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Metadata
ID DOID:0060765
Name autosomal dominant Robinow syndrome 2
Definition A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
https://www.ncbi.nlm.nih.gov/pubmed/25817014, https://www.ncbi.nlm.nih.gov/pubmed/26924530
Xrefs

OMIM:616331

ORDO:3107

Subsets

DO_rare_slim

Synonyms

DRS2 [EXACT]

Parent Relationships

is_a Robinow syndrome

is_a autosomal dominant disease

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