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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
 xref: EFO:0008561;   MESH:D006548


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 chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660 		JBrowse link
G Agtr1b angiotensin II receptor, type 1b ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292651 NCBI chr 2:104,774,005...104,849,262
Ensembl chr 2:104,773,930...104,849,310 		JBrowse link
G Aqp5 aquaporin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17245593 PMID:17270560 NCBI chr 7:132,601,528...132,605,060
Ensembl chr 7:132,601,059...132,605,062 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16473863 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9473106 PMID:10693666 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10693666 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10359170 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Fgf18 fibroblast growth factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17303798 NCBI chr10:18,210,240...18,241,929
Ensembl chr10:18,210,512...18,240,933 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10646786 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Foxa2 forkhead box A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16863852 NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:155,923,307...155,928,757 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18280291 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292552 PMID:16720372 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr 4:82,632,958...82,636,851
Ensembl chr 4:82,632,306...82,639,038 		JBrowse link
G Hoxb3 homeo box B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18351244 NCBI chr10:81,786,001...81,810,655
Ensembl chr10:81,795,882...81,809,628 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 PMID:17245593 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10370016 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500730 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 2:197,392,746...197,406,606
Ensembl chr 2:197,392,698...197,407,519 		JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr 3:176,239,285...176,332,408
Ensembl chr 3:176,242,589...176,332,408 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15088113 NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Myod1 myogenic differentiation 1 IEP mRNA:decreased expression:diaphragm RGD PMID:21258934 RGD:9686080 NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:106,021,161...106,023,871 		JBrowse link
G Nkx2-1 NK2 homeobox 1 IEP
ISO 		mRNA, protein:increased expression:lung
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:10830305 PMID:16863852 PMID:17245593 RGD:1600158 NCBI chr 6:79,731,677...79,735,952
Ensembl chr 6:79,731,677...79,736,441 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO 		mRNA, protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:7576705 PMID:8863223 PMID:7576705 RGD:5132862 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11584395 NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		JBrowse link
G Pax3 paired box 3 IEP mRNA:decreased expression:heart (rat) RGD PMID:15616818 RGD:1580942 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Rxra retinoid X receptor alpha IEP mRNA:increased expression:lung RGD PMID:17270546 RGD:1643107 NCBI chr 3:31,387,892...31,474,415
Ensembl chr 3:31,388,223...31,474,417 		JBrowse link
G Sftpb surfactant protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10830305 PMID:16863852 NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646 		JBrowse link
G Sftpc surfactant protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10751355 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:52,006,283...52,009,475 		JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr10:20,075,929...20,660,704
Ensembl chr10:20,076,021...20,660,704 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 IEP
ISO 		protein:increased expression:lung
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:10646786 PMID:19635314 RGD:4145129 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Thra thyroid hormone receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr10:84,198,141...84,225,659
Ensembl chr10:84,197,011...84,225,657 		JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:11685700 NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10541330 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18958481 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12759764 NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:206,723,044...206,742,801 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436238 NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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:116,401,247...116,495,898
Ensembl chr  X:116,401,293...116,495,893 		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 IEP protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22113494 RGD:6903875 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:116,913,656...116,918,745 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia 		CTD
ClinVar		 PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 More... NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Eln elastin IEP mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia 		CTD
ClinVar		 PMID:20938900 PMID:25741868 PMID:28492532 PMID:33443296 NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:66,094,700...66,153,977 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:66,062,635...66,066,427
Ensembl chr19:66,062,369...66,066,428 		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 chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO
ISS
IEP 		DNA:deletion, frame shift:cds, splice junction:
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Agenesis of hemidiaphragm
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm: 		MouseDO
ClinVar
CTD
RGD		 PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 More... RGD:11554181, RGD:11554195, RGD:11554181 NCBI chr 5:102,367,201...102,515,464
Ensembl chr 5:102,367,201...102,515,404 		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 chr 2:139,753,055...139,891,046
Ensembl chr 2:139,753,055...139,891,046 		JBrowse link
G Gata4 GATA binding protein 4 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187 		CTD
MouseDO		 PMID:23426975 NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		JBrowse link
G Gata6 GATA binding protein 6 IEP
ISO 		mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH 		ClinVar
RGD		 PMID:22158542 PMID:24385578 PMID:25741868 PMID:18280291 RGD:9068407 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:56,359,596...56,431,619 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP RGD PMID:24352370 RGD:10402563 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:19844724 RGD:10402761 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 IEP RGD PMID:19844724 RGD:10402761 NCBI chr 9:81,901,605...81,914,187
Ensembl chr 9:81,897,616...81,914,390 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 9:31,326,595...31,892,399
