loading...| Preferred Name | obsolete_spinocerebellar ataxia | |
| Synonyms |
Spinocerebellar ataxia (disorder) Spinocerebellar Atrophy Spinocerebellar Ataxias Dominantly-Inherited Spinocerebellar Ataxia |
|
| Definitions |
A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH). |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0002624 |
|
| Obsolete |
true |
|
| database_cross_reference |
OMIM:164400 NIFSTD:birnlex_12648 DOID:1441 |
|
| definition |
A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH). |
|
| deprecated |
true |
|
| has_exact_synonym |
Spinocerebellar ataxia (disorder) Spinocerebellar Atrophy Spinocerebellar Ataxias Dominantly-Inherited Spinocerebellar Ataxia |
|
| label |
obsolete_spinocerebellar ataxia |
|
| obsoleted_in_version |
2.32 |
|
| organizational_class |
true |
|
| preferred label |
obsolete_spinocerebellar ataxia |
|
| prefixIRI |
efo:EFO_0002624 |
|
| prefLabel |
obsolete_spinocerebellar ataxia |
|
| reason_for_obsolescence |
Reorganised according to Orphanet hierarchy |
|
| term editor |
Tomasz Adamusiak Ele Holloway |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0002624 | CLO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0002624 | CCONT | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0002624 | CCONT | LOOM |