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ONTOLOGY REPORT - ANNOTATIONS


Term:Wolfram syndrome
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Accession:DOID:10632 term browser browse the term
Definition:A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
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
 alt_id: RDO:0006830
 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 JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:1599813
RGD:8554872
RGD:11554173
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
Wolfram syndrome 1 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:8554872
RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      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 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    Deaf-Blind Disorders 52
                      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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.