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Term:Kahrizi syndrome
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Accession:DOID:0050807 term browser browse the term
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. (DO)
Synonyms:exact_synonym: KHRZ;   intellectual disability, Kahrizi type;   intellectual disability-cataract-coloboma-kyphosis syndrome;   mental retardation, cataract, coloboma, and kyphosis, autosomal recessive
 primary_id: MESH:C567196
 alt_id: OMIM:612713
 xref: ORDO:168972
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Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      Kahrizi syndrome 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        central nervous system disease 8839
          brain disease 8128
            disease of mental health 5761
              developmental disorder of mental health 2914
                specific developmental disorder 2081
                  intellectual disability 1922
                    Kahrizi syndrome 1
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