autosomal dominant Robinow syndrome 1

Summary

DOID:0060766 - autosomal dominant Robinow syndrome 1

Disease Ontology 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.

Synonyms: DRS1

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, dvl3, wnt5a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0024455 - autosomal dominant Robinow syndrome 1

MONDO:0024455 - autosomal dominant Robinow syndrome 1

MIM:

MIM:180700 - ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

MIM:180700 - ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

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)