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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:congenital diaphragmatic hernia
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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: OMIM:142340
 xref: GARD:1481;   ICD10CM:Q79.0;   NCI:C34687;   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 (peptidyl-dipeptidase A) 1 ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,673,798...31,677,696
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr11:4,054,442...4,161,501
Ensembl chr11:4,054,209...4,181,093
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 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:27651373 PMID:28492532 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G EP300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,381
JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367
JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
DNA:deletion, frame shift:cds, splice junction:
mRNA,protein:decreased expression:diaphragm:
CTD
ClinVar
RGD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26382659 RGD:11554181 RGD:11554195 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,858,159...14,939,941
JBrowse link
G GATA6 GATA binding protein 6 ISO mRNA:decreased expression:heart (rat)
ClinVar Annotator: match by term: DIH
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
RGD
ClinVar
PMID:18280291 PMID:22158542 PMID:24385578 RGD:9068407 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr15:118,861,816...118,877,787
Ensembl chr15:118,857,479...118,878,522
JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 1:52,435,332...52,939,705
Ensembl chr 1:52,435,434...52,939,824
JBrowse link
G KIF7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; RGD PMID:25921351 RGD:11553839 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LCN2 lipocalin 2 ISO protein:decreased expression:amniotic fluid
mRNA:decreased expression:lung
RGD PMID:27592368 RGD:126790533 NCBI chr 1:268,609,975...268,614,651 JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,735...41,425,234
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
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 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:29407415 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,095,224...124,193,011
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,005...32,793,880
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,836...32,003,722
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,008...52,097,744
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,749
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 9:10,413,182...10,435,158
Ensembl chr 9:10,413,187...10,435,100
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
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 1:49,869,184...49,977,984
Ensembl chr 1:49,868,604...49,977,965
JBrowse link
G LRP2 LDL receptor related protein 2 ISO OMIM NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,301...75,716,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13598
    physical disorder 2936
      congenital diaphragmatic hernia 50
        Anterior Diaphragmatic Hernia 0
        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 13598
    disease of anatomical entity 13257
      nervous system disease 11025
        peripheral nervous system disease 2400
          neuropathy 2225
            neuromuscular disease 1761
              muscular disease 1175
                diaphragm disease 107
                  Diaphragmatic Hernia 106
                    congenital diaphragmatic hernia 50
                      Anterior Diaphragmatic Hernia 0
                      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