Ensembl chr 9:31,329,497...31,891,304 		JBrowse link
G Kif7 kinesin family member 7 IEP
ISS 		mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187 		MouseDO
RGD		 PMID:25921351 RGD:11553839 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Lcn2 lipocalin 2 IEP
ISO 		mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid 		RGD PMID:27592368 PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:65,265,639...65,346,196
Ensembl chr 7:65,265,639...65,346,196 		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 chr11:96,991,956...97,008,127
Ensembl chr11:96,991,590...97,007,851 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:14559814 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 More... NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr12:50,841,632...50,880,795
Ensembl chr12:50,841,632...50,880,795 		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 chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:106,021,161...106,023,871 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Agenesis of hemidiaphragm 		ClinVar
RGD		 PMID:25741868 PMID:30532227 PMID:30532227 RGD:200226345 NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:56,407,308...56,470,007
Ensembl chr18:56,411,200...56,448,612 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		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 chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr20:7,556,496...7,560,747
Ensembl chr20:7,556,113...7,561,764 		JBrowse link
G Pls3 plastin 3 ISS
ISO 		OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Congenital diaphragmatic hernia 		MouseDO
ClinVar		 PMID:25741868 PMID:37751738 NCBI chr  X:116,401,247...116,495,898
Ensembl chr  X:116,401,293...116,495,893 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 8:45,308,739...45,322,522
Ensembl chr 8:45,308,739...45,322,531 		JBrowse link
G Sftpa1 surfactant protein A1 treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769 		JBrowse link
G Sftpb surfactant protein B treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146 		JBrowse link
G Slit3 slit guidance ligand 3 ISS
IEP 		OMIM:142340 | OMIM:222400 | OMIM:610187
mRNA:increased expression:lung 		MouseDO
RGD		 PMID:19944214 RGD:243048459 NCBI chr10:20,075,929...20,660,704
Ensembl chr10:20,076,021...20,660,704 		JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Sox7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:42,356,405...42,363,166
Ensembl chr15:42,356,289...42,363,164 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:10541330 RGD:12904053 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:162,545,660...162,565,456
Ensembl chr 1:162,545,680...162,564,660 		JBrowse link
G Wt1 WT1 transcription factor ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187 		CTD
MouseDO		 PMID:21072664 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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, multitype 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 3
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:14517948 PMID:16103912 PMID:20807224 PMID:24702427 PMID:24769157 More... NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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 chr 8:80,758,641...80,837,891
Ensembl chr 8:80,758,142...80,837,883 		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 9:34,592,723...34,674,425
Ensembl chr 9:34,577,616...34,674,428 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS 		ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: FACIOOCULOACOUSTICORENAL SYNDROME | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		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 6:127,647,389...127,663,276 JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:157,289,497...157,290,920 JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr19:68,789,065...68,838,692
Ensembl chr19:68,789,065...68,838,692 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More... NCBI chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		JBrowse link
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 1:144,269,561...144,277,707
Ensembl chr 1:144,269,562...144,277,840 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		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 3:36,332,190...36,370,324
Ensembl chr 3:36,326,202...36,370,933 		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 1:144,269,561...144,277,707
Ensembl chr 1:144,269,562...144,277,840 		JBrowse link
G Zfp592 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 1:144,355,227...144,411,686
Ensembl chr 1:144,361,654...144,411,684 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yrdc yrdC N(6)-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 5:142,394,833...142,399,798
Ensembl chr 5:142,394,938...142,399,795 		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:157,289,497...157,290,920 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 chr15:26,610,694...26,618,113
Ensembl chr15:26,610,698...26,618,113 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A 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 chr 3:174,638,962...174,645,198
Ensembl chr 3:174,638,962...174,643,347 		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 | ClinVar Annotator: match by term: TPRKB-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		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 chr20:9,588,532...9,604,718
Ensembl chr20:9,588,532...9,605,007 		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 chr 7:55,239,610...55,285,050
Ensembl chr 7:55,239,613...55,285,234 		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 chr19:68,789,065...68,838,692
Ensembl chr19:68,789,065...68,838,692 		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 6:127,647,389...127,663,276 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 1:92,689,577...92,698,125
Ensembl chr 1:92,689,577...92,697,406 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:143,165,914...143,168,520
Ensembl chr 1:143,165,849...143,168,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Anatomical Pathological Conditions 1890
        enterocele 164
          Diaphragmatic Hernia 108
            Complete Agenesis of Diaphragm 0
            Diaphragmatic Hernia, Traumatic 0
            Fryns Syndrome 0
            congenital diaphragmatic hernia + 65
            hiatus hernia + 12
            spondylocostal dysostosis 1 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Urogenital Diseases 4547
        Female Urogenital Diseases and Pregnancy Complications 2323
          Female Urogenital Diseases 1916
            female reproductive system disease 1913
              prolapse of female genital organ 165
                enterocele 164
                  Diaphragmatic Hernia 108
                    Complete Agenesis of Diaphragm 0
                    Diaphragmatic Hernia, Traumatic 0
                    Fryns Syndrome 0
                    congenital diaphragmatic hernia + 65
                    hiatus hernia + 12
                    spondylocostal dysostosis 1 2
paths to the root