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Metadata
ID DOID:0110736
Name neurodegeneration with brain iron accumulation 2b
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.
https://www.ncbi.nlm.nih.gov/pubmed/18799783
Xrefs

ICD10CM:G23.0

OMIM:610217

Synonyms

NBIA2b [EXACT]

Neuroaxonal Dystrophy, Atypical [EXACT]

Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related [EXACT]

Parent Relationships

is_a neurodegeneration with brain iron accumulation

is_a autosomal recessive disease

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