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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD
ClinVar
RGD
PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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
ISS
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300
OMIM
ClinVar
MouseDO
PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
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 PMID:25741868 PMID:28492532 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    syndrome 10752
      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 21147
    Pathological Conditions, Signs and Symptoms 13288
      Signs and Symptoms 10767
        Neurologic Manifestations 9997
          sensory system disease 6894
            Otorhinolaryngologic Diseases 1719
              auditory system disease 981
                Hearing Disorders 809
                  Hearing Loss 804
                    Deafness 361
                      Deaf-Blind Disorders 82
                        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