DO_rare_slim NCIthesaurus has material basis in autosomal dominant disease popliteal pterygium syndrome UMLS_CUI:C0265259 GARD:3242 2015-02-04T14:16:39Z SNOMEDCT_US_2025_09_01:205820002 MIM:119500 ORDO:294963 disease_ontology A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. MIM:263650 DOID:0060055 ORDO:1300 NT MGI. facio-genito-popliteal syndrome popliteal web syndrome syndrome autosomal dominant inheritance