abnormal blood phosphate concentration", + "Bicarbonate-wasting renal tubular acidosis", + "Abnormality of blood and blood-forming tissues", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Decreased anatomical entity mass", + "Bicarbonaturia", + "increased bodily fluid acid level", + "decreased level of phosphate in blood", + "Elevated urinary carboxylic acid", + "Abnormal circulating metabolite concentration", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal role blood level", + "Renal insufficiency", + "Dehydration", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "decreased level of amino-acid betaine", + "Abnormal urine metabolite level", + "abnormal carbohydrate homeostasis", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "Abnormal blood glucose concentration", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "abnormal homeostatic process", + "decreased muscle organ strength", + "decreased role blood level", + "abnormal blood phosphate level", + "increased level of protein polypeptide chain in urine", + "abnormal renal absorption", + "Abnormality of bone mineral density", + "Muscle weakness", + "decreased anatomical entity strength", + "Bone pain", + "Abnormality of the upper urinary tract", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "abnormal musculature", + "abnormal independent continuant monoatomic ion level", + "abnormal multicellular organism chemical entity level", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "abnormal monoatomic cation homeostasis", + "increased level of potassium atom in urine", + "decreased size of the anatomical entity", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "decreased level of potassium atom in independent continuant", + "Metabolic acidosis", + "increased level of monosaccharide in urine", + "abnormal anatomical entity", + "Abnormality of urine homeostasis", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "abnormal blood potassium(1+) level", + "Acidosis", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "Abnormal urine protein level", + "Abnormal circulating purine concentration", + "abnormal independent continuant glucose level", + "Reduced bone mineral density", + "abnormality of renal system physiology", + "quality", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "Abnormality of metabolism/homeostasis", + "anatomical entity fibrosis", + "abnormal urine chemical entity level", + "All", + "increased level of phosphate in independent continuant", + "abnormal lung morphology", + "abnormal bone element mass density", + "increased level of calcium atom in independent continuant", + "decreased role independent continuant level", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "increased level of monosaccharide in independent continuant", + "abnormal cell", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "increased level of amino acid in urine", + "decreased height of the multicellular organism", + "abnormality of muscle organ physiology", + "Growth delay", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "increased level of protein", + "Hypercalciuria", + "abnormal renal system", + "abnormal small molecule metabolic process", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "Low-molecular-weight proteinuria", + "Abnormality of acid-base homeostasis", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "Abnormal circulating nitrogen compound concentration", + "Abnormal blood cation concentration", + "abnormal upper urinary tract", + "abnormal skeletal system morphology", + "Proteinuria", + "Abnormal cellular physiology", + "increased level of chemical entity", + "abnormal purine nucleobase metabolic process", + "increased level of rac-lactic acid in urine", + "increased independent continuant acid level", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "abnormal independent continuant carbohydrate level", + "Decreased bone element mass density", + "decreased size of the multicellular organism", + "abnormal acid bodily fluid level", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "entity", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "abnormal genitourinary system", + "increased level of rac-lactic acid in independent continuant", + "increased level of glucose in independent continuant", + "increased level of organic molecular entity in independent continuant", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "increased level of glucose in urine", + "Abnormal bone ossification", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "abnormal respiratory system morphology", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal protein level", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "increased level of organic acid in independent continuant", + "Aminoaciduria", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "abnormal urine amino acid level", + "Abnormal circulating organic compound concentration", + "increased level of carboxylic acid in independent continuant", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "increased independent continuant base level", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", + "increased level of nitrogen molecular entity in blood", + "Abnormality of the musculature", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Decreased body weight", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "abnormal metabolite independent continuant level", + "decreased height of the anatomical entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "Abnormality of body height", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", + "abnormality of anatomical entity height", + "abnormally decreased functionality of the anatomical entity", + "Short stature", + "decreased anatomical entity mass", + "Growth abnormality", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", + "abnormal anatomical entity morphology in the independent continuant", + "Osteomalacia", + "delayed biological_process", + "abnormal growth", + "abnormal blood uric acid level", + "delayed growth", + "abnormal independent continuant protein polypeptide chain level", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "non-functional kidney", + "Renal phosphate wasting", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "abnormality of anatomical entity mass", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "abnormal calcium atom level", + "abnormal regulation of body fluid levels", + "Abnormal lung morphology", + "abnormal blood nitrogen molecular entity level", + "Abnormal respiratory system morphology", + "lung fibrosis", + "continuant", + "Abnormal circulating nucleobase concentration", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "abnormal urine sodium atom level", + "abnormal independent continuant sodium atom level", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "Abnormal urine sodium concentration", + "non-functional anatomical entity", + "abnormal sodium atom level", + "Hypophosphatemic rickets", + "decreased level of purines", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "Abnormality of fluid regulation", + "abnormal nucleobase metabolic process", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal primary metabolic process", + "Hypouricemia", + "abnormal metabolic process", + "abnormal blood monoatomic ion level", + "decreased level of uric acid in independent continuant", + "Azotemia", + "Hypokalemia", + "Decreased circulating purine concentration" + ], + "has_phenotype_count": 39, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "full_name": null, + "deprecated": null, + "description": null, + "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002857", + "HP:0002097", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0004918", + "HP:0045051", + "HP:0000093", + "HP:0003076", + "HP:0003355", + "HP:0005576", + "HP:0003774", + "HP:0000822", + "HP:0030078" + ], + "has_phenotype_label": [ + "Genu valgum", + "Emphysema", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Hyperchloremic metabolic acidosis", + "Decreased DLCO", + "Proteinuria", + "Glycosuria", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Stage 5 chronic kidney disease", + "Hypertension", + "Lung adenocarcinoma" + ], + "has_phenotype_closure": [ + "HP:0100526", + "HP:0030078", + "HP:0032263", + "UPHENO:0080362", + "UPHENO:0002678", + "HP:0030972", + "HP:0011025", + "HP:0001626", + "HP:0012211", + "UPHENO:0086132", + "UPHENO:0086128", + "HP:0012622", + "UPHENO:0002411", + "HP:0000083", + "HP:0005576", + "HP:0012210", + "UPHENO:0076714", + "UPHENO:0087427", + "HP:0012575", + "HP:0010935", + "HP:0000077", + "UPHENO:0068169", + "HP:0032943", + "UPHENO:0068144", + "UPHENO:0046286", + "UPHENO:0051670", + "HP:0031980", + "HP:0012072", + "UPHENO:0068495", + "UPHENO:0068491", + "HP:0003076", + "UPHENO:0080659", + "HP:0000091", + "UPHENO:0080658", + "UPHENO:0068058", + "UPHENO:0051635", + "UPHENO:0051640", + "HP:0011277", + "UPHENO:0002803", + "HP:0020129", + "UPHENO:0051801", + "HP:0000079", + "UPHENO:0077821", + "UPHENO:0068565", + "UPHENO:0002642", + "HP:0003110", + "UPHENO:0068247", + "HP:0033354", + "HP:0030878", + "HP:0045051", + "UPHENO:0002332", + "UPHENO:0002448", + "HP:0002795", + "UPHENO:0081547", + "UPHENO:0068064", + "HP:0001995", + "HP:0012337", + "BFO:0000020", + "UPHENO:0087462", + "UPHENO:0076756", + "UPHENO:0041536", + "UPHENO:0082449", + "UPHENO:0003070", + "UPHENO:0051763", + "UPHENO:0041226", + "UPHENO:0020041", + "BFO:0000002", + "UPHENO:0081548", + "UPHENO:0076703", + "HP:0030358", + "UPHENO:0001003", + "HP:0000822", + "HP:0011842", + "UPHENO:0081550", + "UPHENO:0041573", + "HP:0011314", + "HP:0040068", + "UPHENO:0002832", + "UPHENO:0084763", + "UPHENO:0077858", + "HP:0001939", + "HP:0001941", + "HP:0004360", + "UPHENO:0034391", + "UPHENO:0081546", + "UPHENO:0075952", + "UPHENO:0080300", + "UPHENO:0076289", + "UPHENO:0004459", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0051937", + "HP:0000118", + "UPHENO:0031193", + "HP:0000924", + "UPHENO:0052116", + "UPHENO:0051668", + "UPHENO:0078554", + "UPHENO:0082467", + "UPHENO:0076740", + "UPHENO:0082542", + "UPHENO:0015280", + "UPHENO:0082129", + "HP:0032581", + "HP:0004912", + "HP:0033127", + "UPHENO:0041610", + "HP:0000093", + "UPHENO:0076692", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0086908", + "UPHENO:0075696", + "HP:0001871", + "HP:0002857", + "UPHENO:0076779", + "UPHENO:0068538", + "HP:0040064", + "UPHENO:0002885", + "HP:0011844", + "UPHENO:0041098", + "UPHENO:0002830", + "UPHENO:0068054", + "UPHENO:0082875", + "UPHENO:0051186", + "HP:0001969", + "UPHENO:0051739", + "UPHENO:0084767", + "HP:0100606", + "UPHENO:0051686", + "UPHENO:0076767", + "UPHENO:0087993", + "UPHENO:0086628", + "HP:0030760", + "UPHENO:0001002", + "HP:0002597", + "HP:0000940", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0031310", + "HP:0011793", + "UPHENO:0086780", + "HP:0002981", + "HP:0000001", + "HP:0004348", + "HP:0002814", + "UPHENO:0020748", + "HP:0040156", + "UPHENO:0076299", + "UPHENO:0051930", + "HP:0003355", + "HP:0012252", + "UPHENO:0002896", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0084653", + "HP:0100491", + "HP:0003330", + "UPHENO:0086635", + "UPHENO:0001005", + "HP:0045049", + "HP:0100529", + "HP:0002813", + "UPHENO:0020584", + "BFO:0000001", + "UPHENO:0082538", + "UPHENO:0082539", + "UPHENO:0086956", + "UPHENO:0049628", + "UPHENO:0002536", + "HP:0002097", + "HP:0002815", + "HP:0002148", + "UPHENO:0019970", + "HP:0001992", + "HP:0002086", + "UPHENO:0002406", + "UPHENO:0087433", + "UPHENO:0081544", + "HP:0034669", + "UPHENO:0046348", + "HP:0006530", + "UPHENO:0068040", + "HP:0001367", + "UPHENO:0082835", + "HP:0002088", + "HP:0006487", + "HP:0002979", + "UPHENO:0004536", + "UPHENO:0051960", + "UPHENO:0034253", + "UPHENO:0050080", + "UPHENO:0049904", + "UPHENO:0051709", + "UPHENO:0051804", + "UPHENO:0068110", + "UPHENO:0046284", + "UPHENO:0049587", + "UPHENO:0068091", + "HP:0032180", + "UPHENO:0041258", + "UPHENO:0051847", + "UPHENO:0075902", + "UPHENO:0066739", + "UPHENO:0034217", + "HP:0003111", + "HP:0002206", + "HP:0001942", + "UPHENO:0076294", + "UPHENO:0079536", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0003774", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "HP:0002748", + "UPHENO:0048707", + "HP:0011849", + "HP:0002664", + "UPHENO:0082543", + "UPHENO:0068089", + "HP:0004918" + ], + "has_phenotype_closure_label": [ + "Neoplasm of the lung", + "Neoplasm of the respiratory system", + "Lung adenocarcinoma", + "Hypertension", + "Abnormality of the cardiovascular system", + "Abnormal systemic blood pressure", + "Abnormality of the vasculature", + "Chronic kidney disease", + "non-functional anatomical entity", + "abnormal kidney morphology", + "Tubulointerstitial fibrosis", + "abnormal kidney epithelium morphology", + "Abnormality of the kidney", + "Renal fibrosis", + "Abnormal renal morphology", + "abnormal kidney", + "abnormal renal system morphology", + "Aciduria", + "increased level of amino acid in independent continuant", + "abnormal amino acid level", + "increased level of carboxylic acid in urine", + "Non-small cell lung carcinoma", + "increased level of organic acid in urine", + "abnormal urine amino acid level", + "abnormal cardiovascular system", + "Aminoaciduria", + "increased level of organic acid in independent continuant", + "abnormal independent continuant glucose level", + "increased level of glucose in urine", + "Abnormal urine carboxylic acid level", + "increased level of glucose in independent continuant", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of the urinary system", + "abnormality of renal system physiology", + "abnormal upper urinary tract", + "Proteinuria", + "abnormal role urine level", + "Stage 5 chronic kidney disease", + "increased level of organic molecular entity in independent continuant", + "abnormal urine chemical entity level", + "increased level of nitrogen molecular entity in independent continuant", + "Abnormality on pulmonary function testing", + "abnormality of anatomical entity physiology", + "abnormal nephron morphology", + "abnormality of respiratory system physiology", + "Abnormality of the skeletal system", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "abnormal limb", + "Abnormal renal physiology", + "curved anatomical entity", + "Abnormal nephron morphology", + "Hypophosphatemic rickets", + "abnormal biological_process", + "abnormal chemical entity level", + "abnormal metabolite independent continuant level", + "specifically dependent continuant", + "abnormality of cardiovascular system physiology", + "increased level of carboxylic acid in independent continuant", + "Abnormal DLCO", + "Abnormal diaphysis morphology", + "lung fibrosis", + "shape long bone", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "abnormal knee morphology", + "abnormal skeletal joint morphology", + "Abnormal blood phosphate concentration", + "Abnormality of limb bone", + "Abnormality of lower limb joint", + "increased independent continuant base level", + "Abnormal pulmonary interstitial morphology", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "increased level of chemical entity", + "abnormal hindlimb zeugopod", + "Abnormal urine protein level", + "abnormal homeostatic process", + "Abnormal cardiovascular system physiology", + "abnormal shape of continuant", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "Abnormal respiratory system morphology", + "abnormal urine glucose level", + "increased level of protein polypeptide chain in independent continuant", + "entity", + "abnormal limb bone morphology", + "abnormal hematopoietic system", + "Reduced bone mineral density", + "phenotype", + "Organic aciduria", + "decreased level of phosphate in independent continuant", + "abnormal independent continuant carboxylic acid level", + "Genu valgum", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "Abnormality of the upper urinary tract", + "shape anatomical entity in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "curved long bone", + "abnormal diaphysis morphology", + "abnormal anatomical entity morphology", + "Abnormal joint morphology", + "Abnormal appendicular skeleton morphology", + "increased level of monosaccharide in urine", + "Abnormal skeletal morphology", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "Abnormality of acid-base homeostasis", + "Increased blood pressure", + "curved hindlimb zeugopod", + "abnormal long bone morphology", + "abnormal phosphate level", + "abnormal nephron tubule morphology", + "abnormal limb morphology", + "abnormal phenotype by ontology source", + "Phenotypic abnormality", + "abnormal independent continuant amino acid level", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "non-functional kidney", + "abnormal diaphysis morphology in the independent continuant", + "abnormality of kidney physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "abnormal renal system", + "Abnormal long bone morphology", + "Abnormality of the knee", + "Abnormal renal tubule morphology", + "abnormal independent continuant carbohydrate level", + "Abnormal bone structure", + "curvature anatomical entity", + "abnormal skeletal system", + "quality", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal limb bone", + "Abnormal knee morphology", + "Abnormal respiratory system physiology", + "Abnormal homeostasis", + "Bowing of the legs", + "Abnormality of limb bone morphology", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity, curved", + "Glycosuria", + "Abnormality of the calf", + "abnormal respiratory system morphology", + "Renal insufficiency", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "increased level of amino acid in urine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "Abnormal lung morphology", + "abnormal vasculature", + "abnormal respiratory system", + "All", + "abnormal lung morphology", + "Hypophosphatemia", + "abnormal multicellular organism chemical entity level", + "abnormal independent continuant monoatomic ion level", + "increased level of protein polypeptide chain in urine", + "Emphysema", + "abnormal blood phosphate level", + "abnormal phosphate ion homeostasis", + "abnormal chemical homeostasis", + "Abnormal circulating metabolite concentration", + "Bowing of the long bones", + "Abnormality of bone mineral density", + "Hyperchloremic acidosis", + "Elevated urinary carboxylic acid", + "abnormal hindlimb joint", + "abnormal leg", + "abnormal independent continuant phosphate level", + "Pulmonary fibrosis", + "abnormal independent continuant chemical entity level", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased level of chemical entity", + "Abnormality of blood and blood-forming tissues", + "Decreased DLCO", + "continuant", + "anatomical entity fibrosis", + "Neoplasm by anatomical site", + "abnormal knee", + "abnormal anatomical entity mass density", + "increased level of monosaccharide in independent continuant", + "Decreased bone element mass density", + "abnormal bone element mass density", + "Neoplasm", + "abnormal hindlimb zeugopod, curved", + "Rickets", + "Abnormal bone ossification", + "abnormal blood chemical entity level", + "abnormal acid independent continuant level", + "abnormal acid bodily fluid level", + "increased independent continuant role level", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Acidosis", + "Abnormal renal insterstitial morphology", + "Abnormal tubulointerstitial morphology", + "Hyperchloremic metabolic acidosis", + "Abnormal urine metabolite level", + "abnormal blood monoatomic ion level", + "increased bodily fluid acid level", + "Metabolic acidosis", + "decreased level of phosphate in blood", + "abnormal role bodily fluid level", + "increased independent continuant acid level" + ], + "has_phenotype_count": 14, + "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": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": [ + "MSH:D005198", + "SNOMEDCT_US:236468006", + "SNOMEDCT_US:44673006", + "UMLS:C0341703" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "De toni-fanconi-debre syndrome", + "Renal tubular fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "HP", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0009213", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group C", + "full_name": null, + "deprecated": null, + "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", + "xref": [ + "DOID:0111087", + "GARD:15168", + "NCIT:C125704", + "OMIM:227645", + "UMLS:C3468041" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FA3", + "FACC", + "FANCC", + "Fanconi Anemia, complementation group type C", + "Fanconi anaemia complementation group type C", + "Fanconi anemia complementation group C", + "Fanconi anemia complementation group type C", + "Fanconi anemia, complementation group C", + "Fanconi pancytopenia type 3", + "Fanconi pancytopenia, type 3", + "facc" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000086", + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0011940", + "HP:0000252", + "HP:0000957", + "HP:0000815", + "HP:0001017", + "HP:0000104", + "HP:0003974", + "HP:0000028", + "HP:0001876", + "HP:0000325", + "HP:0009778", + "HP:0001873", + "HP:0001511", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0003221", + "HP:0009943", + "HP:0005528", + "HP:0000978", + "HP:0000953", + "HP:0001903", + "HP:0001629", + "HP:0001909", + "HP:0000081", + "HP:0000085", + "HP:0001371", + "HP:0004322", + "HP:0000365", + "HP:0020073", + "HP:0000486", + "HP:0003214", + "HP:0003213", + "HP:0000286" + ], + "has_phenotype_label": [ + "Ectopic kidney", + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Anterior wedging of T12", + "Microcephaly", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Anemic pallor", + "Renal agenesis", + "Absent radius", + "Cryptorchidism", + "Pancytopenia", + "Triangular face", + "Short thumb", + "Thrombocytopenia", + "Intrauterine growth retardation", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bone marrow