| diseaseontology:DOID:10632 | rdf:type | skos:Concept | lld:diseaseontology |
| diseaseontology:DOID:10632 | 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] | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:inScheme | lld:diseaseontology | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:prefLabel | Wolfram syndrome | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:altLabel | Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:altLabel | DIDMOAD | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:notation | MSH:D014929 | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:notation | NCI:C35133 | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:notation | OMIM:222300 | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:notation | OMIM:604928 | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:notation | SNOMEDCT_2010_1_31:70694009 | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:notation | UMLS_CUI:C0043207 | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:note | OMIM mapping confirmed by DO. [LS]. | lld:diseaseontology |
| diseaseontology:DOID:10632 | skos:broader | diseaseontology:DOID:630 | lld:diseaseontology |
