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Disease Ontology Browser
popliteal pterygium syndrome (DOID:0060055)
Alliance: disease page
Synonyms: facio-genito-popliteal syndrome; popliteal web syndrome
Alt IDs: OMIM:119500, OMIM:263650, MESH:C562509, NCI:C118786, ORDO:1300, ORDO:294963, UMLS_CUI:C0265259
Definition: An autosomal dominant disease 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.

Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory