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Disease Ontology Browser
oculovertebral syndrome (DOID:0070822)
Alliance: disease page
Synonyms: OVS
Alt IDs: OMIM:621277, UMLS_CUI:C6065896
Definition: A syndrome characterized by variable expressivity of uveal coloboma, often associated with other ocular abnormalities, and missing vertebrae in the thoracic and/or lumber spine that has_material_basis_in heterozygous mutation in the NR6A1 gene on chromosome 9q33.

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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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory