Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:congenital diaphragmatic hernia
go back to main search page
Accession:DOID:3827 term browser browse the term
Definition:A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. (DO)
Synonyms:exact_synonym: Bochdalek hernias;   CDH;   DIH;   HCD;   Morgagni hernias;   Morgagni's hernias;   Morgagnis hernias;   agenesis of hemidiaphragm;   congenital diaphragmatic defect;   congenital diaphragmatic defects;   congenital diaphragmatic hernias;   diaphragm unilateral ageneses;   diaphragm unilateral agenesis;   hemidiaphragm agenesis;   unilateral agenesis of diaphragm
 narrow_synonym: DIH1;   complete agenesis of diaphragm;   hemidiaphragm, agenesis of diaphragmatic hernia 1
 primary_id: MESH:D065630
 alt_id: MIM:142340
 xref: EFO:0007216;   GARD:1481;   ICD10CM:Q79.0;   MIM:PS142340;   NCI:C34687;   NCI:C98893;   ORDO:2140
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:18076106 PMID:20874241 PMID:24033266 PMID:25741868 PMID:27374936 More... 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 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
Anterior Diaphragmatic Hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS3 plastin 3 ISO ClinVar Annotator: match by term: Hernia, anterior diaphragmatic OMIM
ClinVar		 PMID:25741868 PMID:37751738 NCBI chr  X:104,656,110...104,745,702
Ensembl chr  X:115,160,032...115,250,144 		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: Diaphragmatic hernia 4, with cardiovascular defects OMIM
ClinVar		 PMID:25741868 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    physical disorder 5149
      congenital diaphragmatic hernia 66
        Anterior Diaphragmatic Hernia 1
        Diaphragmatic Hernia 1 0
        Diaphragmatic Hernia 2 0
        Diaphragmatic Hernia 3 1
        Diaphragmatic Hernia 4 1
        Donnai-Barrow syndrome 2
        Epidermolysis Bullosa with Diaphragmatic Hernia 0
        Kennerknecht Sorgo Oberhoffer Syndrome 0
        Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
        Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 0
        Saal Bulas Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13566
        peripheral nervous system disease 4195
          neuropathy 4004
            neuromuscular disease 3166
              muscular disease 2190
                diaphragm disease 121
                  Diaphragmatic Hernia 120
                    congenital diaphragmatic hernia 66
                      Anterior Diaphragmatic Hernia 1
                      Diaphragmatic Hernia 1 0
                      Diaphragmatic Hernia 2 0
                      Diaphragmatic Hernia 3 1
                      Diaphragmatic Hernia 4 1
                      Donnai-Barrow syndrome 2
                      Epidermolysis Bullosa with Diaphragmatic Hernia 0
                      Kennerknecht Sorgo Oberhoffer Syndrome 0
                      Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
                      Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 0
                      Saal Bulas Syndrome 0
paths to the root