Neuroferritinopathy

Definition

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.

Also known as adult basal ganglia disease, ferritin-related neurodegeneration, hereditary ferritinopathy, NBIA3, neurodegeneration with brain iron accumulation type 3, neuroferritinopathy — per MONDO

Also identified as

• DOID 0110737 per MONDO
• ICD9 333.0 per MONDO
• MESH C548080 per MONDO
• OMIM 606159 per MONDO
• Orphanet 157846 per MONDO
• SCTID 699299001 per MONDO
• UMLS C1853578 per MONDO