hypocellularity", + "Bruising susceptibility", + "Hyperpigmentation of the skin", + "Anemia", + "Ventricular septal defect", + "Leukemia", + "Duplicated collecting system", + "Horseshoe kidney", + "Flexion contracture", + "Short stature", + "Hearing impairment", + "Hypopigmented macule", + "Strabismus", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Epicanthus" + ], + "has_phenotype_closure": [ + "HP:0000492", + "HP:0032039", + "UPHENO:0087058", + "UPHENO:0065599", + "HP:0030669", + "HP:0000286", + "UPHENO:0049964", + "HP:0003254", + "UPHENO:0049671", + "UPHENO:0049952", + "HP:0003214", + "HP:0012373", + "HP:0000549", + "UPHENO:0079828", + "UPHENO:0049586", + "HP:0020073", + "UPHENO:0080585", + "UPHENO:0050620", + "HP:0000365", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0081440", + "HP:0034430", + "HP:0003549", + "UPHENO:0041821", + "UPHENO:0080351", + "HP:0004742", + 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"UPHENO:0021474", + "UPHENO:0002595", + "HP:0009943", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0041629", + "UPHENO:0080382", + "HP:0001510", + "UPHENO:0086201", + "UPHENO:0087888", + "UPHENO:0002598", + "UPHENO:0086855", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0021800", + "UPHENO:0085874", + "HP:0008056", + "HP:0000025", + "UPHENO:0005651", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "HP:0002818", + "UPHENO:0076718", + "HP:0040072", + "HP:0031704", + "HP:0040070", + "UPHENO:0080187", + "HP:0000085", + "HP:0003953", + "UPHENO:0025945", + "HP:0006503", + "HP:0012874", + "HP:0009825", + "UPHENO:0081511", + "HP:0005922", + "UPHENO:0084766", + "HP:0009601", + "HP:0100542", + "UPHENO:0088148", + "UPHENO:0084761", + "HP:0002973", + "UPHENO:0041156", + "UPHENO:0081566", + "HP:0011121", + "UPHENO:0079826", + "HP:0009142", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0087307", + "HP:0011276", + "UPHENO:0084448", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "UPHENO:0076707", + "UPHENO:0021791", + "UPHENO:0081435", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0076724", + "UPHENO:0078452", + "HP:0008422", + "UPHENO:0003055", + "HP:0011805", + "HP:0001671", + "HP:0009777", + "HP:0011297", + "UPHENO:0012274", + "UPHENO:0085118", + "HP:0001167", + "HP:0040064", + "HP:0011940", + "UPHENO:0080662", + "UPHENO:0003116", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "UPHENO:0050034", + "UPHENO:0009341", + "UPHENO:0020584", + "HP:0002813", + "HP:0011991", + "UPHENO:0074589", + "HP:0011354", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0088338", + "HP:0000081", + "UPHENO:0085873", + "HP:0000234", + "HP:0001933", + "HP:0000325", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085194", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0001017", + "UPHENO:0011498", + "UPHENO:0026181", + "HP:0003011", + "HP:0002715", + "UPHENO:0002813", + "UPHENO:0008593", + "UPHENO:0002816", + "UPHENO:0053580", + "UPHENO:0079876", + "HP:0006265", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "UPHENO:0041838", + "HP:0000079", + "HP:0012638", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0055730", + "UPHENO:0076723", + "UPHENO:0085984", + "HP:0020047", + "HP:0011893", + "UPHENO:0052970", + "UPHENO:0075787", + "UPHENO:0015324", + "HP:0000925", + "UPHENO:0081423", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0045060", + "UPHENO:0072402", + "UPHENO:0072195", + "HP:0001876", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0085076", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0001629", + "HP:0000951", + "HP:0012210", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0076740", + 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"HP:0000707", + "UPHENO:0049700", + "HP:0001911", + "HP:0005927", + "HP:0011029", + "HP:0000818", + "UPHENO:0086045", + "UPHENO:0076727", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0086019", + "UPHENO:0086700", + "HP:0004322", + "HP:0001249", + "HP:0100543", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0012759", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0002433", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0046759", + "UPHENO:0084107", + "HP:0009121", + "UPHENO:0002896", + "UPHENO:0080300", + "UPHENO:0076695", + "UPHENO:0054970", + "UPHENO:0020950", + "HP:0003468", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0082129", + "UPHENO:0086023", + "UPHENO:0041226", + "UPHENO:0085875", + "HP:0011355", + "UPHENO:0051124", + "HP:0003312", + "UPHENO:0082122", + "UPHENO:0076702", + "UPHENO:0049588", + "HP:0012733", + "UPHENO:0026023", + "UPHENO:0019888", + "UPHENO:0001005", + "HP:0040195", + "UPHENO:0075195", + "HP:0002977", + "UPHENO:0050625", + "HP:0010461", + "HP:0000929", + "HP:0000240", + "UPHENO:0087928", + "HP:0000078", + "UPHENO:0005016", + "HP:0000119", + "UPHENO:0026128", + "HP:0000152", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0026980", + "UPHENO:0075997", + "UPHENO:0020888", + "UPHENO:0086002", + "HP:0000252", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080126", + "UPHENO:0076799", + "HP:0001873", + "HP:0001034", + "HP:0002011", + "UPHENO:0074575", + "UPHENO:0009399", + "UPHENO:0025211", + "UPHENO:0050121", + "UPHENO:0074572", + "HP:0001574", + "UPHENO:0080377", + "BFO:0000020", + "UPHENO:0041381", + "UPHENO:0059829", + "UPHENO:0087547", + "UPHENO:0001001", + "UPHENO:0088170", + "UPHENO:0082682", + "UPHENO:0003811", + "UPHENO:0080221", + "UPHENO:0015327", + "UPHENO:0002635", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0025100", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0024906", + "UPHENO:0049985", + "UPHENO:0078729", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0087369", + "UPHENO:0085195", + "UPHENO:0041467", + "HP:0000135", + "HP:0000815", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "HP:0000080", + "UPHENO:0076710", + "HP:0008373", + "UPHENO:0066972", + "UPHENO:0088176", + "HP:0001903", + "HP:0001877", + "HP:0000980", + "HP:0000953", + "UPHENO:0088162", + "HP:0012130", + "UPHENO:0050113", + "HP:0000104", + "UPHENO:0002219", + "HP:0011843", + "HP:0011729", + "UPHENO:0020809", + "HP:0000957", + "HP:0009823", + "UPHENO:0087510" + ], + "has_phenotype_closure_label": [ + "abnormal zone of skin morphology", + "abnormal ocular adnexa", + "abnormal skin of head morphology", + "abnormal skin of face morphology", + "increased size of the anatomical entity in independent continuant", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal cellular response to stress", + "Atypical behavior", + "abnormal behavior process", + "Abnormal conjugate eye movement", + "Abnormal eye physiology", + "abnormal behavior", + "Abnormality of the ear", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "Hearing impairment", + "decreased size of the multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Abnormality of body height", + "Abnormality of connective tissue", + "abnormality of musculoskeletal system physiology", + "3-D shape anatomical entity", + "concave 3-D shape anatomical entity", + "abnormal renal collecting system", + "abnormality of anatomical entity height", + "Duplicated collecting system", + "Abnormal renal collecting system morphology", + "Neoplasm", + "Neoplasm by anatomical site", + "Abnormal eyelid morphology", + "Abnormal heart morphology", + "Hypopigmented macule", + "Abnormal cardiac septum morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal heart morphology", + "abnormal cardiac septum morphology", + "Vascular skin abnormality", + "Abnormal cardiovascular system physiology", + "3-D shape anatomical entity in independent continuant", + "Bruising susceptibility", + "abnormal blood circulation", + "Subcutaneous hemorrhage", + "Internal hemorrhage", + "abnormal vasculature", + "Bone marrow hypocellularity", + "Flexion contracture", + "Duplication of bones involving the upper extremities", + "shape kidney", + "Duplication of phalanx of hand", + "Duplication of thumb phalanx", + "Abnormal long bone morphology", + "abnormal phalanx morphology", + "Duplication of hand bones", + "Complete duplication of thumb phalanx", + "Abnormality of thumb phalanx", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "abnormality of anatomical entity mass", + "Abnormality of body weight", + "Decreased anatomical entity mass", + "Small for gestational age", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "U-shaped anatomical entity", + "Abnormal eye morphology", + "Abnormality of the orbital region", + "Abnormal reticulocyte morphology", + "abnormal number of anatomical enitites of type reticulocyte", + "abnormal cardiovascular system", + "delayed growth", + "delayed biological_process", + "Growth delay", + "decreased embryo development", + "abnormal embryo development", + "decreased length of manual digit 1", + "decreased length of anatomical entity in independent continuant", + "Short digit", + "Abnormality of joint mobility", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "Abnormal ventricular septum morphology", + "decreased size of the anatomical entity in the independent continuant", + "decreased size of the anatomical entity", + "decreased height of the anatomical entity", + "Abnormality of the face", + "abnormal face morphology", + "abnormal face", + "Abnormal facial shape", + "Pancytopenia", + "increased anatomical entity length in independent continuant", + "abnormally decreased number of platelet", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal platelet", + "abnormal blood cell morphology", + "Abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal platelet morphology", + "abnormal bone marrow cell morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal response to stress", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal external male genitalia", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "decreased length of anatomical entity", + "absent sperm in the semen", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "absent sperm in the independent continuant", + "abnormality of internal male genitalia physiology", + "Decreased body weight", + "decreased qualitatively developmental process", + "absent gamete", + "abnormality of camera-type eye physiology", + "Reticulocytopenia", + "abnormal gamete", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system morphology", + "abnormal testis morphology", + "abnormal eyelid morphology", + "Abnormal internal genitalia", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "Azoospermia", + "Abnormality of the male genitalia", + "abnormal multicellular organismal reproductive process", + "Generalized abnormality of skin", + "abnormal internal genitalia", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormal upper limb bone morphology", + "Abnormal ocular adnexa morphology", + "abnormal forelimb zeugopod bone", + "absent radius bone in the independent continuant", + "absent radius bone", + "abnormal ocular adnexa morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "Aplasia/hypoplasia involving forearm bones", + "abnormal manual digit morphology in the independent continuant", + "Strabismus", + "absent kidney", + "absent anatomical entity in the independent continuant", + "Epicanthus", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal axial skeleton morphology", + "aplasia or hypoplasia of manual digit", + "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "Puberty and gonadal disorders", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormality of the cell cycle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of limb bone", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "2-D shape anatomical entity", + "Abnormality of limb bone morphology", + "Joint contracture", + "Abnormality of limbs", + "decreased multicellular organism mass", + "Vertebral wedging", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "absent anatomical entity", + "abnormal sensory perception", + "abnormal manus", + "abnormal eye movement", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "Abnormal neutrophil count", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "agenesis of anatomical entity", + "cuneate vertebra", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "U-shaped kidney", + "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of blood and blood-forming tissues", + "Aplasia/Hypoplasia of the thumb", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal bleeding", + "Renal hypoplasia/aplasia", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "Complete duplication of phalanx of hand", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal appendicular skeleton morphology", + "Thrombocytopenia", + "abnormal developmental process involved in reproduction", + "Abnormality of the immune system", + "abnormally localised anatomical entity", + "decreased spermatogenesis", + "abnormal kidney morphology", + "Abnormality of the genital system", + "abnormal arm", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "Abnormal leukocyte count", + "increased length of the anatomical entity", + "Abnormality of eye movement", + "Abnormality of the urinary system", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormally localised anatomical entity in independent continuant", + "Abnormal tendon morphology", + "abnormally decreased functionality of the gonad", + "abnormal cardiac ventricle morphology in the heart", + "Abnormal cell morphology", + "phenotype", + "absent digit", + "abnormally localised kidney", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal limb", + "Abnormality of the eye", + "abnormal upper urinary tract", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "changed embryo development rate", + "Intrauterine growth retardation", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the limb", + "abnormally decreased number of neutrophil", + "Abnormality of the ocular adnexa", + "Abnormality of the skeletal system", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "abnormal forebrain morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "Aplasia/Hypoplasia of fingers", + "abnormal response to stimulus", + "abnormal skull morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "abnormal genitourinary system", + "Abnormality of the upper urinary tract", + "increased length of the epicanthal fold", + "shape anatomical entity in independent continuant", + "abnormal renal system", + "abnormal cardiac ventricle morphology", + "abnormal vertebral column morphology", + "Triangular face", + "abnormal anatomical entity topology in independent continuant", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "quality", + "phenotype by ontology source", + "abnormal renal system morphology", + "decreased sensory perception of sound", + "abnormal skin of body morphology", + "abnormal tendon morphology", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal granulocyte morphology", + "abnormal size of multicellular organism", + "abnormal opening of the anatomical entity", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "abnormal radius bone morphology", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "abnormal anatomical entity morphology in the appendage girdle complex", + "Chromosomal breakage induced by crosslinking agents", + "abnormal vertebra morphology", + "Abnormal cellular phenotype", + "Ectopic kidney", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormality of DNA repair", + "abnormally decreased number of cell", + "abnormal cell", + "abnormal neutrophil", + "Abnormality of the skin", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "Abnormality of skull size", + "Hematological neoplasm", + "Abnormality of the hand", + "abnormal incomplete closing of the interventricular septum", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "aplasia or hypoplasia of manual digit 1", + "Leukemia", + "entity", + "2-D shape anatomical entity in independent continuant", + "Finger aplasia", + "continuant", + "shape vertebra", + "Abnormality of brain morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal immune system", + "Abnormal vertebral morphology", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "abnormal manus morphology", + "Abnormality of the musculature", + "abnormal development of anatomical entity", + "abnormal digit", + "Microphthalmia", + "abnormal skeletal system", + "Abnormal joint physiology", + "Irregular hyperpigmentation", + "abnormal connective tissue", + "abnormal limb bone morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Abnormal nervous system physiology", + "Prolonged G2 phase of cell cycle", + "abnormal cell cycle", + "abnormality of anatomical entity physiology", + "Abnormality of globe size", + "Non-obstructive azoospermia", + "Intellectual disability", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal cardiovascular system morphology", + "abnormal phalanx of manus morphology", + "Abnormality of mental function", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "Neurodevelopmental abnormality", + "abnormal male reproductive system", + "Cognitive impairment", + "Abnormality of the nervous system", + "absent germ cell", + "changed biological_process rate", + "increased biological_process in skin of body", + "decreased length of tendon", + "abnormal biological_process in independent continuant", + "abnormal vertebral column", + "abnormal shape of vertebra", + "triangular anatomical entity in independent continuant", + "abnormal musculature", + "abnormal nervous system", + "cuneate anatomical entity", + "abnormally decreased number of leukocyte in the independent continuant", + "Anterior wedging of T12", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "Abnormal granulocyte count", + "triangular anatomical entity", + "shape anatomical entity", + "Abnormal form of the vertebral bodies", + "Abnormality of thrombocytes", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "abnormal anatomical entity morphology in the brain", + "increased size of the anatomical entity", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "abnormal DNA damage response", + "abnormal head morphology", + "abnormal gamete generation", + "Abnormality of neutrophils", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skull morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Morphological central nervous system abnormality", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "Abnormality of head or neck", + "abnormal reproductive system", + "abnormal cell morphology", + "abnormal nervous system morphology", + "abnormal anatomical entity morphology in the heart", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "decreased anatomical entity mass", + "abnormal long bone morphology", + "Abnormality of the head", + "abnormal bone marrow cell", + "Anemia", + "decreased size of the eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "increased pigmentation in skin of body", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal biological_process", + "abnormal bony vertebral centrum morphology", + "abnormal integument", + "Abnormality of the vertebral column", + "Macule", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "increased qualitatively biological_process in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormal cardiac ventricle morphology", + "Cafe-au-lait spot", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "increased biological_process in independent continuant", + "Hyperpigmentation of the skin", + "abnormal interventricular septum morphology", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Ventricular septal defect", + "Abnormality of blood circulation", + "abnormally decreased number of reticulocyte", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "abnormal enucleated reticulocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "Abnormality of reproductive system physiology", + "Abnormal musculoskeletal physiology", + "abnormal craniocervical region morphology", + "anatomical entity dysfunction in independent continuant", + "Horseshoe kidney", + "absent sperm", + "abnormality of reproductive system physiology", + "Hypogonadism", + "Anemic pallor", + "aplasia or hypoplasia of radius bone", + "Abnormal erythrocyte morphology", + "abnormal orbital region", + "Growth abnormality", + "Abnormal localization of kidney", + "Pallor", + "absent kidney in the independent continuant", + "abnormal DNA repair", + "decreased qualitatively sensory perception of sound", + "abnormality of cardiovascular system physiology", + "Abnormality of the upper limb", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "Renal agenesis", + "Absent radius", + "Aplasia/Hypoplasia of the radius", + "absent radius bone in the forelimb", + "absent anatomical entity in the skeletal system", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "increased qualitatively biological_process", + "All", + "Aplasia involving bones of the extremities", + "Abnormality of the vasculature", + "aplastic forelimb zeugopod bone" + ], + "has_phenotype_count": 38, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0010953", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group E", + "full_name": null, + "deprecated": null, + "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "xref": [ + "DOID:0111084", + "GARD:15324", + "NCIT:C125709", + "OMIM:600901", + "UMLS:C3160739" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCE", + "FANCE Fanconi anaemia", + "FANCE Fanconi anemia", + "Fanconi Anemia, complementation group type E", + "Fanconi anaemia caused by mutation in FANCE", + "Fanconi anaemia complementation group type E", + "Fanconi anemia caused by mutation in FANCE", + "Fanconi anemia complementation group E", + "Fanconi anemia complementation group type E", + "Fanconi anemia, complementation group