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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 1
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Accession:DOID:9007288 term browser browse the term
Synonyms:exact_synonym: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS;   LVNC1
 primary_id: OMIM:604169
For additional species annotation, visit the Alliance of Genome Resources.


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Left Ventricular Noncompaction 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273
JBrowse link
G DTNA dystrobrevin alpha ISO OMIM NCBI chr 7:55,068,555...55,420,377
Ensembl chr 7:55,069,462...55,420,259
JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:34,367,155...34,421,992
Ensembl chr 4:34,364,025...34,421,509
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:19,364,146...19,468,827
Ensembl chr 4:19,381,416...19,465,995
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr27:16,023,186...16,109,978
Ensembl chr27:16,023,224...16,109,603
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr23:8,278,844...8,374,614
Ensembl chr23:8,280,793...8,358,560
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12734
    physical disorder 2362
      congenital heart disease 993
        Isolated Noncompaction of the Ventricular Myocardium 98
          left ventricular noncompaction 97
            Left Ventricular Noncompaction 1 7
Path 2
Term Annotations click to browse term
  disease 12734
    Developmental Diseases 9026
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7894
        genetic disease 7458
          monogenic disease 5466
            X-linked monogenic disease 883
              Isolated Noncompaction of the Ventricular Myocardium 98
                left ventricular noncompaction 97
                  Left Ventricular Noncompaction 1 7
paths to the root