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DOID:0060055 - popliteal pterygium syndrome
Disease Ontology 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.
Synonyms: facio-genito-popliteal syndrome, popliteal web syndrome
Xenbase Genes
:
ripk4,
irf6,
irf6.2
| MONDO:0017435 - popliteal pterygium syndrome |
| MIM:119500 - POPLITEAL PTERYGIUM SYNDROME; PPS |
| MIM:263650 - BARTSOCAS-PAPAS SYNDROME 1; BPS1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)