Term Name: | pantothenate kinase-associated neurodegeneration |
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Synonyms: | brain Iron Accumulation type I syndrome, Hallervorden-Spatz disease, Hallervorden-Spatz syndrome, NBIA1, neurodegeneration with brain iron accumulation 1, Pigmentary pallidal degeneration |
Definition: | A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. |
Ontology: | Human Disease [DOID:3981] ( DOID:3981 ) |