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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: brain Iron Accumulation type I syndrome, Hallervorden-Spatz disease, Hallervorden-Spatz syndrome, NBIA1, neurodegeneration with brain iron accumulation 1, neurodegeneration with brain iron accumulation 1 , Pigmentary pallidal degeneration, Pigmentary pallidal degeneration (disorder)
Xenbase Genes
:
pank2
| MONDO:0009319 - pantothenate kinase-associated neurodegeneration |
| 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, Ontobee
Parent(s):
autosomal recessive disease (is_a),
neurodegeneration with brain iron accumulation (is_a)