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Echinobase
Summary Literature (0)
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, Kahrizi type, intellectual disability-cataract-coloboma-kyphosis syndrome, KHRZ

Echinobase Genes :


MIM:
MIM:612713 - kahrizi syndrome; khrz

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)