ONTOLOGY REPORT - ANNOTATIONS


Term:Isolated Noncompaction of the Ventricular Myocardium
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Accession:DOID:9000596 term browser browse the term
Definition:Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.
Synonyms:exact_synonym: Isolated Non-compaction of the Ventricular Myocardium;   Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked;   Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant
 primary_id: MESH:D056830;   RDO:0007762
For additional species annotation, visit the Alliance of Genome Resources.


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Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 JBrowse link 4 124,005,287 124,030,349 RGD:7775017
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:8554872
left ventricular noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:13592920
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:13592920
Left Ventricular Noncompaction 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
RGD:7240710
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
Left Ventricular Noncompaction 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:7240710
RGD:8554872
Left Ventricular Noncompaction 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Left Ventricular Noncompaction 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mib1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 18 1,970,914 2,094,920 RGD:7240710
RGD:8554872
Left Ventricular Noncompaction 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      congenital heart disease 729
        Isolated Noncompaction of the Ventricular Myocardium 37
          Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 0
          Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 0
          left ventricular noncompaction + 36
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              Isolated Noncompaction of the Ventricular Myocardium 37
                Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 0
                Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 0
                left ventricular noncompaction + 36
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.