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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 CTD Direct Evidence: marker/mechanism
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		 CTD
OMIM
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 19100
    disease of anatomical entity 18440
      hematopoietic system disease 3822
        polycythemia 29
          hypermanganesemia with dystonia 1 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2625
              Dyskinesias 2227
                dystonia 503
                  hypermanganesemia with dystonia 2
                    hypermanganesemia with dystonia 1 1
paths to the root