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DO Term : neurodegeneration with brain iron accumulation 2b [DOID:0110736] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.
  • synonyms:
  • NBIA2b,
  • 610217,
  • Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related,
  • Neuroaxonal Dystrophy, Atypical,
  • ICD10CM:G23.0,
  • OMIM:610217
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