neurodegeneration with brain iron accumulation

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Information
Disease name
neurodegeneration with brain iron accumulation
Disease ID
DOID:0110734
Description
"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." [url:https\://rarediseases.info.nih.gov/diseases/11899/index, url:https\://www.ncbi.nlm.nih.gov/pubmed/18981035, url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
PANK2 20 3,888,923 3,929,887 4
WDR45 X 49,074,640 49,101,121 2
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:1289
Cross Reference ID (Disease Ontology)
GARD:11899
Cross Reference ID (Disease Ontology)
MESH:C538421
Cross Reference ID (Disease Ontology)
MIM:PS234200
Cross Reference ID (Disease Ontology)
ORDO:385
Cross Reference ID (Disease Ontology)
UMLS_CUI:C2931845
Exact Synonym (Disease Ontology)
NBIA
OMIM Phenotype Series Number (OMIM)
PS234200
OrphaNumber from OrphaNet (Orphanet)
385