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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


show annotations for term's descendants           Sort by:
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 chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21109
    syndrome 10708
      Kahrizi syndrome 1
Path 2
Term Annotations click to browse term
  disease 21109
    disease of anatomical entity 18151
      nervous system disease 13988
        central nervous system disease 12335
          brain disease 11566
            disease of mental health 8223
              developmental disorder of mental health 5468
                specific developmental disorder 4433
                  intellectual disability 4243
                    Kahrizi syndrome 1
paths to the root