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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
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Accession:DOID:10632 term browser browse the term
Definition:A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. (DO)
Synonyms:exact_synonym: DIDMOAD;   DIDMOAD syndrome;   DIDMOADUD;   WFS;   diabetes insipidus and mellitus with optic atrophy and deafness;   diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
 primary_id: MESH:D014929
 xref: GARD:7898;   NCI:C35133;   ORDO:3463
For additional species annotation, visit the Alliance of Genome Resources.


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Wolfram syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:12022290 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15605410 PMID:16151413 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18414213 PMID:18544103 PMID:18806274 PMID:19042979 PMID:19344068 PMID:19877185 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:22226368 PMID:22238590 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26875006 PMID:27185633 PMID:27395765 PMID:28432734 PMID:28468959 PMID:28492532 PMID:29529044 PMID:30014265 PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
autosomal dominant Wolfram syndrome 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: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252 PMID:11295831 PMID:12022290 PMID:15605410 PMID:16648378 PMID:17492394 PMID:18544103 PMID:19877185 PMID:20069065 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28468959 PMID:28492532 PMID:29529044 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
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
JBrowse link
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 term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
CTD
PMID:10739754 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 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 16035
    syndrome 7010
      Wolfram syndrome 4
        Wolfram syndrome 1 1
        Wolfram syndrome 2 2
        Wolfram syndrome, mitochondrial form 0
        autosomal dominant Wolfram syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Deafness 276
                    Deaf-Blind Disorders 58
                      Wolfram syndrome 4
                        Wolfram syndrome 1 1
                        Wolfram syndrome 2 2
                        Wolfram syndrome, mitochondrial form 0
                        autosomal dominant Wolfram syndrome 1
paths to the root