Spastic Paraplegia 7

Preferred Label : Spastic Paraplegia 7;

NCIt synonyms : SPG7; Spastic Paraplegia 7, Autosomal Recessive;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the SPG7 gene, encoding paraplegin.;

Détails

Origin ID

C181657;

UMLS CUI

C1846564;

Currated CISMeF NLP mapping
- Spastic paraplegia 7, autosomal recessive [OMIM Phenotype]
- Spastic paraplegia type 7 [ORDO Disease]
- hereditary spastic paraplegia 7 [DO Concept]
- spastic paraplegia 7, autosomal recessive [MeSH concept]
- spastic paraplegia 7, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia type 7 [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Autosomal recessive spastic paraplegia type 7 [ICD-11 More detail]
- Spastic paraplegia type 7 (disorder) [SNOMED CT concept]
- Spg7 matrix aaa peptidase subunit, paraplegin [OMIM gene]
- spastic paraplegia type 7 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia 7, autosomal recessive [OMIM Phenotype]
- spastic paraplegia 7, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 7, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- SPG7 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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