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Term:Kahrizi syndrome
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Accession:DOID:0050807 term browser browse the term
Definition:An autosomal recessive disease 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;   Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive
 primary_id: MESH:C567196
 alt_id: OMIM:612713;   RDO:0015337
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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

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Path 1
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  disease 14759
    syndrome 4210
      Kahrizi syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Kahrizi syndrome 1
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