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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 IAGP ClinVar Annotator: match by term: Cardiomyopathy, apical hypertrophic, and neuropathy ClinVar PMID:21686774 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, apical hypertrophic, and neuropathy ClinVar
OMIM
PMID:21686774 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 21668
    disease of anatomical entity 20318
      nervous system disease 16312
        peripheral nervous system disease 3292
          Apical Hypertrophic Cardiomyopathy and Neuropathy 2
Path 2
Term Annotations click to browse term
  disease 21668
    disease of anatomical entity 20318
      cardiovascular system disease 4307
        vascular disease 3099
          artery disease 1995
            aortic disease 707
              aortic valve disease 339
                aortic valve stenosis 314
                  subvalvular aortic stenosis 260
                    hypertrophic cardiomyopathy 259
                      familial hypertrophic cardiomyopathy 123
                        Apical Hypertrophic Cardiomyopathy and Neuropathy 2
paths to the root