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Disease Ontology Browser
Kahrizi syndrome (DOID:0050807)
Alliance: disease page
Synonyms: intellectual disability, Kahrizi type; intellectual disability-cataract-coloboma-kyphosis syndrome; KHRZ
Alt IDs: OMIM:612713, ORDO:168972
Definition: A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.

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
MGI 6.21
The Jackson Laboratory