autosomal recessive cerebellar ataxia
Go to external page http://purl.obolibrary.org/obo/MONDO_0015244
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. [ Orphanet:1172 ]
Synonyms: arca cerebellar ataxia, autosomal recessive
Term information
- OMIMPS:213200 (MONDO:equivalentTo)
- Orphanet:1172 (MONDO:equivalentTo)
- UMLS:CN226644 (MONDO:equivalentTo)
- DOID:0050950 (MONDO:equivalentTo)
- GARD:18718 (Orphanet:1172)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
https://omim.org/phenotypicSeries/PS213200
http://purl.obolibrary.org/obo/DOID_0050950
http://www.orpha.net/ORDO/Orphanet_1172
http://linkedlifedata.com/resource/umls/id/CN226644
http://purl.obolibrary.org/obo/MONDO_0015368
http://purl.obolibrary.org/obo/MONDO_0100309
http://purl.obolibrary.org/obo/MONDO_0020138