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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:Manganese Poisoning
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Accession:DOID:9000304 term browser browse the term
Definition:Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON'S DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)
Synonyms:exact_synonym: Manganese Neurotoxicity Syndrome;   Manganese Neurotoxicity Syndromes;   Nervous System Diseases, Manganese Induced;   Nervous System Poisoning, Manganese
 primary_id: MESH:D020149;   RDO:0007318
 xref: EFO:1001808


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Manganese Poisoning term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase IEP protein:decreased activity:striatum (rat) RGD PMID:18778733 RGD:4144152 NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22285144 NCBI chr 5:158,575,727...158,595,157
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19442826 NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12171760 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Htt huntingtin ISO CTD Direct Evidence: therapeutic CTD PMID:19845833 NCBI chr14:80,070,456...80,219,668
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18041089 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18041089 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mfn2 mitofusin 2 IEP protein:decreased expression:striatum (rat) RGD PMID:28232070 RGD:12910738 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15010209 PMID:22174044 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: therapeutic CTD PMID:20089134 NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28860195 PMID:29429640 NCBI chr13:99,529,664...99,584,442
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Slc31a1 solute carrier family 31 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22465424 NCBI chr 5:80,830,574...80,859,810
Ensembl chr 5:75,814,743...75,844,228 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28860195 NCBI chr15:51,786,517...51,833,260
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29429640 NCBI chr 2:226,845,686...226,992,668
Ensembl chr 2:224,256,654...224,319,129 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23934647 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18041089 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Chemically-Induced Disorders 1462
      Poisoning 790
        Manganese Poisoning 16
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        toxic encephalopathy 248
          Heavy Metal Poisoning, Nervous System 86
            Manganese Poisoning 16
paths to the root