ONTOLOGY REPORT - ANNOTATIONS


Term:diaphragm disease
go back to main search page
Accession:DOID:10481 term browser browse the term
Definition:A muscular disease that is located_in the diaphragm. (DO)
Synonyms:primary_id: RDO:9003116
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital diaphragmatic hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12859277
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:6903875
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11341670
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068407
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11038813
G Ccn2 cellular communication network factor 2 JBrowse link 1 21,851,657 21,854,773 RGD:11554173
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
RGD:8554872
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585688
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:9588310
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Fgfrl1 fibroblast growth factor receptor-like 1 JBrowse link 14 2,020,110 2,032,169 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:11554173
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554181
RGD:8554872
RGD:11554173
RGD:11554195
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:9068407
RGD:8554872
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904929
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:10402563
G Igf2r insulin-like growth factor 2 receptor JBrowse link 1 48,176,095 48,264,482 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:10402761
G Igfbp5 insulin-like growth factor binding protein 5 JBrowse link 9 80,154,230 80,166,813 RGD:10402761
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:11554173
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 JBrowse link 9 27,565,869 28,141,114 RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:11553839
RGD:13592920
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:13592920
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:11554173
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:13504720
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 JBrowse link 1 131,447,671 131,465,749 RGD:13592920
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:8554872
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:13592920
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase JBrowse link 20 8,165,423 8,169,557 RGD:11554173
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:11554173
G Robo4 roundabout guidance receptor 4 JBrowse link 8 39,082,693 39,093,344 RGD:8554872
G Slit3 slit guidance ligand 3 JBrowse link 10 19,924,200 20,517,918 RGD:13592920
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11035301
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11035301
G Sox7 SRY box 7 JBrowse link 15 47,293,699 47,300,460 RGD:13592920
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904053
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7421593
G Wnt11 Wnt family member 11 JBrowse link 1 163,794,136 163,813,756 RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:13592920
Diaphragmatic Hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:11554173
G Agtr1b angiotensin II receptor, type 1b JBrowse link 2 105,149,020 105,224,335 RGD:11554173
G Aqp5 aquaporin 5 JBrowse link 7 141,249,044 141,252,576 RGD:11554173
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:11554173
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11554173
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:11554173
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:11554173
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:11554173
G Fgf18 fibroblast growth factor 18 JBrowse link 10 18,047,109 18,082,290 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Foxa2 forkhead box A2 JBrowse link 3 142,383,084 142,387,493 RGD:11554173
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:8554872
RGD:11554173
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
G Hoxa5 homeo box A5 RGD:11554173
G Hoxb3 homeo box B3 JBrowse link 10 84,170,629 84,196,823 RGD:11554173
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Kcna2 potassium voltage-gated channel subfamily A member 2 JBrowse link 2 209,838,607 209,852,471 RGD:11554173
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link 3 163,850,785 163,935,610 RGD:11554173
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:11554173
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myod1 myogenic differentiation 1 JBrowse link 1 102,396,538 102,399,248 RGD:9686080
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:1600158
RGD:11554173
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:5132862
RGD:11554173
G Nppa natriuretic peptide A JBrowse link 5 164,808,407 164,809,716 RGD:11554173
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 JBrowse link 1 131,447,671 131,465,749 RGD:11554173
G Pax3 paired box 3 JBrowse link 9 84,004,004 84,101,226 RGD:1580942
G Rxra retinoid X receptor alpha JBrowse link 3 6,272,560 6,295,354 RGD:1643107
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:11554173
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:11554173
G Slit3 slit guidance ligand 3 JBrowse link 10 19,924,200 20,517,918 RGD:11554173
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145129
RGD:11554173
G Thra thyroid hormone receptor alpha JBrowse link 10 86,657,285 86,684,935 RGD:11554173
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Uchl1 ubiquitin C-terminal hydrolase L1 JBrowse link 14 43,133,224 43,143,942 RGD:11554173
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:11554173
Diaphragmatic Hernia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:7240710
RGD:8554872
Donnai-Barrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Lrp2 LDL receptor related protein 2 JBrowse link 3 55,665,153 55,822,484 RGD:7240710
RGD:8554872
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
RGD:11554173
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
RGD:11554173
Galloway-Mowat Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:7240710
RGD:8554872
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
Galloway-Mowat syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:8554872
RGD:7240710
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:7240710
RGD:8554872
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link 19 56,681,965 56,731,404 RGD:7240710
Jarcho-Levin Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dll3 delta like canonical Notch ligand 3 JBrowse link 1 85,485,875 85,493,683 RGD:8554872
RGD:7240710
G Mesp2 mesoderm posterior bHLH transcription factor 2 JBrowse link 1 141,550,633 141,553,239 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        muscular disease 908
          diaphragm disease 94
            Diaphragmatic Hernia + 94
            diaphragmatic eventration + 0
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        peripheral nervous system disease 2015
          neuropathy 1836
            neuromuscular disease 1412
              muscular disease 908
                diaphragm disease 94
                  Diaphragmatic Hernia + 94
                  diaphragmatic eventration + 0
paths to the root

NHLBI Logo

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