{"_id":"MONDO:0019759","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"520-85-4","chemical_name":"Medroxyprogesterone","direct_evidence":"marker/mechanism","mesh_chemical_id":"D008525","pubmed":"1873679","source":"CTD"},"mesh":"D004842"},"hpo":{"disease_name":"Isolated epispadias","orphanet":"93928","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100627","orphanet_refs":"orphanet:93928"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000039","orphanet_refs":"orphanet:93928"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000020","orphanet_refs":"orphanet:93928"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000076","orphanet_refs":"orphanet:93928"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002644","orphanet_refs":"orphanet:93928"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030911","orphanet_refs":"orphanet:93928"}]},"mondo":{"ancestors":["MONDO:0019755","MONDO:7770007","MONDO:0700096","MONDO:0021147","MONDO:0000001","MONDO:0017919","MONDO:0005240","MONDO:0019356","MONDO:7770006","MONDO:0002118"],"definition":"Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. [Orphanet:93928]","label":"epispadias","mondo":"MONDO:0019759","parents":["MONDO:0017919"],"synonym":{"exact":["epispadias","epispadias (disease)"]},"xrefs":{"gard":["0019235"],"hp":["HP:0000039"],"icd10cm":["Q64.0"],"icd11":["foundation:397402420"],"icd9":["752.62"],"meddra":["10015088"],"medgen":["41839"],"mesh":["D004842"],"ncit":["C98923"],"orphanet":["93928"],"sctid":["406476007"],"umls":["C0014588"]}},"original_id":"orphanet:93928","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"preferred":"Q64.0"},"icd10am":{"preferred":"Q64.0"},"icd10cm":{"preferred":"Q64.0"},"mesh":{"non-preferred":"D004842","preferred":"D004842"},"nci":{"preferred":"C98923"},"snomed":{"non-preferred":["406476007","18364005","204887005","204893002"],"preferred":["204893002","18364005","406476007","268327004","156968008","408675006"]},"umls":"C0014588"}}