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Hearing Impairment Ontology
Last uploaded:
October 31, 2019
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| Id | http://purl.obolibrary.org/obo/HIO_0000028
http://purl.obolibrary.org/obo/HIO_0000028
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|---|---|
| Preferred Name | Wolfram Syndrome 1 |
| 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel |
Wolfram Syndrome 1
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|---|---|
| label |
Wolfram Syndrome 1
|
| description |
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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| has mode of inheritance | |
| creation_date |
2019-05-27T18:07:44.46914Z
|
| created_by |
Jade Hotchkiss
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| existence in other ontologies |
Sufficient
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| prefixIRI |
HIO:0000028
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| database cross reference |
DOID:0110629
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| subClassOf | |
| definition source | |
| hasExactSynonym |
WFS
WFS1
WS1
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| type |
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