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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_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chrNW_004955547:558,296...562,455
Ensembl chrNW_004955547:558,927...564,376 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chrNW_004955432:23,179,645...23,328,347
Ensembl chrNW_004955432:23,178,866...23,328,382 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chrNW_004955408:24,225,459...24,260,057
Ensembl chrNW_004955408:24,225,459...24,260,092 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773 		JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chrNW_004955415:29,982,940...29,987,093
Ensembl chrNW_004955415:29,982,940...29,986,255 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004955410:28,835,795...28,838,244
Ensembl chrNW_004955410:28,834,127...28,838,244 		JBrowse link
G Hoxb3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chrNW_004955451:12,651,229...12,690,941
Ensembl chrNW_004955451:12,687,364...12,689,511 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004955435:14,074,346...14,080,026
Ensembl chrNW_004955435:14,074,346...14,078,806 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004955445:8,680,979...8,779,662
Ensembl chrNW_004955445:8,680,965...8,774,110 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948 		JBrowse link
G Myod1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674 		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_004955409:24,612,490...24,616,360
Ensembl chrNW_004955409:24,612,635...24,616,430 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:7576705 PMID:8863223 RGD:5132862 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chrNW_004955486:2,061,196...2,062,805
Ensembl chrNW_004955486:2,060,735...2,063,003 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955416:24,148,052...24,154,406
Ensembl chrNW_004955416:24,141,888...24,168,585 		JBrowse link
G Pax3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006 		JBrowse link
G Rxra retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chrNW_004955513:3,313,544...3,386,544
Ensembl chrNW_004955513:3,335,897...3,386,994 		JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087 		JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837 		JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955408:21,719,487...22,322,958
Ensembl chrNW_004955408:21,722,632...22,322,917 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		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_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004955451:14,731,746...14,743,545
Ensembl chrNW_004955451:14,731,746...14,744,367 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chrNW_004955430:15,992,146...16,322,696
Ensembl chrNW_004955430:15,992,146...16,323,238 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chrNW_004955443:6,367,519...6,379,638
Ensembl chrNW_004955443:6,367,460...6,380,462 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		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 OMIM
ClinVar		 PMID:25741868 PMID:37751738 NCBI chrNW_004955490:125,913...221,152
Ensembl chrNW_004955490:122,328...221,388 		JBrowse link
congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chrNW_004955534:3,653,112...3,654,248
Ensembl chrNW_004955534:3,653,157...3,654,248 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Bap1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480 		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_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246 		JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chrNW_004955413:26,647,553...26,727,875
Ensembl chrNW_004955413:26,648,339...26,727,933 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		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_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495 		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_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648 		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_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004955460:1,528,457...1,805,584
Ensembl chrNW_004955460:1,528,412...1,805,918 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345 		JBrowse link
G Igf1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004955416:26,101,090...26,382,660
Ensembl chrNW_004955416:26,102,628...26,382,666 		JBrowse link
G Igf2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chrNW_004955439:20,754,915...20,874,759
Ensembl chrNW_004955439:20,752,855...20,851,281 		JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845 		JBrowse link
G Igfbp5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chrNW_004955453:16,530,110...16,550,733
Ensembl chrNW_004955453:16,530,110...16,550,733 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chrNW_004955488:7,406,633...7,928,526
Ensembl chrNW_004955488:7,406,635...7,927,532 		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_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955458:4,861,431...4,941,939
Ensembl chrNW_004955458:4,861,431...4,941,146 		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_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 More... NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647 		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_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:30532227 RGD:200226345 NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955415:4,017,142...4,078,927
Ensembl chrNW_004955415:3,999,473...4,060,998 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955416:24,148,052...24,154,406
Ensembl chrNW_004955416:24,141,888...24,168,585 		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_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373 		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_004955451:14,418,923...14,428,032
Ensembl chrNW_004955451:14,418,923...14,428,039 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004955437:5,940,825...5,945,367
Ensembl chrNW_004955437:5,942,106...5,945,431 		JBrowse link
G Pls3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chrNW_004955490:125,913...221,152
Ensembl chrNW_004955490:122,328...221,388 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004955532:1,300,821...1,347,453
Ensembl chrNW_004955532:1,300,462...1,347,451 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723 		JBrowse link
