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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Kahrizi syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    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.