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 IEP protein:increased activity:lung (rat) RGD PMID:9498404 RGD:12859277 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22113494 RGD:6903875 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA, protein:decreased expression:diaphragm (rat) RGD PMID:25319798 RGD:11341670 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA:decreased expression:heart: RGD PMID:18280291 RGD:9068407 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cbl Cbl proto-oncogene IEP mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: RGD PMID:23143077 RGD:11038813 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30418988 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20939759 PMID:21258935 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		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 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Eln elastin IEP mRNA,protein:increased expression:lung: RGD PMID:12194112 RGD:9585688 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA:decreased expression:lung RGD PMID:24488106 RGD:9588310 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27880037 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar PMID:23806086 PMID:24088041 PMID:25736269 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		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 chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27663689 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		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 chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		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 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		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 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785 		JBrowse link
G Gata4 GATA binding protein 4 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:142340 | OMIM:222400 | OMIM:610187
ClinVar Annotator: match by term: Agenesis of hemidiaphragm		 CTD
MouseDO
ClinVar		 PMID:18076106 PMID:20874241 PMID:23426975 PMID:24033266 PMID:25741868 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA, protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:heart (rat) RGD PMID:11409163 RGD:12904929 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment IEP RGD PMID:24352370 RGD:10402563 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 PMID:21433279 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:19844724 RGD:10402761 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Igfbp5 insulin-like growth factor binding protein 5 IEP RGD PMID:19844724 RGD:10402761 NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156 		JBrowse link
G Insr insulin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21433279 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28189443 NCBI chr 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704 		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 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		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 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:25741868 PMID:31834374 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Agenesis of hemidiaphragm ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258934 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		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 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:decreased expression:pulmonary artery (rat) RGD PMID:29216632 RGD:13504720 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		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 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		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 chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174 		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:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Congenital diaphragmatic hernia ClinVar NCBI chr 8:37,119,953...37,133,887
Ensembl chr 8:37,119,988...37,132,519 		JBrowse link
G Sftpa1 surfactant protein A1 treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B treatment IEP RGD PMID:11051153 RGD:151667435 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP protein:increased expression:lung RGD PMID:24888825 RGD:401901089 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Slit2 slit guidance ligand 2 IEP mRNA:increased expression:lung RGD PMID:19944214 RGD:243048459 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948 		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 chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634 		JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP mRNA:decreased expression:lung RGD PMID:26534761 RGD:11035301 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sox7 SRY-box transcription factor 7 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr15:38,180,503...38,187,264
Ensembl chr15:38,180,503...38,187,264 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25812446 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:10541330 RGD:12904053 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:lung: RGD PMID:15879288 RGD:7421593 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wnt11 Wnt family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25783350 NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294 		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 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:142340 | OMIM:222400 | OMIM:610187 MouseDO NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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:111,589,193...111,683,908
Ensembl chr  X:111,589,254...111,683,891 		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:17568391 PMID:20807224 PMID:21919901 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		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 chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107 		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 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS		 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:222448
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    physical disorder 5180
      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 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                diaphragm disease 124
                  Diaphragmatic Hernia 123
                    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