Spastic Paraplegia 30

Preferred Label : Spastic Paraplegia 30;

NCIt synonyms : SPG30;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A.;

Details

Origin ID

C170435;

UMLS CUI

C5401306;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 30 [ICD-11 More detail]
- Autosomal spastic paraplegia type 30 [ORDO Disease]
- Autosomal spastic paraplegia type 30 (disorder) [SNOMED CT concept]
- Spastic paraplegia 30, autosomal dominant [OMIM Phenotype]
- hereditary spastic paraplegia 30 [DO Concept]
- spastic paraplegia 30, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 30, autosomal recessive [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KIF1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients