Spastic Paraplegia 56

Preferred Label : Spastic Paraplegia 56;

NCIt synonyms : Autosomal Recessive Spastic Paraplegia-56 with or without Pseudoxanthoma Elasticum; SPG56;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP2U1 gene, encoding cytochrome P450 2U1.;

NCI Metathesaurus CUI : CL1799290;

Details

Origin ID

C190870;

UMLS CUI

C3539507;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive spastic paraplegia type 56 [ORDO Disease]
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 recessive spastic paraplegia type 56 (disorder) [SNOMED CT concept]
- Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CYP2U1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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