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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:Wolfram syndrome 2
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Accession:DOID:0110630 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. (DO)
Synonyms:exact_synonym: WFS2
 primary_id: MESH:C565733
 alt_id: OMIM:604928
For additional species annotation, visit the Alliance of Genome Resources.



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Wolfram syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO DNA:missense mutation: :109G>C (p.E37Q) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolfram syndrome 2
OMIM
CTD
ClinVar
RGD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 More... RGD:10045601, RGD:10045603 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Diseases of the Aged 1319
      Premature Aging 75
        Wolfram syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            carbohydrate metabolic disorder 2559
              glucose metabolism disease 1872
                diabetes 1477
                  diabetes mellitus 1463
                    type 1 diabetes mellitus 326
                      Wolfram syndrome 4
                        Wolfram syndrome 2 2
paths to the root