loading...| Preferred Name |
Wolfram Syndrome 1 |
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| Synonyms |
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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/HIO_0000028 |
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| 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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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-27T18:07:44.46914Z |
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| database cross reference |
DOID:0110629 |
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| definition source | ||
| existence in other ontologies |
Sufficient |
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| has mode of inheritance | ||
| hasExactSynonym |
WFS WFS1 WS1 |
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| label |
Wolfram Syndrome 1 |
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| prefixIRI |
HIO:0000028 |
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| prefLabel |
Wolfram Syndrome 1 |
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| subClassOf |