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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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Kahrizi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by OMIM:612713 OMIM
ClinVar
PMID:18781183, PMID:20700148 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Kahrizi syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Kahrizi syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.