ZFIN Human Disease: popliteal pterygium syndrome

OBO ID: DOID:0060055

Term Name:	popliteal pterygium syndrome		Search Ontology:
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:	GARD:3242 MESH:C562509 NCI:C118786 OMIM:119500 OMIM:263650 ORDO:1300 ORDO:294963 SNOMEDCT_US_2023_03_01:205820002 UMLS_CUI:C0265259
Ontology:	Human Disease ( DOID:0060055 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IRF6	irf6	Popliteal pterygium syndrome 1	119500
RIPK4	ripk4	Popliteal pterygium syndrome, Bartsocas-Papas type 1	263650

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)