Spastic Paraplegia 31

Preferred Label : Spastic Paraplegia 31;

NCIt synonyms : SPG31;

NCIt definition : An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the REEP1 gene, encoding receptor expression-enhancing protein 1.;

Details

Origin ID

C189921;

UMLS CUI

C1853247;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 31 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 31 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 31 (disorder) [SNOMED CT concept]
- Spastic paraplegia 31, autosomal dominant [OMIM Phenotype]
- hereditary spastic paraplegia 31 [DO Concept]
- spastic paraplegia 31, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 31, autosomal dominant [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- receptor accessory protein 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 31 (disorder) [SNOMED CT concept]
- Spastic paraplegia 31, autosomal dominant [OMIM Phenotype]
- spastic paraplegia 31, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 31, autosomal dominant [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- REEP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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