Autosomal recessive ataxia with oculomotor apraxia type 1

Preferred Label : Autosomal recessive ataxia with oculomotor apraxia type 1;

ICD-11 synonym : AOA1 - [Autosomal recessive ataxia with oculomotor apraxia type 1];

ICD-11 acronym : AOA1;

Details

Origin ID

25270506;

Automatic exact mappings (from CISMeF team)
- APTX wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- Ataxia-Oculomotor Apraxia Type 1 [NCIt concept]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]
- 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]
See also inter- (CISMeF)
- aprataxin [ORDO Gene]

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