Summary Literature (1)

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

In OMIM:

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

In Mondo Disease Ontology:

MONDO:0024455 - autosomal dominant Robinow syndrome 1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : dvl1, dvl3, wnt5a

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