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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 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G AQP5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr12:38,789,505...38,793,305
Ensembl chr12:39,684,008...39,687,127 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864 		JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497 		JBrowse link
G EDNRB endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170
G FGF18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr 5:166,765,061...166,802,277 JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FOXA2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr20:22,519,942...22,524,262 JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G HOXA5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 7:27,786,040...27,789,339
Ensembl chr 7:27,385,175...27,388,990 		JBrowse link
G HOXB3 homeobox B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr17:8,946,441...8,987,876
Ensembl chr17:9,147,784...9,171,021 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644 		JBrowse link
G LOC100983103 surfactant-associated protein 3 ISO mRNA, protein:increased expression:lung RGD PMID:17245593 RGD:1600158 NCBI chr14:17,224,870...17,273,252
Ensembl chr14:35,404,127...35,626,722 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852
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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr15:75,008,879...75,021,981 JBrowse link
G PAX3 paired box 3 ISO mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G RXRA retinoid X receptor alpha ISO mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704 		JBrowse link
G SFTPB surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SFTPC surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		JBrowse link
G SLIT3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 5:164,029,432...164,664,156
Ensembl chr 5:170,793,731...171,425,242 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr15:53,117,891...53,150,790
Ensembl chr15:72,741,482...72,770,876 		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 chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G THRA thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr17:17,196,459...17,226,263 JBrowse link
G THRB thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		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:104,656,110...104,745,702
Ensembl chr  X:115,160,032...115,250,144 		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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		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 chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688
G EP300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		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 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936 		JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr16:67,237,476...67,239,545 JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949 		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 chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476 		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 chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399 		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 chr13:19,900,324...20,103,303
Ensembl chr13:38,490,750...38,687,048 		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 chr 8:7,442,921...7,526,731 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 chr18:15,411,764...15,444,402 JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826 		JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr2B:103,932,983...103,956,475
Ensembl chr2B:222,534,967...222,558,432 		JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889 		JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 6:70,448,161...71,025,173
Ensembl chr 6:73,742,191...74,312,344 		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 chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		JBrowse link
G LCN2 lipocalin 2 ISO mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid		 RGD PMID:27592368 RGD:126790533 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr17:32,661,499...32,723,320 JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 More... NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G LOC103783265 pulmonary surfactant-associated protein A1 treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr10:76,571,312...76,575,820 JBrowse link
G LRP1 LDL receptor related protein 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979 		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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007 		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 chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr22:8,799,832...8,854,695 JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:30532227 NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NR2F2 nuclear receptor subfamily 2 group F member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:75,008,879...75,021,981 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 chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		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 chr17:17,600,824...17,617,757
Ensembl chr17:17,817,718...17,834,630 		JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 6:36,730,669...36,735,954 JBrowse link
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:37751738 NCBI chr  X:104,656,110...104,745,702
Ensembl chr  X:115,160,032...115,250,144 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837 		JBrowse link
G SFTPB surfactant protein B treatment ISO RGD PMID:11051153 RGD:151667435 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656 		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 5:164,029,432...164,664,156
Ensembl chr 5:170,793,731...171,425,242 		JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		JBrowse link
G SOX7 SRY-box transcription factor 7 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 8:8,476,357...8,483,144 JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr11:71,239,781...71,263,915
Ensembl chr11:74,540,169...74,560,024 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187		 CTD
MouseDO		 PMID:21072664 NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		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 chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		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 chr15:36,925,443...37,038,288
Ensembl chr15:55,237,101...55,557,168 		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 chr 6:67,515,861...67,638,039
Ensembl chr 6:70,814,770...70,937,116 		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 chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697 		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 chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201 		JBrowse link
G LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549 		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 chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888 		JBrowse link
G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497 		JBrowse link
G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 NCBI chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833 		JBrowse link
G ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904 		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 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		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 chr15:63,310,497...63,322,064
Ensembl chr15:82,633,080...82,645,833 		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 chr15:63,415,760...63,473,499
Ensembl chr15:82,773,254...82,792,904 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H1orf122 chromosome 1 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 chr 1:37,082,486...37,084,170 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 chr 1:37,077,653...37,082,929 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:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549 		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 chr14:1,321,599...1,329,604
Ensembl chr14:19,373,836...19,381,888 		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 chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497 		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 chr2A:73,791,353...73,801,570
Ensembl chr2A:75,326,512...75,334,271 		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 chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336 		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 chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642 		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 1:204,985,690...205,053,072
Ensembl chr 1:210,017,649...210,084,746 		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 chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201 		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 9:65,071,990...65,151,152 JBrowse link
G FAM120A family with sequence similarity 120 member A ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:64,575,501...64,689,649 JBrowse link
G FAM120AOS family with sequence similarity 120 member A opposite strand ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:64,566,352...64,575,430
Ensembl chr 9:92,633,662...92,640,636 		JBrowse link
G FBP1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,695,082...65,731,628
Ensembl chr 9:93,825,150...93,860,968 		JBrowse link
G FBP2 fructose-bisphosphatase 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,650,460...65,685,794
Ensembl chr 9:93,780,956...93,815,872 		JBrowse link
G MFSD14B major facilitator superfamily domain containing 14B ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,531,739...65,554,432
Ensembl chr 9:93,661,986...93,684,591 		JBrowse link
G PHF2 PHD finger protein 2 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:64,700,151...64,803,737
Ensembl chr 9:92,815,392...92,863,817 		JBrowse link
G PTPDC1 protein tyrosine phosphatase domain containing 1 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,151,252...65,230,335
Ensembl chr 9:93,212,501...93,290,945 		JBrowse link
G ZNF169 zinc finger protein 169 ISO ClinVar Annotator: match by term: Hiatus hernia ClinVar NCBI chr 9:65,368,373...65,408,193
Ensembl chr 9:93,443,042...93,468,404 		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 chr19:36,597,420...36,607,021 JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr15:68,470,528...68,473,209 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 chr19:36,510,855...36,526,623
Ensembl chr19:45,058,562...45,071,940 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:28492532 NCBI chr 6:81,748,370...81,754,129
Ensembl chr 6:85,022,737...85,027,930 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15811
    Pathological Conditions, Signs and Symptoms 12332
      Anatomical Pathological Conditions 2569
        enterocele 186
          Diaphragmatic Hernia 121
            Complete Agenesis of Diaphragm 0
            Diaphragmatic Hernia, Traumatic 0
            Fryns Syndrome 0
            congenital diaphragmatic hernia + 67
            hiatus hernia + 22
            spondylocostal dysostosis 1 4
Path 2
Term Annotations click to browse term
  disease 15811
    disease of anatomical entity 15489
      Urogenital Diseases 4895
        Female Urogenital Diseases and Pregnancy Complications 2560
          Female Urogenital Diseases 2123
            female reproductive system disease 2120
              prolapse of female genital organ 186
                enterocele 186
                  Diaphragmatic Hernia 121
                    Complete Agenesis of Diaphragm 0
                    Diaphragmatic Hernia, Traumatic 0
                    Fryns Syndrome 0
                    congenital diaphragmatic hernia + 67
                    hiatus hernia + 22
                    spondylocostal dysostosis 1 4
paths to the root