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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 and Neuropathy
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Accession:DOID:9008137 term browser browse the term
Synonyms:primary_id: OMIM:516070
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
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 OMIM
ClinVar
PMID:21686774 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 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          Apical Hypertrophic Cardiomyopathy and Neuropathy 2
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      cardiovascular system disease 4518
        vascular disease 3437
          artery disease 2402
            aortic disease 612
              aortic valve disease 297
                aortic valve stenosis 272
                  subvalvular aortic stenosis 219
                    hypertrophic cardiomyopathy 218
                      familial hypertrophic cardiomyopathy 91
                        Apical Hypertrophic Cardiomyopathy and Neuropathy 2
paths to the root