OBO ID: DOID:0050807
Term Name: Kahrizi syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0050807)
OTHER Kahrizi syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SRD5A3 Kahrizi syndrome 612713
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None