Spastic Paraplegia 76

Preferred Label : Spastic Paraplegia 76;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CAPN1 gene, encoding calpain-1 catalytic subunit.;

NCI Metathesaurus CUI : CL936904;

Details

Origin ID

C157150;

UMLS CUI

C4763439;

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
- CAPN1 Gene [NCIt concept]

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