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DOID:0110735 - neurodegeneration with brain iron accumulation 2a
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 and is characterized by onset in the first 2 years of life.
Synonyms: INAD1, Infantile Neuroaxonal Dystrophy 1, NBIA2a, Neurodegeneration, Pla2g6-Associated, Seitelberger Disease
Xenbase Genes : pla2g6
MONDO:0024457 - neurodegeneration with brain iron accumulation 2A |
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)