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Metadata
ID DOID:0110738
Name neurodegeneration with brain iron accumulation 4
Definition A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
https://www.ncbi.nlm.nih.gov/pubmed/23269600
Xrefs

ICD10CM:G23.0

MIM:614298

ORDO:289560

Subsets

DO_rare_slim

Synonyms

Mitochondrial Protein-Associated Neurodegeneration [EXACT]

MPAN [EXACT]

NBIA due to C19orf12 mutation [EXACT]

NBIA4 [EXACT]

Neurodegeneration with brain iron accumulation due to C19orf12 mutation [EXACT]

Neurodegeneration with brain iron accumulation type 4 [EXACT]

Parent Relationships

is_a neurodegeneration with brain iron accumulation

is_a autosomal recessive disease

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