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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      congenital heart disease 1075
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction 99
            Left Ventricular Noncompaction 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        Congenital Abnormalities 4788
          Cardiovascular Abnormalities 1130
            congenital heart disease 1075
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction 99
                  Left Ventricular Noncompaction 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.