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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



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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
IAGP
EXP
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
JBrowse link
G LOC129992891 ATAC-STARR-seq lymphoblastoid silent region 15602 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868
G LOC129992892 ATAC-STARR-seq lymphoblastoid silent region 15603 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:25371195 PMID:25741868 PMID:28492532 More...
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    Diseases of the Aged 1419
      Premature Aging 94
        Wolfram syndrome 2 4
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        Neurologic Manifestations 15108
          sensory system disease 9668
            Otorhinolaryngologic Diseases 2265
              auditory system disease 1331
                Hearing Disorders 1131
                  Hearing Loss 1125
                    Deafness 635
                      Deaf-Blind Disorders 239
                        Wolfram syndrome 7
                          Wolfram syndrome 2 4
paths to the root