Spastic Paraplegia 4

Preferred Label : Spastic Paraplegia 4;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SPAST gene, encoding spastin. It is characterized by progressive lower extremity spasticity and weakness.;

Details

Origin ID

C129981;

UMLS CUI

C3711371;

Currated CISMeF NLP mapping
- spastic paraplegia type 4 [MeSH Supplementary Concept]
- spastic paraplegia type 4 [MeSH 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)
- spastic paraplegia type 4 [MeSH Supplementary Concept]
- spastic paraplegia type 4 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SPAST Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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