Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2

Preferred Label : Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2;

NCIt synonyms : AOA2; Ataxia with Oculomotor Apraxia Type 2; SCAN2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SETX gene, encoding probable helicase senataxin. It is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. Oculomotor apraxia is common, but is not always present.;

Détails

Origin ID

C165500;

UMLS CUI

C1853761;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive ataxia with oculomotor apraxia type 2 [ICD-11 More detail]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- ataxia with oculomotor apraxia type 2 [DO Concept]
- senataxin [ORDO Gene]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary 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)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 1 [MeSH concept]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- ataxia with oculomotor apraxia type 2 [DO Concept]
- ataxia with oculomotor apraxia type 2 [Disease (Nov.)]
- recessive non-Friedreich spinocerebellar ataxia type 1 [Disease (Nov.)]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- SETX Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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