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autosomal dominant popliteal pterygium syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by 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.
Mondo Term and Equivalent IDs
MONDO:0007334:  autosomal dominant popliteal pterygium syndrome
GARD:0003242: 
Orphanet:1300: 
SCTID:718222000: 
UMLS:CN199177: