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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 7
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Accession:DOID:9004515 term browser browse the term
Synonyms:exact_synonym: LVNC7
 primary_id: OMIM:615092
 alt_id: RDO:9000514
 xref: NCI:C157266
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Left Ventricular Noncompaction 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by OMIM:615092
ClinVar Annotator: match by term: Left ventricular noncompaction 7
OMIM
ClinVar
PMID:23314057, PMID:25741868, PMID:28492532 NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
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 7 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 7 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.