Terminology Service for NFDI4Health
neurodegeneration with brain iron accumulation
Go to external page
http://purl.obolibrary.org/obo/MONDO_0018307
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. [ ]
Term info
Label
neurodegeneration with brain iron accumulation
Synonyms
- NBIA
- neurodegeneration with brain iron accumulation
Subsets
disease_grouping, ordo_group_of_disorders
comment
Editor note: check relationship to PKAN
exactMatch
http://purl.obolibrary.org/obo/Orphanet_385, http://purl.obolibrary.org/obo/DOID_0110734, https://omim.org/phenotypicSeries/PS234200, http://identifiers.org/mesh/C538421
id
MONDO:0018307
narrowMatch
https://icd.codes/icd10cm/G23.0