E", + "face" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000086", + "HP:0001875", + "HP:0009777", + "HP:0001249", + "HP:0000252", + "HP:0001627", + "HP:0000957", + "HP:0000815", + "HP:0000104", + "HP:0001017", + "HP:0001876", + "HP:0000028", + "HP:0003974", + "HP:0001873", + "HP:0009778", + "HP:0001896", + "HP:0000568", + "HP:0001518", + "HP:0001263", + "HP:0003221", + "HP:0009943", + "HP:0000978", + "HP:0000953", + "HP:0001903", + "HP:0001909", + "HP:0000081", + "HP:0004322", + "HP:0000486", + "HP:0000365", + "HP:0003214", + "HP:0003213", + "HP:0000085" + ], + "has_phenotype_label": [ + "Ectopic kidney", + "Neutropenia", + "Absent thumb", + "Intellectual disability", + "Microcephaly", + "Abnormal heart morphology", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Renal agenesis", + "Anemic pallor", + "Pancytopenia", + "Cryptorchidism", + "Absent radius", + "Thrombocytopenia", + "Short thumb", + "Reticulocytopenia", + "Microphthalmia", + "Small for gestational age", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + "Complete duplication of thumb phalanx", + "Bruising susceptibility", + "Hyperpigmentation of the skin", + "Anemia", + "Leukemia", + "Duplicated collecting system", + "Short stature", + "Strabismus", + "Hearing impairment", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Horseshoe kidney" + ], + "has_phenotype_closure": [ + "UPHENO:0082129", + "UPHENO:0041821", + "UPHENO:0049964", + "HP:0003254", + "UPHENO:0049671", + "UPHENO:0051124", + "UPHENO:0049952", + "HP:0003214", + "HP:0000365", + "UPHENO:0052231", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0050620", + "UPHENO:0080585", + "HP:0012373", + "HP:0000549", + "UPHENO:0079828", + "UPHENO:0049586", + "UPHENO:0000543", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0052970", + "UPHENO:0075787", + "UPHENO:0080351", + "HP:0004742", + "HP:0011793", + "UPHENO:0080581", + "HP:0011028", + "HP:0000978", + "HP:0003213", + "UPHENO:0051097", + "HP:0011025", + "UPHENO:0082444", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "HP:0009998", + "HP:0011018", + "HP:0011314", + "HP:0004275", + "UPHENO:0084447", + "HP:0011017", + "HP:0002664", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "HP:0004377", + "UPHENO:0050845", + "UPHENO:0049990", + "UPHENO:0049748", + "HP:0003220", + "HP:0001263", + "HP:0002597", + "UPHENO:0049874", + "HP:0004325", + "HP:0004323", + "UPHENO:0054299", + "UPHENO:0010763", + "HP:0001507", + "HP:0001518", + "UPHENO:0010795", + "UPHENO:0082761", + "HP:0100887", + "HP:0000478", + "HP:0000271", + "HP:0000568", + "HP:0012372", + "UPHENO:0002910", + "HP:0000002", + "UPHENO:0069523", + "UPHENO:0003020", + "HP:0004312", + "UPHENO:0085263", + "HP:0001896", + "UPHENO:0012541", + "HP:0009381", + "UPHENO:0031839", + "UPHENO:0046411", + "UPHENO:0041465", + "UPHENO:0046505", + "UPHENO:0046624", + "UPHENO:0068971", + "HP:0000496", + "UPHENO:0087472", + "UPHENO:0046707", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "HP:0002818", + "UPHENO:0076718", + "HP:0002973", + "HP:0040072", + "HP:0031704", + "HP:0040070", + "UPHENO:0080187", + "HP:0000085", + "HP:0003953", + "UPHENO:0025945", + "HP:0006503", + "UPHENO:0081511", + "UPHENO:0087510", + "UPHENO:0009341", + "UPHENO:0087501", + "UPHENO:0002597", + "UPHENO:0053298", + "UPHENO:0005597", + "UPHENO:0050101", + "HP:0009825", + "HP:0012874", + "HP:0000812", + "HP:0000811", + "HP:0000028", + "UPHENO:0041226", + "UPHENO:0086023", + "UPHENO:0049701", + "HP:0008669", + "UPHENO:0078452", + "UPHENO:0053644", + "UPHENO:0049970", + "UPHENO:0021474", + "UPHENO:0002595", + "HP:0009943", + "UPHENO:0087846", + "UPHENO:0086198", + "HP:0012243", + "UPHENO:0041629", + "UPHENO:0080382", + "HP:0001510", + "UPHENO:0086201", + "UPHENO:0002598", + "HP:0000027", + "HP:0000035", + "UPHENO:0087973", + "HP:0011927", + "UPHENO:0052778", + "UPHENO:0020950", + "UPHENO:0021800", + "UPHENO:0085874", + "HP:0008056", + "HP:0000025", + "HP:0005922", + "UPHENO:0084766", + "HP:0009601", + "HP:0100542", + "UPHENO:0041075", + "UPHENO:0050108", + "UPHENO:0085144", + "UPHENO:0088148", + "UPHENO:0084761", + "UPHENO:0081566", + "HP:0011121", + "UPHENO:0079826", + "HP:0009142", + "UPHENO:0018390", + "UPHENO:0008668", + "UPHENO:0002964", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0011276", + "UPHENO:0084448", + "HP:0000924", + "UPHENO:0076941", + "HP:0010987", + "UPHENO:0081435", + "UPHENO:0049588", + "UPHENO:0026023", + "HP:0012733", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0076724", + "UPHENO:0003055", + "HP:0009777", + "HP:0011297", + "UPHENO:0012274", + "UPHENO:0085118", + "HP:0001167", + "HP:0040064", + "UPHENO:0080662", + "UPHENO:0003116", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0020584", + "HP:0002813", + "HP:0011991", + "UPHENO:0074589", + "HP:0011354", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0088338", + "HP:0000081", + "UPHENO:0085873", + "HP:0000234", + "HP:0001933", + "UPHENO:0035025", + "UPHENO:0088321", + "UPHENO:0085194", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0001017", + "UPHENO:0011498", + "UPHENO:0026181", + "UPHENO:0084987", + "HP:0002715", + "UPHENO:0008593", + "UPHENO:0053580", + "UPHENO:0079876", + "HP:0006265", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0000079", + "HP:0012638", + "UPHENO:0088186", + "HP:0009815", + "UPHENO:0076723", + "UPHENO:0085984", + "HP:0020047", + "HP:0011893", + "UPHENO:0087355", + "UPHENO:0002678", + "UPHENO:0049873", + "HP:0005561", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0045060", + "UPHENO:0085076", + "UPHENO:0080300", + "UPHENO:0002896", + "UPHENO:0076791", + "UPHENO:0086589", + "HP:0000951", + "HP:0012210", + "UPHENO:0076779", + "UPHENO:0085344", + "UPHENO:0081423", + "UPHENO:0080325", + "UPHENO:0002642", + "HP:0001627", + "UPHENO:0076740", + "UPHENO:0015280", + "HP:0000001", + "HP:0007400", + "HP:0001892", + "HP:0000315", + "UPHENO:0021561", + "UPHENO:0085189", + "UPHENO:0080200", + "UPHENO:0085371", + "HP:0025354", + "UPHENO:0049367", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0002240", + "UPHENO:0052178", + "HP:0008678", + "HP:0000486", + "HP:0001172", + "HP:0000118", + "HP:0009997", + "HP:0011446", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0049940", + "HP:0010935", + "UPHENO:0002764", + "UPHENO:0085405", + "UPHENO:0008523", + "UPHENO:0087518", + "UPHENO:0050008", + "UPHENO:0002903", + "HP:0011875", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0086005", + "UPHENO:0081755", + "HP:0000086", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0087924", + "UPHENO:0001002", + "HP:0011961", + "UPHENO:0087006", + "UPHENO:0075219", + "UPHENO:0077426", + "UPHENO:0088335", + "HP:0003974", + "UPHENO:0076703", + "HP:0001875", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0002406", + "UPHENO:0074584", + "HP:0009778", + "HP:0006496", + "UPHENO:0002371", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0054261", + "UPHENO:0001003", + "HP:0001881", + "UPHENO:0075902", + "HP:0002060", + "UPHENO:0082794", + "UPHENO:0026506", + "HP:0032309", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "UPHENO:0080362", + "UPHENO:0002948", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0085330", + "UPHENO:0049622", + "UPHENO:0086016", + "UPHENO:0006910", + "HP:0009602", + "UPHENO:0085070", + "HP:0010974", + "HP:0012443", + "UPHENO:0053588", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0085042", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0032251", + "UPHENO:0054957", + "UPHENO:0004459", + "UPHENO:0000541", + "HP:0001874", + "HP:0025461", + "UPHENO:0076805", + "HP:0001155", + "HP:0002817", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0049700", + "HP:0001911", + "HP:0005927", + "HP:0011029", + "HP:0000818", + "UPHENO:0086045", + "UPHENO:0076727", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0086019", + "UPHENO:0086700", + "HP:0004322", + "HP:0001249", + "HP:0100543", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0012759", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0002433", + "HP:0000032", + "UPHENO:0022529", + "UPHENO:0076702", + "UPHENO:0001005", + "HP:0040195", + "UPHENO:0075195", + "HP:0009121", + "HP:0002977", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0050625", + "HP:0010461", + "HP:0000929", + "HP:0000240", + "HP:0000078", + "HP:0012145", + "HP:0000364", + "BFO:0000002", + "HP:0012639", + "UPHENO:0026980", + "UPHENO:0075997", + "UPHENO:0020888", + "UPHENO:0086002", + "HP:0000252", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0080126", + "UPHENO:0076799", + "HP:0001626", + "UPHENO:0085356", + "UPHENO:0076810", + "HP:0030680", + "UPHENO:0086173", + "UPHENO:0076776", + "UPHENO:0002219", + "HP:0009823", + "HP:0000957", + "HP:0001873", + "HP:0001034", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0001876", + "HP:0002011", + "UPHENO:0074575", + "HP:0012758", + "UPHENO:0009399", + "UPHENO:0025211", + "UPHENO:0050121", + "UPHENO:0074572", + "HP:0001574", + "UPHENO:0080377", + "UPHENO:0054970", + "UPHENO:0085875", + "HP:0011355", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0087547", + "UPHENO:0001001", + "UPHENO:0088170", + "UPHENO:0082682", + "UPHENO:0003811", + "UPHENO:0080221", + "UPHENO:0002635", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0025100", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0024906", + "UPHENO:0087369", + "UPHENO:0085195", + "HP:0000135", + "HP:0000815", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "HP:0000080", + "HP:0008373", + "UPHENO:0066972", + "UPHENO:0050113", + "HP:0000104", + "UPHENO:0088176", + "HP:0001903", + "HP:0001877", + "HP:0000980", + "HP:0000953", + "UPHENO:0088162", + "HP:0012130", + "UPHENO:0087339", + "HP:0011873", + "UPHENO:0086049", + "UPHENO:0085302", + "UPHENO:0049985", + "UPHENO:0085354", + "UPHENO:0066927", + "UPHENO:0078729", + "UPHENO:0026128", + "HP:0000119", + "HP:0000152", + "UPHENO:0005016", + "UPHENO:0005651" + ], + "has_phenotype_closure_label": [ + "3-D shape anatomical entity", + "shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal cellular response to stress", + "Abnormality of the ear", + "abnormality of ear physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "Hearing abnormality", + "Hearing impairment", + "Atypical behavior", + "abnormal behavior process", + "Abnormal conjugate eye movement", + "Abnormal eye physiology", + "abnormal behavior", + "decreased size of the multicellular organism", + "delayed biological_process", + "Growth delay", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "Abnormality of body height", + "abnormal renal collecting system", + "abnormality of anatomical entity height", + "Duplicated collecting system", + "Abnormal renal collecting system morphology", + "Neoplasm", + "Neoplasm by anatomical site", + "Vascular skin abnormality", + "Abnormal cardiovascular system physiology", + "3-D shape anatomical entity in independent continuant", + "Bruising susceptibility", + "abnormal blood circulation", + "Subcutaneous hemorrhage", + "Internal hemorrhage", + "abnormal vasculature", + "Duplication of bones involving the upper extremities", + "shape kidney", + "Duplication of phalanx of hand", + "Duplication of thumb phalanx", + "Abnormal long bone morphology", + "abnormal phalanx morphology", + "Duplication of hand bones", + "Complete duplication of thumb phalanx", + "Abnormality of thumb phalanx", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal chromatin organization", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal cellular process", + "Chromosomal breakage induced by crosslinking agents", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "Neurodevelopmental delay", + "abnormality of anatomical entity mass", + "Abnormality of body weight", + "Decreased anatomical entity mass", + "Small for gestational age", + "decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "decreased height of the anatomical entity", + "Abnormality of the face", + "abnormal face morphology", + "U-shaped anatomical entity", + "Abnormal eye morphology", + "Abnormality of the orbital region", + "abnormal face", + "Abnormal reticulocyte morphology", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased length of manual digit 1", + "decreased length of anatomical entity in independent continuant", + "Short digit", + "decreased length of digit", + "Short finger", + "decreased length of manual digit", + "decreased size of the anatomical entity in the independent continuant", + "decreased size of the anatomical entity", + "Abnormal upper limb bone morphology", + "abnormal forelimb zeugopod bone", + "absent radius bone in the independent continuant", + "absent radius bone", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "Aplasia/hypoplasia involving forearm bones", + "Abnormality of the vasculature", + "aplastic forelimb zeugopod bone", + "decreased anatomical entity mass", + "abnormal long bone morphology", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "absent anatomical entity in the skeletal system", + "absent radius bone in the forelimb", + "Abnormality of the cell cycle", + "Global developmental delay", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the radius", + "abnormal radius bone morphology", + "Absent radius", + "abnormal response to stress", + "decreased developmental process", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "abnormal reproductive process", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal external male genitalia", + "decreased qualitatively reproductive process", + "abnormal male reproductive organ morphology", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "decreased length of anatomical entity", + "absent sperm in the semen", + "abnormal number of anatomical enitites of type sperm", + "abnormal spermatogenesis", + "absent sperm in the independent continuant", + "abnormality of internal male genitalia physiology", + "Decreased body weight", + "decreased qualitatively developmental process", + "absent gamete", + "abnormality of camera-type eye physiology", + "Reticulocytopenia", + "abnormal gamete", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "Cryptorchidism", + "abnormally localised testis", + "changed developmental process rate", + "abnormal male reproductive system morphology", + "abnormal manual digit morphology in the independent continuant", + "Strabismus", + "absent kidney", + "absent anatomical entity in the independent continuant", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal axial skeleton morphology", + "aplasia or hypoplasia of manual digit", + "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "Puberty and gonadal disorders", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormality of limb bone", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "absent anatomical entity", + "abnormal sensory perception", + "abnormal manus", + "abnormal eye movement", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "Abnormal neutrophil count", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "agenesis of anatomical entity", + "aplasia or hypoplasia of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "U-shaped kidney", + "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of blood and blood-forming tissues", + "Aplasia/Hypoplasia of the thumb", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the forelimb", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal bleeding", + "Renal hypoplasia/aplasia", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "Complete duplication of phalanx of hand", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal appendicular skeleton morphology", + "abnormal developmental process involved in reproduction", + "Thrombocytopenia", + "Abnormality of the immune system", + "abnormally localised anatomical entity", + "decreased spermatogenesis", + "abnormal kidney morphology", + "Abnormality of the genital system", + "abnormal arm", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "Abnormal leukocyte count", + "abnormal multicellular organismal reproductive process", + "Abnormality of eye movement", + "Abnormality of the urinary system", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "abnormally localised anatomical entity in independent continuant", + "abnormally decreased functionality of the gonad", + "Abnormal cell morphology", + "phenotype", + "absent digit", + "abnormally localised kidney", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal limb", + "Abnormality of the eye", + "abnormal upper urinary tract", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "Short thumb", + "abnormal manual digit 1 morphology", + "absent anatomical entity in the limb", + "abnormally decreased number of neutrophil", + "shape anatomical entity", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal ear physiology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "Aplasia/Hypoplasia of fingers", + "abnormal response to stimulus", + "abnormal skull morphology", + "abnormal shape of continuant", + "abnormal erythroid lineage cell morphology", + "Abnormal platelet morphology", + "abnormal genitourinary system", + "Abnormality of the upper urinary tract", + "abnormal renal system", + "abnormal anatomical entity topology in independent continuant", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "abnormal renal system morphology", + "decreased sensory perception of sound", + "abnormal skin of body morphology", + "abnormal growth", + "abnormal leukocyte morphology", + "Aplasia involving bones of the extremities", + "increased qualitatively biological_process", + "All", + "abnormal granulocyte morphology", + "abnormal size of multicellular organism", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "Abnormal finger phalanx morphology", + "aplastic manual digit 1", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "abnormal anatomical entity morphology in the appendage girdle complex", + "Abnormal cellular phenotype", + "Ectopic kidney", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormality of DNA repair", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal testis morphology", + "abnormal neutrophil", + "Abnormality of the skin", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormality of neutrophils", + "Abnormality of skull size", + "Hematological neoplasm", + "Abnormality of the hand", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "aplasia or hypoplasia of manual digit 1", + "Leukemia", + "entity", + "abnormally decreased number of leukocyte in the independent continuant", + "Finger aplasia", + "continuant", + "Azoospermia", + "Abnormality of brain morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal immune system", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "abnormal manus morphology", + "abnormal digit", + "Microphthalmia", + "abnormal skeletal system", + "Irregular hyperpigmentation", + "abnormal limb bone morphology", + "abnormal testis morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Abnormal nervous system physiology", + "Prolonged G2 phase of cell cycle", + "abnormal cell cycle", + "abnormality of anatomical entity physiology", + "Abnormality of globe size", + "Non-obstructive azoospermia", + "Intellectual disability", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "Neurodevelopmental abnormality", + "Abnormal heart morphology", + "abnormal male reproductive system", + "Cognitive impairment", + "Abnormality of the nervous system", + "abnormal biological_process in independent continuant", + "abnormal anatomical entity morphology in the brain", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal size of skull", + "Abnormal internal genitalia", + "Decreased head circumference", + "aplasia or hypoplasia of telencephalon", + "abnormal telencephalon morphology", + "abnormal DNA damage response", + "abnormal head morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Aplasia involving forearm bones", + "Abnormality of skin pigmentation", + "Abnormal skull morphology", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Morphological central nervous system abnormality", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "Abnormality of head or neck", + "abnormal reproductive system", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "Abnormality of the head", + "abnormal phalanx of manus morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Hyperpigmentation of the skin", + "abnormal heart morphology", + "delayed growth", + "abnormal cardiovascular system", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "abnormal skin of body", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Abnormality of cardiovascular system morphology", + "decreased size of the eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "increased pigmentation in skin of body", + "abnormal biological_process", + "abnormal integument", + "Macule", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "increased qualitatively biological_process in independent continuant", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Localized skin lesion", + "abnormal platelet", + "Cafe-au-lait spot", + "abnormal location of anatomical entity", + "abnormal bone marrow morphology", + "Hypermelanotic macule", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "increased biological_process in independent continuant", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormality of blood circulation", + "abnormally decreased number of reticulocyte", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "Pancytopenia", + "abnormal enucleated reticulocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "Abnormality of reproductive system physiology", + "abnormal craniocervical region morphology", + "anatomical entity dysfunction in independent continuant", + "Horseshoe kidney", + "absent sperm", + "abnormality of reproductive system physiology", + "Hypogonadism", + "absent kidney in the independent continuant", + "Growth abnormality", + "abnormal orbital region", + "Abnormal localization of kidney", + "Pallor", + "abnormal DNA repair", + "decreased qualitatively sensory perception of sound", + "abnormality of cardiovascular system physiology", + "Abnormality of the upper limb", + "absent anatomical entity in the renal system", + "abnormal hematopoietic system", + "Renal agenesis", + "Anemic pallor", + "aplasia or hypoplasia of radius bone", + "Abnormal erythrocyte morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "abnormal bone marrow cell morphology", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "Anemia", + "abnormal bone marrow cell", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Generalized abnormality of skin", + "abnormal internal genitalia", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell" + ], + "has_phenotype_count": 32, + "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:0009777", + "HP:0001627", + "HP:0002023", + "HP:0002984", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0001245", + "HP:0003774", + "HP:0025023" + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Absent thumb", + "Abnormal heart morphology", + "Anal atresia", + "Hypoplasia of the radius", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia" + ], + "has_phenotype_closure": [ + "HP:0012732", + "HP:0002034", + "UPHENO:0087346", + "UPHENO:0002714", + "UPHENO:0076773", + "UPHENO:0076783", + "HP:0012718", + "UPHENO:0076735", + "HP:0002589", + "UPHENO:0002725", + "HP:0011100", + "HP:0025023", + "UPHENO:0063629", + "HP:0002250", + "HP:0011024", + "HP:0012211", + "HP:0011277", + "HP:0003774", + "UPHENO:0002411", + "UPHENO:0088142", + "UPHENO:0002655", + "UPHENO:0002442", + "UPHENO:0081433", + "UPHENO:0081341", + "HP:0009127", + "HP:0003011", + "UPHENO:0063632", + "HP:0001227", + "HP:0001421", + "UPHENO:0049874", + "UPHENO:0069254", + "UPHENO:0000543", + "HP:0009826", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0087510", + "UPHENO:0081313", + "UPHENO:0087501", + "UPHENO:0086172", + "HP:0009115", + "UPHENO:0076803", + "HP:0025031", + "HP:0001510", + "UPHENO:0086201", + "HP:0000811", + "UPHENO:0074228", + "UPHENO:0001005", + "UPHENO:0002597", + "HP:0011793", + "UPHENO:0076776", + "HP:0006503", + "UPHENO:0063599", + "UPHENO:0063565", + "HP:0011017", + "UPHENO:0002839", + "BFO:0000002", + "UPHENO:0053298", + "HP:0004322", + "UPHENO:0002833", + "UPHENO:0080099", + "HP:0030680", + "UPHENO:0020584", + "HP:0002813", + "UPHENO:0046411", + "UPHENO:0080351", + "UPHENO:0002964", + "UPHENO:0005016", + "HP:0000119", + "HP:0005773", + "HP:0001155", + "UPHENO:0077426", + "UPHENO:0084771", + "HP:0005922", + "UPHENO:0008668", + "UPHENO:0018390", + "UPHENO:0084766", + "UPHENO:0021561", + "HP:0009821", + "HP:0025354", + "UPHENO:0080126", + "UPHENO:0076810", + "HP:0011844", + "UPHENO:0080079", + "HP:0009601", + "HP:0001507", + "UPHENO:0076703", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0008523", + "UPHENO:0006910", + "UPHENO:0002649", + "UPHENO:0084761", + "HP:0003026", + "HP:0009824", + "UPHENO:0084448", + "UPHENO:0086700", + "UPHENO:0081204", + "HP:0001245", + "HP:0004378", + "HP:0000001", + "UPHENO:0002896", + "UPHENO:0084829", + "HP:0001939", + "UPHENO:0001003", + "UPHENO:0012274", + "UPHENO:0086644", + "HP:0011314", + "UPHENO:0050121", + "UPHENO:0085875", + "HP:0009603", + "UPHENO:0046538", + "HP:0001167", + "HP:0040064", + "UPHENO:0076779", + "UPHENO:0050116", + "UPHENO:0049367", + "UPHENO:0068971", + "UPHENO:0078452", + "UPHENO:0001002", + "UPHENO:0080362", + "HP:0011297", + "HP:0001626", + "HP:0003220", + "UPHENO:0011498", + "UPHENO:0015280", + "UPHENO:0046540", + "UPHENO:0076740", + "UPHENO:0050113", + "HP:0034058", + "UPHENO:0086128", + "UPHENO:0049587", + "HP:0006501", + "UPHENO:0002708", + "HP:0000032", + "UPHENO:0087547", + "UPHENO:0001001", + "HP:0001197", + "UPHENO:0050021", + "HP:0045060", + "HP:0034915", + "UPHENO:0002830", + "UPHENO:0086682", + "HP:0025033", + "UPHENO:0050845", + "BFO:0000020", + "UPHENO:0081466", + "HP:0040012", + "HP:0000028", + "UPHENO:0049748", + "UPHENO:0076723", + "UPHENO:0002647", + "UPHENO:0049873", + "HP:0000083", + "UPHENO:0026506", + "HP:0000027", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0002984", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0080352", + "UPHENO:0026181", + "HP:0003241", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0076727", + "HP:0006265", + "HP:0011425", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0002595", + "UPHENO:0003055", + "HP:0011805", + "HP:0009777", + "UPHENO:0026183", + "HP:0040068", + "HP:0040070", + "UPHENO:0009382", + "UPHENO:0049990", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0088186", + "HP:0009815", + "HP:0000924", + "UPHENO:0079876", + "UPHENO:0063639", + "UPHENO:0002816", + "UPHENO:0053580", + "HP:0001172", + "HP:0000118", + "HP:0011842", + "UPHENO:0075696", + "UPHENO:0081790", + "UPHENO:0084763", + "UPHENO:0086633", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0080187", + "HP:0000812", + "HP:0040072", + "UPHENO:0081451", + "UPHENO:0087349", + "HP:0000002", + "UPHENO:0020041", + "UPHENO:0086198", + "HP:0002242", + "UPHENO:0076710", + "UPHENO:0081091", + "HP:0002973", + "UPHENO:0085874", + "UPHENO:0069294", + "UPHENO:0052778", + "HP:0011927", + "UPHENO:0076718", + "UPHENO:0075902", + "UPHENO:0046624", + "HP:0002023", + "HP:0002818", + "BFO:0000001", + "UPHENO:0002371", + "UPHENO:0086956", + "UPHENO:0002751", + "UPHENO:0079872", + "UPHENO:0012541", + "UPHENO:0002905", + "HP:0000077", + "UPHENO:0049940", + "HP:0010935", + "HP:0010944", + "UPHENO:0001072", + "UPHENO:0005651", + "UPHENO:0084132", + "UPHENO:0084124", + "HP:0008669", + "HP:0012210", + "UPHENO:0065599", + "UPHENO:0026028", + "PATO:0000001", + "UPHENO:0084834", + "HP:0010945", + "UPHENO:0080377", + "HP:0034242", + "UPHENO:0053644", + "UPHENO:0002786", + "UPHENO:0075893", + "HP:0000079", + "UPHENO:0001478", + "UPHENO:0002598", + "UPHENO:0081792", + "HP:0000126", + "UPHENO:0005597", + "UPHENO:0085194", + "HP:0004097", + "HP:0000025", + "UPHENO:0020950", + "HP:0010461", + "HP:0009380", + "UPHENO:0002378", + "HP:0100871", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0010946", + "UPHENO:0080382", + "HP:0012243", + "UPHENO:0087846", + "UPHENO:0075949", + "HP:0012874", + "UPHENO:0049970", + "UPHENO:0049701", + "UPHENO:0078729", + "UPHENO:0049985", + "UPHENO:0080369", + "UPHENO:0086023", + "UPHENO:0052178", + "UPHENO:0087802", + "UPHENO:0085873", + "UPHENO:0081755", + "UPHENO:0087006", + "HP:0011961", + "UPHENO:0050101", + "UPHENO:0082875", + "UPHENO:0046707", + "HP:0000080", + "UPHENO:0087973", + "HP:0000035", + "HP:0012622", + "HP:0000078", + "HP:0006496", + "HP:0009778", + "HP:0009623", + "UPHENO:0050108", + "HP:0000107", + "HP:0001446", + "UPHENO:0084841", + "HP:0009484", + "HP:0001627", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081423", + "HP:0034057", + "UPHENO:0081424", + "UPHENO:0002880", + "UPHENO:0075159", + "UPHENO:0000541" + ], + "has_phenotype_closure_label": [ + "Abnormal intestine morphology", + "abnormal alimentary part of gastrointestinal system", + "abnormal rectum", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormality of the gastrointestinal tract", + "Rectal atresia", + "Anorectal anomaly", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "Morphological abnormality of the gastrointestinal tract", + "rectum atresia", + "alimentary part of gastrointestinal system atresia", + "Chronic kidney disease", + "Renal insufficiency", + "Intestinal atresia", + "non-functional kidney", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "abnormality of kidney physiology", + "Small thenar eminence", + "abnormal musculature of limb", + "Abnormality of the musculature of the upper limbs", + "Abnormal palm morphology", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "Abnormality of the musculature of the hand", + "abnormal musculature", + "Abnormality of the thenar eminence", + "Abnormality of the musculature of the limbs", + "bone element hypoplasia in independent continuant", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal long bone morphology", + "abnormal radius bone morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "abnormal renal system", + "Abnormality of the anus", + "abnormally dilated renal pelvis", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormal heart morphology", + "radius bone hypoplasia", + "abnormal spatial pattern of anatomical entity", + "abnormal heart morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "absent anatomical entity in the limb", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormality of the musculature", + "abnormal digit", + "abnormal organelle organization", + "Anal atresia", + "Neoplasm", + "Cryptorchidism", + "abnormal manual digit morphology in the independent continuant", + "anatomical entity hypoplasia", + "aplasia or hypoplasia of skeleton", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of digestive system morphology", + "abnormal limb", + "anus atresia", + "Dilatation of the renal pelvis", + "Abnormality of the kidney", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "Abnormal anus morphology", + "abnormally localised anatomical entity", + "abnormal appendicular skeleton morphology", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Limb undergrowth", + "agenesis of anatomical entity", + "decreased developmental process", + "All", + "Abnormal upper limb bone morphology", + "intestine atresia", + "Proximal placement of thumb", + "abnormal digit morphology", + "abnormal manus", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal chromatin organization", + "Chromosome breakage", + "increased size of the anatomical entity in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "Renal cyst", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormality of renal system physiology", + "quality", + "Abnormal renal pelvis morphology", + "decreased length of long bone", + "Abnormality of prenatal development or birth", + "abnormal spermatogenesis", + "phenotype", + "absent digit", + "abnormal male reproductive system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal thenar eminence", + "abnormal nitrogen compound metabolic process", + "abnormal internal genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal cellular process", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "absent anatomical entity in the multicellular organism", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "aplastic anatomical entity", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal anatomical entity morphology in the palmar part of manus", + "absent manual digit", + "abnormal phenotype by ontology source", + "deviation of manual digit", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "Abnormal cellular physiology", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal cell", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", + "Abnormal testis morphology", + "abnormal anus", + "Abnormal digit morphology", + "phenotype by ontology source", + "Abnormal thumb morphology", + "Abnormality of the male genitalia", + "deviation of manual digit 1", + "abnormal limb bone morphology", + "abnormal testis morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "absent anatomical entity", + "decreased length of manual digit", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "abnormal cardiovascular system morphology", + "abnormality of multicellular organism height", + "forelimb zeugopod bone hypoplasia", + "Abnormality of the hand", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "abnormal number of anatomical enitites of type anatomical entity", + "increased size of the anatomical entity", + "abnormal limb bone", + "absent gamete", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of fingers", + "Abnormal hand morphology", + "Abnormal spermatogenesis", + "Abnormality of the musculoskeletal system", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "Short long bone", + "decreased height of the multicellular organism", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "Abnormality of body height", + "abnormal digestive system morphology", + "abnormal musculature of upper limb", + "continuant", + "Azoospermia", + "Finger aplasia", + "abnormal intestine morphology", + "aplastic manual digit 1", + "decreased qualitatively reproductive process", + "anatomical entity hypoplasia in independent continuant", + "abnormally localised testis", + "Abnormal large intestine morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormality of limb bone", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "Hydronephrosis", + "decreased length of anatomical entity", + "absent sperm in the semen", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "abnormal forelimb zeugopod bone", + "Short forearm", + "delayed biological_process", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal fetal morphology", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "decreased length of forelimb zeugopod bone", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "non-functional anatomical entity", + "aplasia or hypoplasia of radius bone", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal gamete", + "Abnormal morphology of the radius", + "abnormal gamete generation", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal size of anatomical entity", + "abnormal external genitalia", + "abnormal renal system morphology", + "Abnormal fetal genitourinary system morphology", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "Abnormality of chromosome stability", + "abnormal kidney", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "absent germ cell", + "changed biological_process rate", + "abnormal upper urinary tract", + "Abnormal renal morphology", + "Abnormality of the upper urinary tract", + "abnormal renal pelvis morphology", + "abnormal genitourinary system", + "abnormal renal pelvis", + "Fetal pyelectasis", + "abnormal late embryo", + "Abnormality of the urinary system", + "Abnormality of the genital system", + "increased size of the renal pelvis", + "Fetal ultrasound soft marker", + "abnormal number of anatomical enitites of type cell", + "abnormal multicellular organismal reproductive process", + "abnormal reproductive process", + "Abnormal internal genitalia", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal reproductive system", + "abnormal anatomical entity topology in independent continuant", + "Growth delay", + "abnormal anatomical entity length", + "Abnormal reproductive system morphology", + "Abnormal external genitalia", + "abnormal developmental process involved in reproduction", + "abnormal anatomical entity morphology in the pectoral complex", + "Functional abnormality of male internal genitalia", + "Abnormality of reproductive system physiology", + "absent anatomical entity in the semen", + "Abnormality of male external genitalia", + "Phenotypic abnormality", + "abnormal reproductive system morphology", + "decreased qualitatively developmental process", + "abnormality of internal male genitalia physiology", + "abnormal male reproductive system", + "abnormal kidney morphology", + "decreased spermatogenesis", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "abnormally localised anatomical entity in independent continuant", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal number of anatomical enitites of type sperm", + "Non-obstructive azoospermia", + "abnormal male reproductive organ morphology", + "Fetal anomaly", + "abnormal external male genitalia", + "Short finger", + "thenar eminence hypoplasia", + "decreased length of digit", + "Deviation of finger", + "abnormal manual digit 1 morphology", + "Short thumb", + "Short digit", + "Aplasia/hypoplasia involving forearm bones", + "deviation of anatomical entity", + "abnormal primary metabolic process", + "Deviation of the hand or of fingers of the hand", + "abnormal size of multicellular organism", + "decreased height of the anatomical entity", + "abnormality of anatomical entity height", + "Aplasia/hypoplasia of the extremities", + "decreased biological_process", + "Short stature", + "decreased size of the multicellular organism", + "abnormal growth", + "abnormal cardiovascular system", + "delayed growth" + ], + "has_phenotype_count": 15, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0013565", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group G", + "full_name": null, + "deprecated": null, + "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "xref": [ + "DOID:0111086", + "EFO:0009046", + "GARD:15753", + "NCIT:C125708", + "OMIM:614082" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCG", + "Fanconi Anemia, complementation group type G", + "Fanconi anaemia complementation group type G", + "Fanconi anemia complementation group G", + "Fanconi anemia complementation group type G", + "Fanconi anemia, complementation group G" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001875", + "HP:0000252", + "HP:0002863", + "HP:0001510", + "HP:0001873", + "HP:0007565", + "HP:0000568", + "HP:0001172", + "HP:0001903", + "HP:0003220", + "HP:0001909" + ], + "has_phenotype_label": [ + "Neutropenia", + "Microcephaly", + "Myelodysplasia", + "Growth delay", + "Thrombocytopenia", + "Multiple cafe-au-lait spots", + "Microphthalmia", + "Abnormal thumb morphology", + "Anemia", + "Abnormality of chromosome stability", + "Leukemia" + ], + "has_phenotype_closure": [ + "HP:0011017", + "HP:0003220", + "HP:0012130", + "UPHENO:0088162", + "HP:0001909", + "HP:0001877", + "HP:0001903", + "UPHENO:0086700", + "UPHENO:0002708", + "UPHENO:0076727", + "HP:0001155", + "UPHENO:0084766", + "HP:0001167", + "UPHENO:0086633", + "HP:0005922", + "UPHENO:0076740", + "UPHENO:0086635", + "UPHENO:0084448", + "UPHENO:0076723", + "UPHENO:0076724", + "HP:0040068", + "HP:0001172", + "UPHENO:0012541", + "UPHENO:0087924", + "HP:0100887", + "UPHENO:0075997", + "HP:0000315", + "HP:0012372", + "UPHENO:0068971", + "HP:0000271", + "UPHENO:0080209", + "UPHENO:0075219", + "UPHENO:0079876", + "UPHENO:0069523", + "UPHENO:0002905", + "HP:0012733", + "HP:0000953", + "UPHENO:0076739", + "UPHENO:0002635", + "UPHENO:0080221", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0060026", + "UPHENO:0088170", + "UPHENO:0059829", + "HP:0011355", + "UPHENO:0054970", + "UPHENO:0080377", + "HP:0001574", + "HP:0040064", + "UPHENO:0080662", + "UPHENO:0088318", + "UPHENO:0084928", + "HP:0008056", + "BFO:0000002", + "UPHENO:0085076", + "HP:0007565", + "UPHENO:0085984", + "UPHENO:0085371", + "HP:0025354", + "HP:0032251", + "UPHENO:0004459", + "HP:0020047", + "HP:0011893", + "UPHENO:0085330", + "UPHENO:0022529", + "UPHENO:0075220", + "BFO:0000001", + "UPHENO:0035025", + "UPHENO:0088321", + "HP:0001507", + "UPHENO:0085068", + "HP:0001939", + "UPHENO:0088335", + "UPHENO:0074575", + "HP:0000929", + "UPHENO:0002880", + "HP:0032309", + "HP:0002813", + "UPHENO:0020584", + "UPHENO:0076799", + "UPHENO:0006910", + "HP:0012639", + "UPHENO:0002910", + "UPHENO:0086045", + "UPHENO:0086016", + "UPHENO:0086049", + "UPHENO:0049874", + "UPHENO:0085356", + "UPHENO:0076702", + "UPHENO:0085302", + "UPHENO:0085344", + "HP:0001881", + "HP:0002817", + "HP:0000707", + "UPHENO:0088176", + "UPHENO:0002948", + "HP:0011793", + "UPHENO:0000541", + "UPHENO:0086005", + "UPHENO:0084763", + "UPHENO:0087518", + "HP:0100547", + "HP:0000118", + "UPHENO:0002830", + "UPHENO:0076675", + "UPHENO:0085042", + "UPHENO:0004523", + "HP:0002715", + "HP:0011297", + "UPHENO:0087472", + "UPHENO:0085118", + "HP:0010974", + "HP:0012443", + "PATO:0000001", + "UPHENO:0087006", + "UPHENO:0077426", + "HP:0001875", + "HP:0011844", + "UPHENO:0086172", + "UPHENO:0001005", + "HP:0007400", + "HP:0000001", + "UPHENO:0086019", + "UPHENO:0011498", + "HP:0009121", + "UPHENO:0085354", + "UPHENO:0088166", + "UPHENO:0076703", + "UPHENO:0001003", + "UPHENO:0054957", + "UPHENO:0015280", + "UPHENO:0086176", + "HP:0000478", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0074589", + "HP:0011991", + "BFO:0000020", + "HP:0002664", + "UPHENO:0002536", + "HP:0040195", + "UPHENO:0075195", + "UPHENO:0086173", + "HP:0001000", + "UPHENO:0001001", + "UPHENO:0076791", + "HP:0007364", + "HP:0002977", + "UPHENO:0087907", + "HP:0001911", + "UPHENO:0002764", + "HP:0001874", + "UPHENO:0076805", + "HP:0033127", + "UPHENO:0087123", + "UPHENO:0087089", + "HP:0011842", + "HP:0000240", + "UPHENO:0002896", + "HP:0000951", + "UPHENO:0086589", + "UPHENO:0049587", + "UPHENO:0084987", + "HP:0002011", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0020888", + "HP:0002060", + "HP:0000568", + "HP:0000152", + "HP:0001871", + "UPHENO:0075696", + "UPHENO:0074584", + "HP:0010987", + "HP:0000924", + "UPHENO:0081435", + "UPHENO:0080079", + "HP:0001873", + "HP:0000252", + "UPHENO:0003020", + "UPHENO:0002964", + "UPHENO:0001002", + "UPHENO:0002844", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0080200", + "UPHENO:0084761", + "UPHENO:0021474", + "HP:0011121", + "UPHENO:0081566", + "HP:0002863", + "UPHENO:0000543", + "HP:0004377", + "HP:0001510", + "HP:0011873", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0050008", + "UPHENO:0085405", + "HP:0011875", + "HP:0000957", + "HP:0001034", + "UPHENO:0074572" + ], + "has_phenotype_closure_label": [ + "Abnormality of metabolism/homeostasis", + "Abnormal cellular physiology", + "Abnormal erythrocyte morphology", + "abnormal manual digit 1 morphology", + "abnormal limb bone morphology", + "abnormal digit", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "abnormal limb", + "abnormal arm", + "Abnormality of the hand", + "Abnormality of limb bone", + "Abnormal digit morphology", + "Abnormal finger morphology", + "Abnormal appendicular skeleton morphology", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "Abnormal hand morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal limb morphology", + "abnormal manual digit morphology in the manus", + "Abnormality of chromosome stability", + "abnormal manus", + "abnormal forelimb morphology", + "Abnormality of the face", + "Microphthalmia", + "abnormal autopod region morphology", + "abnormal camera-type eye morphology", + "abnormal anatomical entity morphology in the manus", + "Abnormal eye morphology", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "aplasia or hypoplasia of eyeball of camera-type