JSON

ataxia with oculomotor apraxia type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0008842

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. [ Orphanet:1168 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050754 (MONDO:equivalentTo)
  • OMIM:208920 (Orphanet:1168)
  • MESH:C538013 (MONDO:equivalentTo)
  • ICD10:G11.3 (Orphanet:1168)
  • UMLS:C1859598 (Orphanet:1168)
  • GARD:0009283 (Orphanet-shared)
  • Orphanet:1168 (OMIM:208920)
Subsets

ordo_disease

abbreviation
AOA1 [ Orphanet:1168 ]

comment

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859598

http://purl.obolibrary.org/obo/DOID_0050754

http://identifiers.org/omim/208920

http://identifiers.org/mesh/C538013

http://www.orpha.net/ORDO/Orphanet_1168

has exact synonym

AOA1

APTX oculomotor apraxia or related oculomotor disease

oculomotor apraxia or related oculomotor disease caused by mutation in APTX

has related synonym

ataxia-telangiectasia-like syndrome

early-onset ataxia with oculomotor apraxia and hypoalbuminemia

EAOH

EOCA-HA

ataxia-oculomotor apraxia syndrome

ataxia, adult-onset, with oculomotor apraxia

early-onset cerebellar ataxia with hypoalbuminemia

ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

ataxia-oculomotor apraxia type 1

cerebellar ataxia, early-onset, with hypoalbuminemia

ataxia-oculomotor apraxia 1

id

MONDO:0008842