CDH
MCID: DPH024
MIFTS: 65

Diaphragmatic Hernia, Congenital (CDH)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Diaphragmatic Hernia, Congenital

MalaCards integrated aliases for Diaphragmatic Hernia, Congenital:

Name: Diaphragmatic Hernia, Congenital 57 76
Congenital Diaphragmatic Hernia 12 76 24 53 25 59 37 29 6 15
Hernia, Congenital Diaphragmatic 1 57 13
Congenital Diaphragmatic Defect 53 25
Hernia, Diaphragmatic 44 40
Diaphragmatic Hernia 12 15
Cdh 53 59
Hernia, Congenital Diaphragmatic; Hcd; Cdh 57
Diaphragm, Unilateral Agenesis of 57
Hernia, Congenital Diaphragmatic 57
Diaphragmatic Defect, Congenital 57
Unilateral Agenesis of Diaphragm 53
Hernia Diaphragmatic Congenital 55
Hemidiaphragm, Agenesis of 57
Agenesis of Hemidiaphragm 53
Hernia Diaphragmatic 55
Dih 57
Hcd 57

Characteristics:

Orphanet epidemiological data:

59
congenital diaphragmatic hernia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-9/100000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-5/10000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
multifactorial
? some autosomal recessive cases


HPO:

32
diaphragmatic hernia, congenital:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 142340
Disease Ontology 12 DOID:3827
MeSH 44 D006548
NCIt 50 C34687
SNOMED-CT 68 39839004
Orphanet 59 ORPHA2140
MESH via Orphanet 45 C538080
UMLS via Orphanet 74 C0235833
ICD10 via Orphanet 34 Q79.0
MedGen 42 C0235833
KEGG 37 H01241
SNOMED-CT via HPO 69 17190001
UMLS 73 C0019284

Summaries for Diaphragmatic Hernia, Congenital

NIH Rare Diseases : 53 Congenital diaphragmatic hernia (CDH) is a condition present before birth characterized by abnormal development of the diaphragm. The diaphragm normally separates the organs in the abdomen from those in the chest. The severity of CDH may range from a thinned area in part of the diaphragm, to its complete absence. CDH may allow the stomach and intestines to move through an opening (hernia) into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), which may cause life-threatening complications. CDH may be associated with several syndromes (some caused by genetic mutations or a chromosome abnormality), it may be associated with other birth defects, or it may occur with no other abnormalities. It is rarely inherited. Treatment options depend on the type and severity of the defect and typically include surgery.Prenatal diagnosis and medical advances have increased the survival rate, but various long-term complications affecting health and development may occur.

MalaCards based summary : Diaphragmatic Hernia, Congenital, also known as congenital diaphragmatic hernia, is related to microphthalmia, syndromic 9 and donnai-barrow syndrome. An important gene associated with Diaphragmatic Hernia, Congenital is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Nitric Oxide and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and liver, and related phenotypes are congenital diaphragmatic hernia and cardiovascular system

Disease Ontology : 12 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.

Genetics Home Reference : 25 Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.

OMIM : 57 Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate (Langham et al., 1996; Harrison et al., 1994; Nobuhara et al., 1996). Most cases of congenital diaphragmatic hernia are sporadic. (142340)

Wikipedia : 76 Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH... more...

GeneReviews: NBK1359

Related Diseases for Diaphragmatic Hernia, Congenital

Diseases in the Hernia, Anterior Diaphragmatic family:

Diaphragmatic Hernia, Congenital Diaphragmatic Hernia 2
Diaphragmatic Hernia 3

Diseases related to Diaphragmatic Hernia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 302)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 9 33.6 STRA6 FREM2 FGF10
2 donnai-barrow syndrome 32.2 ZFPM2 NR2F2 GATA4
3 diaphragmatic eventration 30.7 ZFPM2 STRA6 PAX3
4 renal hypodysplasia/aplasia 3 30.2 FREM2 FREM1 FRAS1
5 renal hypodysplasia/aplasia 1 30.2 FREM2 FREM1 FRAS1
6 omphalocele, diaphragmatic hernia, and radial ray defects 12.5
7 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.3
8 epidermolysis bullosa with diaphragmatic hernia 12.2
9 diaphragmatic hernia exomphalos corpus callosum agenesis 12.2
10 diaphragmatic hernia upper limb defects 12.2
11 hydrocephaly corpus callosum agenesis diaphragmatic hernia 12.2
12 lethal hydranencephaly-diaphragmatic hernia syndrome 12.2
13 microphthalmia, syndromic 12 12.0
14 craniofacial-deafness-hand syndrome 11.9
15 pagod syndrome 11.9
16 tonne-kalscheuer syndrome 11.9
17 developmental dysplasia of the hip 1 11.8
18 saal bulas syndrome 11.6
19 heavy chain disease 11.6
20 chromosome 15q24 deletion syndrome 11.6
21 drug reaction with eosinophilia and systemic symptoms 11.5
22 diaphragmatic hernia 2 11.4
23 froster-huch syndrome 11.4
24 agammaglobulinemia 11.4
25 pulmonary hypertension, neonatal 11.2
26 chromosome 8p23.1 deletion 11.2
27 schisis association 11.2
28 diaphragmatic hernia 3 11.2
29 multiple pterygium syndrome, lethal type 11.2
30 gillessen-kaesbach-nishimura syndrome 11.2
31 linear skin defects with multiple congenital anomalies 1 11.2
32 lowry-maclean syndrome 11.2
33 williams-beuren region duplication syndrome 11.2
34 iniencephaly 11.2
35 split hand urinary anomalies spina bifida 11.2
36 gamma heavy chain disease 11.0
37 alpha-heavy chain disease 11.0
38 gastroesophageal reflux 10.4
39 omphalocele 10.4
40 gastroschisis 10.3
41 tracheoesophageal fistula 10.3
42 pulmonary sequestration 10.3
43 lung disease 10.3
44 complete atrioventricular canal-left heart obstruction syndrome 10.3 NR2F2 GATA4
45 peritoneal serous papillary adenocarcinoma 10.3 WT1 SFTPC
46 complete atrioventricular canal-tetralogy of fallot syndrome 10.3 NR2F2 GATA4
47 complete atrioventricular canal-ventricle hypoplasia syndrome 10.2 NR2F2 GATA6 GATA4
48 peritoneal serous adenocarcinoma 10.2 WT1 SFTPC
49 46,xy partial gonadal dysgenesis 10.2 ZFPM2 WT1 GATA4
50 partial atrioventricular canal 10.2 NR2F2 GATA6 GATA4

