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Disease Ontology Browser
autosomal dominant Robinow syndrome 1 (DOID:0060766)
Alliance: disease page
Synonyms: DRS1
Alt IDs: OMIM:180700, ICD10CM:Q87.1, ORDO:3107, ORDO:97360
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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The Jackson Laboratory