eye", + "changed biological_process rate in independent continuant", + "abnormal face morphology", + "increased biological_process", + "abnormal pigmentation in independent continuant", + "Hyperpigmentation of the skin", + "increased biological_process in independent continuant", + "Hypermelanotic macule", + "abnormally decreased number of anatomical entity in the independent continuant", + "Neutropenia", + "abnormal head", + "Abnormality of the upper limb", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", + "abnormal erythrocyte morphology", + "abnormally decreased number of anatomical entity", + "Abnormality of the immune system", + "Abnormal leukocyte count", + "abnormal granulocyte morphology", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormally decreased number of myeloid cell", + "abnormal central nervous system morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the integument", + "aplasia or hypoplasia of anatomical entity", + "abnormal immune system", + "abnormal anatomical entity", + "Abnormal granulocyte morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Abnormal cerebral morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of skull size", + "Abnormality of neutrophils", + "abnormally decreased number of cell in the independent continuant", + "phenotype", + "quality", + "decreased size of the eyeball of camera-type eye", + "Neoplasm by anatomical site", + "Abnormality of skin pigmentation", + "abnormal craniocervical region", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Growth abnormality", + "increased pigmentation in skin of body", + "Leukemia", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal head morphology", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "abnormal skin of body morphology", + "increased qualitatively biological_process", + "Abnormality of the skin", + "abnormal neutrophil", + "abnormal orbital region", + "Abnormal cell morphology", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "specifically dependent continuant", + "abnormal immune system morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "abnormal digit morphology", + "Thrombocytopenia", + "Abnormal forebrain morphology", + "Anemia", + "Abnormality of the head", + "abnormal phenotype by ontology source", + "abnormal growth", + "Abnormal cellular phenotype", + "Abnormal thumb morphology", + "phenotype by ontology source", + "Decreased head circumference", + "delayed growth", + "Abnormality of globe size", + "increased pigmentation", + "increased pigmentation in independent continuant", + "abnormal limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "increased qualitatively biological_process in independent continuant", + "abnormal leukocyte morphology", + "abnormally decreased number of cell", + "abnormal cell", + "Abnormal nervous system morphology", + "Cafe-au-lait spot", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic system", + "entity", + "Abnormality of blood and blood-forming tissues", + "abnormal cell morphology", + "abnormal size of skull", + "abnormal face", + "abnormally decreased number of hematopoietic cell", + "abnormal myeloid cell morphology", + "changed biological_process rate", + "abnormal forebrain morphology", + "Abnormal myeloid cell morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal neutrophil count", + "abnormal appendicular skeleton morphology", + "abnormal blood cell", + "All", + "continuant", + "abnormal craniocervical region morphology", + "abnormal size of eyeball of camera-type eye", + "Abnormal cellular immune system morphology", + "abnormal axial skeleton plus cranial skeleton morphology", + "Hematological neoplasm", + "abnormal anatomical entity morphology in the brain", + "aplasia or hypoplasia of telencephalon", + "Myelodysplasia", + "decreased size of the anatomical entity in the independent continuant", + "abnormal telencephalon morphology", + "Multiple cafe-au-lait spots", + "Abnormal leukocyte morphology", + "abnormal brain morphology", + "Abnormal skull morphology", + "Abnormality of the eye", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "Abnormality of head or neck", + "Morphological central nervous system abnormality", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "Aplasia/Hypoplasia affecting the eye", + "abnormal postcranial axial skeleton morphology", + "Neoplasm", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "decreased size of the anatomical entity", + "Abnormal granulocyte count", + "abnormally decreased number of neutrophil", + "Abnormality of the skeletal system", + "Irregular hyperpigmentation", + "abnormal skeletal system", + "abnormal biological_process in independent continuant", + "increased biological_process in skin of body", + "Abnormality of the nervous system", + "abnormal erythroid lineage cell morphology", + "abnormal skull morphology", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", + "abnormal integument", + "abnormal biological_process", + "Growth delay", + "delayed biological_process", + "Abnormality of thrombocytes", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet morphology", + "Abnormal platelet count", + "Localized skin lesion", + "abnormal platelet", + "Abnormality of skin morphology", + "Macule", + "abnormal pigmentation", + "abnormal skin of body" + ], + "has_phenotype_count": 11, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0044325", + "category": "biolink:Disease", + "name": "Fanconi anemia, complementation group W", + "full_name": null, + "deprecated": null, + "description": null, + "xref": ["OMIM:617784", "UMLS:C4521564"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["FANCW", "Fanconi anemia, complementation group W"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0009777", + "HP:0000252", + "HP:0002247", + "HP:0002984", + "HP:0002863", + "HP:0002119", + "HP:0001510", + "HP:0001511", + "HP:0001748", + "HP:0000824", + "HP:0002518", + "HP:0002308", + "HP:0031689", + "HP:0011800", + "HP:0000089", + "HP:0410049" + ], + "has_phenotype_label": [ + "Absent thumb", + "Microcephaly", + "Duodenal atresia", + "Hypoplasia of the radius", + "Myelodysplasia", + "Ventriculomegaly", + "Growth delay", + "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": [ + "HP:0000089", + "HP:0000079", + "HP:0012210", + "UPHENO:0081210", + "HP:0010935", + "HP:0000271", + "UPHENO:0081227", + "UPHENO:0081786", + "UPHENO:0087472", + "UPHENO:0002910", + "UPHENO:0087585", + "UPHENO:0088145", + "UPHENO:0084928", + "HP:0025354", + "UPHENO:0085195", + "HP:0012143", + "UPHENO:0076957", + "UPHENO:0072814", + "UPHENO:0071309", + "HP:0011282", + "UPHENO:0081601", + "HP:0001317", + "UPHENO:0086932", + "UPHENO:0087531", + "UPHENO:0021803", + "HP:0002518", + "HP:0002500", + "UPHENO:0076953", + "UPHENO:0073937", + "UPHENO:0074037", + "HP:0002438", + "HP:0002180", + "HP:0002352", + "UPHENO:0081547", + "HP:0003117", + "UPHENO:0076779", + "UPHENO:0077872", + "UPHENO:0087355", + "UPHENO:0051668", + "UPHENO:0076720", + "UPHENO:0082875", + "UPHENO:0042775", + "HP:0032367", + "UPHENO:0080221", + "UPHENO:0086735", + "UPHENO:0076287", + "UPHENO:0077889", + "HP:0011747", + "HP:0005927", + "HP:0000818", + "HP:0011793", + "UPHENO:0002833", + "UPHENO:0080099", + "HP:0007364", + "UPHENO:0081594", + "HP:0002589", + "UPHENO:0087349", + "UPHENO:0081451", + "UPHENO:0002964", + "UPHENO:0008668", + "HP:0002246", + "UPHENO:0076735", + "UPHENO:0063629", + "UPHENO:0075182", + "HP:0002308", + "UPHENO:0081566", + "UPHENO:0084761", + "HP:0003026", + "UPHENO:0080200", + "UPHENO:0063565", + "UPHENO:0001002", + "UPHENO:0075220", + "UPHENO:0086172", + "HP:0000707", + "HP:0002984", + "HP:0002817", + "HP:0000252", + "UPHENO:0081435", + "HP:0000924", + "UPHENO:0076718", + "UPHENO:0004523", + "HP:0011283", + "UPHENO:0020888", + "HP:0000234", + "UPHENO:0081598", + "UPHENO:0002896", + "HP:0000929", + "HP:0011800", + "HP:0025461", + "UPHENO:0076805", + "HP:0100763", + "UPHENO:0001001", + "UPHENO:0075195", + "UPHENO:0063639", + "UPHENO:0002808", + "UPHENO:0022529", + "UPHENO:0086700", + "UPHENO:0080187", + "HP:0410049", + "UPHENO:0020584", + "HP:0002813", + "HP:0002977", + "HP:0025033", + "UPHENO:0026028", + "PATO:0000001", + "HP:0009380", + "UPHENO:0084763", + "UPHENO:0076702", + "UPHENO:0002708", + "UPHENO:0002764", + "UPHENO:0084448", + "HP:0009824", + "UPHENO:0087501", + "BFO:0000001", + "UPHENO:0076790", + "HP:0006496", + "UPHENO:0086621", + "UPHENO:0014240", + "HP:0000001", + "UPHENO:0002830", + "HP:0100547", + "UPHENO:0002880", + "HP:0002247", + "UPHENO:0080362", + "HP:0012503", + "UPHENO:0002725", + "HP:0000830", + "HP:0012443", + "UPHENO:0076783", + "UPHENO:0026181", + "UPHENO:0026506", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "HP:0011297", + "HP:0000119", + "HP:0000152", + "UPHENO:0076799", + "UPHENO:0080126", + "HP:0000118", + "HP:0001172", + "UPHENO:0083951", + "UPHENO:0076724", + "HP:0040075", + "UPHENO:0087006", + "HP:0009799", + "HP:0000240", + "UPHENO:0063569", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0002664", + "UPHENO:0076727", + "HP:0006265", + "UPHENO:0087089", + "UPHENO:0087123", + "UPHENO:0009382", + "HP:0040070", + "UPHENO:0075902", + "UPHENO:0081436", + "UPHENO:0086771", + "UPHENO:0084771", + "HP:0005922", + "HP:0031689", + "HP:0010662", + "HP:0009601", + "HP:0001507", + "UPHENO:0075774", + "UPHENO:0087902", + "HP:0045060", + "HP:0031072", + "UPHENO:0080220", + "UPHENO:0052778", + "UPHENO:0076723", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0076740", + "HP:0011024", + "UPHENO:0071344", + "UPHENO:0081466", + "UPHENO:0046540", + "HP:0011842", + "UPHENO:0075696", + "UPHENO:0081790", + "HP:0001871", + "HP:0040195", + "UPHENO:0001005", + "UPHENO:0074228", + "HP:0031073", + "HP:0011100", + "HP:0009121", + "HP:0009115", + "HP:0000864", + "UPHENO:0011498", + "HP:0009777", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0005652", + "UPHENO:0083689", + "UPHENO:0051804", + "UPHENO:0003116", + "BFO:0000002", + "HP:0012639", + "UPHENO:0006910", + "HP:0002011", + "UPHENO:0084766", + "UPHENO:0087518", + "UPHENO:0008523", + "HP:0005561", + "UPHENO:0083952", + "UPHENO:0002678", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0059874", + "HP:0040064", + "HP:0001167", + "HP:0011844", + "UPHENO:0080079", + "UPHENO:0080393", + "HP:0001155", + "HP:0025031", + "UPHENO:0076803", + "UPHENO:0012274", + "UPHENO:0069110", + "HP:0011314", + "UPHENO:0081313", + "UPHENO:0087510", + "UPHENO:0087907", + "HP:0006501", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0076293", + "HP:0009826", + "HP:0001748", + "UPHENO:0068971", + "UPHENO:0049724", + "UPHENO:0081204", + "HP:0009821", + "HP:0005773", + "UPHENO:0080114", + "UPHENO:0005433", + "UPHENO:0020013", + "HP:0006503", + "HP:0009815", + "UPHENO:0088186", + "UPHENO:0075175", + "UPHENO:0046505", + "UPHENO:0031839", + "UPHENO:0004459", + "UPHENO:0076286", + "HP:0040072", + "HP:0002242", + "UPHENO:0081091", + "UPHENO:0079872", + "UPHENO:0002751", + "HP:0002973", + "HP:0010993", + "UPHENO:0069294", + "HP:0002818", + "UPHENO:0086956", + "UPHENO:0012541", + "HP:0007367", + "HP:0002863", + "UPHENO:0081562", + "HP:0004377", + "UPHENO:0075772", + "HP:0001511", + "UPHENO:0000543", + "HP:0002118", + "HP:0001743", + "UPHENO:0065599", + "HP:0012718", + "UPHENO:0088047", + "UPHENO:0079876", + "HP:0002119", + "UPHENO:0001440", + "UPHENO:0000541", + "UPHENO:0005642", + "HP:0002244", + "HP:0001510", + "UPHENO:0002844", + "UPHENO:0049587", + "HP:0031071", + "UPHENO:0077890", + "HP:0002597", + "UPHENO:0049874", + "UPHENO:0056059", + "UPHENO:0080382", + "UPHENO:0080377", + "HP:0000309", + "UPHENO:0085144", + "UPHENO:0050108", + "UPHENO:0078743", + "HP:0008678", + "UPHENO:0052178", + "UPHENO:0081792", + "UPHENO:0005597", + "UPHENO:0046538", + "UPHENO:0050034", + "UPHENO:0050121", + "UPHENO:0002948", + "UPHENO:0087267", + "HP:0001626", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0087940", + "UPHENO:0087339", + "UPHENO:0002819", + "HP:0002012", + "UPHENO:0014335", + "HP:0002715", + "HP:0025408", + "UPHENO:0076289", + "UPHENO:0087376", + "UPHENO:0020041", + "UPHENO:0049647", + "HP:0002060", + "HP:0000824", + "UPHENO:0051763", + "UPHENO:0001072", + "UPHENO:0076812", + "UPHENO:0077887", + "UPHENO:0080588", + "UPHENO:0087427", + "UPHENO:0002332", + "UPHENO:0087516", + "UPHENO:0081628", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0004618", + "UPHENO:0046284", + "UPHENO:0049927", + "UPHENO:0077873", + "UPHENO:0075995" + ], + "has_phenotype_closure_label": [ + "Abnormal radial ray morphology", + "Renal hypoplasia", + "abnormal kidney morphology", + "Abnormality of the urinary system", + "Abnormality of the upper urinary tract", + "Renal hypoplasia/aplasia", + "abnormal size of kidney", + "abnormal renal system", + "abnormal upper urinary tract", + "decreased size of the kidney", + "abnormal renal system morphology", + "Abnormality of the face", + "abnormal midface morphology", + "anatomical entity hypoplasia in face", + "abnormal face", + "abnormal bone marrow cell", + "Abnormal megakaryocyte morphology", + "Midface retrusion", + "abnormal bone marrow cell morphology", + "abnormal cell", + "abnormal megakaryocyte morphology", + "Megakaryocyte dysplasia", + "abnormal cerebellum morphology", + "abnormally formed anatomical entity in independent continuant", + "Abnormal hindbrain morphology", + "Cerebellar malformation", + "abnormally formed anatomical entity", + "Abnormal cerebellum morphology", + "abnormal cerebral hemisphere white matter morphology", + "Abnormal periventricular white matter morphology", + "Atrophy/Degeneration affecting the central nervous system", + "anatomical entity degeneration", + "Leukoencephalopathy", + "anatomical entity degeneration in independent continuant", + "cerebral hemisphere white matter degeneration", + "Abnormal cerebral white matter morphology", + "abnormal neuroendocrine gland morphology", + "abnormal role blood level", + "Abnormal growth hormone level", + "Abnormality of the kidney", + "decreased biological_process in pituitary gland", + "abnormal diencephalon morphology", + "abnormal hormone independent continuant level", + "decreased biological_process in multicellular organism", + "Abnormality of the anterior pituitary", + "Duodenal atresia", + "anatomical entity hypoplasia in independent continuant", + "Decreased response to growth hormone stimulation test", + "Abnormal duodenum morphology", + "abnormal digestive system", + "Aplasia/Hypoplasia of the radius", + "Abnormality of the gastrointestinal tract", + "Abnormal cell morphology", + "phenotype", + "abnormal hindbrain morphology", + "abnormal cerebral subcortex morphology", + "abnormal brain white matter morphology", + "absent digit", + "abnormal alimentary part of gastrointestinal system morphology", + "Gastrointestinal atresia", + "duodenum atresia", + "abnormal forelimb zeugopod bone", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "changed developmental process rate", + "Abnormality of the digestive system", + "abnormal closing of the anatomical entity", + "Abnormality of the nervous system", + "abnormal biological_process in independent continuant", + "abnormal kidney", + "abnormal central nervous system morphology", + "abnormal long bone morphology", + "Neoplasm", + "malformed anatomical entity", + "Morphological central nervous system abnormality", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal metencephalon morphology", + "abnormal secretion by cell", + "Abnormal skull morphology", + "decreased embryo development", + "abnormal brain morphology", + "abnormal hypothalamus-pituitary axis", + "aplasia or hypoplasia of telencephalon", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "Decreased head circumference", + "Abnormal axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "abnormal size of anatomical entity", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal skeletal system", + "Abnormality of the skeletal system", + "Abnormal midface morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "abnormal manual digit morphology in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of digestive system morphology", + "abnormal limb", + "abnormal developmental process", + "Polysplenia", + "Abnormal appendicular skeleton morphology", + "abnormal head", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormality of endocrine system physiology", + "Abnormal finger morphology", + "abnormal craniocervical region morphology", + "continuant", + "abnormal embryo development", + "Abnormality of limb bone morphology", + "Hypopituitarism", + "Abnormality of limbs", + "abnormal brain ventricle/choroid plexus morphology", + "aplastic anatomical entity", + "abnormal vasculature", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal chemical entity level", + "abnormal spleen morphology", + "Abnormality of the musculoskeletal system", + "Neurodegeneration", + "agenesis of anatomical entity", + "decreased developmental process", + "abnormal endocrine system morphology", + "All", + "Abnormal upper limb bone morphology", + "Abnormal cerebral ventricle morphology", + "decreased qualitatively biological_process", + "absent anatomical entity", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal anatomical entity morphology in the manus", + "abnormal forelimb morphology", + "abnormal small intestine", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal forebrain morphology", + "changed biological_process rate", + "abnormal pituitary gland morphology", + "Growth abnormality", + "abnormal cellular process", + "Abnormality of skull size", + "Abnormality of head or neck", + "abnormal limb morphology", + "Aplasia/hypoplasia involving the skeleton", + "Hypoplasia of the radius", + "abnormal gland morphology", + "Morphological abnormality of the gastrointestinal tract", + "decreased qualitatively biological_process in central nervous system", + "abnormal cerebral hemisphere morphology", + "alimentary part of gastrointestinal system atresia", + "abnormal adenohypophysis", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal hand morphology", + "Neoplasm by anatomical site", + "absent anatomical entity in the independent continuant", + "abnormal small intestine morphology", + "Aplasia/hypoplasia involving bones of the hand", + "bone element hypoplasia in independent continuant", + "Myelodysplasia", + "Abnormal nervous system morphology", + "abnormal limb bone", + "increased size of the anatomical entity", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal duodenum morphology", + "Phenotypic abnormality", + "increased size of the anatomical entity in independent continuant", + "changed biological_process rate in brain", + "quality", + "abnormal limb bone morphology", + "entity", + "aplasia or hypoplasia of manual digit 1", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "abnormal manus", + "abnormal size of skull", + "abnormal hormone blood level", + "abnormal digestive system morphology", + "kidney hypoplasia", + "Finger aplasia", + "abnormal localization", + "abnormal skull morphology", + "Anterior hypopituitarism", + "Abnormal thumb morphology", + "abnormal nervous system", + "abnormal secretion in independent continuant", + "decreased secretion in pituitary gland", + "Abnormal cerebral subcortex morphology", + "abnormal head morphology", + "Abnormal morphology of the radius", + "Abnormal digit morphology", + "abnormal hematopoietic system morphology", + "midface hypoplasia", + "Abnormal intestine morphology", + "Abnormal pituitary gland morphology", + "Abnormal endocrine morphology", + "absent anatomical entity in the forelimb", + "abnormal arm", + "Chiari malformation", + "Abnormality of the head", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "aplastic manual digit 1", + "abnormal intestine morphology", + "abnormal anatomical entity morphology in the brain", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "Abnormal small intestine morphology", + "Abnormality of limb bone", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "absent anatomical entity in the multicellular organism", + "aplasia or hypoplasia of manual digit", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "abnormal appendicular skeleton morphology", + "Absent thumb", + "abnormal autopod region morphology", + "abnormally increased number of spleen", + "Intestinal atresia", + "abnormal face morphology", + "Limb undergrowth", + "decreased length of long bone", + "delayed biological_process", + "Short forearm", + "Abnormal long bone morphology", + "Upper limb undergrowth", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "decreased length of anatomical entity", + "abnormal growth hormone secretion", + "abnormal bone of pectoral complex morphology", + "abnormal limb long bone morphology", + "Abnormality of the hand", + "Hematological neoplasm", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "decreased length of anatomical entity in independent continuant", + "aplasia or hypoplasia of radius bone", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal hematopoietic system", + "Abnormality of blood and blood-forming tissues", + "abnormal brain ventricle morphology", + "increased size of the brain ventricle", + "Ventriculomegaly", + "abnormal role bodily fluid level", + "abnormal biological_process", + "Growth delay", + "Supernumerary spleens", + "abnormal growth", + "abnormal digit", + "abnormal development of anatomical entity", + "decreased qualitatively developmental process", + "abnormal bone marrow morphology", + "decreased biological_process in independent continuant", + "abnormal manual digit 1 morphology", + "Intrauterine growth retardation", + "changed embryo development rate", + "Abnormal spleen morphology", + "decreased qualitatively biological_process in independent continuant", + "abnormal radius bone morphology", + "abnormal hemopoietic organ morphology", + "abnormally increased number of anatomical entity", + "abnormal spleen", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal