You are using an outdated browser. Please upgrade your browser to improve your experience.

neurodegeneration with brain iron accumulation

Disease Summary
Associated Targets (14)
Tbio

12

Tchem

2


GARD Rare
Mondo Description Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
Disease Ontology Description A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
Mondo Term and Equivalent IDs
MONDO:0018307:  neurodegeneration with brain iron accumulation
DC:0000320: 
GARD:0011899: 
MESH:C538421: 
OMIMPS:234200: 
Orphanet:385: