FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Kahrizi syndrome ID (Ontology) DOID:0050807 (Human Disease)
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.
Also Known As "intellectual disability, Kahrizi type" ; "intellectual disability-cataract-coloboma-kyphosis syndrome" ; "KHRZ"
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DO.org
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 Genes
 Kahrizi syndrome       1
 for disease ribbon | Kahrizi syndrome       1
 model of | Kahrizi syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Kahrizi syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "intellectual disability, Kahrizi type" EXACT
    "intellectual disability-cataract-coloboma-kyphosis syndrome" EXACT
    "KHRZ" EXACT OMO:0003012
Secondary IDs
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MESH:C567196
MIM:612713
ORDO:168972