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autosomal recessive cerebellar ataxia

^ 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 ]

Term info

database cross reference
  • Orphanet:1172 (MONDO:equivalentTo)
  • OMIMPS:213200 (MONDO:equivalentTo)
  • DOID:0050950 (MONDO:equivalentTo)
  • UMLS:CN226644 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

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.

exactMatch

https://omim.org/phenotypicSeries/PS213200, http://purl.obolibrary.org/obo/DOID_0050950, http://linkedlifedata.com/resource/umls/id/CN226644, http://purl.obolibrary.org/obo/Orphanet_1172

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368, http://purl.obolibrary.org/obo/MONDO_0100309, http://purl.obolibrary.org/obo/MONDO_0020138

has exact synonym

arca, cerebellar ataxia, autosomal recessive

id

MONDO:0015244