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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

Xenbase Genes : dvl1, dvl3, wnt5a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0024455 - autosomal dominant Robinow syndrome 1

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Robinow syndrome (is_a)