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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/213200
http://purl.bioontology.org/ontology/OMIM/213200
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 |
| Synonyms |
CEREBELLOPARENCHYMAL DISORDER III
CPD III
CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL
CPD3
SCAR2
CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CEREBELLOPARENCHYMAL DISORDER III
CPD III
CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL
CPD3
SCAR2
CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE
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|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
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| Gene Symbol |
PMPCA
SCAR2
KIAA0123
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| Scope Statement | Some patients do not achieve independent ambulation [MISCELLANEOUS]
Non- or slowly progressive [MISCELLANEOUS]
Onset in infancy or in the first year of life [MISCELLANEOUS]
Caused by mutation in the mitochondrial processing peptidase, alpha gene (PMPCA, 613036.0001) [MOLECULAR BASIS]
Later onset in adolescence has rarely been reported [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9q34.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 213200
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1859298
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |