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DOID:0110736 - neurodegeneration with brain iron accumulation 2b
Disease Ontology Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.
Synonyms: NBIA2b, Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related, Neuroaxonal Dystrophy, Atypical
Echinobase Genes
:
pla2g6
| MIM:610217 - neurodegeneration with brain iron accumulation 2b; nbia2b |
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)