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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:Left Ventricular Noncompaction 2
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Accession:DOID:9002521 term browser browse the term
Synonyms:exact_synonym: LVNC2
 primary_id: OMIM:609470
 alt_id: RDO:0009323


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Left Ventricular Noncompaction 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTN titin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 2 ClinVar PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 PMID:26701604 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital heart disease 1341
        Isolated Noncompaction of the Ventricular Myocardium 106
          left ventricular noncompaction 104
            Left Ventricular Noncompaction 2 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            X-linked monogenic disease 1336
              Isolated Noncompaction of the Ventricular Myocardium 106
                left ventricular noncompaction 104
                  Left Ventricular Noncompaction 2 1
paths to the root