Spastic Paraplegia 47

Preferred Label : Spastic Paraplegia 47;

NCIt synonyms : SPG47;

NCIt definition : An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the AP4B1 gene, encoding AP-4 complex subunit beta-1. It is characterized by severe mental retardation and spasticity.;

NCI Metathesaurus CUI : CL977515;

Details

Origin ID

C164224;

UMLS CUI

C3279738;

Automatic exact mappings (from CISMeF team)
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
Currated CISMeF NLP mapping
- Spastic paraplegia 47, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 47 [DO 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)
- Spastic paraplegia 47, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 47 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AP4B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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