G Sftpb surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chrNW_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		JBrowse link
G Slit2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908 		JBrowse link
G Slit3 slit guidance ligand 3 ISO OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung		 MouseDO
RGD		 PMID:19944214 RGD:243048459 NCBI chrNW_004955408:21,719,487...22,322,958
Ensembl chrNW_004955408:21,722,632...22,322,917 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727 		JBrowse link
G Sod2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163 		JBrowse link
G Sox7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955403:52,253,816...52,259,884
Ensembl chrNW_004955403:52,253,482...52,259,884 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chrNW_004955414:15,674,478...15,694,758
Ensembl chrNW_004955414:15,674,940...15,694,883 		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_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		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_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		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: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:33565183 NCBI chrNW_004955450:16,406,578...16,453,048
Ensembl chrNW_004955450:16,406,436...16,453,180 		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_004955488:4,774,835...4,879,401
Ensembl chrNW_004955488:4,772,504...4,879,423 		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_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948 		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_004955438:15,319,033...15,321,648 JBrowse link
G Lage3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		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_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
G Tprkb TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chrNW_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		JBrowse link
G Znf592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chrNW_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		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_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694 		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_004955416:14,471,479...14,485,416
Ensembl chrNW_004955416:14,471,421...14,485,201 		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_004955416:14,328,250...14,365,346
Ensembl chrNW_004955416:14,326,603...14,365,400 		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 PMID:31481669 NCBI chrNW_004955452:15,579,225...15,580,362
Ensembl chrNW_004955452:15,579,035...15,580,362 		JBrowse link
G Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004955452:15,575,421...15,579,186
Ensembl chrNW_004955452:15,575,421...15,579,186 		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 OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		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 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chrNW_004955550:1,266,191...1,273,093
Ensembl chrNW_004955550:1,265,401...1,273,299 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chrNW_004955445:10,734,723...10,737,445
Ensembl chrNW_004955445:10,734,723...10,738,570 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb TP53RK binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chrNW_004955424:11,961,994...11,969,610
Ensembl chrNW_004955424:11,961,994...11,969,610 		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_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277 		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_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635 		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 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chrNW_004955492:8,583,902...8,641,891
Ensembl chrNW_004955492:8,583,869...8,643,433 		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_004955438:15,319,033...15,321,648 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_004955515:4,230,713...4,234,189
Ensembl chrNW_004955515:4,229,783...4,234,191 		JBrowse link
G Fam120a family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:4,531,586...4,628,646
Ensembl chrNW_004955515:4,531,586...4,629,569 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955422:21,537,337...21,569,174
Ensembl chrNW_004955422:21,536,667...21,569,433 		JBrowse link
G Fbp2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955422:21,508,906...21,530,296
Ensembl chrNW_004955422:21,505,857...21,530,302 		JBrowse link
G Mfsd14b major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955422:24,000,123...24,061,998
Ensembl chrNW_004955422:23,999,269...24,035,045 		JBrowse link
G Phf2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:4,428,068...4,471,642
Ensembl chrNW_004955515:4,429,957...4,471,641 		JBrowse link
G Ptpdc1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chrNW_004955515:3,912,495...4,044,999
Ensembl chrNW_004955515:3,912,117...4,044,999 		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 condition | 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_004955468:70,714...78,831
Ensembl chrNW_004955468:71,004...78,827 		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_004955416:15,447,959...15,450,209 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_004955468:138,262...149,480
Ensembl chrNW_004955468:138,542...149,686 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chrNW_004955411:11,418,744...11,422,766 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Anatomical Pathological Conditions 2309
        enterocele 174
          Diaphragmatic Hernia 111
            Complete Agenesis of Diaphragm 0
            Diaphragmatic Hernia, Traumatic 0
            Fryns Syndrome 0
            congenital diaphragmatic hernia + 60
            hiatus hernia + 20
            spondylocostal dysostosis 1 4
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4394
        Female Urogenital Diseases and Pregnancy Complications 2183
          Female Urogenital Diseases 1803
            female reproductive system disease 1800
              prolapse of female genital organ 174
                enterocele 174
                  Diaphragmatic Hernia 111
                    Complete Agenesis of Diaphragm 0
                    Diaphragmatic Hernia, Traumatic 0
                    Fryns Syndrome 0
                    congenital diaphragmatic hernia + 60
                    hiatus hernia + 20
                    spondylocostal dysostosis 1 4
paths to the root