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Metadata
ID DOID:0110737
Name neurodegeneration with brain iron accumulation 3
Definition A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33.
https://www.ncbi.nlm.nih.gov/pubmed/16116125
Xrefs

MESH:C548080

MIM:606159

ORDO:157846

SNOMEDCT_US_2023_03_01:699299001

UMLS_CUI:C1853578

Subsets

DO_rare_slim

Synonyms

Adult basal ganglia disease [EXACT]

Ferritin-related neurodegeneration [EXACT]

Hereditary ferritinopathy [EXACT]

NBIA3 [EXACT]

Neuroferritinopathy [EXACT]

Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset [EXACT]

Parent Relationships

is_a neurodegeneration with brain iron accumulation

is_a autosomal dominant disease

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