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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615768
http://purl.bioontology.org/ontology/OMIM/615768
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 |
| Synonyms |
SCAR16
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCAR16
|
|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
|
| Gene Symbol |
STUB1
CHIP
SCAR16
SCA48
|
| Scope Statement | Variable age at onset (range 2 to 48 years) [MISCELLANEOUS]
Onset usually in second decade [MISCELLANEOUS]
Caused by mutation in the STIP1 homologous and U box-containing protein 1 gene (STUB1, 607207.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615768
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5190574
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |