loading...| Preferred Name |
autosomal dominant cerebellar ataxia type I |
|
| Synonyms |
ADCA1 autosomal dominant cerebellar ataxia type 1 cerebellar plus syndrome ADCAI |
|
| Definitions |
Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019792 |
|
| has_exact_synonym |
ADCA1 autosomal dominant cerebellar ataxia type 1 cerebellar plus syndrome ADCAI |
|
| label |
autosomal dominant cerebellar ataxia type I |
|
| prefixIRI |
MONDO:0019792 |
|
| prefLabel |
autosomal dominant cerebellar ataxia type I |
|
| textual definition |
Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019792 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019792 | OBA | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019792 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019792 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019792 | OBA | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019792 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_94145 | ORDO | LOOM |