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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: MIM:613280
 alt_id: DOID:9003227;   MESH:C548016


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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 ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis OMIM
ClinVar		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22934317 More... NCBI chr10:9,527,523...9,545,493 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      hematopoietic system disease 3615
        polycythemia 25
          hypermanganesemia with dystonia 1 1
Path 2
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      nervous system disease 13228
        central nervous system disease 11814
          brain disease 11097
            movement disease 2500
              Dyskinesias 2129
                dystonia 491
                  hypermanganesemia with dystonia 2
                    hypermanganesemia with dystonia 1 1
paths to the root