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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
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Accession:DOID:0080535 term browser browse the term
Definition:A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. (DO)
Synonyms:xref: OMIM:PS613280
For additional species annotation, visit the Alliance of Genome Resources.



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hypermanganesemia with dystonia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO OMIM NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
hypermanganesemia with dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 OMIM
ClinVar
PMID:25741868 PMID:27431290 PMID:28492532 PMID:28541650 PMID:29498153 More... NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524
JBrowse link
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
ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
CTD
ClinVar
PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          metal metabolism disorder 138
            hypermanganesemia with dystonia 2
              Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 1
              hypermanganesemia with dystonia 1 1
              hypermanganesemia with dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            movement disease 1738
              Dyskinesias 1393
                dystonia 270
                  hypermanganesemia with dystonia 2
                    Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 1
                    hypermanganesemia with dystonia 1 1
                    hypermanganesemia with dystonia 2 1
paths to the root