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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:Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis
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Accession:DOID:9003227 term browser browse the term
Synonyms:exact_synonym: Dystonia-Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease;   HMDPC;   Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia;   Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia;   Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
 primary_id: MESH:C548016
 alt_id: RDO:0004637
For additional species annotation, visit the Alliance of Genome Resources.


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Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22341971 PMID:22926781 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      hematopoietic system disease 1655
        polycythemia 26
          Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            movement disease 1158
              Dyskinesias 869
                dystonia 162
                  hypermanganesemia with dystonia 2
                    Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 1
paths to the root