diencephalon", + "Abnormality of the abdominal organs", + "radius bone hypoplasia", + "Abnormality of the vasculature", + "delayed growth", + "abnormal cardiovascular system", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the lymphatic system", + "abnormal genitourinary system", + "abnormal lymphatic part of lymphoid system", + "abnormal immune system", + "Short long bone", + "abnormally increased number of anatomical entity in the abdomen", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Abnormality of the immune system", + "Abnormality of the spleen", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "abnormal transport", + "abnormal endocrine system", + "decreased growth hormone secretion", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal multicellular organism chemical entity level", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal biological_process in central nervous system", + "decreased biological_process in brain", + "intestine atresia", + "Abnormal endocrine physiology", + "Abnormality of the endocrine system", + "decreased secretion in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormal response to endocrine stimulation test", + "Abnormality of the diencephalon", + "abnormal independent continuant chemical entity level", + "Abnormal circulating hormone concentration", + "abnormal role independent continuant level", + "phenotype by ontology source", + "abnormal endocrine gland morphology" + ], + "has_phenotype_count": 16, + "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", + "EFO:0009045", + "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:0009777", + "HP:0000960", + "HP:0002247", + "HP:0002984", + "HP:0000028", + "HP:0001631", + "HP:0009778", + "HP:0001873", + "HP:0000125", + "HP:0000405", + "HP:0000824", + "HP:0001511", + "HP:0008551", + "HP:0000750", + "HP:0001882", + "HP:0000252", + "HP:0000957", + "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:0001561", + "HP:0011419" + ], + "has_phenotype_label": [ + "Absent thumb", + "Sacral dimple", + "Duodenal atresia", + "Hypoplasia of the radius", + "Cryptorchidism", + "Atrial septal defect", + "Short thumb", + "Thrombocytopenia", + "Pelvic kidney", + "Conductive hearing impairment", + "Decreased response to growth hormone stimulation test", + "Intrauterine growth retardation", + "Microtia", + "Delayed speech and language development", + "Leukopenia", + "Microcephaly", + "Cafe-au-lait spot", + "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", + "Polyhydramnios", + "Placental abruption" + ], + "has_phenotype_closure": [ + "UPHENO:0005170", + "HP:0011419", + "HP:0100767", + "HP:0001561", + "UPHENO:0080351", + "UPHENO:0075159", + "UPHENO:0080352", + "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0078215", + "HP:0001159", + "UPHENO:0076747", + "HP:0004100", + "UPHENO:0078288", + "UPHENO:0078125", + "UPHENO:0069254", + "HP:0001233", + "UPHENO:0078307", + "UPHENO:0082671", + "UPHENO:0081210", + "UPHENO:0075182", + "HP:0008678", + "HP:0011403", + "HP:0001194", + "HP:0001195", + "UPHENO:0075949", + "HP:0010881", + "HP:0010948", + "UPHENO:0054299", + "UPHENO:0054261", + "UPHENO:0082794", + "UPHENO:0053208", + "UPHENO:0010795", + "HP:0001508", + "UPHENO:0082761", + "UPHENO:0088162", + "HP:0001877", + "HP:0001328", + "UPHENO:0087548", + "UPHENO:0003058", + "UPHENO:0069391", + "HP:0008736", + "HP:0000036", + "UPHENO:0081320", + "UPHENO:0063722", + "UPHENO:0085068", + 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"UPHENO:0076702", + "HP:0040075", + "HP:0025461", + "UPHENO:0051763", + "UPHENO:0087374", + "UPHENO:0083951", + "HP:0012733", + "UPHENO:0049588", + "HP:0004323", + "UPHENO:0005652", + "UPHENO:0085984", + "HP:0012503", + "UPHENO:0083952", + "HP:0008771", + "UPHENO:0049873", + "UPHENO:0002678", + "UPHENO:0046624", + "UPHENO:0011498", + "UPHENO:0077890", + "UPHENO:0076286", + "UPHENO:0049724", + "UPHENO:0080588", + "UPHENO:0077887", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "HP:0034058", + "UPHENO:0077873", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0049587", + "HP:0011747", + "HP:0009115", + "UPHENO:0004523", + "UPHENO:0002595", + "UPHENO:0079826", + "UPHENO:0077889", + "UPHENO:0050116", + "UPHENO:0076287", + "HP:0002060", + "HP:0012372", + "HP:0011452", + "UPHENO:0086735", + "UPHENO:0080221", + "HP:0032367", + "UPHENO:0087186", + "UPHENO:0081435", + "UPHENO:0020888", + "UPHENO:0075997", + "UPHENO:0042775", + "HP:0000818", + "UPHENO:0075772", + "UPHENO:0074572", + "HP:0001511", + "UPHENO:0000543", + "UPHENO:0051668", + "UPHENO:0087355", + "HP:0012243", + "UPHENO:0081547", + "UPHENO:0000541", + "UPHENO:0005642", + "HP:0001507", + "UPHENO:0080393", + "HP:0012145", + "HP:0040064", + "UPHENO:0080111", + "HP:0012759", + "UPHENO:0076730", + "UPHENO:0081119", + "UPHENO:0082129", + "UPHENO:0005986", + "HP:0000356", + "UPHENO:0085874", + "HP:0008772", + "UPHENO:0078278", + "UPHENO:0069196", + "UPHENO:0020659", + "UPHENO:0049990", + "UPHENO:0049622", + "UPHENO:0069110", + "UPHENO:0019890", + "UPHENO:0002263", + "UPHENO:0019970", + "UPHENO:0087309", + "UPHENO:0051804", + "HP:0002167", + "UPHENO:0080114", + "HP:0002463", + "HP:0000076", + "UPHENO:0049586", + "UPHENO:0002433", + "HP:0006101", + "HP:0012638", + "UPHENO:0087643", + "UPHENO:0002948", + "UPHENO:0050101", + "UPHENO:0088338", + "UPHENO:0075872", + "UPHENO:0035147", + "UPHENO:0078327", + "UPHENO:0087123", + "HP:0001631", + "UPHENO:0085410", + "UPHENO:0088319", + "UPHENO:0088321", + "HP:0002715", + "HP:0010460", + "UPHENO:0035025", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "HP:0002977", + "HP:0000812", + "UPHENO:0086635", + "HP:0000240", + "HP:0000252", + "UPHENO:0086855", + "UPHENO:0081628", + "UPHENO:0075220", + "UPHENO:0080200", + "BFO:0000020", + "UPHENO:0081566", + "HP:0000957", + "UPHENO:0074584", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0082682", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0003020", + "UPHENO:0002725", + "UPHENO:0069523", + "HP:0000125", + "UPHENO:0002910", + "HP:0000568", + "HP:0030962", + "UPHENO:0020041", + "HP:0000271", + "HP:0000478", + "HP:0100887", + "HP:0012252", + "HP:0012647", + "HP:0002090", + "HP:0012649", + "UPHENO:0086908", + "UPHENO:0076812", + "UPHENO:0074685", + "HP:0010978", + "UPHENO:0074589", + "UPHENO:0076684", + "UPHENO:0074804", + "UPHENO:0015329", + "UPHENO:0004536", + "UPHENO:0002827", + "UPHENO:0082723", + "UPHENO:0086700", + "UPHENO:0020748", + "HP:0011994", + "UPHENO:0074722", + "HP:0000707", + "UPHENO:0049748", + "UPHENO:0050021", + "HP:0000009", + "UPHENO:0050845", + "HP:0001939", + "HP:0003221", + "UPHENO:0083648", + "HP:0011017", + "HP:0010936", + "UPHENO:0002806", + "HP:0000069", + "UPHENO:0075852", + "HP:0000014", + "UPHENO:0075933", + "HP:0031073", + "UPHENO:0076765", + "HP:0025015", + "UPHENO:0086797", + "HP:0012130", + "UPHENO:0033603", + "HP:0033353", + "UPHENO:0076729", + "HP:0000830", + "HP:0001643", + "UPHENO:0087339", + "UPHENO:0063629", + "UPHENO:0085195", + "HP:0031071", + "HP:0005528" + ], + "has_phenotype_closure_label": [ + "Placental abruption", + "Abnormal placenta morphology", + "abnormal female reproductive system", + "abnormal amniotic fluid", + "Abnormality of the amniotic fluid", + "Short stature", + "abnormality of anatomical entity height", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "Abnormality of body height", + "abnormal size of multicellular organism", + "abnormal manual digit 2 morphology", + "Abnormal 2nd finger morphology", + "abnormally fused manual digit 2 and manual digit 3", + "Finger syndactyly", + "abnormally fused anatomical entity and manual digit 3", + "Syndactyly", + "abnormally fused digit and anatomical entity", + "2-3 finger syndactyly", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "abnormally fused digit and digit", + "abnormally fused anatomical entity and anatomical entity", + "abnormally fused anatomical entity and digit", + "Renal hypoplasia", + "decreased size of the kidney", + "Fetal ultrasound soft marker", + "abnormal late embryo", + "Single umbilical artery", + "abnormal umbilical cord", + "Abnormality of the umbilical cord", + "Abnormal umbilical cord blood vessel morphology", + "Decreased body weight", + "abnormality of anatomical entity mass", + "Failure to thrive", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "abnormal erythrocyte morphology", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "abnormal size of anatomical entity", + "abnormal nervous system morphology", + "Sacral dimple", + "abnormally decreased number of myeloid cell", + "Abnormal cardiac atrium morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Congenital malformation of the great arteries", + "Abnormal platelet count", + "abnormal sensory perception of sound", + "abnormal platelet morphology", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "Short digit", + "Short thumb", + "Intrauterine growth retardation", + "abnormal vascular system morphology", + "Short finger", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "abnormal cellular metabolic process", + "abnormal cardiac atrium morphology", + "abnormal hypothalamus-pituitary axis", + "abnormal cardiac septum morphology", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "abnormally localised anatomical entity", + "Abnormality of the genital system", + "abnormal male reproductive organ morphology", + "Non-obstructive azoospermia", + "Abnormal penis morphology", + "abnormal number of anatomical enitites of type sperm", + "absent sperm", + "abnormally localised anatomical entity in independent continuant", + "absent sperm in the independent continuant", + "decreased spermatogenesis", + "abnormal kidney morphology", + "abnormal male reproductive system", + "decreased qualitatively developmental process", + "abnormal ureter", + "Abnormality of male external genitalia", + "absent anatomical entity in the semen", + "abnormal axial skeleton plus cranial skeleton morphology", + "Polyhydramnios", + "abnormal anatomical entity morphology in the pectoral complex", + "Thrombocytopenia", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "Abnormal external genitalia", + "Abnormal myeloid cell morphology", + "abnormal interatrial septum morphology", + "Abnormal ear physiology", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal postcranial axial skeleton morphology", + "abnormal diencephalon", + "abnormal incomplete closing of the interatrial septum", + "penis hypoplasia", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "decreased growth hormone secretion", + "abnormally fused manual digit and anatomical entity", + "Abnormality of head or neck", + "abnormality of anatomical entity physiology", + "abnormally fused manual digit and manual digit", + "anatomical entity atresia", + "abnormal cell", + "Abnormal testis morphology", + "abnormal reproductive process", + "abnormal multicellular organismal reproductive process", + "abnormal internal genitalia", + "abnormal gamete generation", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal artery morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "abnormal incomplete closing of the ductus arteriosus", + "decreased length of anatomical entity in independent continuant", + "changed biological_process rate in independent continuant", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "abnormal lung morphology", + "decreased length of forelimb zeugopod bone", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal skeletal morphology", + "Abnormal male reproductive system physiology", + "decreased length of anatomical entity", + "abnormally decreased number of cell", + "Aplasia/hypoplasia involving forearm bones", + "Forearm undergrowth", + "abnormal growth hormone secretion", + "Abnormality of the vasculature", + "Absent thumb", + "abnormal ear", + "abnormal blood cell", + "aplasia or hypoplasia of manual digit", + "absent anatomical entity in the multicellular organism", + "decreased sensory perception of sound", + "abnormality of middle ear physiology", + "Abnormality of limb bone", + "Abnormal small intestine morphology", + "Abnormal fetal morphology", + "abnormal intestine morphology", + "Abnormal cerebral morphology", + "abnormal blood vessel morphology", + "Abnormal vascular morphology", + "abnormal arm", + "Abnormal digit morphology", + "decreased qualitatively reproductive process", + "abnormal localization", + "Language impairment", + "Anemia", + "Abnormality of the hand", + "decreased size of the external ear", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + "Microtia", + "Azoospermia", + "Aplasia/Hypoplasia of the ear", + "continuant", + "abnormal manus", + "aplasia or hypoplasia of ear", + "abnormal sensory perception", + "Abnormal fetal cardiovascular morphology", + "Cryptorchidism", + "abnormal artery morphology in the independent continuant", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "aplasia or hypoplasia of manual digit 1", + "entity", + "abnormal testis morphology", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "abnormal reproductive system morphology", + "changed biological_process rate in brain", + "abnormal blood cell morphology", + "Abnormality of the skin", + "abnormal duodenum morphology", + "abnormal anatomical entity morphology in the heart", + "abnormal external genitalia", + "Abnormal renal morphology", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "bone element hypoplasia in independent continuant", + "abnormally decreased number of anatomical entity in the blood", + "Abnormal erythroid lineage cell morphology", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "decreased length of manual digit 1", + "Aplasia/hypoplasia of the extremities", + "Atrial septal defect", + "abnormal spermatogenesis", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "Abnormal spermatogenesis", + "Abnormal morphology of the great vessels", + "decreased length of long bone", + "abnormal anatomical entity morphology in the independent continuant", + "absent manual digit", + "abnormal phenotype by ontology source", + "alimentary part of gastrointestinal system atresia", + "Morphological abnormality of the gastrointestinal tract", + "abnormal gland morphology", + "abnormal immune system morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "abnormal cardiac atrium morphology in the heart", + "delayed growth", + "Abnormality of the integument", + "absent germ cell", + "Abnormal response to endocrine stimulation test", + "Abnormality of bone marrow cell morphology", + "Short forearm", + "delayed biological_process", + "Pneumonia", + "Abnormal cardiac septum morphology", + "abnormal transport", + "Hypoplasia of the radius", + "Aplasia/hypoplasia involving the skeleton", + "abnormal limb morphology", + "abnormal skeletal system morphology", + "abnormal biological_process in central nervous system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "abnormal small intestine", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "abnormal penis", + "abnormality of ureter physiology", + "abnormal penis morphology", + "decreased length of manual digit", + "abnormal developmental process", + "abnormal hormone independent continuant level", + "decreased biological_process in independent continuant", + "absent anatomical entity", + "Abnormality of reproductive system physiology", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "Abnormality of the endocrine system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormally decreased number of anatomical entity", + "Abnormal upper limb bone morphology", + "All", + "increased qualitatively biological_process", + "decreased developmental process", + "abnormal response to stress", + "agenesis of anatomical entity", + "Skin dimple", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "abnormal ductus arteriosus morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal face morphology", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "aplastic anatomical entity", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of limbs", + "Hypopituitarism", + "Delayed speech and language development", + "Hypoplasia of penis", + "Abnormality of limb bone morphology", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "absent gamete", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Abnormal appendicular skeleton morphology", + "abnormal limb", + "abnormally fused manual digit 2 and anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal ear morphology", + "anatomical entity hypoplasia", + "Abnormality of the ureter", + "abnormal cardiac atrium morphology in the independent continuant", + "abnormal manus morphology", + "changed embryo development rate", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal digit", + "Abnormal thumb morphology", + "abnormal development of anatomical entity", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal skeletal system", + "abnormal external ear morphology", + "Microphthalmia", + "Fetal anomaly", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "radius bone hypoplasia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "Abnormal axial skeleton morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "abnormality of immune system physiology", + "abnormal vertebral column", + "Abnormality of the vertebral column", + "abnormal location of anatomical entity", + "Gastrointestinal atresia", + "Macule", + "abnormal fused sacrum morphology", + "abnormal role bodily fluid level", + "aplasia or hypoplasia of external ear", + "abnormal integument", + "Sacrococcygeal pilonidal abnormality", + "intestine atresia", + "Abnormal endocrine physiology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal forelimb zeugopod bone", + "duodenum atresia", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal male reproductive system morphology", + "phenotype", + "abnormal placenta", + "Abnormal cell morphology", + "Hypoplastic male external genitalia", + "Abnormality of the gastrointestinal tract", + "Aplasia/Hypoplasia of the radius", + "abnormal digestive system", + "decreased growth", + "increased qualitatively inflammatory response", + "Abnormal duodenum morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "Abnormal atrial septum morphology", + "abnormal heart morphology", + "aplasia or hypoplasia of radius bone", + "abnormal long bone morphology", + "abnormal opening of the anatomical entity", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "Decreased anatomical entity mass", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "Duodenal atresia", + "forelimb zeugopod bone hypoplasia", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "abnormally decreased number of leukocyte", + "Abnormality of the ear", + "Abnormal pituitary gland morphology", + "Intestinal atresia", + "abnormal radius bone morphology", + "Aplasia/Hypoplasia of the external ear", + "decreased size of the anatomical entity in the independent continuant", + "abnormal renal system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal central nervous system morphology", + "Abnormality of chromosome stability", + "Limb undergrowth", + "abnormal upper urinary tract", + "Abnormality of the eye", + "abnormality of male reproductive system physiology", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "abnormal renal system", + "Ectopic kidney", + "Abnormality of the lower urinary tract", + "Abnormal localization of kidney", + "abnormal adenohypophysis", + "Growth abnormality", + "abnormal orbital region", + "Abnormality of the kidney", + "decreased biological_process in pituitary gland", + "abnormal eyeball of camera-type eye", + "Abnormality of the upper urinary tract", + "Pelvic kidney", + "abnormality of nervous system physiology", + "Abnormal cellular physiology", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Hearing abnormality", + "abnormal anatomical entity morphology in the manus", + "abnormal role blood level", + "Conductive hearing impairment", + "abnormal middle ear", + "abnormal genitourinary system", + "changed developmental process rate", + "abnormal vasculature", + "abnormal head morphology", + "decreased vibrational conductance of sound to the inner ear", + "Abnormal forebrain morphology", + "Functional abnormality of the middle ear", + "abnormal head", + "absent anatomical entity in the forelimb", + "abnormality of ear physiology", + "abnormal ear morphology", + "abnormal endocrine system", + "absent digit", + "Respiratory tract infection", + "Neoplasm", + "Abnormal intestine morphology", + "decreased qualitatively biological_process in independent continuant", + "abnormal endocrine system morphology", + "Abnormality of the respiratory system", + "Aplasia/Hypoplasia of the thumb", + "decreased secretion in pituitary gland", + "abnormal secretion in independent continuant", + "abnormal nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal forebrain morphology", + "abnormality of reproductive system physiology", + "Abnormal heart morphology", + "Abnormality of the bladder", + "abnormal multicellular organism chemical entity level", + "abnormal pituitary gland morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal cellular process", + "Abnormal communication", + "Abnormality of brain morphology", + "abnormal bone of pectoral complex morphology", + "decreased qualitatively biological_process in central nervous system", + "decreased secretion in independent continuant", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "Abnormal endocrine morphology", + "decreased biological_process in brain", + "abnormal secretion by cell", + "abnormality of endocrine system physiology", + "Decreased response to growth hormone stimulation test", + "increased inflammatory response in lung", + "Abnormality of the diencephalon", + "abnormal behavior", + "abnormal independent continuant chemical entity level", + "Abnormality of metabolism/homeostasis", + "abnormal chemical entity level", + "abnormal inflammatory response", + "Abnormal circulating hormone