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Metadata
ID DOID:0110740
Name neurodegeneration with brain iron accumulation 6
Definition A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
https://www.ncbi.nlm.nih.gov/pubmed/24360804
Xrefs

ICD10CM:G23.0

MIM:615643

ORDO:397725

Subsets

DO_rare_slim

Synonyms

COASY protein-associated neurodegeneration [EXACT]

CoPAN [EXACT]

NBIA6 [EXACT]

Neurodegeneration with brain iron accumulation due to COASY mutation [EXACT]

Parent Relationships

is_a neurodegeneration with brain iron accumulation

is_a autosomal recessive disease

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