Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Wolfram syndrome 2
go back to main search page
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;   RDO:0014291
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:10045601
RGD:10045603
RGD:11554173
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Diseases of the Aged 1171
      Premature Aging 65
        Wolfram syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    Deaf-Blind Disorders 52
                      Wolfram syndrome 4
                        Wolfram syndrome 2 2
paths to the root

NHLBI Logo

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