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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 1
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Accession:DOID:0110629 term browser browse the term
Definition:An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)
Synonyms:exact_synonym: WFS1;   diabetes mellitus AND insipidus with optic atrophy AND deafness
 primary_id: OMIM:222300
 xref: ICD10CM:E13.8
For additional species annotation, visit the Alliance of Genome Resources.


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Wolfram syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 OMIM
ClinVar
PMID:10679252 PMID:10760554 PMID:11161832 PMID:11317350 PMID:12107816 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:17492394 PMID:17517145 PMID:18414213 PMID:18544103 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23990876 PMID:24033266 PMID:25133958 PMID:25388789 PMID:25741868 PMID:27185633 PMID:28492532 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Wolfram syndrome 4
        Wolfram syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          Otorhinolaryngologic Diseases 1152
            auditory system disease 740
              Hearing Disorders 600
                Hearing Loss 596
                  Deafness 277
                    Deaf-Blind Disorders 60
                      Wolfram syndrome 4
                        Wolfram syndrome 1 1
paths to the root