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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:Diaphragmatic Hernia
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Accession:DOID:9009073 term browser browse the term
Definition:Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.
Synonyms:exact_synonym: Diaphragmatic Hernias
 primary_id: MESH:D006548
 xref: EFO:0008561

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show annotations for term's descendants           Sort by:
Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463 		JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chrNW_004624816:2,326,059...2,329,525
Ensembl chrNW_004624816:2,326,010...2,329,544 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chrNW_004624827:1,704,733...1,893,579 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chrNW_004624733:18,599,186...18,633,065
Ensembl chrNW_004624733:18,599,557...18,633,016 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chrNW_004624741:22,645,580...22,649,722
Ensembl chrNW_004624741:22,645,519...22,649,854 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004624739:3,461,779...3,464,543
Ensembl chrNW_004624739:3,461,800...3,464,785 		JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004624795:5,050,272...5,072,614
Ensembl chrNW_004624795:5,048,920...5,068,708 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004624772:6,298,113...6,311,614
Ensembl chrNW_004624772:6,305,550...6,309,906 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004624790:5,901,809...6,007,847
Ensembl chrNW_004624790:5,902,077...6,003,591 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004624754:10,152,635...10,885,239
Ensembl chrNW_004624754:10,153,809...10,885,079 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004624787:6,797,462...6,998,859
Ensembl chrNW_004624787:6,798,938...6,998,697 		JBrowse link
G Myod1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chrNW_004624838:300,902...304,944
Ensembl chrNW_004624838:300,458...305,517 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:lung		 CTD
RGD		 PMID:7576705 PMID:8863223 RGD:5132862 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chrNW_004624818:1,147,654...1,149,722
Ensembl chrNW_004624818:1,147,974...1,148,927 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004624768:7,713,771...7,728,102
Ensembl chrNW_004624768:7,701,674...7,728,408 		JBrowse link
G Pax3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944 		JBrowse link
G Rxra retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chrNW_004624760:2,379,809...2,455,749
Ensembl chrNW_004624760:2,380,708...2,456,928 		JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846 		JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655 		JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004624733:20,683,680...21,293,663
Ensembl chrNW_004624733:20,683,814...21,291,088 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004624781:304,890...413,655
Ensembl chrNW_004624781:389,481...413,728 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung		 CTD
RGD		 PMID:10646786 PMID:19635314 RGD:4145129 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004624795:3,109,663...3,132,494
Ensembl chrNW_004624795:3,108,854...3,132,464 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004624788:1,950,888...2,348,895
Ensembl chrNW_004624788:1,950,890...2,349,343 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chrNW_004624761:25,786,028...25,797,641
Ensembl chrNW_004624761:25,784,257...25,797,549 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic | ClinVar Annotator: match by term: PLS3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:37751738 NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622 		JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:33443296 NCBI chrNW_004624755:26,134,957...26,145,746
Ensembl chrNW_004624755:26,135,505...26,144,325 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004624746:2,599,211...2,603,031
Ensembl chrNW_004624746:2,599,106...2,603,336 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624757:12,529,475...12,973,751
Ensembl chrNW_004624757:12,532,466...12,972,918 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532 NCBI chrNW_004624736:18,975,104...19,346,159
Ensembl chrNW_004624736:18,989,320...19,132,416 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chrNW_004624920:1,683,342...1,908,602
Ensembl chrNW_004624920:1,683,351...1,904,557 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:23426975 NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH ClinVar PMID:22158542 PMID:24385578 PMID:25741868 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004624748:8,154,288...8,223,226
Ensembl chrNW_004624748:8,155,107...8,223,259 		JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512 		JBrowse link
G Igfbp5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004624823:8,434,614...8,454,879
Ensembl chrNW_004624823:8,434,635...8,454,747 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chrNW_004624819:6,886,328...7,365,537
Ensembl chrNW_004624819:6,889,658...7,365,537 		JBrowse link
G Kif7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187		 RGD
MouseDO		 PMID:25921351 RGD:11553839 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 More... NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chrNW_004624747:4,090,664...4,135,822
Ensembl chrNW_004624747:4,093,279...4,134,876 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624768:7,713,771...7,728,102
Ensembl chrNW_004624768:7,701,674...7,728,408 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 More... NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		JBrowse link
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30345601 NCBI chrNW_004624795:3,399,648...3,408,277
Ensembl chrNW_004624795:3,399,699...3,408,277 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004624754:20,810,398...20,815,182
Ensembl chrNW_004624754:20,808,701...20,815,206 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004624927:888,421...903,657
Ensembl chrNW_004624927:888,141...903,659 		JBrowse link
G Sftpb surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914 		JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266 		JBrowse link
G Slit3 slit guidance ligand 3 ISO mRNA:increased expression:lung
