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RGD uses the Human Disease Ontology (DO, 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.

show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by OMIM:604928
DNA:missense mutation: :109G>C (p.E37Q) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolfram syndrome 2
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:19451219, PMID:17846994 RGD:10045601, RGD:10045603 NCBI chr 2:240,586,754...240,611,560
Ensembl chr 2:240,586,754...240,611,560
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 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Diseases of the Aged 1249
      Premature Aging 66
        Wolfram syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    Deaf-Blind Disorders 53
                      Wolfram syndrome 4
                        Wolfram syndrome 2 2
paths to the root


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