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ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

^ http://purl.obolibrary.org/obo/MONDO_0008842

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. [ Orphanet:1168 ]

Term info

database cross reference
  • UMLS:C1859598 (Orphanet:1168)
  • MESH:C538013 (MONDO:equivalentTo)
  • Orphanet:1168 (OMIM:208920)
  • OMIM:208920 (Orphanet:1168/e)
  • DOID:0050754 (MONDO:equivalentTo)
  • GARD:0009283 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
EAOH [ MONDO:Lexical OMIM:208920 ]

abbreviation
AOA1 [ Orphanet:1168 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5347

comment

Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency,

definition

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1168, http://linkedlifedata.com/resource/umls/id/C1859598, https://omim.org/entry/208920, http://purl.obolibrary.org/obo/DOID_0050754, http://identifiers.org/mesh/C538013

has exact synonym

AOA1, APTX oculomotor apraxia or related oculomotor disease, ataxia with oculomotor apraxia type 1, oculomotor apraxia or related oculomotor disease caused by mutation in APTX, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

has related synonym

ataxia-telangiectasia-like syndrome, early-onset ataxia with oculomotor apraxia and hypoalbuminemia, EAOH, EOCA-HA, ataxia-oculomotor apraxia syndrome, early-onset cerebellar ataxia with hypoalbuminemia, ataxia, adult-onset, with oculomotor apraxia, ataxia-oculomotor apraxia type 1, cerebellar ataxia, early-onset, with hypoalbuminemia, ataxia-oculomotor apraxia 1

id

MONDO:0008842