Ataxia-Oculomotor Apraxia Type 1

Preferred Label : Ataxia-Oculomotor Apraxia Type 1;

NCIt synonyms : AOA1; Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia; EAOH;

NCIt definition : An autosomal recessive cerebellar ataxia caused by mutation(s) in the APTX gene, encoding aprataxin. It is characterized by peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminemia.;

Details

Origin ID

C173401;

UMLS CUI

C1859598;

Currated CISMeF NLP mapping
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive ataxia with oculomotor apraxia type 1 [ICD-11 More detail]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia [ICD-11 More detail]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH concept]
- ataxia with oculomotor apraxia type 1 [DO Concept]
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- aprataxin [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH concept]
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- APTX Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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