Graphical network of the top 20 diseases related to Diaphragmatic Hernia, Congenital:



Diseases related to Diaphragmatic Hernia, Congenital

Symptoms & Phenotypes for Diaphragmatic Hernia, Congenital

Symptoms via clinical synopsis from OMIM:

57
Thorax:
familial congenital diaphragmatic hernia


Clinical features from OMIM:

142340

Human phenotypes related to Diaphragmatic Hernia, Congenital:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000776

MGI Mouse Phenotypes related to Diaphragmatic Hernia, Congenital:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 FGF10 FRAS1 FREM2 GATA4 GATA6 GLI3
2 growth/size/body region MP:0005378 10.35 FGF10 FRAS1 FREM1 FREM2 GATA4 GATA6
3 mortality/aging MP:0010768 10.34 FGF10 FRAS1 FREM1 FREM2 GATA4 GATA6
4 cellular MP:0005384 10.28 FGF10 FRAS1 GATA4 GATA6 GLI3 NKX2-1
5 embryo MP:0005380 10.21 FGF10 FREM2 GATA4 GATA6 GLI3 NR2F2
6 endocrine/exocrine gland MP:0005379 10.2 FGF10 FREM1 GATA4 GLI3 NKX2-1 NR2F2
7 integument MP:0010771 10.18 FGF10 FRAS1 FREM1 FREM2 GATA4 GLI3
8 muscle MP:0005369 10.18 FGF10 FREM1 FREM2 GATA4 GATA6 NR2F2
9 digestive/alimentary MP:0005381 10.17 FGF10 FRAS1 FREM1 GATA4 GLI3 NKX2-1
10 no phenotypic analysis MP:0003012 10.17 FRAS1 GATA4 GLI3 NKX2-1 NR2F2 PAX3
11 nervous system MP:0003631 10.16 FGF10 FREM1 FREM2 GATA4 GLI3 NKX2-1
12 craniofacial MP:0005382 10.12 FGF10 FRAS1 FREM1 FREM2 GLI3 PAX3
13 limbs/digits/tail MP:0005371 10.11 FGF10 FRAS1 FREM1 FREM2 GATA4 GATA6
14 normal MP:0002873 10.06 FGF10 FREM1 GATA4 GATA6 GLI3 NKX2-1
15 reproductive system MP:0005389 10 FGF10 FREM1 FREM2 GATA4 GATA6 GLI3
16 respiratory system MP:0005388 9.93 FGF10 FRAS1 FREM1 FREM2 GATA4 GATA6
17 renal/urinary system MP:0005367 9.87 FGF10 FRAS1 FREM1 FREM2 GLI3 PAX3
18 pigmentation MP:0001186 9.77 FREM2 GLI3 NR2F2 PAX3 STRA6
19 skeleton MP:0005390 9.61 FGF10 FRAS1 FREM1 FREM2 GATA4 GLI3
20 vision/eye MP:0005391 9.28 FGF10 FRAS1 FREM1 FREM2 GLI3 NR2F2