concentration", + "abnormal hormone blood level", + "Abnormalities of placenta or umbilical cord", + "abnormal size of skull", + "Anterior hypopituitarism", + "decreased size of the penis", + "abnormal role independent continuant level", + "decreased size of the anatomical entity", + "Specific learning disability", + "abnormal biological_process in independent continuant", + "Abnormality of the anterior pituitary", + "quality", + "decreased biological_process in multicellular organism", + "abnormal diencephalon morphology", + "Abnormal growth hormone level", + "decreased qualitatively growth", + "abnormally decreased number of hematopoietic cell", + "Abnormal inflammatory response", + "abnormal neuroendocrine gland morphology", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "abnormal umbilical blood vessel morphology", + "decreased embryo development", + "abnormal biological_process", + "Growth delay", + "abnormal growth", + "abnormally fused anatomical entity and manual digit", + "abnormal leukocyte morphology", + "increased biological_process", + "abnormal external ear", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "external ear hypoplasia", + "Abnormal eye morphology", + "abnormal gamete", + "Abnormality of the outer ear", + "abnormal great vessel of heart morphology", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal behavior process", + "abnormal skin of body", + "Neurodevelopmental delay", + "Atypical behavior", + "abnormal closing of the anatomical entity", + "abnormal response to stimulus", + "Short long bone", + "abnormal skull morphology", + "Neurodevelopmental abnormality", + "Abnormality of speech or vocalization", + "abnormally decreased number of leukocyte in the blood", + "Abnormal leukocyte count", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal immune system", + "Leukopenia", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "Renal hypoplasia/aplasia", + "abnormal size of kidney", + "abnormal lower urinary tract", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "abnormally decreased number of cell in the independent continuant", + "Decreased head circumference", + "abnormal telencephalon morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "abnormal urinary bladder", + "Abnormal skull morphology", + "Aplasia/Hypoplasia of the cerebrum", + "aplasia or hypoplasia of eyeball of camera-type eye", + "increased pigmentation in independent continuant", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the external male genitalia", + "Abnormal ureter physiology", + "increased qualitatively biological_process in independent continuant", + "Cafe-au-lait spot", + "Abnormality of skin pigmentation", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "increased pigmentation", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Hyperpigmentation of the skin", + "abnormal size of eyeball of camera-type eye", + "abnormal face", + "Abnormality of the orbital region", + "Abnormality of the face", + "increased inflammatory response in independent continuant", + "Abnormality of the middle ear", + "abnormality of urinary bladder physiology", + "Abnormality of immune system physiology", + "Abnormal lung morphology", + "Abnormality of prenatal development or birth", + "increased inflammatory response", + "increased qualitatively response to stimulus", + "abnormal autopod region morphology", + "increased qualitatively inflammatory response in independent continuant", + "Increased inflammatory response", + "abnormal primary metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "abnormal metabolic process", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "increased biological_process in lung", + "abnormal programmed DNA elimination by chromosome breakage", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal respiratory system morphology", + "abnormal organelle organization", + "abnormal nitrogen compound metabolic process", + "Functional abnormality of the bladder", + "abnormal anatomical entity length", + "Vesicoureteral reflux", + "Abnormal pinna morphology", + "Patent ductus arteriosus", + "Abnormal blood vessel morphology", + "abnormal systemic artery morphology", + "abnormal bone marrow cell morphology", + "Bone marrow hypocellularity", + "external male genitalia hypoplasia", + "abnormal shape of continuant", + "abnormal bone marrow cell", + "abnormal embryo development", + "Microphallus", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "External genital hypoplasia" + ], + "has_phenotype_count": 34, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0013566", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group L", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCL", + "FANCL Fanconi anaemia", + "FANCL Fanconi anemia", + "Fanconi Anemia, complementation Group 50", + "Fanconi Anemia, complementation group type 50", + "Fanconi anaemia caused by mutation in FANCL", + "Fanconi anaemia complementation group type L", + "Fanconi anemia caused by mutation in FANCL", + "Fanconi anemia complementation group L", + "Fanconi anemia complementation group type L", + "Fanconi anemia, complementation group L" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0040012", + "HP:0007018", + "HP:0000582", + "HP:0008551", + "HP:0000470", + "HP:0009777", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000316", + "HP:0001510", + "HP:0001776", + "HP:0000347", + "HP:0003974", + "HP:0001511", + "HP:0009892", + "HP:0000151", + "HP:0001263", + "HP:0003221", + "HP:0002032", + "HP:0011968", + "HP:0001321", + "HP:0000175", + "HP:0000054", + "HP:0000437", + "HP:0001903", + "HP:0000122", + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089" + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Attention deficit hyperactivity disorder", + "Upslanted palpebral fissure", + "Microtia", + "Short neck", + "Absent thumb", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Hypertelorism", + "Growth delay", + "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": [ + "HP:0000089", + "UPHENO:0087355", + "UPHENO:0085195", + "UPHENO:0002948", + "UPHENO:0087278", + "HP:0000422", + "HP:0000431", + "UPHENO:0081800", + "HP:0000568", + "HP:0008056", + "UPHENO:0075219", + "UPHENO:0069523", + "UPHENO:0000552", + "UPHENO:0050372", + "HP:0012447", + "UPHENO:0050406", + "HP:0002715", + "HP:0002188", + "UPHENO:0062527", + "HP:0012448", + "UPHENO:0084007", + "UPHENO:0008593", + "HP:0000079", + "HP:0012210", + "HP:0010935", + "HP:0012130", + "UPHENO:0084928", + "HP:0001871", + "HP:0001877", + "HP:0001903", + "UPHENO:0041458", + "HP:0000366", + "HP:0000436", + "UPHENO:0088168", + "UPHENO:0082467", + "UPHENO:0002597", + "HP:0000054", + "HP:0003241", + "HP:0008736", + "UPHENO:0000553", + "UPHENO:0068843", + "UPHENO:0081095", + "HP:0000036", + "HP:5201015", + "HP:0000202", + "HP:0000174", + "UPHENO:0006147", + "UPHENO:0087585", + "UPHENO:0033572", + "UPHENO:0080089", + "HP:0001321", + "UPHENO:0068984", + "UPHENO:0087548", + "UPHENO:0033635", + "HP:0002977", + "UPHENO:0081601", + "HP:0001317", + "UPHENO:0081099", + "HP:0011458", + "HP:0011968", + "HP:0000811", + "HP:0025032", + "UPHENO:0063639", + "HP:0002589", + "UPHENO:0063603", + "HP:0003221", + "HP:0000078", + "UPHENO:0003055", + "HP:0010460", + "HP:0000151", + "UPHENO:0002598", + "UPHENO:0087974", + "UPHENO:0020950", + "UPHENO:0009305", + "UPHENO:0087339", + "UPHENO:0026954", + "UPHENO:0026984", + "UPHENO:0025708", + "HP:0008678", + "UPHENO:0052178", + "HP:0012145", + "UPHENO:0080393", + "UPHENO:0075902", + "UPHENO:0081436", + "UPHENO:0085144", + "HP:0000309", + "UPHENO:0050108", + "UPHENO:0005642", + "UPHENO:0080382", + "UPHENO:0052778", + "HP:0000437", + "UPHENO:0002751", + "UPHENO:0079872", + "HP:0009822", + "UPHENO:0086956", + "UPHENO:0076718", + 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"UPHENO:0049586", + "UPHENO:0087806", + "UPHENO:0074584", + "UPHENO:0026181", + "UPHENO:0080165", + "HP:0002921", + "UPHENO:0081210", + "HP:0001883", + "UPHENO:0087563", + "HP:0100887", + "UPHENO:0005170", + "UPHENO:0003074", + "UPHENO:0068971", + "HP:0012759", + "UPHENO:0080111", + "UPHENO:0075195", + "HP:0011793", + "UPHENO:0069196", + "UPHENO:0049990", + "UPHENO:0082682", + "HP:0005105", + "UPHENO:0000541", + "UPHENO:0076785", + "HP:0000752", + "UPHENO:0005597", + "UPHENO:0081792", + "UPHENO:0087478", + "UPHENO:0086595", + "HP:0000492", + "UPHENO:0001002", + "UPHENO:0087924", + "UPHENO:0020584", + "HP:0002813", + "HP:0000271", + "HP:0011283", + "UPHENO:0075997", + "UPHENO:0082129", + "HP:0008050", + "UPHENO:0005016", + "HP:0000119", + "UPHENO:0026128", + "HP:0000152", + "HP:0000315", + "UPHENO:0005986", + "HP:0001574", + "UPHENO:0021304", + "HP:0032039", + "UPHENO:0041041", + "UPHENO:0087006", + "UPHENO:0085118", + "UPHENO:0080196", + "HP:0000001", + "HP:0007400", + "HP:0008772", + "HP:0001939", + "UPHENO:0031839", + "UPHENO:0001003", + "HP:0000153", + "HP:0006265", + "UPHENO:0084012", + "UPHENO:0041098", + "UPHENO:0003085", + "UPHENO:0087089", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0050845", + "HP:0011282", + "UPHENO:0074589", + "HP:0012638", + "UPHENO:0041080", + "UPHENO:0001005", + "UPHENO:0003058", + "HP:0000925", + "HP:5200044", + "HP:0009115", + "UPHENO:0080079", + "HP:0011844", + "HP:0003220", + "UPHENO:0012541", + "UPHENO:0080585", + "UPHENO:0069110", + "UPHENO:0086699", + "UPHENO:0086700", + "HP:0011017", + "HP:0006501", + "UPHENO:0087907", + "HP:0012252", + "UPHENO:0084457", + "UPHENO:0002828", + "HP:0000951", + "HP:0030791", + "UPHENO:0002844", + "UPHENO:0049587", + "UPHENO:0088170", + "UPHENO:0087547", + "UPHENO:0001001", + "HP:0000470", + "HP:0200006", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0080209", + "UPHENO:0087802", + "HP:0001000", + "HP:0000812", + "HP:0002778", + "HP:0007018", + "UPHENO:0050021", + "HP:0000598", + "BFO:0000001", + "UPHENO:0002910", + "UPHENO:0049748", + "UPHENO:0055730", + "UPHENO:0076723", + "UPHENO:0080171", + "HP:0000582", + "HP:0001263", + "UPHENO:0009396", + "HP:0008517", + "HP:0005561", + "UPHENO:0083952", + "UPHENO:0049873", + "UPHENO:0002934", + "UPHENO:0004536", + "HP:0009122", + "UPHENO:0004523", + "UPHENO:0046571", + "HP:0001172", + "HP:0000118", + "HP:0011446", + "UPHENO:0087374", + "UPHENO:0076752", + "HP:0001760", + "UPHENO:0072195", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0000104", + "UPHENO:0050113", + "HP:0000008", + "UPHENO:0015280", + "UPHENO:0004459", + "UPHENO:0054957", + "UPHENO:0061854", + "HP:0008684", + "HP:0009777", + "UPHENO:0087427", + "UPHENO:0002332", + "HP:0031703", + "HP:0008771", + "UPHENO:0002764", + "HP:0025354", + "BFO:0000002", + "HP:0000736", + "HP:0012639", + "UPHENO:0076720", + "HP:0000708", + "UPHENO:0082875", + "UPHENO:0087846", + "UPHENO:0056237", + "UPHENO:0049622", + "HP:0000464", + "HP:0011400", + "HP:0000175", + "UPHENO:0081783", + "UPHENO:0086824", + "UPHENO:0086172", + "HP:0000707", + "HP:0002817", + "HP:0000163", + "UPHENO:0002433", + "HP:0009121", + "UPHENO:0081435", + "UPHENO:0021791", + "UPHENO:0080662", + "UPHENO:0087510", + "UPHENO:0018424", + "HP:0000357", + "HP:5200045", + "UPHENO:0080110", + "HP:0005528", + "UPHENO:0076761", + "UPHENO:0020659", + "UPHENO:0002896", + "UPHENO:0080300", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0003811", + "UPHENO:0081598", + "UPHENO:0002880", + "UPHENO:0002830", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0083951", + "UPHENO:0026023", + "HP:0012733", + "HP:0010938", + "UPHENO:0087643", + "UPHENO:0072194", + "UPHENO:0075878", + "HP:0006496", + "HP:0000356", + "UPHENO:0014240", + "HP:0002031", + "UPHENO:0084448", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0076740", + "UPHENO:0076760", + "HP:0011024", + "UPHENO:0018414", + "UPHENO:0084763", + "UPHENO:0076779", + "UPHENO:0088185", + "UPHENO:0011498", + "HP:0040012", + "UPHENO:0081466", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0087816", + "UPHENO:0086633", + "HP:0045060", + "UPHENO:0006910", + "HP:0040064", + "HP:0001167", + "HP:0003319", + "HP:0009601", + "PATO:0000001", + "UPHENO:0026028", + "UPHENO:0080126", + "UPHENO:0084766", + "HP:0008551", + "HP:0005922", + "UPHENO:0008668", + "UPHENO:0079826", + "UPHENO:0018390", + "UPHENO:0088186", + "UPHENO:0002901", + "HP:0009815", + "UPHENO:0049700", + "HP:0005927", + "UPHENO:0081585", + "UPHENO:0076727", + "UPHENO:0081119", + "UPHENO:0018426", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0002833", + "UPHENO:0079876", + "UPHENO:0076695", + "UPHENO:0054970", + "UPHENO:0081328", + "HP:0034261", + "HP:0005107", + "UPHENO:0069391", + "HP:0008518", + "HP:0025461", + "UPHENO:0076805", + "HP:0030669", + "HP:0004590", + "HP:0025033", + "UPHENO:0088162", + "HP:0000953", + "HP:0012243", + "HP:0005607", + "UPHENO:0087433", + "UPHENO:0002725", + "HP:0000050", + "UPHENO:0076735", + "UPHENO:0088047", + "HP:0012718", + "UPHENO:0002635", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0026980", + "UPHENO:0056212", + "HP:0000130", + "UPHENO:0020748", + "HP:0000347", + "HP:0025031", + "HP:0000377", + "UPHENO:0076803", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "HP:0009380", + "HP:0002086", + "UPHENO:0060026", + "HP:0007360", + "UPHENO:0076766", + "UPHENO:0076702", + "HP:0012443", + "UPHENO:0006161", + "HP:0002118", + "UPHENO:0087430", + "UPHENO:0056333", + "HP:0001511", + "UPHENO:0000543", + "UPHENO:0081784", + "HP:0009823", + "HP:0000957", + "HP:0001034", + "UPHENO:0002907", + "HP:0002011", + "UPHENO:0074575", + "HP:0002692", + "UPHENO:0076730", + "UPHENO:0050121", + "UPHENO:0074572", + "UPHENO:0008523", + "UPHENO:0050008", + "UPHENO:0025875", + "UPHENO:0080377", + "BFO:0000020", + "UPHENO:0059829", + "UPHENO:0080221", + "UPHENO:0025100", + "HP:0025668", + "UPHENO:0076739" + ], + "has_phenotype_closure_label": [ + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of the immune system", + "abnormal immune system", + "abnormal bone marrow cell morphology", + "increased width of the anatomical entity in independent continuant", + "increased width of anatomical entity", + "Abnormal nasal bridge morphology", + "abnormal size of eyeball of camera-type eye", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal myelination", + "delayed central nervous system myelination", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "delayed biological_process in independent continuant", + "Renal hypoplasia/aplasia", + "absent kidney", + "abnormal renal system", + "absent kidney in the independent continuant", + "Unilateral renal agenesis", + "abnormal renal system morphology", + "Abnormality of blood and blood-forming tissues", + "abnormal bone marrow cell", + "Anemia", + "Abnormal myeloid cell morphology", + "Renal agenesis", + "abnormal hematopoietic system", + "abnormal hematopoietic cell morphology", + "abnormal external nose morphology", + "abnormal myelination", + "abnormal erythrocyte morphology", + "Depressed nasal tip", + "abnormal nose", + "Abnormal nasal tip morphology", + "abnormal nose morphology", + "Abnormality of male external genitalia", + "abnormal external male genitalia", + "abnormal male reproductive organ morphology", + "decreased size of the penis", + "abnormal male reproductive system", + "penis hypoplasia", + "Abnormality of globe size", + "Abnormal penis morphology", + "Abnormal external genitalia", + "Micropenis", + "abnormal male reproductive system morphology", + "abnormal external male genitalia morphology", + "Bone marrow hypocellularity", + "external male genitalia hypoplasia", + "External genital hypoplasia", + "Abnormal palate morphology", + "abnormal midface morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal incomplete closing of the secondary palate", + "Craniofacial cleft", + "abnormal oral cavity morphology", + "abnormal opening of the anatomical entity", + "abnormal cerebellum morphology", + "Abnormality of the male genitalia", + "decreased size of the cerebellum", + "Abnormal hindbrain morphology", + "Aplasia/Hypoplasia of the cerebellum", + "abnormal anatomical entity morphology in the brain", + "Abnormal cerebellum morphology", + "abnormality of digestive system physiology", + "Abnormality of digestive system physiology", + "Wide nasal bridge", + "Abdominal symptom", + "alimentary part of gastrointestinal system atresia", + "Neurodevelopmental abnormality", + "Neurodevelopmental delay", + "Abnormality of the uterus", + "aplasia or hypoplasia of uterus", + "Abnormality of the genital system", + "abnormal female reproductive organ morphology", + "abnormal internal female genitalia morphology", + "Aplasia of the uterus", + "Abnormality of the genitourinary system", + "Abnormal morphology of female internal genitalia", + "abnormal female reproductive system", + "Aplasia/hypoplasia of the uterus", + "absent anatomical entity in the reproductive system", + "abnormal female reproductive system morphology", + "absent uterus", + "absent external ear in the independent continuant", + "Anotia", + "decreased developmental process", + "abnormal developmental process", + "decreased embryo development", + "aplasia or hypoplasia of cerebellum", + "changed developmental process rate", + "Abnormal upper limb bone morphology", + "Abnormal erythrocyte morphology", + "aplasia or hypoplasia of radius bone", + "abnormal nose tip morphology", + "Aplasia/hypoplasia involving forearm bones", + "abnormal long bone morphology", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "absent anatomical entity in the skeletal system", + "Abnormal morphology of the radius", + "absent radius bone in the forelimb", + "Global developmental delay", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the radius", + "Absent radius", + "Aplasia/Hypoplasia involving bones of the skull", + "aplasia or hypoplasia of mandible", + "shape nose tip", + "anatomical entity hypoplasia in face", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal axon ensheathment in central nervous system in independent continuant", + "Abnormal jaw morphology", + "bone element hypoplasia in face", + "cerebellum hypoplasia", + "Abnormal skull morphology", + "Abnormality of the mouth", + "abnormal embryo development", + "abnormal mouth morphology", + "abnormal jaw skeleton morphology", + "abnormal head bone morphology", + "abnormal facial skeleton morphology", + "abnormal genitourinary system", + "Abnormal foot morphology", + "Bilateral talipes equinovarus", + "Talipes equinovarus", + "Abnormality of the lower limb", + "delayed growth", + "abnormal growth", + "delayed biological_process", + "Growth delay", + "increased anatomical entity length in independent continuant", + "absent external ear", + "abnormal location of eyeball of camera-type eye", + "Abnormality of the urinary system", + "increased length of the anatomical entity", + "abnormal nasal bridge morphology", + "Hypertelorism", + "abnormal upper urinary tract", + "curvature anatomical entity", + "abnormal pes morphology", + "Abnormality of the eye", + "Abnormality of the kidney", + "abnormal eyeball of camera-type eye", + "Esophageal atresia", + "increased size of the anatomical entity in independent continuant", + "absent anatomical entity", + "aplasia or hypoplasia of anatomical entity", + "curvature anatomical entity in independent continuant", + "decreased qualitatively developmental process", + "abnormal external ear morphology", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of the mandible", + "Aplasia/hypoplasia involving bones of the extremities", + "agenesis of anatomical entity", + "abnormal digit morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal neck morphology", + "Aplasia/Hypoplasia of the ear", + "abnormal forelimb morphology", + "Abnormality of the musculoskeletal system", + "Cafe-au-lait spot", + "Orofacial cleft", + "Morphological abnormality of the gastrointestinal tract", + "aplasia or hypoplasia of manual digit 1", + "abnormal vertebral column", + "fused sacrum hypoplasia", + "abnormal axial skeleton plus cranial skeleton morphology", + "aplastic forelimb zeugopod bone", + "aplasia or hypoplasia of fused sacrum", + "decreased size of the anatomical entity", + "Abnormal midface morphology", + "Abnormal mandible morphology", + "absent anatomical entity in the limb", + "aplasia or hypoplasia of ear", + "Microphthalmia", + "Abnormal neck morphology", + "abnormal skeletal system", + "Abnormal pinna morphology", + "abnormal hindlimb morphology", + "increased pigmentation in skin of body", + "Abnormality of the ear", + "changed embryo development rate", + "Intrauterine growth retardation", + "abnormal manual digit 1 morphology", + "abnormal fused sacrum morphology", + "Abnormal axial skeleton morphology", + "Abnormal facial skeleton morphology", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "abnormal skull morphology", + "abnormal response to stimulus", + "abnormal manual digit morphology in the independent continuant", + "decreased size of the kidney", + "Abnormal eye morphology", + "external ear hypoplasia", + "Hypoplastic sacrum", + "Abnormality of the respiratory system", + "shape anatomical entity in independent continuant", + "anatomical entity hypoplasia in independent continuant", + "esophagus atresia", + "absent radius bone", + "anatomical entity hypoplasia", + "flattened anatomical entity in independent continuant", + "abnormal palpebral fissure", + "absent anatomical entity in the head", + "decreased biological_process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia of the extremities", + "abnormal external ear", + "Talipes", + "abnormal cerebrospinal fluid morphology", + "decreased length of anatomical entity", + "abnormal radius bone morphology", + "Aplasia/Hypoplasia of the external ear", + "Abnormality of the face", + "Abnormal anus morphology", + "abnormal erythroid lineage cell morphology", + "abnormal shape of continuant", + "Growth abnormality", + "abnormal orbital region", + "flat nose tip", + "Micrognathia", + "Abnormality of the skeletal system", + "Abnormality of the ocular adnexa", + "Abnormality of mental function", + "abnormal