ZFIN Human Disease: autosomal dominant Robinow syndrome 1

OBO ID: DOID:0060766

Term Name:	autosomal dominant Robinow syndrome 1		Search Ontology:
Synonyms:	DRS1
Definition:	A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (2)
References:	OMIM:180700 ORDO:3107
Ontology:	Human Disease ( DOID:0060766 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WNT5A	wnt5a	Robinow syndrome, autosomal dominant 1	180700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None