Spastic Paraplegia 50

Preferred Label : Spastic Paraplegia 50;

NCIt synonyms : Cerebral Palsy, Spastic Quadriplegic 3, Formerly; SPG50; CPSQ3, Formerly;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the AP4M1 gene, encoding AP-4 complex subunit mu-1.;

NCI Metathesaurus CUI : CL602276;

Details

Origin ID

C179863;

UMLS CUI

C2752008;

Currated CISMeF NLP mapping
- Cerebral palsy, spastic quadriplegic, 3 [OMIM Phenotype]
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
- Severe intellectual disability and progressive spastic paraplegia (disorder) [SNOMED CT concept]
- Spastic paraplegia 50, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 50 [DO Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- adaptor related protein complex 4 subunit mu 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral palsy, spastic quadriplegic, 3 [OMIM Phenotype]
- Spastic paraplegia 50, autosomal recessive [OMIM Phenotype]
- spastic Paraplegia-50, autosomal recessive [MeSH Supplementary Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AP4M1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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