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Wolfram syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.
Uniprot Description A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110630
MESH:C565733
OMIM:604928
UMLS:C1858028
MONDO:0011502
High level summary of knowledge for a disease, including descriptions and datasource references.