ONTOLOGY REPORT - ANNOTATIONS


Term:Wolfram syndrome
go back to main search page
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;   ORDO:3463
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
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
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
Wolfram-Like Syndrome, Autosomal Dominant 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 14823
    syndrome 4218
      Wolfram syndrome 5
        Wolfram Syndrome, Mitochondrial Form 0
        Wolfram syndrome 1 1
        Wolfram syndrome 2 2
        Wolfram-Like Syndrome, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  Deafness 262
                    Deaf-Blind Disorders 54
                      Wolfram syndrome 5
                        Wolfram Syndrome, Mitochondrial Form 0
                        Wolfram syndrome 1 1
                        Wolfram syndrome 2 2
                        Wolfram-Like Syndrome, Autosomal Dominant 1
paths to the root

NHLBI Logo

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