Drugs & Therapeutics for Diaphragmatic Hernia, Congenital

Drugs for Diaphragmatic Hernia, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
3 Sildenafil Citrate Phase 4 171599-83-0
4 Phosphodiesterase Inhibitors Phase 4,Phase 2
5 Vasodilator Agents Phase 4,Phase 2
6 Citrate Phase 4
7 Phosphodiesterase 5 Inhibitors Phase 4
8
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
9 Antacids Phase 3
10 Anti-Ulcer Agents Phase 3
11 Proton Pump Inhibitors Phase 3
12 Gastrointestinal Agents Phase 3
13
Milrinone Approved Phase 2 78415-72-2 4197
14 Anesthetics Phase 2
15 Phosphodiesterase 3 Inhibitors Phase 2
16 Platelet Aggregation Inhibitors Phase 2
17 Protective Agents Phase 2
18 Cardiotonic Agents Phase 2
19
Atropine Approved, Vet_approved Not Applicable 51-55-8, 5908-99-6 174174
20
Pancuronium Approved Not Applicable 15500-66-0 27350 441289
21
Fentanyl Approved, Illicit, Investigational, Vet_approved Not Applicable 437-38-7 3345
22
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 2713 9552079
23
Ethanol Approved Not Applicable 64-17-5 702
24
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
25
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
26
leucovorin Approved Not Applicable 58-05-9 6006 143
27
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
28
Racepinephrine Approved Not Applicable 329-65-7 838
29
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
30
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
31
Cobalamin Experimental Not Applicable 13408-78-1 6438156
32
Imidacloprid Vet_approved Not Applicable 105827-78-9 86418
33 Anti-Asthmatic Agents Not Applicable
34 Albuterol Not Applicable
35 Respiratory System Agents Not Applicable
36 Autonomic Agents Not Applicable
37 Bronchodilator Agents Not Applicable
38 Peripheral Nervous System Agents Not Applicable
39 Vasoconstrictor Agents ,Not Applicable
40 Liver Extracts Not Applicable
41 Chlorhexidine gluconate Not Applicable
42 Central Nervous System Depressants
43 threonine Not Applicable
44 Immunoglobulins
45 Antibodies
46 Immunologic Factors
47 Micronutrients Not Applicable
48 Vitamins Not Applicable
49 Trace Elements Not Applicable
50 lysine Not Applicable

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Chronic Sildenafil for Severe Diaphragmatic Hernia Terminated NCT00133679 Phase 4 sildenafil;Placebo
2 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3 Omeprazole suppository
3 Type of Material in Repair of Congenital Diaphragmatic Hernia Terminated NCT00257946 Phase 3
4 Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary Hypoplasia Recruiting NCT01240057 Phase 2, Phase 3
5 Fetal Tracheal Occlusion in Severe Diaphragmatic Hernia: a Randomized Trial Unknown status NCT01302977 Phase 2
6 Early FETO for Severe Congenital Diaphragmatic Hernia Unknown status NCT01731509 Phase 2
7 Fetoscopic Tracheal Balloon Occlusion in Left Diaphragmatic Hernia Unknown status NCT00373438 Phase 2
8 Percutaneous Endoscopic Tracheal Plug/Unplug for CDH Unknown status NCT00768703 Phase 1, Phase 2
9 "Nanotechnologies Applied to General Surgery and Emergency Surgery: Buckypaper as a New Fixing Method for Prosthetic Materials for the Treatment of Hernia and Incisional Hernia in Laparotomy and Laparoscopic Unknown status NCT02137018 Phase 1, Phase 2
10 Fetal Tracheal Balloon Study in Diaphragmatic Hernia Terminated NCT00966823 Phase 2
11 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
12 'TOTAL' (Tracheal Occlusion To Accelerate Lung Growth) Trial Recruiting NCT02875860 Phase 2
13 Umbilical Cord Blood Mononuclear Cells for Hypoxic Neurologic Injury in Infants With Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03526588 Phase 1
14 Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia Unknown status NCT01098929
15 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245 Not Applicable
16 Circulatory Changes During Venovenous (VV)- and Venoarterial (VA) Extracorporeal Membrane Oxygenation (ECMO) Unknown status NCT00622492
17 Lifting of Gastric Tube Through Trans-substernal Versus Trans-esophageal Bed Path in MIE Unknown status NCT02309619 Not Applicable
18 Resuscitation of Infants With Congenital Diaphragmatic Hernia With an Intact Umbilical Cord Recruiting NCT03242044 Not Applicable
19 Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science Recruiting NCT00950118
20 Feto-Endoscopic Tracheal Occlusion (FETO) for Left Congenital Diaphragmatic Hernia Recruiting NCT02986087 Not Applicable
21 Airway Inflammation in Congenital Diaphragmatic Hernia Patients Completed NCT02453750 Not Applicable Hypersaline;Bronchodilator Response
22 Proteomic Profiling for Congenital Diaphragmatic Hernia Recruiting NCT03179371
23 Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Severe Left Diaphragmatic Hernia (CDH) Recruiting NCT02710968 Not Applicable
24 Delayed Cord Clamping for Congenital Diaphragmatic Hernia Active, not recruiting NCT03314233 Not Applicable
25 Pilot Trial: FETO for Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03138863 Not Applicable
26 Fetoscopic Tracheal Balloon Occlusion in Unborns With Severe Congenital Diaphragmatic Hernia - EUROTRIAL I Withdrawn NCT00373763 Not Applicable
27 Initiation of Resuscitation While Attached to the Cord With Congenital Diaphragmatic Hernia Recruiting NCT03094039 Not Applicable
28 Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia Recruiting NCT00881660 Not Applicable
29 Fetoscopic Endoluminal Tracheal Occlusion (FETO) Recruiting NCT03674372 Not Applicable
30 Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Recruiting NCT02530073 Not Applicable
31 Work of Breathing Description in Neonates With Congenital Diaphragmatic Hernia in NAVA and in Conventional Ventilation. Recruiting NCT03250793 Not Applicable
32 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
33 Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic Hernia Recruiting NCT02549820 Not Applicable
34 Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Congenital Diaphragm Hernia Completed NCT02596802 Not Applicable
35 Inflammatory Cytokine Quantification in Infants Completed NCT01155830
36 Randomized Controlled Trial of Fetoscopic Endoluminal Tracheal Occlusion With a Balloon Versus Expectant Management During Pregnancy in Fetuses With Left Sided Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia. Recruiting NCT00763737 Not Applicable
37 Early Childhood Follow-up of Congenital Diaphragmatic Hernia Survivors Completed NCT01029665
38 Microbiome and Volatile Organic Compounds in Patients With CDH Not yet recruiting NCT03787160 Not Applicable
39 CDH - Optimisation of Neonatal Ventilation Recruiting NCT02849054 Not Applicable
40 FETO With Long Tail Balloon for a Treatment of Severe CDH Recruiting NCT03431792 Not Applicable
41 Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia Completed NCT02175264
42 3D Animation and Models to Aid Management of Fetal CDH Recruiting NCT03750266
43 Fetal Surgery Interview Study: Parental Perceptions of Fetal Surgery Recruiting NCT03788122 Not Applicable
44 Analysis of in Vitro Biological Reaction of Diaphragmatic Prothesis When Congenital Diaphragmatic Hernia (CDH) Repair Recruiting NCT03316924
45 Genetic Analysis of Congenital Diaphragmatic Disorders Active, not recruiting NCT01243229
46 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
47 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638 Not Applicable
48 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
49 Anesthetic Management in Fetoscopic Surgery and Incidence of Complications Completed NCT02434926
50 VATS Evacuation Compared to Reinsertion of Thoracostomy Tube in Persistent Traumatic Haemothorax Recruiting NCT03501524 Not Applicable

