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Summary Literature (0)
DOID:0060767 - autosomal dominant Robinow syndrome 3

Disease Ontology Definition:A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27.

Synonyms: DRS3,

Xenbase Genes : dvl3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014819 - autosomal dominant Robinow syndrome 3

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), autosomal dominant disease (is_a)