loading...| Preferred Name |
autosomal dominant cerebellar ataxia |
|
| Synonyms |
cerebellar ataxia, autosomal dominant autosomal dominant spinocerebellar ataxia Autosomal Dominant Hereditary Ataxia ADCA SCA spinocerebellar ataxia Pierre Marie cerebellar ataxia (formerly) |
|
| Definitions |
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020380 |
|
| database_cross_reference |
Orphanet:99 GARD:4346 UMLS:CN227858 SCTID:129609000 DOID:1441 NORD:825 ICD9:334.3 OMIMPS:164400 |
|
| definition |
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. |
|
| disease has major feature | ||
| exactMatch |
http://identifiers.org/snomedct/129609000 http://linkedlifedata.com/resource/umls/id/CN227858 http://purl.obolibrary.org/obo/Orphanet_99 |
|
| has_broad_synonym |
SCA spinocerebellar ataxia |
|
| has_exact_synonym |
cerebellar ataxia, autosomal dominant autosomal dominant spinocerebellar ataxia Autosomal Dominant Hereditary Ataxia ADCA |
|
| has_related_synonym |
Pierre Marie cerebellar ataxia (formerly) |
|
| IAO_0000233 | ||
| id |
MONDO:0020380 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
autosomal dominant cerebellar ataxia |
|
| notation |
MONDO:0020380 |
|
| prefLabel |
autosomal dominant cerebellar ataxia |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000437 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022687 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0024237 |