Search NIH Clinical Center for Diaphragmatic Hernia, Congenital

Cochrane evidence based reviews: hernia, diaphragmatic

Genetic Tests for Diaphragmatic Hernia, Congenital

Genetic tests related to Diaphragmatic Hernia, Congenital:

# Genetic test Affiliating Genes
1 Congenital Diaphragmatic Hernia 29

Anatomical Context for Diaphragmatic Hernia, Congenital

MalaCards organs/tissues related to Diaphragmatic Hernia, Congenital:

41
Lung, Heart, Liver, Fetal Lung, Kidney, Brain, Spleen

Publications for Diaphragmatic Hernia, Congenital

Articles related to Diaphragmatic Hernia, Congenital:

(show top 50) (show all 1435)
# Title Authors Year
1
Inter- and Intra-rater Reliability of A Grading System for Congenital Diaphragmatic Hernia Defect Size. ( 30502292 )
2019
2
Pulmonary vascular development in congenital diaphragmatic hernia. ( 29367409 )
2018
3
Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach. ( 29448010 )
2018
4
The experience of breastfeeding infants affected by congenital diaphragmatic hernia or esophageal atresia. ( 29970173 )
2018
5
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? ( 29358614 )
2018
6
Diaphragmatic function in infants and children with congenital diaphragmatic hernia: a cross-sectional study. ( 29165681 )
2018
7
Early onset necrotising enterocolitis in association with congenital diaphragmatic hernia in a term baby. ( 29954766 )
2018
8
A systematic review with meta-analysis of the prevalence of gastroesophageal reflux in congenital diaphragmatic hernia pediatric survivors. ( 29444224 )
2018
9
Factors related to long-term surgical morbidity in congenital diaphragmatic hernia survivors. ( 28602525 )
2018
10
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. ( 29549119 )
2018
11
Hypoplastic Left Heart Syndrome With a Hypoplastic Lung in Congenital Diaphragmatic Hernia: What Should Be Done First? ( 29702180 )
2018
12
Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland. ( 29215158 )
2018
13
Congenital diaphragmatic hernia in a case of Cat eye syndrome. ( 30214764 )
2018
14
Fragile X Syndrome with Congenital Diaphragmatic Hernia. ( 29161443 )
2018
15
Follow-up of Congenital Diaphragmatic Hernia: Need for Routinary Assessment of Acid Gastroesophageal Reflux with pH-metry. ( 29020688 )
2018
16
The Prevalence and Impact of Congenital Diaphragmatic Hernia among Patients Undergoing Surgery for Congenital Heart Disease. ( 30267752 )
2018
17
Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients. ( 29855254 )
2018
18
Circulating microRNAs are associated with Pulmonary Hypertension and Development of Chronic Lung Disease in Congenital Diaphragmatic Hernia. ( 30013141 )
2018
19
Congenital Diaphragmatic Hernia Presenting with Tension Pneumothorax in a 3-Year-Old Boy. ( 30140602 )
2018
20
Antenatal sildenafil administration to prevent pulmonary hypertension in congenital diaphragmatic hernia (SToP-PH): study protocol for a phase I/IIb placenta transfer and safety study. ( 30261903 )
2018
21
Use of prostaglandin E1 to treat pulmonary hypertension in congenital diaphragmatic hernia. ( 30442461 )
2018
22
Treprostinil Improves Persistent Pulmonary Hypertension Associated with Congenital Diaphragmatic Hernia. ( 29784517 )
2018
23
Lower Distending Pressure Improves Respiratory Mechanics in Congenital Diaphragmatic Hernia Complicated by Persistent Pulmonary Hypertension. ( 29793868 )
2018
24
Pulmonary hypertension in congenital diaphragmatic hernia patients: Prognostic markers and long-term outcomes. ( 29502796 )
2018
25
The Left Ventricle in Congenital Diaphragmatic Hernia: Implications for the Management of Pulmonary Hypertension. ( 29628412 )
2018
26
