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 ]
Term information
- 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)
ordo_disease
Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency,
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
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.
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
AOA1
APTX oculomotor apraxia or related oculomotor disease
oculomotor apraxia or related oculomotor disease caused by mutation in APTX
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