ZFIN Human Disease: Schinzel type phocomelia

OBO ID: DOID:0112181

Term Name:	Schinzel type phocomelia		Search Ontology:
Synonyms:	AARRS absence of ulna and fibula with severe limb deficiency Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome LPHAS Schinzel phocomelia syndrome severe limb deficit
Definition:	A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (2)
References:	GARD:9212 OMIM:276820 ORDO:2879
Ontology:	Human Disease ( DOID:0112181 )

Relationships

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

OTHER Schinzel type phocomelia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WNT7A	wnt7ab wnt7aa	Ulna and fibula, absence of, with severe limb deficiency	276820

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None