chromatin organization", + "Chromosome breakage", + "kidney hypoplasia", + "Finger aplasia", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "quality", + "abnormal nitrogen compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormal cell morphology", + "Hypoplastic male external genitalia", + "phenotype", + "absent external ear in the head", + "decreased length of neck", + "abnormal central nervous system myelination in independent continuant", + "abnormal internal genitalia", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "Abnormal reproductive system morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "decreased size of the external male genitalia", + "decreased size of the anatomical entity in the independent continuant", + "Abnormality of the palpebral fissures", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal snout morphology", + "abnormal face", + "abnormal metabolic process", + "Abnormal forearm morphology", + "decreased size of the mandible", + "abnormal anatomical entity", + "Abnormality of the outer ear", + "continuant", + "abnormal craniocervical region morphology", + "abnormal leg", + "Attention deficit hyperactivity disorder", + "abnormal digestive system", + "abnormal integument", + "Morphological central nervous system abnormality", + "abnormal behavior process", + "Abnormality of the nose", + "abnormal brain ventricle morphology", + "abnormal neck", + "Atypical behavior", + "absent manual digit", + "abnormal phenotype by ontology source", + "Abnormality of limb bone morphology", + "Hypoplasia of penis", + "Abnormality of limbs", + "abnormal mandible morphology", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the head", + "abnormal anus", + "Abnormality of the female genitalia", + "abnormal primary metabolic process", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "abnormal organelle organization", + "Abnormal CNS myelination", + "abnormal development of anatomical entity", + "abnormal digit", + "Positional foot deformity", + "Abnormal cerebral ventricle morphology", + "abnormal cellular process", + "abnormal biological_process in central nervous system", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Slanting of the palpebral fissure", + "increased width of nasal bridge", + "Abnormal tracheobronchial morphology", + "abnormal biological_process", + "aplasia or hypoplasia of external ear", + "abnormal cell", + "abnormal limb morphology", + "abnormal reproductive system", + "Abnormality of head or neck", + "entity", + "abnormal anatomical entity morphology in the appendage girdle complex", + "absent radius bone in the independent continuant", + "Upslanted palpebral fissure", + "Abnormal cellular phenotype", + "Irregular hyperpigmentation", + "Hydrocephalus", + "abnormal behavior", + "Abnormality of digestive system morphology", + "abnormal limb", + "mandible hypoplasia", + "Microtia", + "phenotype by ontology source", + "Abnormal thumb morphology", + "abnormal size of kidney", + "Abnormal eyelid morphology", + "abnormal head", + "abnormally increased number of anatomical entity in the independent continuant", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "abnormal face morphology", + "abnormal digestive system morphology", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal nervous system", + "Neoplasm", + "Anal atresia", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal hematopoietic system morphology", + "Aplasia/Hypoplasia affecting the eye", + "Abnormal nervous system physiology", + "Feeding difficulties", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal esophagus morphology", + "Abnormal internal genitalia", + "abnormal eyelid morphology", + "Abnormality of the nervous system", + "delayed biological_process in central nervous system", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", + "Absent forearm bone", + "abnormal ocular adnexa morphology", + "flattened anatomical entity", + "Aplasia involving forearm bones", + "Abnormality of globe location", + "Abnormality of skin pigmentation", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "Abnormality of the orbital region", + "absent anatomical entity in the multicellular organism", + "decreased size of the eyeball of camera-type eye", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "aplasia or hypoplasia of vertebral column", + "flat anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "abnormal penis morphology", + "abnormal roof of mouth morphology", + "abnormal anatomical entity morphology in the manus", + "Abnormal appendicular skeleton morphology", + "abnormal cervical vertebra", + "aplastic manual digit 1", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal digit morphology", + "abnormal ear", + "abnormal autopod region morphology", + "Absent thumb", + "aplastic anatomical entity", + "abnormal bone of pectoral complex morphology", + "abnormal cellular metabolic process", + "abnormal respiratory system", + "Abnormality of limb bone", + "flat anatomical entity in independent continuant", + "absent anatomical entity in the forelimb", + "abnormal arm", + "absent anatomical entity in the renal system", + "Abnormality of the upper limb", + "Abnormal nasal morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal erythroid lineage cell morphology", + "bone element hypoplasia in independent continuant", + "Delayed CNS myelination", + "Hyperactivity", + "aplasia or hypoplasia of manual digit", + "abnormal appendicular skeleton morphology", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "abnormal trachea morphology", + "shape anatomical entity", + "Abnormal respiratory system morphology", + "Aplasia/Hypoplasia of facial bones", + "decreased size of the external ear", + "Abnormality of the hand", + "Aplasia/Hypoplasia of the thumb", + "absent anatomical entity in the ear", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "abnormal mouth", + "Abnormal ear morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal manus morphology", + "abnormal secondary palate morphology", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "Cerebellar hypoplasia", + "Abnormal metencephalon morphology", + "Aplasia/Hypoplasia of the sacrum", + "Abnormal sacrum morphology", + "Abnormality of the neck", + "abnormal vertebral column morphology", + "Abnormal external nose morphology", + "Aplasia/Hypoplasia involving the vertebral column", + "Low-set ears", + "Tracheoesophageal fistula", + "abnormally increased number of anatomical entity", + "abnormal respiratory system morphology", + "increased length of the anatomical line between pupils", + "Abnormality of the digestive system", + "Abnormal esophagus morphology", + "abnormal myelination in independent continuant", + "Aplasia involving bones of the extremities", + "All", + "increased qualitatively biological_process", + "aplasia or hypoplasia of skull", + "abnormal skin of body morphology", + "Abnormal tracheal morphology", + "absent forelimb zeugopod bone", + "abnormal respiratory tube morphology", + "delayed myelination", + "Chromosomal breakage induced by crosslinking agents", + "abnormal tracheobronchial tree morphology", + "abnormal biological_process in nervous system", + "abnormal alimentary part of gastrointestinal system", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "increased size of the anatomical entity", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Delayed myelination", + "abnormal brain morphology", + "Abnormality of brain morphology", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal central nervous system myelination", + "abnormal closing of the anatomical entity", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Abnormal cerebrospinal fluid morphology", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "abnormal ocular adnexa", + "abnormal location of ear", + "Decreased external ear position", + "abnormal anatomical entity topology in independent continuant", + "Reduced impulse control", + "Short attention span", + "abnormal location of external ear", + "Abnormal location of ears", + "abnormal ear morphology", + "Decreased anatomical entity position", + "Abnormality of the gastrointestinal tract", + "Webbed neck", + "Gastrointestinal atresia", + "Abnormality of the vertebral column", + "Macule", + "Abnormal oral morphology", + "increased pigmentation in independent continuant", + "increased pigmentation", + "abnormal pigmentation", + "Renal hypoplasia", + "increased qualitatively biological_process in independent continuant", + "Abnormality of bone marrow cell morphology", + "Abnormality of the integument", + "abnormal skin of body", + "Cleft palate", + "Abnormal hand morphology", + "Localized skin lesion", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "Hypermelanotic macule", + "absent kidney in the renal system", + "Aplasia/hypoplasia involving bones of the upper limbs", + "increased biological_process in independent continuant", + "Hyperpigmentation of the skin", + "abnormal penis", + "abnormal uterus", + "Abnormality of the skin", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "Short neck", + "abnormal pigmentation in independent continuant", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "Abnormality of the anus" + ], + "has_phenotype_count": 36, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0014638", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group T", + "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"], + "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" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0004808", + "HP:0001876", + "HP:0001873", + "HP:0009778", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0010628" + ], + "has_phenotype_label": [ + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", + "Short thumb", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Facial palsy" + ], + "has_phenotype_closure": [ + "HP:0012638", + "UPHENO:0002433", + "HP:0010827", + "HP:0000271", + "UPHENO:0076772", + "UPHENO:0078730", + "HP:0011804", + "HP:0010628", + "UPHENO:0004508", + "HP:0000301", + "UPHENO:0003587", + "UPHENO:0076722", + "UPHENO:0081709", + "UPHENO:0087907", + "UPHENO:0080556", + "HP:0410008", + "HP:0000759", + "UPHENO:0076702", + "HP:0003011", + "HP:0000364", + "UPHENO:0002903", + "UPHENO:0052178", + "HP:0012639", + "UPHENO:0050625", + "HP:0000152", + "UPHENO:0052970", + "UPHENO:0002764", + "UPHENO:0080377", + "UPHENO:0002332", + "UPHENO:0005433", + "HP:0006824", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0002240", + "HP:0031704", + "HP:0000002", + "UPHENO:0081424", + "UPHENO:0081423", + "HP:0011017", + "HP:0030319", + "UPHENO:0078606", + "HP:0003221", + "UPHENO:0049587", + "UPHENO:0050116", + "HP:0001939", + "UPHENO:0050021", + "UPHENO:0050121", + "UPHENO:0049990", + "HP:0001510", + "UPHENO:0049873", + "UPHENO:0002816", + "UPHENO:0049700", + "HP:0040012", + "UPHENO:0050113", + "HP:0003220", + "HP:0012130", + "UPHENO:0088162", + "HP:0001903", + "UPHENO:0088170", + "UPHENO:0004523", + "UPHENO:0079872", + "UPHENO:0086956", + "UPHENO:0020041", + "HP:0009942", + "HP:0005918", + "UPHENO:0087369", + "UPHENO:0085302", + "UPHENO:0001001", + "UPHENO:0002708", + "UPHENO:0080079", + "HP:0011873", + "HP:0005922", + "HP:0033127", + "UPHENO:0085984", + "UPHENO:0049748", + "UPHENO:0076723", + "HP:0009815", + "HP:0031910", + "UPHENO:0012541", + "UPHENO:0011498", + "UPHENO:0085371", + "HP:0025354", + "HP:0001876", + "UPHENO:0084987", + "HP:0011314", + "UPHENO:0012274", + "HP:0000234", + "UPHENO:0080114", + "UPHENO:0085068", + "UPHENO:0080555", + "UPHENO:0086700", + "UPHENO:0006910", + "UPHENO:0085144", + "HP:0009142", + "UPHENO:0002910", + "HP:0009602", + "UPHENO:0086045", + "UPHENO:0075696", + "HP:0001871", + "UPHENO:0081700", + "UPHENO:0046505", + "HP:0012145", + "UPHENO:0075159", + "UPHENO:0087339", + "UPHENO:0015280", + "UPHENO:0076740", + "UPHENO:0063722", + "HP:0001872", + "HP:0005927", + "UPHENO:0000543", + "HP:0004377", + "UPHENO:0085344", + "HP:0001881", + "UPHENO:0049874", + "UPHENO:0086049", + "HP:0000924", + "HP:0010987", + "HP:0001877", + "HP:0001909", + "HP:0045010", + "HP:0001324", + "HP:0002488", + "HP:0002664", + "UPHENO:0050845", + "BFO:0000020", + "HP:0011842", + "UPHENO:0087123", + "HP:0006265", + "UPHENO:0076727", + "BFO:0000001", + "HP:0009997", + "HP:0001873", + "HP:0006496", + "HP:0032251", + "UPHENO:0080352", + "UPHENO:0076692", + "UPHENO:0085070", + "UPHENO:0002844", + "UPHENO:0001002", + "HP:0005528", + "HP:0011793", + "UPHENO:0002948", + "UPHENO:0001005", + "HP:0040064", + "UPHENO:0000541", + "UPHENO:0086005", + "UPHENO:0086635", + "HP:0000118", + "UPHENO:0076710", + "HP:0001172", + "HP:0011805", + "UPHENO:0082875", + "HP:0004322", + "UPHENO:0046707", + "UPHENO:0079876", + "UPHENO:0001003", + "UPHENO:0004459", + "UPHENO:0031839", + "BFO:0000002", + "UPHENO:0052231", + "UPHENO:0002536", + "HP:0001291", + "UPHENO:0021800", + "HP:0045060", + "HP:0011799", + "HP:0004808", + "UPHENO:0084928", + "UPHENO:0002320", + "UPHENO:0087355", + "HP:0005561", + "HP:0025461", + "UPHENO:0085189", + "UPHENO:0069254", + "UPHENO:0076718", + "UPHENO:0046624", + "HP:0000001", + "PATO:0000001", + "UPHENO:0050620", + "HP:0002715", + "UPHENO:0076703", + "UPHENO:0088166", + "HP:0011875", + "UPHENO:0002964", + "UPHENO:0080099", + "UPHENO:0080351", + "UPHENO:0046411", + "HP:0002813", + "UPHENO:0020584", + "HP:0020047", + "HP:0011893", + "UPHENO:0086173", + "UPHENO:0002908", + "UPHENO:0075195", + "HP:0011927", + "HP:0004275", + "UPHENO:0085118", + "HP:0011297", + "UPHENO:0005116", + "HP:0040070", + "HP:0040068", + "UPHENO:0085195", + "HP:0009381", + "UPHENO:0076724", + "UPHENO:0002880", + "UPHENO:0076675", + "UPHENO:0002830", + "UPHENO:0068971", + "UPHENO:0002905", + "UPHENO:0086589", + "UPHENO:0002896", + "HP:0000365", + "UPHENO:0084448", + "UPHENO:0084763", + "HP:0009778", + "UPHENO:0084761", + "UPHENO:0088186", + "UPHENO:0086633", + "HP:0001167", + "HP:0001507", + "HP:0009601", + "UPHENO:0080126", + "UPHENO:0084766", + "UPHENO:0077426", + "UPHENO:0087006", + "HP:0001155", + "HP:0000707", + "HP:0002817", + "UPHENO:0086172", + "HP:0011844", + "HP:0009115", + "UPHENO:0087501", + "UPHENO:0084447" + ], + "has_phenotype_closure_label": [ + "Abnormality of the nervous system", + "Abnormality of the seventh cranial nerve", + "abnormal cranial nerve morphology", + "paralysed anatomical entity", + "Abnormal skeletal muscle morphology", + "Abnormal muscle physiology", + "Abnormality of facial musculature", + "abnormality of cranial nerve physiology", + "abnormal facial muscle", + "abnormal facial nerve", + "abnormal muscle organ morphology", + "Abnormality of the peripheral nervous system", + "abnormal head morphology", + "Cranial nerve paralysis", + "decreased anatomical entity strength", + "Abnormal nervous system physiology", + "Abnormal nervous system morphology", + "Abnormal peripheral nerve morphology by anatomical site", + "Facial palsy", + "abnormal ear", + "decreased qualitatively sensory perception of sound", + "decreased sensory perception of sound", + "Abnormality of head or neck", + "decreased biological_process", + "abnormal craniocervical region", + "abnormality of anatomical entity physiology", + "Hearing abnormality", + "Hearing impairment", + "delayed growth", + "abnormal growth", + "Abnormal peripheral nervous system morphology", + "decreased size of the multicellular organism", + "delayed biological_process", + "abnormality of muscle organ physiology", + "Growth delay", + "abnormality of anatomical entity height", + "abnormality of multicellular organism height", + "decreased height of the anatomical entity", + "abnormal size of multicellular organism", + "abnormal nitrogen compound metabolic process", + "Chromosome breakage", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Abnormal cranial nerve morphology", + "abnormal peripheral nervous system morphology", + "abnormal biological_process", + "abnormal primary metabolic process", + "abnormality of ear physiology", + "Abnormality of metabolism/homeostasis", + "abnormal cellular metabolic process", + "Abnormality of the head", + "Anemia", + "Abnormal cellular physiology", + "Abnormal erythrocyte morphology", + "Duplication of phalanx of hand", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal DNA metabolic process", + "abnormally decreased number of myeloid cell", + "abnormal long bone morphology", + "Duplication of bones involving the upper extremities", + "abnormal platelet", + "Abnormality of chromosome stability", + "abnormal manus", + "abnormal manual digit morphology in the manus", + "Abnormal cranial nerve physiology", + "changed biological_process rate", + "abnormal sensory perception", + "Abnormal myeloid cell morphology", + "decreased height of the multicellular organism", + "Abnormal finger phalanx morphology", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "Duplication of hand bones", + "abnormal face", + "abnormally decreased number of hematopoietic cell", + "paralysed cranial nerve", + "abnormal head", + "abnormal bone marrow morphology", + "decreased size of the anatomical entity in the independent continuant", + "Abnormal platelet count", + "abnormal platelet morphology", + "decreased length of anatomical entity in independent continuant", + "abnormal hematopoietic cell morphology", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal leukocyte count", + "abnormal musculature", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormal cell morphology", + "abnormal number of anatomical enitites of type cell", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Acute leukemia", + "decreased qualitatively sensory perception of mechanical stimulus", + "entity", + "abnormal hematopoietic system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "Growth abnormality", + "abnormal cellular process", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal nervous system", + "Neoplasm", + "abnormal erythrocyte morphology", + "abnormally decreased number of anatomical entity", + "abnormal peripheral nervous system", + "Abnormality of the hand", + "Short digit", + "Abnormal thumb morphology", + "phenotype by ontology source", + "Abnormal cellular phenotype", + "Abnormal ear physiology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal phenotype by ontology source", + "decreased length of digit", + "abnormal cellular component organization", + "specifically dependent continuant", + "abnormal erythroid lineage cell morphology", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "Pancytopenia", + "decreased length of manual digit 1", + "Neoplasm by anatomical site", + "quality", + "abnormal craniocervical region morphology", + "continuant", + "decreased qualitatively biological_process", + "Abnormal upper limb bone morphology", + "All", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic system morphology", + "Abnormal digit morphology", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "Muscle weakness", + "abnormal bone of pectoral complex morphology", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", + "Acute myeloid leukemia", + "abnormal cell", + "abnormal anatomical entity length", + "abnormally decreased number of cell", + "Short stature", + "abnormal number of anatomical enitites of type leukocyte", + "Leukemia", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal anatomical entity", + "abnormal immune system", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal cellular immune system morphology", + "Aplasia/Hypoplasia of the thumb", + "abnormality of nervous system physiology", + "abnormal immune system morphology", + "phenotype", + "Abnormal hand morphology", + "Abnormality of the immune system", + "Abnormality of body height", + "Abnormal appendicular skeleton morphology", + "abnormal limb long bone morphology", + "Hematological neoplasm", + "Abnormal leukocyte morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "abnormal chromatin organization", + "Abnormal skeletal morphology", + "Aplasia/hypoplasia of the extremities", + "abnormal leukocyte morphology", + "abnormal bone marrow cell", + "Weakness of facial musculature", + "abnormal cell morphology", + "abnormal sensory perception of sound", + "Abnormal long bone morphology", + "Abnormality of thrombocytes", + "decreased size of the anatomical entity", + "Abnormality of the skeletal system", + "abnormal phalanx of manus morphology", + "abnormal skeletal system", + "abnormal forelimb morphology", + "abnormal anatomical entity morphology in the manus", + "abnormal size of anatomical entity", + "decreased length of manual digit", + "Abnormality of facial soft tissue", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Short finger", + "Aplasia/hypoplasia involving the skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal limb bone", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Abnormal finger morphology", + "Abnormality of the musculature", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "decreased muscle organ strength", + "Short thumb", + "abnormal phalanx morphology", + "Abnormality of limb bone", + "abnormal nervous system morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of the upper limb", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal arm", + "Abnormal erythroid lineage cell morphology", + "Abnormal immune system morphology", + "aplasia or hypoplasia of manual digit", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "abnormal autopod region morphology", + "abnormal limb", + "aplasia or hypoplasia of skeleton", + "abnormal manual digit morphology in the independent continuant", + "abnormal manus morphology", + "abnormal nerve", + "abnormal organelle organization", + "abnormal digit", + "Abnormality of the face", + "Bone marrow hypocellularity", + "Abnormality of the ear", + "abnormal manual digit 1 morphology", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal limb morphology", + "Abnormality of thumb phalanx" + ], + "has_phenotype_count": 11, "highlight": null, "score": null }