Search Ontology:
Human Disease
Kahrizi syndrome
- Term ID
- DOID:0050807
- Synonyms
-
- intellectual disability, Kahrizi type
- intellectual disability-cataract-coloboma-kyphosis syndrome
- KHRZ
- 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. (2)
- References
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- MESH:C567196
- MIM:612713
- ORDO:168972
- Ontology
- Human Disease ( DOID:0050807 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models