Characteristics of Infants With Congenital Diaphragmatic Hernia Who Need Follow-Up of Pulmonary Hypertension. ( 29419603 )
2018
27
Pulmonary Hypertension in Patients with Congenital Diaphragmatic Hernia: Does Lung Size Matter? ( 29036736 )
2018
28
Prognostic markers in congenital diaphragmatic hernia: Left ventricular diameter and pulmonary hypertension. ( 29178567 )
2018
29
Hepatopulmonary fusion associated with right-sided congenital diaphragmatic hernia: management of this rare anomaly and a review of the literature. ( 30352531 )
2018
30
Expression of dispatched RND transporter family member 1 is decreased in the diaphragmatic and pulmonary mesenchyme of nitrofen-induced congenital diaphragmatic hernia. ( 30382378 )
2018
31
Assessment of the nitrofen model of congenital diaphragmatic hernia and of the dysregulated factors involved in pulmonary hypoplasia. ( 30386897 )
2018
32
Endoplasmic reticulum stress response is activated in pulmonary hypoplasia secondary to congenital diaphragmatic hernia, but is decreased by administration of amniotic fluid stem cells. ( 30386898 )
2018
33
Health-related quality of life, educational and family outcomes in survivors of congenital diaphragmatic hernia. ( 30417228 )
2018
34
Prenatal treatment with rosiglitazone attenuates vascular remodeling and pulmonary monocyte influx in experimental congenital diaphragmatic hernia. ( 30418988 )
2018
35
Congenital diaphragmatic hernia in newborn infants: Variable endotracheal tube and umbilical venous catheter positions. ( 30423453 )
2018
36
Relationship between volume and outcome for congenital diaphragmatic hernia: a systematic review protocol. ( 30424820 )
2018
37
Lowest PaCO2 on the first day of life predicts mortality and morbidity among infants with congenital diaphragmatic hernia. ( 30425337 )
2018
38
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. ( 30430034 )
2018
39
Contralateral Chylothorax after Congenital Diaphragmatic Hernia Repair. ( 30454498 )
2018
40
A new approach to risk stratification using fetal MRI to predict outcomes in congenital diaphragmatic hernia: the preliminary retrospective single institutional study. ( 30460187 )
2018
41
Ephrin-B1, -B2, and -B4 Expression is Decreased in Developing Diaphragms and Lungs of Fetal Rats with Nitrofen-Induced Congenital Diaphragmatic Hernia. ( 30469162 )
2018
42
Tracheal Diameter and Respiratory Outcome in Infants with Congenital Diaphragmatic Hernia Treated by Fetal Endoscopic Tracheal Occlusion. ( 30481746 )
2018
43
Congenital diaphragmatic hernia repair in patients on extracorporeal membrane oxygenation: How early can we repair? ( 30482539 )
2018
44
A Multimodality Navigation System for Endoscopic Fetal Surgery: A Phantom Case Study for Congenital Diaphragmatic Hernia. ( 30484382 )
2018
45
Vascular and ventilatory mechanical responses in three different stages of pulmonary development in the rabbit model of congenital diaphragmatic hernia 1. ( 30484497 )
2018
46
Longitudinal changes in lung size and intrapulmonary artery Doppler during the second half of pregnancy in fetuses with congenital diaphragmatic hernia. ( 30511776 )
2018
47
ANNALS EXPRESS: Hematopoietic alterations in neonates with congenital diaphragmatic hernia receiving extracorporeal membrane oxygenation support. ( 30514095 )
2018
48
Respiratory syncytial virus prophylaxis in infants with congenital diaphragmatic hernia in the CARESS registry (2005-2017). ( 30517603 )
2018
49
Intra-amniotic Sildenafil Treatment Modulates Vascular Smooth Muscle Cell Phenotype in the Nitrofen Model of Congenital Diaphragmatic Hernia. ( 30518769 )
2018
50
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. ( 30532227 )
2018

