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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 1
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Accession:DOID:0080536 term browser browse the term
Definition:A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: HMDPC;   HMNDYT1;   Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia;   Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia;   Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis;   dystonia-parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease;   parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease
 primary_id: OMIM:613280
 alt_id: DOID:9003227;   MESH:C548016


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 LOC129388752 MPRA-validated peak704 silencer IAGP ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis ClinVar NCBI chr 1:219,835,413...219,835,613 JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP
EXP		 ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      hematopoietic system disease 4986
        polycythemia 47
          hypermanganesemia with dystonia 1 2
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            movement disease 3285
              Dyskinesias 2692
                dystonia 510
                  hypermanganesemia with dystonia 3
                    hypermanganesemia with dystonia 1 2
paths to the root