Search Ontology:
Human Disease

popliteal pterygium syndrome

Term ID
DOID:0060055
Synonyms
  • facio-genito-popliteal syndrome
  • popliteal web syndrome
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. (4)
References
Ontology
Human Disease   ( DOID:0060055 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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