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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


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 chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G AQP5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr27:4,735,313...4,742,975
Ensembl chr27:4,735,538...4,737,650 		JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung		 CTD
RGD		 PMID:10646786 PMID:19635314 RGD:4145129 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463 		JBrowse link
G EDNRB endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G FGF18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr 4:40,714,891...40,748,892
Ensembl chr 4:40,715,060...40,748,518 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G FOXA2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr24:1,010,370...1,013,791
Ensembl chr24:1,010,651...1,013,072 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G HOXA5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr14:40,315,409...40,319,001
Ensembl chr14:40,315,639...40,317,768 		JBrowse link
G HOXB3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 9:24,810,299...24,837,434
Ensembl chr 9:24,809,739...24,836,058 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 6:41,405,453...41,415,727
Ensembl chr 6:41,407,070...41,408,823 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr24:36,016,800...36,118,873
Ensembl chr24:36,025,472...36,117,934 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712 		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
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 chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524 		JBrowse link
G PAX3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G RXRA retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 9:50,525,195...50,575,720
Ensembl chr 9:50,484,567...50,573,119 		JBrowse link
G SFTPB surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
G SFTPC surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SLIT3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr30:37,331,834...37,359,449
Ensembl chr30:37,331,832...37,353,529 		JBrowse link
G THRA thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445 		JBrowse link
G THRB thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr23:19,278,650...19,648,547
Ensembl chr23:19,277,493...19,660,283 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr 3:71,396,694...71,430,395
Ensembl chr 3:71,370,822...71,411,350 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		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 chr  X:88,308,817...88,399,682
Ensembl chr  X:88,308,888...88,398,810 		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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		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 chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985 		JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		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 chr 3:91,499,088...91,508,982 JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693 		JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935 		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 chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063 		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 chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335 		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 chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456 		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 chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		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 chr 7:65,932,114...65,962,574 JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr37:23,575,265...23,596,970
Ensembl chr37:23,579,841...23,596,870 		JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr12:34,872,514...35,364,794
Ensembl chr12:34,872,581...35,362,349 		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 chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G LCN2 lipocalin 2 ISO protein:decreased expression:amniotic fluid
mRNA:decreased expression:lung		 RGD PMID:27592368 RGD:126790533 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G LRP1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		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 chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		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 chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725 		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 chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 4:58,580,231...58,639,750
Ensembl chr 4:58,532,148...58,640,191 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 3:44,135,143...44,148,836
Ensembl chr 3:44,136,463...44,148,524 		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 chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		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 chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933 		JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chr  X:88,308,817...88,399,682
Ensembl chr  X:88,308,888...88,398,810 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702 		JBrowse link
G SFTPB surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955 		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 chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714 		JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOX7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr25:27,216,111...27,222,142
Ensembl chr25:27,215,528...27,220,227 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		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 chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		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 chr30:23,074,432...23,170,374
Ensembl chr30:23,074,432...23,340,030 		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 chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578 		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 chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546 		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 chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414 		JBrowse link
G LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:122,185,300...122,186,498 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 chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173 		JBrowse link
G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446 		JBrowse link
G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		JBrowse link
G ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486 		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 chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		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 chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		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 chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H1orf122 chromosome 15 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 chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386 		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 chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000 		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 chr  X:122,185,300...122,186,498 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 chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173 		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 chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446 		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 chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		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 chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		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 chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197 		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 chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033 		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 chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414 		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 chr 1:98,036,444...98,039,818
Ensembl chr 1:98,036,227...98,039,845 		JBrowse link
G FAM120A family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:98,264,680...98,336,761
Ensembl chr 1:98,265,855...98,353,296 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:72,099,886...72,125,266
Ensembl chr 1:72,099,881...72,125,224 		JBrowse link
G FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:72,136,072...72,168,487
Ensembl chr 1:72,136,106...72,184,795 		JBrowse link
G MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:99,201,206...99,271,351
Ensembl chr 1:99,203,170...99,271,067 		JBrowse link
G MIRLET7D microRNA let-7d ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,902,012...97,902,136
Ensembl chr 1:97,902,012...97,902,136 		JBrowse link
G MIRLET7F microRNA let-7f ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,903,931...97,904,008
Ensembl chr 1:97,903,919...97,904,028 		JBrowse link
G PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:98,188,014...98,253,930
Ensembl chr 1:98,188,826...98,254,411 		JBrowse link
G PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,942,905...98,002,025
Ensembl chr 1:97,944,325...98,002,074 		JBrowse link
G ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 1:97,811,128...97,854,011
Ensembl chr 1:97,811,274...97,853,966 		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 chr 1:113,737,662...113,745,936 JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,757,581...52,759,987
Ensembl chr 3:52,756,836...52,760,004 		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 chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr12:44,144,821...44,168,236 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15727
    Pathological Conditions, Signs and Symptoms 12315
      Anatomical Pathological Conditions 2587
        enterocele 191
          Diaphragmatic Hernia 121
            Complete Agenesis of Diaphragm 0
            Diaphragmatic Hernia, Traumatic 0
            Fryns Syndrome 0
            congenital diaphragmatic hernia + 67
            hiatus hernia + 23
            spondylocostal dysostosis 1 4
Path 2
Term Annotations click to browse term
  disease 15727
    disease of anatomical entity 15373
      Urogenital Diseases 4897
        Female Urogenital Diseases and Pregnancy Complications 2581
          Female Urogenital Diseases 2115
            female reproductive system disease 2112
              prolapse of female genital organ 191
                enterocele 191
                  Diaphragmatic Hernia 121
                    Complete Agenesis of Diaphragm 0
                    Diaphragmatic Hernia, Traumatic 0
                    Fryns Syndrome 0
                    congenital diaphragmatic hernia + 67
                    hiatus hernia + 23
                    spondylocostal dysostosis 1 4
paths to the root