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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.


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congenital diaphragmatic hernia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:88,703,551...88,708,451
Ensembl chr  X:88,705,765...88,706,853
JBrowse link
G ATP7A ATPase copper transporting alpha ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CBL Cbl proto-oncogene ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G CDK8 cyclin dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr25:13,043,949...13,179,752
Ensembl chr25:13,045,343...13,179,656
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 chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G ELN elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD
ClinVar
PMID:20938900 PMID:25741868 NCBI chr 3:91,499,088...91,508,982 JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693
JBrowse link
G FOXF1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO DNA:deletion, frame shift:cds, splice junction:
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:diaphragm:
RGD
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26382659 RGD:11554181 RGD:11554195 NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23426975 NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989
JBrowse link
G GATA6 GATA binding protein 6 ISO 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 7:65,932,114...65,962,574 JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IGFBP5 insulin like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr37:23,575,265...23,596,970
Ensembl chr37:23,579,841...23,596,870
JBrowse link
G INSR insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046
JBrowse link
G KCNQ5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr12:34,872,514...35,364,794
Ensembl chr12:34,872,581...35,362,349
JBrowse link
G KIF7 kinesin family member 7 ISO mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; RGD PMID:25921351 RGD:11553839 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231
JBrowse link
G LCN2 lipocalin 2 ISO protein:decreased expression:amniotic fluid
mRNA:decreased expression:lung
RGD PMID:27592368 RGD:126790533 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: 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 chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G 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 chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 5:9,546,830...9,561,342
Ensembl chr 5:9,547,047...9,561,702
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G WNT11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr21:22,442,496...22,463,040
Ensembl chr21:22,446,051...22,463,173
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21072664 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr10:23,882,379...23,944,850
Ensembl chr10:23,884,981...23,920,131
JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578
JBrowse link
G LRP2 LDL receptor related protein 2 ISO OMIM NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13742
    physical disorder 2969
      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 13742
    disease of anatomical entity 13397
      nervous system disease 11148
        peripheral nervous system disease 2422
          neuropathy 2241
            neuromuscular disease 1774
              muscular disease 1192
                diaphragm disease 105
                  Diaphragmatic Hernia 104
                    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