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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:Hypertaurinuric Cardiomyopathy
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Accession:DOID:9004496 term browser browse the term
Synonyms:primary_id: MESH:C564157
 alt_id: OMIM:145350

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Hypertaurinuric Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy OMIM
ClinVar		 PMID:25741868 PMID:31345061 PMID:31903486 NCBI chrNW_004955429:17,097,753...17,130,079
Ensembl chrNW_004955429:17,098,268...17,130,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14196
    disease of anatomical entity 13851
      cardiovascular system disease 4080
        heart disease 2858
          cardiomyopathy 1146
            Hypertaurinuric Cardiomyopathy 1
Path 2
Term Annotations click to browse term
  disease 14196
    Developmental Disease 12386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11617
        genetic disease 11308
          inherited metabolic disorder 5184
            amino acid metabolic disorder 1418
              Hypertaurinuric Cardiomyopathy 1
paths to the root