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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:neurodegeneration with brain iron accumulation
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Accession:DOID:0110734 term browser browse the term
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. (DO)
Synonyms:exact_synonym: NBIA;   Neurodegeneration with brain iron accumulation (NBIA)
 narrow_synonym: Neuroaxonal dystrophy, PLA2G6-related;   Neurodegeneration with brain iron accumulation 1, atypical
 related_synonym: Iron Accumulation In Brain
 primary_id: MESH:C538421
 alt_id: OMIA:002105;   RDO:0004395
 xref: GARD:11899;   OMIM:PS234200;   ORDO:385
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
neurodegeneration with brain iron accumulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Iron accumulation in brain ClinVar PMID:32581362 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706 		JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:25741868 PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical
ClinVar Annotator: match by term: Iron accumulation in brain
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:20629144 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation		 ClinVar PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18799783 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20886109 PMID:20947703 PMID:22934738 PMID:24033266 PMID:24108619 PMID:24745848 PMID:25164370 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25741868 PMID:26668131 PMID:27196560 PMID:27378808 PMID:28492532 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29915382 PMID:30340910 PMID:30619057 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347 		JBrowse link
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation ClinVar PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347 		JBrowse link
G Wdr45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation		 CTD
ClinVar		 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:28492532 PMID:28711740 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235 		JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236		 OMIM
ClinVar		 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:14638969 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386 PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797 		JBrowse link
neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
DNA:deletions, missense mutations, nonsense mutation: exon:multiple		 OMIM
ClinVar		 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22934738 PMID:23182313 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24745848 PMID:25164370 PMID:25174650 PMID:25326635 PMID:25326637 PMID:25660576 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633545 PMID:26668131 PMID:27127721 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27709683 PMID:27942883 PMID:28295203 PMID:28492532 PMID:28821231 PMID:29124790 PMID:29454663 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:32860008, PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Seitelberger disease ClinVar PMID:12955720 PMID:15689448 PMID:16783378 PMID:18484607 PMID:19881469 PMID:20301515 PMID:20301718 PMID:20301788 PMID:21735565 PMID:21943391 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411 		JBrowse link
neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
ClinVar Annotator: match by OMIM:610217		 OMIM
ClinVar		 PMID:16783378 PMID:17033970 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:24088041 PMID:24745848 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30619057 PMID:32581362 PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347 		JBrowse link
neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar Annotator: match by OMIM:606159
DNA:duplication:cds:458dupA(human)
DNA:mutations:exon:		 ClinVar
OMIM		 PMID:11438811 PMID:12746423 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:25741868 PMID:28492532, PMID:17142829, PMID:18854324, PMID:19117339 RGD:5509859, RGD:5509860, RGD:5509861 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092 		JBrowse link
neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by OMIM:614298		 OMIM
ClinVar		 PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:30088953 PMID:30392167 PMID:31087512 PMID:32581362 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219 		JBrowse link
neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar NCBI chr  X:15,471,212...15,504,372
Ensembl chr  X:15,471,211...15,504,165 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration
ClinVar Annotator: match by OMIM:300894		 OMIM
ClinVar		 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29981852 PMID:30311386 PMID:30612247 PMID:30713893 NCBI chr  X:15,621,249...15,627,159
Ensembl chr  X:15,621,209...15,627,235 		JBrowse link
neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
ClinVar Annotator: match by OMIM:615643		 OMIM
ClinVar		 PMID:24360804 PMID:25741868 PMID:28489334 PMID:28492532 NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 ClinVar
OMIM		 PMID:25741868 PMID:29395073 NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347 		JBrowse link
Neurodegeneration with Brain Iron Accumulation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM
ClinVar		 PMID:25741868 PMID:29395073 NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362 		JBrowse link
pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301187 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12811783 PMID:14580665 PMID:14638969 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:17903678 PMID:19224615 PMID:20193558 PMID:20603201 PMID:20629144 PMID:21198414 PMID:21459825 PMID:21480873 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22682757 PMID:23634310 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24348190 PMID:24712887 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26795593 PMID:26828213 PMID:27185474 PMID:28094106 PMID:28357202 PMID:28492532 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28881514 PMID:29590070 PMID:30311386 PMID:30681573 PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        neurodegenerative disease 3235
          neurodegeneration with brain iron accumulation 15
            Neurodegeneration with Brain Iron Accumulation 7 1
            Neurodegeneration with Brain Iron Accumulation 8 1
            neurodegeneration with brain iron accumulation 2A 2
            neurodegeneration with brain iron accumulation 2B 1
            neurodegeneration with brain iron accumulation 3 2
            neurodegeneration with brain iron accumulation 4 1
            neurodegeneration with brain iron accumulation 5 2
            neurodegeneration with brain iron accumulation 6 1
            pantothenate kinase-associated neurodegeneration + 4
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            cerebral degeneration 276
              neuroaxonal dystrophy 33
                neurodegeneration with brain iron accumulation 15
                  Neurodegeneration with Brain Iron Accumulation 7 1
                  Neurodegeneration with Brain Iron Accumulation 8 1
                  neurodegeneration with brain iron accumulation 2A 2
                  neurodegeneration with brain iron accumulation 2B 1
                  neurodegeneration with brain iron accumulation 3 2
                  neurodegeneration with brain iron accumulation 4 1
                  neurodegeneration with brain iron accumulation 5 2
                  neurodegeneration with brain iron accumulation 6 1
                  pantothenate kinase-associated neurodegeneration + 4
paths to the root