Variations for Diaphragmatic Hernia, Congenital

ClinVar genetic disease variations for Diaphragmatic Hernia, Congenital:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh37 Chromosome 18, 19761477: 19761477
2 GATA6 NM_005257.5(GATA6): c.1366C> T (p.Arg456Cys) single nucleotide variant Pathogenic rs387906818 GRCh38 Chromosome 18, 22181516: 22181516
3 MET NM_001127500.2(MET): c.3029C> T (p.Thr1010Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs56391007 GRCh37 Chromosome 7, 116411990: 116411990
4 MET NM_001127500.2(MET): c.3029C> T (p.Thr1010Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs56391007 GRCh38 Chromosome 7, 116771936: 116771936
5 DES NM_001927.3(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 GRCh37 Chromosome 2, 220284876: 220284876
6 DES NM_001927.3(DES): c.638C> T (p.Ala213Val) single nucleotide variant Conflicting interpretations of pathogenicity rs41272699 GRCh38 Chromosome 2, 219420154: 219420154
7 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh37 Chromosome 18, 19751817: 19751817
8 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh38 Chromosome 18, 22171856: 22171856
9 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh38 Chromosome 18, 22172216: 22172216
10 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh37 Chromosome 18, 19752177: 19752177
11 FRAS1 NM_025074.6(FRAS1): c.9806G> A (p.Arg3269Gln) single nucleotide variant risk factor rs61729366 GRCh37 Chromosome 4, 79432453: 79432453
12 FRAS1 NM_025074.6(FRAS1): c.9806G> A (p.Arg3269Gln) single nucleotide variant risk factor rs61729366 GRCh38 Chromosome 4, 78511299: 78511299
13 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
14 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
15 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 GRCh37 Chromosome 9, 14842658: 14842658
16 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 GRCh38 Chromosome 9, 14842660: 14842660
17 FBN1 NM_000138.4(FBN1): c.4970_4971insA (p.Cys1658Leufs) insertion Likely pathogenic rs864309713 GRCh37 Chromosome 15, 48756190: 48756191
18 FBN1 NM_000138.4(FBN1): c.4970_4971insA (p.Cys1658Leufs) insertion Likely pathogenic rs864309713 GRCh38 Chromosome 15, 48463993: 48463994
19 FREM2 NM_207361.5(FREM2): c.4031G> A (p.Arg1344His) single nucleotide variant Uncertain significance rs143044921 GRCh38 Chromosome 13, 38691375: 38691375
20 FREM2 NM_207361.5(FREM2): c.4031G> A (p.Arg1344His) single nucleotide variant Uncertain significance rs143044921 GRCh37 Chromosome 13, 39265512: 39265512
21 FRAS1 NM_025074.6(FRAS1): c.2389G> A (p.Glu797Lys) single nucleotide variant risk factor rs372359356 GRCh38 Chromosome 4, 78337784: 78337784
22 FRAS1 NM_025074.6(FRAS1): c.2389G> A (p.Glu797Lys) single nucleotide variant risk factor rs372359356 GRCh37 Chromosome 4, 79258938: 79258938
23 FRAS1 NM_025074.6(FRAS1): c.6323A> T (p.Asp2108Val) single nucleotide variant risk factor rs921444831 GRCh38 Chromosome 4, 78450199: 78450199
24 FRAS1 NM_025074.6(FRAS1): c.6323A> T (p.Asp2108Val) single nucleotide variant risk factor rs921444831 GRCh37 Chromosome 4, 79371353: 79371353
25 GLI3 NM_000168.5(GLI3): c.2726C> G (p.Ala909Gly) single nucleotide variant risk factor rs780263938 GRCh37 Chromosome 7, 42005945: 42005945
26 GLI3 NM_000168.5(GLI3): c.2726C> G (p.Ala909Gly) single nucleotide variant risk factor rs780263938 GRCh38 Chromosome 7, 41966347: 41966347
27 ROBO4 NM_019055.5(ROBO4): c.569G> C (p.Gly190Ala) single nucleotide variant risk factor rs756636036 GRCh37 Chromosome 11, 124766204: 124766204
28 ROBO4 NM_019055.5(ROBO4): c.569G> C (p.Gly190Ala) single nucleotide variant risk factor rs756636036 GRCh38 Chromosome 11, 124896308: 124896308
29 FREM2 NM_207361.5(FREM2): c.4994C> T (p.Ser1665Phe) single nucleotide variant risk factor GRCh38 Chromosome 13, 38692338: 38692338
30 FREM2 NM_207361.5(FREM2): c.4994C> T (p.Ser1665Phe) single nucleotide variant risk factor GRCh37 Chromosome 13, 39266475: 39266475
31 FREM2 NM_207361.5(FREM2): c.5938_5940delCTT (p.Leu1981del) deletion Likely pathogenic rs775394591 GRCh38 Chromosome 13, 38784727: 38784729
32 FREM2 NM_207361.5(FREM2): c.5938_5940delCTT (p.Leu1981del) deletion Likely pathogenic rs775394591 GRCh37 Chromosome 13, 39358864: 39358866
33 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh38 Chromosome 5, 36984990: 36984991
34 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh37 Chromosome 5, 36985092: 36985093

