Search Ontology:
Human Disease
neurodegeneration with brain iron accumulation 3
- Term ID
- DOID:0110737
- Synonyms
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- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy
- NBIA3
- Neuroferritinopathy
- Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
- 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
- References
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- MESH:C548080
- MIM:606159
- ORDO:157846
- SNOMEDCT_US_2023_03_01:699299001
- UMLS_CUI:C1853578
- Ontology
- Human Disease ( DOID:0110737 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models