Neurodegeneration with Brain Iron Accumulation 2A

Preferred Label : Neurodegeneration with Brain Iron Accumulation 2A;

NCIt synonyms : NBIA2A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PLA2G6 gene, encoding 85/88 kDa calcium-independent phospholipase A2. It is characterized by axonal swelling and spheroid bodies in the central nervous system. The onset is typically in the first two years of life.;

NCI Metathesaurus CUI : CL1921470;

Details

Origin ID

C202073;

UMLS CUI

C0270724;

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)
- Infantile neuroaxonal dystrophy [MedDRA Preferred Term]
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- Neurodegeneration with brain iron accumulation 2a [OMIM Phenotype]
- infantile neuroaxonal dystrophy [MeSH concept]
- infantile neuroaxonal dystrophy [Disease (Nov.)]
- infantile neuroaxonal dystrophy [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PLA2G6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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