Spinocerebellar Ataxia Type 36

Preferred Label : Spinocerebellar Ataxia Type 36;

NCIt synonyms : SCA36;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the NOP56 gene, encoding nucleolar protein 56. It is characterized by slowly progressive adult-onset gait ataxia, associated with eye movement abnormalities, tongue fasciculations and variable upper motor neuron signs.;

Details

Origin ID

C148316;

UMLS CUI

C3472711;

Automatic exact mappings (from CISMeF team)
- NOP56 ribonucleoprotein [ORDO Gene]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 36 [OMIM Phenotype]
- Spinocerebellar ataxia type 36 [ICD-11 More detail]
- Spinocerebellar ataxia type 36 [ORDO Disease]
- Spinocerebellar ataxia type 36 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 36 [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)
- Spinocerebellar ataxia 36 [OMIM Phenotype]
- Spinocerebellar ataxia type 36 [ICD-11 More detail]
- Spinocerebellar ataxia type 36 [ORDO Disease]
- Spinocerebellar ataxia type 36 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 36 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- NOP56 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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