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RGD uses the Human Disease Ontology (DO, 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

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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 | ClinVar Annotator: match by term: Wolfram syndrome 1
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21109
    syndrome 10708
      Wolfram syndrome 4
        Wolfram syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21109
    Pathological Conditions, Signs and Symptoms 13242
      Signs and Symptoms 10732
        Neurologic Manifestations 9971
          sensory system disease 6869
            Otorhinolaryngologic Diseases 1691
              auditory system disease 946
                Hearing Disorders 777
                  Hearing Loss 773
                    Deafness 342
                      Deaf-Blind Disorders 69
                        Wolfram syndrome 4
                          Wolfram syndrome 1 1
paths to the root