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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Wolfram syndrome
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Accession:DOID:0080584 term browser browse the term
Definition:A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION;   WFSL;   Wolfram-Like Syndrome, Autosomal Dominant
 primary_id: MESH:C565631
 alt_id: DOID:9005443;   OMIM:614296;   RDO:0014217
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autosomal dominant Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Wolfram syndrome 4
        autosomal dominant Wolfram syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    Deaf-Blind Disorders 52
                      Wolfram syndrome 4
                        autosomal dominant Wolfram syndrome 1
paths to the root

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