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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:Apical Hypertrophic Cardiomyopathy
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Accession:DOID:9006306 term browser browse the term
Definition:A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as "ace of spades" sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY.
Synonyms:exact_synonym: Apical Hypertrophic Cardiomyopathies;   Apical-Variant HCM;   Left Ventricular Apical Hypertrophic Cardiomyopathy
 primary_id: MESH:D000092183


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Apical Hypertrophic Cardiomyopathy and Neuropathy 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 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          familial hypertrophic cardiomyopathy 135
            Apical Hypertrophic Cardiomyopathy 2
              Apical Hypertrophic Cardiomyopathy and Neuropathy 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        vascular disease 4013
          artery disease 2825
            aortic disease 792
              aortic valve disease 379
                aortic valve stenosis 357
                  subvalvular aortic stenosis 294
                    hypertrophic cardiomyopathy 292
                      familial hypertrophic cardiomyopathy 135
                        Apical Hypertrophic Cardiomyopathy 2
                          Apical Hypertrophic Cardiomyopathy and Neuropathy 2
paths to the root