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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613227
http://purl.bioontology.org/ontology/OMIM/613227
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34 |
| Synonyms |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3
CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 3
SCAR34
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
CAMRQ3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3
CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 3
SCAR34
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
CAMRQ3
|
|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34
|
| Gene Symbol |
SCAR34
CA8
CARP
CALS
|
| Scope Statement | Caused by mutation in the carbonic anhydrase VIII gene (CA8, 114815.0001) [MOLECULAR BASIS]
Variable disease progression [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q11-q12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613227
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2750509
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |