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DOID:0050807 - Kahrizi syndrome
Disease Ontology 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.
Synonyms: intellectual disability-cataract-coloboma-kyphosis syndrome, intellectual disability, Kahrizi type, KHRZ
Xenbase Genes
:
srd5a3
| MONDO:0012991 - Kahrizi syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)