OMIM:142340 | OMIM:222400 | OMIM:610187		 RGD
MouseDO		 PMID:19944214 RGD:243048459 NCBI chrNW_004624733:20,683,680...21,293,663
Ensembl chrNW_004624733:20,683,814...21,291,088 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958 		JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367 		JBrowse link
G Sox7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624758:24,556,436...24,562,204
Ensembl chrNW_004624758:24,556,010...24,562,213 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004624817:931,686...952,474
Ensembl chrNW_004624817:932,970...952,326 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
Diaphragmatic Hernia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 3 OMIM
ClinVar		 PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 More... NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
Diaphragmatic Hernia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: ALDH1A2-related condition | ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33565183 NCBI chrNW_004624781:13,756,469...13,845,253
Ensembl chrNW_004624781:13,756,390...13,845,479 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chrNW_004624753:27,283,570...27,423,118
Ensembl chrNW_004624753:27,283,871...27,375,897 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chrNW_004624787:6,797,462...6,998,859
Ensembl chrNW_004624787:6,798,938...6,998,697 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chrNW_004624734:9,628,487...9,630,821
Ensembl chrNW_004624734:9,628,653...9,630,757 		JBrowse link
G Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chrNW_004624825:4,715,133...4,721,884
Ensembl chrNW_004624825:4,714,993...4,721,884 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004624745:27,795,205...27,822,468
Ensembl chrNW_004624745:27,795,833...27,820,228 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 NCBI chrNW_004624768:17,866,043...17,902,282
Ensembl chrNW_004624768:17,889,907...17,901,673 		JBrowse link
G Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004624768:18,007,098...18,054,320
Ensembl chrNW_004624768:18,030,118...18,054,346 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chrNW_004624768:17,866,043...17,902,282
Ensembl chrNW_004624768:17,889,907...17,901,673 		JBrowse link
G Znf592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chrNW_004624768:18,007,098...18,054,320
Ensembl chrNW_004624768:18,030,118...18,054,346 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition ClinVar PMID:28492532 PMID:31481669 NCBI chrNW_004624764:20,509,478...20,510,619
Ensembl chrNW_004624764:20,509,293...20,510,619 		JBrowse link
G Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chrNW_004624764:20,504,732...20,509,360
Ensembl chrNW_004624764:20,504,732...20,509,389 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chrNW_004624825:4,715,133...4,721,884
Ensembl chrNW_004624825:4,714,993...4,721,884 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chrNW_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chrNW_004624745:27,795,205...27,822,468
Ensembl chrNW_004624745:27,795,833...27,820,228 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chrNW_004624948:556,054...604,381
Ensembl chrNW_004624948:556,127...601,540 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chrNW_004624775:19,589,496...19,647,823
Ensembl chrNW_004624775:19,589,372...19,648,884 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chrNW_004624734:9,628,487...9,630,821
Ensembl chrNW_004624734:9,628,653...9,630,757 		JBrowse link
hiatus hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Barx1 BARX homeobox 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,679,590...2,683,155
Ensembl chrNW_004624868:2,679,590...2,683,079 		JBrowse link
G Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,996,907...3,103,289
Ensembl chrNW_004624868:2,996,903...3,103,279 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624753:16,019,546...16,048,096
Ensembl chrNW_004624753:16,016,022...16,048,104 		JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624753:15,981,008...16,010,389
Ensembl chrNW_004624753:15,980,116...16,010,489 		JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624819:252,407...339,380 JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,890,730...2,992,788
Ensembl chrNW_004624868:2,890,612...2,975,988 		JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004624868:2,414,320...2,517,703
Ensembl chrNW_004624868:2,414,265...2,487,620 		JBrowse link
spondylocostal dysostosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: DLL3-related disorder | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive OMIM
ClinVar		 PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 More... NCBI chrNW_004624794:12,806,299...12,816,048
Ensembl chrNW_004624794:12,806,868...12,815,582 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624768:16,832,008...16,834,697
Ensembl chrNW_004624768:16,830,795...16,834,798 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624794:12,740,657...12,754,281
Ensembl chrNW_004624794:12,742,905...12,754,662 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chrNW_004624799:10,750,928...10,755,797 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    Pathological Conditions, Signs and Symptoms 11246
      Anatomical Pathological Conditions 2488
        enterocele 176
          Diaphragmatic Hernia 112
            Complete Agenesis of Diaphragm 0
            Diaphragmatic Hernia, Traumatic 0
            Fryns Syndrome 0
            congenital diaphragmatic hernia + 61
            hiatus hernia + 19
            spondylocostal dysostosis 1 4
Path 2
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      Urogenital Diseases 4530
        Female Urogenital Diseases and Pregnancy Complications 2389
          Female Urogenital Diseases 1987
            female reproductive system disease 1984
              prolapse of female genital organ 176
                enterocele 176
                  Diaphragmatic Hernia 112
                    Complete Agenesis of Diaphragm 0
                    Diaphragmatic Hernia, Traumatic 0
                    Fryns Syndrome 0
                    congenital diaphragmatic hernia + 61
                    hiatus hernia + 19
                    spondylocostal dysostosis 1 4
paths to the root