About   Help   FAQ
Disease Ontology Browser
autosomal dominant Robinow syndrome 1 (DOID:0060766)
Alliance: disease page
Synonyms: DRS1
Alt IDs: OMIM:180700, ORDO:3107
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
11/15/2022
MGI 6.22
The Jackson Laboratory