loading...| Preferred Name | Wolfram syndrome 1 | |
| Synonyms |
DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness |
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| Definitions |
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 WFS1 gene on chromosome 4p16.1. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110629 |
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| alternative label |
DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness |
|
| database_cross_reference |
ICD10CM:E13.8 MIM:222300 |
|
| 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 WFS1 gene on chromosome 4p16.1. |
|
| has exact synonym |
DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0110629 |
|
| label |
Wolfram syndrome 1 |
|
| notation |
DOID:0110629 |
|
| note |
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 WFS1 gene on chromosome 4p16.1. |
|
| preferred label |
Wolfram syndrome 1 |
|
| prefLabel |
Wolfram syndrome 1 |
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| disjointWith | ||
| subClassOf |