Copy number variations for Diaphragmatic Hernia, Congenital from CNVD:

7 (show top 50) (show all 94)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15857 1 119957963 119994447 Deletion HSD3B2 Congenital diaphragmatic hernia
2 23597 1 171936289 171970634 In DNM3 Congenital diaphragmatic hernia
3 27740 1 212100000 222100000 Deletion DISP1 Congenital diaphragmatic hernia
4 27744 1 212100000 222100000 Deletion HLX Congenital diaphragmatic hernia
5 27754 1 212100000 225100000 Deletion Congenital diaphragmatic hernia
6 28522 1 223073839 225318623 Deletion C1orf65 Congenital diaphragmatic hernia
7 28523 1 223073839 225318623 Deletion CAPN2 Congenital diaphragmatic hernia
8 28524 1 223073839 225318623 Deletion CAPN8 Congenital diaphragmatic hernia
9 28525 1 223073839 225318623 Deletion DEGS1 Congenital diaphragmatic hernia
10 28526 1 223073839 225318623 Deletion DISP1 Congenital diaphragmatic hernia
11 28527 1 223073839 225318623 Deletion DNAH14 Congenital diaphragmatic hernia
12 28528 1 223073839 225318623 Deletion FBXO28 Congenital diaphragmatic hernia
13 28529 1 223073839 225318623 Deletion MIR320B2 Congenital diaphragmatic hernia
14 28530 1 223073839 225318623 Deletion NVL Congenital diaphragmatic hernia
15 28531 1 223073839 225318623 Deletion SUSD4 Congenital diaphragmatic hernia
16 28532 1 223073839 225318623 Deletion TLR5 Congenital diaphragmatic hernia
17 28533 1 223073839 225318623 Deletion TP53BP2 Congenital diaphragmatic hernia
18 28534 1 223073839 225318623 Deletion WDR26 Congenital diaphragmatic hernia
19 35588 1 65137345 65218480 In CACHD1 Congenital diaphragmatic hernia
20 35589 1 65137345 65218480 In RAVER2 Congenital diaphragmatic hernia
21 49978 11 112347267 134927114 Der Congenital diaphragmatic hernia
22 52746 11 19168012 32271202 Der Congenital diaphragmatic hernia
23 59704 11 77270540 77431584 In AQP11 Congenital diaphragmatic hernia
24 59705 11 77270540 77431584 In CLNS1A Congenital diaphragmatic hernia
25 59706 11 77270540 77431584 In RSF1 Congenital diaphragmatic hernia
26 64289 12 12600000 14800000 Deletion RAIG1 Congenital diaphragmatic hernia
27 69076 12 5300000 10000000 Deletion RBP5 Congenital diaphragmatic hernia
28 79371 13 70666491 71594524 In ATXN8OS Congenital diaphragmatic hernia
29 79372 13 70666491 71594524 In KLHL1 Congenital diaphragmatic hernia
30 79373 13 70666491 71594524 In SCA8 Congenital diaphragmatic hernia
31 85160 14 39875206 40301762 Deletion FBXO33 Congenital diaphragmatic hernia
32 93300 15 50791758 50833347 Deletion USP50 Congenital diaphragmatic hernia
33 93301 15 50791758 50833347 Deletion USP8 Congenital diaphragmatic hernia
34 93579 15 55800000 65300000 Deletion Congenital diaphragmatic hernia
35 94339 15 65300000 76100000 Deletion Congenital diaphragmatic hernia
36 94505 15 67540042 68049656 Deletion AAGAB Congenital diaphragmatic hernia
37 94506 15 67540042 68049656 Deletion C15orf61 Congenital diaphragmatic hernia
38 94507 15 67540042 68049656 Deletion IQCH Congenital diaphragmatic hernia
39 94508 15 67540042 68049656 Deletion MAP2K5 Congenital diaphragmatic hernia
40 95359 15 75600108 75648132 In COMMD4 Congenital diaphragmatic hernia
41 95360 15 75600108 75648132 In NEIL1 Congenital diaphragmatic hernia
42 95413 15 76100000 79500000 Deletion CRABP1 Congenital diaphragmatic hernia
43 95695 15 79500000 83000000 Deletion Congenital diaphragmatic hernia
44 95710 15 79500000 83000000 Microdeletions AP3B2 Congenital diaphragmatic hernia
45 95711 15 79500000 83000000 Microdeletions CPEB1 Congenital diaphragmatic hernia
46 95712 15 79500000 83000000 Microdeletions HDGFRP3 Congenital diaphragmatic hernia
47 95713 15 79500000 83000000 Microdeletions HOMER2 Congenital diaphragmatic hernia
48 96233 15 86900000 96300000 Deletion Congenital diaphragmatic hernia
49 96719 15 92100000 96300000 Deletion Congenital diaphragmatic hernia
50 97350 16 1 6300000 Gain Congenital diaphragmatic hernia

Expression for Diaphragmatic Hernia, Congenital

Search GEO for disease gene expression data for Diaphragmatic Hernia, Congenital.

