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infantile hypertrophic cardiomyopathy - Ontology Report - Rat Genome Database

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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 P MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800 		JBrowse link
G D MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G R Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G M mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G H 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 P MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162 		JBrowse link
G D MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
G R Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G M mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy, infantile hypertrophic ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G H 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 288179
    disease of anatomical entity 271815
      thoracic disease 47582
        heart disease 40850
          cardiomyopathy 14211
            intrinsic cardiomyopathy 10417
              hypertrophic cardiomyopathy 3237
                infantile hypertrophic cardiomyopathy 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      cardiovascular system disease 60635
        vascular disease 42874
          artery disease 28747
            aortic disease 8953
              aortic valve disease 4324
                aortic valve stenosis 4074
                  subvalvular aortic stenosis 3257
                    hypertrophic cardiomyopathy 3237
                      infantile hypertrophic cardiomyopathy 10
paths to the root