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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


show annotations for term's descendants           Sort by:
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 chr13:70,094,073...70,173,581
Ensembl chr13:70,094,079...70,173,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 0
      cardiovascular system disease 4336
        heart disease 3050
          cardiomyopathy 1238
            Hypertaurinuric Cardiomyopathy 1
Path 2
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12325
        genetic disease 11991
          inherited metabolic disorder 5479
            amino acid metabolic disorder 1489
              Hypertaurinuric Cardiomyopathy 1
paths to the root