Pathways for Diaphragmatic Hernia, Congenital

Pathways related to Diaphragmatic Hernia, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 GATA4 GATA6 NKX2-1 PAX3
2 11.62 FGF10 GATA4 WT1
3 11.08 GATA6 GLI3 NR2F2 PAX3
4 10.79 FGF10 GATA4 GATA6
5 10.11 GLI3 NKX2-1

GO Terms for Diaphragmatic Hernia, Congenital

Cellular components related to Diaphragmatic Hernia, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.8 FRAS1 FREM1 FREM2

Biological processes related to Diaphragmatic Hernia, Congenital according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.91 GATA6 GLI3 NR2F2 ZFPM2
2 kidney development GO:0001822 9.85 GLI3 STRA6 WT1
3 male gonad development GO:0008584 9.83 GATA4 GATA6 WT1
4 epithelial cell differentiation GO:0030855 9.82 FGF10 GATA6 WT1
5 forebrain development GO:0030900 9.81 GLI3 NKX2-1 NR2F2
6 camera-type eye development GO:0043010 9.8 GLI3 STRA6 WT1
7 lung development GO:0030324 9.8 FGF10 GLI3 NKX2-1 STRA6 ZFPM2
8 cell communication GO:0007154 9.75 FRAS1 FREM1 FREM2
9 limb development GO:0060173 9.72 FGF10 GLI3 NR2F2
10 heart development GO:0007507 9.7 FREM2 GATA4 GATA6 GLI3 STRA6 WT1
11 limb morphogenesis GO:0035108 9.69 FGF10 GLI3
12 adrenal gland development GO:0030325 9.68 STRA6 WT1
13 aortic valve morphogenesis GO:0003180 9.68 ELN GATA4
14 morphogenesis of an epithelium GO:0002009 9.68 FRAS1 FREM2
15 cardiac muscle tissue development GO:0048738 9.67 GATA6 ZFPM2
16 embryonic digestive tract morphogenesis GO:0048557 9.66 FGF10 GLI3
17 epithelial tube branching involved in lung morphogenesis GO:0060441 9.66 FGF10 NKX2-1
18 smooth muscle cell differentiation GO:0051145 9.65 FGF10 GATA6
19 diaphragm development GO:0060539 9.64 STRA6 WT1
20 tissue development GO:0009888 9.63 GATA4 GATA6 WT1
21 cellular response to gonadotropin stimulus GO:0071371 9.62 GATA6 WT1
22 positive regulation of male gonad development GO:2000020 9.62 WT1 ZFPM2
23 forebrain dorsal/ventral pattern formation GO:0021798 9.61 GLI3 NKX2-1
24 embryonic digestive tract development GO:0048566 9.61 FGF10 GLI3 STRA6
25 positive regulation of transcription, DNA-templated GO:0045893 9.61 FGF10 GATA4 GATA6 GLI3 NKX2-1 NR2F2
26 intestinal epithelial cell differentiation GO:0060575 9.6 GATA4 GATA6
27 animal organ formation GO:0048645 9.59 FGF10 GATA6
28 positive regulation of cardioblast differentiation GO:0051891 9.58 GATA4 GATA6
29 Clara cell differentiation GO:0060486 9.57 GATA6 NKX2-1
30 metanephros morphogenesis GO:0003338 9.56 FGF10 FRAS1
31 anatomical structure formation involved in morphogenesis GO:0048646 9.56 GATA4 GATA6 GLI3 NKX2-1
32 lung saccule development GO:0060430 9.54 FGF10 GATA6 NKX2-1
33 negative regulation of female gonad development GO:2000195 9.52 WT1 ZFPM2
34 nose morphogenesis GO:0043585 9.51 GLI3 STRA6
35 type II pneumocyte differentiation GO:0060510 9.5 FGF10 GATA6 NKX2-1
36 mammary gland specification GO:0060594 9.49 FGF10 GLI3
37 animal organ morphogenesis GO:0009887 9.1 ELN FGF10 GATA4 GATA6 NKX2-1 PAX3
38 regulation of transcription, DNA-templated GO:0006355 10.22 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3
39 negative regulation of transcription by RNA polymerase II GO:0000122 10.12 GATA6 GLI3 NKX2-1 NR2F2 WT1 ZFPM2
40 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 FGF10 GATA4 GATA6 GLI3 NKX2-1 PAX3
41 transcription by RNA polymerase II GO:0006366 10.07 GATA4 GATA6 GLI3 PAX3 WT1
42 negative regulation of transcription, DNA-templated GO:0045892 10.01 GATA6 GLI3 NKX2-1 NR2F2 WT1 ZFPM2

Molecular functions related to Diaphragmatic Hernia, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.62 GATA4 GATA6 GLI3 WT1
3 transcription regulatory region DNA binding GO:0044212 9.56 GATA4 GATA6 NKX2-1 WT1
4 DNA-binding transcription factor activity GO:0003700 9.5 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3
5 sequence-specific DNA binding GO:0043565 9.17 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3

Sources for Diaphragmatic Hernia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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