Spastic Paraplegia 10

Preferred Label : Spastic Paraplegia 10;

NCIt synonyms : SPG10;

NCIt definition : An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF5A gene, encoding kinesin heavy chain isoform 5A.;

Details

Origin ID

C192058;

UMLS CUI

C1858712;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 10 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 10 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 10 (disorder) [SNOMED CT concept]
- Spastic paraplegia 10, autosomal dominant [OMIM Phenotype]
- Spastic paraplegia 10, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 10 [DO Concept]
- spastic paraplegia 10, autosomal dominant [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 dominant spastic paraplegia type 10 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 10 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 10 (disorder) [SNOMED CT concept]
- Spastic paraplegia 10, autosomal dominant [OMIM Phenotype]
- Spastic paraplegia 10, autosomal dominant [MeSH concept]
- spastic paraplegia 10, autosomal dominant [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KIF5A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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