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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital diaphragmatic hernia
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Accession:DOID:3827 term browser browse the term
Definition:Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, nonsyndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilization and surgical intervention.
Synonyms:exact_synonym: Bochdalek hernias;   CDH;   DIH;   Diaphragm Unilateral Ageneses;   Diaphragm Unilateral Agenesis;   HCD;   Hemidiaphragm Ageneses;   Hemidiaphragm Agenesis;   Morgagni hernias;   Morgagni's hernias;   Morgagnis hernias;   agenesis of hemidiaphragm;   congenital diaphragmatic defect;   congenital diaphragmatic defects;   congenital diaphragmatic hernias;   unilateral agenesis of diaphragm
 narrow_synonym: DIAPHRAGM, COMPLETE AGENESIS OF;   DIH1;   HEMIDIAPHRAGM, AGENESIS OF DIAPHRAGMATIC HERNIA 1
 primary_id: MESH:D065630
 alt_id: DOID:9003704;   OMIM:142340;   RDO:0004014;   RDO:0015949
 xref: GARD:1481;   NCI:C34687;   ORDO:2140
For additional species annotation, visit the Alliance of Genome Resources.


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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 Cdk8 cyclin-dependent kinase 8 JBrowse link 12 10,496,273 10,561,335 RGD:8554872
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 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 transcription factor 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          congenital diaphragmatic hernia 53
            Anterior Diaphragmatic Hernia 0
            Donnai-Barrow syndrome 2
            Epidermolysis Bullosa with Diaphragmatic Hernia 0
            Kennerknecht Sorgo Oberhoffer Syndrome 0
            Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
            Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 0
            Saal Bulas Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Urogenital Diseases 3950
        Female Urogenital Diseases and Pregnancy Complications 1713
          Female Urogenital Diseases 1457
            female reproductive system disease 1453
              prolapse of female genital organ 150
                enterocele 150
                  Diaphragmatic Hernia 94
                    congenital diaphragmatic hernia 53
                      Anterior Diaphragmatic Hernia 0
                      Donnai-Barrow syndrome 2
                      Epidermolysis Bullosa with Diaphragmatic Hernia 0
                      Kennerknecht Sorgo Oberhoffer Syndrome 0
                      Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
                      Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 0
                      Saal Bulas Syndrome 0
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.