autosomal dominant Robinow syndrome 2

Summary

DOID:0060765 - autosomal dominant Robinow syndrome 2

Disease Ontology 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.

Synonyms: DRS2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dvl1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014591 - autosomal dominant Robinow syndrome 2

MONDO:0014591 - autosomal dominant Robinow syndrome 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Robinow syndrome (is_a)