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| Term | popliteal pterygium syndrome | ID (Ontology) | DOID:0060055 (Human Disease) |
| Definition | 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. | ||
| Also Known As | "facio-genito-popliteal syndrome" ; "popliteal web syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| popliteal pterygium syndrome |
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autosomal dominant disease syndrome |
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GARD:3242 MESH:C562509 MIM:119500 MIM:263650 NCI:C118786 ORDO:1300 ORDO:294963 SNOMEDCT_US_2023_03_01:205820002 UMLS_CUI:C0265259 |
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