loading...| Preferred Name |
Wolfram syndrome |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [LS]. An autosomal recessive 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). |
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| ID |
http://purl.obolibrary.org/obo/DOID_10632 |
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| comment |
OMIM mapping confirmed by DO. [LS]. |
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| definition |
An autosomal recessive 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). |
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| hasDbXref |
MESH:D014929 UMLS_CUI:C0043207 SNOMEDCT_US_2016_03_01:70694009 NCI:C35133 |
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| hasExactSynonym |
Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) DIDMOAD WFS |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:10632 |
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| imported from | ||
| label |
Wolfram syndrome |
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| prefixIRI |
DOID:10632 |
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| prefLabel |
Wolfram syndrome |
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| subClassOf |
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