Metadata | |
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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 | |
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 |