ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Kahrizi syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Kahrizi syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.