loading...| Preferred Name | autosomal recessive cerebellar ataxia | |
| Synonyms |
arca cerebellar ataxia, autosomal recessive |
|
| Definitions |
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015244 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/autosomal_recessive.yaml |
|
| database_cross_reference |
OMIMPS:213200 UMLS:CN226644 Orphanet:1172 DOID:0050950 |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0050950 |
|
| has exact synonym |
arca cerebellar ataxia, autosomal recessive |
|
| id |
MONDO:0015244 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
autosomal recessive cerebellar ataxia |
|
| notation |
MONDO:0015244 |
|
| prefLabel |
autosomal recessive cerebellar ataxia |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022687 http://purl.obolibrary.org/obo/MONDO_0020138 http://purl.obolibrary.org/obo/MONDO_0000557 http://purl.obolibrary.org/obo/MONDO_0000437 http://purl.obolibrary.org/obo/MONDO_0015368 http://purl.obolibrary.org/obo/MONDO_0006025 |