Source:http://linkedlifedata.com/resource/diseaseontology/id/DOID:10632
| Predicate | Object |
|---|---|
| rdf:type | |
| skos:definition |
"A genetic 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 gene encoding wolframin (WFS1)." [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome, url:http\://omim.org/entry/222300]
|
| skos:inScheme | |
| skos:prefLabel |
Wolfram syndrome
|
| skos:altLabel |
DIDMOAD,
Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder)
|
| skos:notation |
MSH:D014929,
NCI:C35133,
OMIM:222300,
OMIM:604928,
SNOMEDCT_2010_1_31:70694009,
UMLS_CUI:C0043207
|
| skos:note |
OMIM mapping confirmed by DO. [LS].
|
| skos:broader |