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Standards Ontologies Notations
neurodegeneration with brain iron accumulation

Summary
Synonym
  • NBIA
Definition
A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
Super Class
neurodegenerative disease
Disease Ontology
DOID:0110734
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1384 CRAT carnitine O-acetyltransferase
2495 FTH1 ferritin heavy chain 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
85021 REPS1 RALBP1 associated Eps domain containing 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14319 Fth1 ferritin heavy polypeptide 1
19707 Reps1 RalBP1 associated Eps domain containing protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
311849 Crat carnitine O-acetyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
854822 PAN1 Pan1p
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024