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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: MIM: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
ISS		 OMIM:222300
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1		 OMIM
MouseDO
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      endocrine system disease 7029
        diabetes mellitus 1663
          type 1 diabetes mellitus 384
            Wolfram syndrome 7
              Wolfram syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Signs and Symptoms 11167
        Neurologic Manifestations 10421
          sensory system disease 7330
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1051
                Hearing Disorders 840
                  Hearing Loss 835
                    Deafness 380
                      Deaf-Blind Disorders 83
                        Wolfram syndrome 7
                          Wolfram syndrome 1 1
paths to the root