loading...| Preferred Name | autosomal recessive cerebellar ataxia | |
| Synonyms |
cerebellar ataxia, autosomal recessive arca |
|
| 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 |
|
| database_cross_reference |
Orphanet:1172 DOID:0050950 MEDGEN:1843058 OMIMPS:213200 UMLS:C5575375 GARD:18718 |
|
| 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. |
|
| has_exact_synonym |
cerebellar ataxia, autosomal recessive arca |
|
| id |
MONDO:0015244 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
autosomal recessive cerebellar ataxia |
|
| notation |
MONDO:0015244 |
|
| preferred label |
autosomal recessive cerebellar ataxia |
|
| prefLabel |
autosomal recessive cerebellar ataxia |
|
| skos_exactMatch |
http://identifiers.org/medgen/1843058 http://purl.obolibrary.org/obo/DOID_0050950 https://omim.org/phenotypicSeries/PS213200 |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020138 |