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neurodegeneration with brain iron accumulation

^ 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. [ Orphanet:385 ]

Term info

database cross reference
  • GARD:0011899 (MONDO:equivalentTo)
  • Orphanet:385 (MONDO:equivalentTo)
  • MESH:C538421 (Orphanet:385/e)
  • DOID:0110734 (MONDO:equivalentTo)
  • OMIMPS:234200 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
NBIA [ DOID:0110734 Orphanet:385 ]

comment

Editor note: check relationship to PKAN

definition

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.

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

has exact synonym

neurodegeneration with brain iron accumulation, NBIA

id

MONDO:0018307