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Disease Ontology Browser
autosomal dominant Robinow syndrome 2 (DOID:0060765)
Alliance: disease page
Synonyms: DRS2
Alt IDs: OMIM:616331, ORDO:3107
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.


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)
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last database update
11/15/2022
MGI 6.22
The Jackson Laboratory