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Summary Literature (0)
DOID:3981 - pantothenate kinase-associated neurodegeneration

Disease Ontology Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.

Synonyms: neurodegeneration with brain iron accumulation 1 , Pigmentary pallidal degeneration (disorder), Hallervorden-Spatz disease, Pigmentary pallidal degeneration, brain Iron Accumulation type I syndrome, Hallervorden-Spatz syndrome, NBIA1, neurodegeneration with brain iron accumulation 1

Xenbase Genes : pank2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009319 - pantothenate kinase-associated neurodegeneration

MIM:
MIM:234200 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), neurodegeneration with brain iron accumulation (is_a)