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DO Term : neurodegeneration with brain iron accumulation 2a [DOID:0110735] 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 and is characterized by onset in the first 2 years of life.
  • synonyms:
  • INAD1,
  • GARD:2751,
  • Infantile Neuroaxonal Dystrophy 1,
  • NBIA2a,
  • OMIM:256600,
  • Neurodegeneration, Pla2g6-Associated,
  • 256600,
  • ICD10CM:G23.0,
  • Seitelberger Disease
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