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

Echinobase Genes :


OMIM:

MIM:234200 - neurodegeneration with brain iron accumulation 1; nbia1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee