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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
Ontology
Human Disease   ( DOID:0050807 )
Relationships
is a type of
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Genes Involved
Zebrafish Models