Spastic Paraplegia 5A

Preferred Label : Spastic Paraplegia 5A;

NCIt synonyms : SPG5A;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP7B1 gene, cytochrome P450 7B1.;

Details

Origin ID

C177250;

UMLS CUI

C1849115;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 5A [ORDO Disease]
- Autosomal recessive spastic paraplegia type 5A [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 5A (disorder) [SNOMED CT concept]
- Spastic paraplegia 5a, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 5A [DO Concept]
- spastic paraplegia 5A [Disease (Nov.)]
- spastic paraplegia 5a, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 5a, autosomal recessive [MeSH concept]
- spastic paraplegia type 5A, recessive [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 recessive spastic paraplegia type 5A (disorder) [SNOMED CT concept]
- Spastic paraplegia 5a, autosomal recessive [OMIM Phenotype]
- spastic paraplegia 5a, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 5a, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CYP7B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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