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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



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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 term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    syndrome 10278
      Kahrizi syndrome 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      nervous system disease 13469
        central nervous system disease 12052
          brain disease 11311
            disease of mental health 8174
              developmental disorder of mental health 5562
                specific developmental disorder 4507
                  intellectual disability 4314
                    Kahrizi syndrome 1
paths to the root