Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 OMIM
ClinVar
PMID:11040156, PMID:18392750, PMID:22341971, PMID:22341972, PMID:28492532, PMID:30272946 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
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 ClinVar
OMIM
PMID:28541650, PMID:29685658 NCBI chr15:51,982,872...52,029,841
Ensembl chr15:51,982,982...52,029,816
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 CTD PMID:22341971, PMID:22926781 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          metal metabolism disorder 117
            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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  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

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.