About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/20/2020
MGI 6.16
The Jackson Laboratory