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Metadata
ID DOID:0060766
Name autosomal dominant Robinow syndrome 1
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.
https://www.ncbi.nlm.nih.gov/pubmed/19918918, https://www.ncbi.nlm.nih.gov/pubmed/24716670
Xrefs

OMIM:180700

ORDO:3107

Subsets

DO_rare_slim

Synonyms

DRS1 [EXACT]

Parent Relationships

is_a Robinow syndrome

is_a autosomal dominant disease

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