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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:infantile hypertrophic cardiomyopathy
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Accession:DOID:0111753 term browser browse the term
Definition:A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)
Synonyms:primary_id: MIM:500006


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infantile hypertrophic cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35758
    disease of anatomical entity 32522
      cardiovascular system disease 6090
        heart disease 4434
          cardiomyopathy 1585
            intrinsic cardiomyopathy 1166
              hypertrophic cardiomyopathy 374
                infantile hypertrophic cardiomyopathy 2
Path 2
Term Annotations click to browse term
  disease 35758
    disease of anatomical entity 32522
      cardiovascular system disease 6090
        vascular disease 3878
          artery disease 2592
            aortic disease 1082
              aortic valve disease 589
                aortic valve stenosis 548
                  subvalvular aortic stenosis 376
                    hypertrophic cardiomyopathy 374
                      infantile hypertrophic cardiomyopathy 2
paths to the root