Ataxia-Oculomotor Apraxia Type 3

Preferred Label : Ataxia-Oculomotor Apraxia Type 3;

NCIt synonyms : AOA3;

NCIt definition : An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.;

Details

Origin ID

C173403;

UMLS CUI

C3554690;

Currated CISMeF NLP mapping
- Ataxia-oculomotor apraxia 3 [OMIM Phenotype]
- ataxia with oculomotor apraxia type 3 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-oculomotor apraxia 3 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PIK3R5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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