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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 (peptidyl-dipeptidase A) 1 ISO protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO RGD PMID:22113494 RGD:6903875 NCBI chr  X:21,484,624...21,488,833
Ensembl chr  X:21,484,544...21,489,164
JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide ISO mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:106,027,224...106,128,161
Ensembl chr  X:106,027,276...106,124,926
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cbl Casitas B-lineage lymphoma ISO mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 9:44,142,976...44,234,259
Ensembl chr 9:44,142,976...44,234,049
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Cdk8 cyclin-dependent kinase 8 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 NCBI chr 5:146,230,795...146,302,874
Ensembl chr 5:146,231,230...146,302,874
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 chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Eln elastin ISO mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Ep300 E1A binding protein p300 ISO mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
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 5:108,694,229...108,706,950
Ensembl chr 5:108,692,382...108,706,924
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,116,171...121,118,895
Ensembl chr 8:121,116,171...121,118,895
JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr 8:121,084,386...121,088,154
Ensembl chr 8:121,084,386...121,088,144
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 5:96,373,777...96,784,733
Ensembl chr 5:96,373,955...96,784,728
JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO
IEA
IAGP
DNA:deletion, frame shift:cds, splice junction:
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Congenital diaphragmatic hernia
mRNA,protein:decreased expression:diaphragm:
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:23221805 PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26382659, PMID:23221805, PMID:23221805, PMID:26382659 RGD:11554181, RGD:11554181, RGD:11554195 NCBI chr 4:82,897,920...83,052,506
Ensembl chr 4:82,897,920...83,052,339
JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,513,938...53,658,593
Ensembl chr 3:53,513,938...53,657,355
JBrowse link
G Gata4 GATA binding protein 4 ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:23426975 NCBI chr14:63,198,914...63,271,712
Ensembl chr14:63,198,922...63,271,692
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
ClinVar PMID:22158542 PMID:24385578, PMID:18280291 RGD:9068407 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Igf1 insulin-like growth factor 1 ISO mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:24352370 RGD:10402563 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr17:12,682,406...12,769,706
Ensembl chr17:12,682,406...12,769,664
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19844724 RGD:10402761 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 ISO RGD PMID:19844724 RGD:10402761 NCBI chr 1:72,858,065...72,874,865
Ensembl chr 1:72,857,932...72,874,884
JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Kcnq5 potassium voltage-gated channel, subfamily Q, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 1:21,398,399...21,962,650
Ensembl chr 1:21,398,403...21,961,942
JBrowse link
G Kif7 kinesin family member 7 ISO
IEA
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;
OMIM:142340 | OMIM:222400 | OMIM:610187
MouseDO PMID:25921351 RGD:11553839 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Lcn2 lipocalin 2 ISO mRNA:decreased expression:lung
protein:decreased expression:amniotic fluid
RGD PMID:27592368, PMID:27592368 RGD:126790533, RGD:126790533 NCBI chr 2:32,384,637...32,387,739
Ensembl chr 2:32,384,633...32,388,252
JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr10:127,538,157...127,621,148
Ensembl chr10:127,538,161...127,621,148
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:25741868 NCBI chr16:17,508,260...17,526,333
Ensembl chr16:17,508,688...17,526,333
JBrowse link
G Met met proto-oncogene 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 chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: DIH ClinVar PMID:25741868 PMID:31834374 NCBI chr 5:111,417,300...111,457,030
Ensembl chr 5:111,417,362...111,457,033
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:60,684,494...60,749,035
Ensembl chr18:60,684,494...60,748,650
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:70,351,946...70,366,746
Ensembl chr 7:70,351,944...70,366,735
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 chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr17:29,490,785...29,496,111
Ensembl chr17:29,490,753...29,496,112
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 9:108,306,160...108,337,943
Ensembl chr 9:108,306,129...108,337,934
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 9:37,401,902...37,414,023
Ensembl chr 9:37,401,897...37,415,115
JBrowse link
G Slit3 slit guidance ligand 3 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr11:35,121,456...35,708,507
Ensembl chr11:35,121,224...35,708,507
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Sox7 SRY (sex determining region Y)-box 7 IEA OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:63,943,706...63,950,732
Ensembl chr14:63,943,673...63,950,732
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:10541330 RGD:12904053 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Wnt11 wingless-type MMTV integration site family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 7:98,835,084...98,854,747
Ensembl chr 7:98,835,112...98,855,195
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO
IEA
CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
CTD
MouseDO
PMID:21072664 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS
IEA
OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:40,655,042...41,104,592
Ensembl chr15:40,655,035...41,104,592
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 1:24,676,992...24,766,301
Ensembl chr 1:24,678,630...24,766,301
JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO
IEA
ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
OMIM:222448
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
MouseDO
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 PMID:20359920 PMID:23033978 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25741868 PMID:26118977 PMID:26529358 PMID:28492532 PMID:30167849 PMID:32238909 NCBI chr 2:69,424,335...69,586,029
Ensembl chr 2:69,424,340...69,586,065
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14272
    physical disorder 2971
      congenital diaphragmatic hernia 57
        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 14272
    disease of anatomical entity 13872
      nervous system disease 11393
        peripheral nervous system disease 2425
          neuropathy 2248
            neuromuscular disease 1801
              muscular disease 1209
                diaphragm disease 113
                  Diaphragmatic Hernia 112
                    congenital diaphragmatic hernia 57
                      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