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early-onset cerebellar ataxia with retained tendon reflexes

^ http://purl.obolibrary.org/obo/MONDO_0008938

Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. [ Orphanet:1177 ]

Term info

database cross reference
  • UMLS:C0393520 (Orphanet:1177/e)
  • SCTID:230228004 (MONDO:equivalentTo)
  • Orphanet:1177 (OMIM:212895)
  • ICD9:334.3 (MONDO:relatedTo)
  • OMIM:212895 (Orphanet:1177/e)
  • GARD:0002600 (MONDO:equivalentTo)
  • MESH:C535633 (Orphanet:1177/e)
Subsets

ordo_disease

abbreviation
EOCA [ OMIM:212895 Orphanet:1177 MONDO:Lexical ]

abbreviation
EOCARR [ Orphanet:1177 ]

definition

Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.

exactMatch

http://identifiers.org/mesh/C535633, http://purl.obolibrary.org/obo/Orphanet_1177, http://linkedlifedata.com/resource/umls/id/C0393520, https://omim.org/entry/212895, http://identifiers.org/snomedct/230228004

has exact synonym

EOCA, Harding ataxia, EOCARR

has related synonym

ataxia, harding type, cerebellar ataxia early onset with retained tendon reflex, cerebellar ataxia, early-onset, with retained tendon reflexes

id

MONDO:0008938