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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614296
http://purl.bioontology.org/ontology/OMIM/614296
|
|---|---|
| Preferred Name | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT |
| Synonyms |
HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
WFSL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
WFSL
|
|---|---|
| prefLabel | WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT
|
| Gene Symbol |
DFNA6
DFNA38
WFS
WFRS
WFS1
CTRCT41
WFSL
DFNA14
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|
| Scope Statement | Caused by mutation in the wolframin ER transmembrane glycoprotein gene (WFS1, 606201.0020) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4p16.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614296
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280358
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |