CDH
MCID: DPH024
MIFTS: 64

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 74
Congenital Diaphragmatic Hernia 12 74 25 20 43 58 36 29 6 15 17 32
Diaphragmatic Hernia 12 15 17 32
Hernia, Congenital Diaphragmatic 1 57 13
Congenital Diaphragmatic Defect 20 43
Hernia, Diaphragmatic 44 39
Cdh 20 58
Hernia, Congenital Diaphragmatic; Hcd; Cdh 57
Diaphragm, Unilateral Agenesis of 57
Hernia, Congenital Diaphragmatic 57
Diaphragmatic Defect, Congenital 57
Unilateral Agenesis of Diaphragm 20
Hernia Diaphragmatic Congenital 54
Hemidiaphragm, Agenesis of 57
Agenesis of Hemidiaphragm 20
Hernia Diaphragmatic 54
Dih 57
Hcd 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
Inheritance:
multifactorial
? some autosomal recessive cases


HPO:

31
diaphragmatic hernia, congenital:
Inheritance multifactorial inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:3827
OMIM® 57 142340
KEGG 36 H01241
MeSH 44 D006548
NCIt 50 C34687
SNOMED-CT 67 155748004
MESH via Orphanet 45 C538080
ICD10 via Orphanet 33 Q79.0
UMLS via Orphanet 72 C0235833
Orphanet 58 ORPHA2140
MedGen 41 C0235833
UMLS 71 C0019284

Summaries for Diaphragmatic Hernia, Congenital

MedlinePlus Genetics : 43 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.In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.

MalaCards based summary : Diaphragmatic Hernia, Congenital, also known as congenital diaphragmatic hernia, is related to congenital heart defects, multiple types, 4 and diaphragmatic hernia 3. An important gene associated with Diaphragmatic Hernia, Congenital is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are G-protein signaling_Rap2B regulation pathway and Tgif disruption of Shh signaling. The drugs Sodium citrate and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and liver, and related phenotypes are congenital diaphragmatic hernia and intestinal malrotation

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.

GARD : 20 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.

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) (Updated 05-Mar-2021)

KEGG : 36 Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development of CDH. It has been reported that a patient who has nonsense mutation in FOG2/ ZFPM2, died at birth with a diaphragmatic defect and severe pulmonary hypoplasia.

Wikipedia : 74 Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is... 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 655)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 4 32.5 NR2F2 GATA6
2 diaphragmatic hernia 3 32.4 ZFPM2-AS1 ZFPM2
3 patent ductus arteriosus 1 31.6 ZFPM2 GATA6 FBN1 ELN
4 tetralogy of fallot 31.4 ZFPM2-AS1 ZFPM2 STRA6 NR2F2 NIPBL GATA6
5 atrial heart septal defect 31.4 ZFPM2 NIPBL GATA6 FBN1 ELN
6 double outlet right ventricle 31.4 ZFPM2-AS1 ZFPM2 GATA6
7 hypoplastic left heart syndrome 31.3 ZFPM2 ROBO4 GATA6 ELN
8 anus, imperforate 31.2 GLI3 FREM2 FRAS1
9 patent foramen ovale 31.1 ZFPM2 NKX2-1 GATA6 FBN1
10 umbilical hernia 31.1 GLI3 FREM2 FBN1
11 renal hypodysplasia/aplasia 1 31.0 WT1 FREM2 FRAS1 FGF7
12 cleft palate, isolated 31.0 PGAP3 NIPBL GLI3 FREM2 FRAS1
13 conotruncal heart malformations 31.0 ZFPM2-AS1 ZFPM2 GATA6
14 hemopericardium 30.9 FBN1 ELN
15 cryptorchidism, unilateral or bilateral 30.9 ZFPM2 WT1 NIPBL GLI3
16 vesicoureteral reflux 1 30.9 NIPBL FREM2 FRAS1
17 atrioventricular septal defect 30.7 ZFPM2 NR2F2 GATA6 ELN
18 46,xy sex reversal 30.7 ZFPM2-AS1 ZFPM2 WT1 NR2F2
19 inguinal hernia 30.7 WT1 GATA6 FBN1 ELN
20 pneumothorax 30.7 NKX2-1 FBN1 ELN
21 aneurysm 30.6 ROBO4 FBN1 ELN
22 diaphragmatic eventration 30.5 ZFPM2 STRA6 FBN1
23 lung disease 30.3 NKX2-1 GRP FGF7 ELN
24 microphthalmia, syndromic 12 11.7
25 tonne-kalscheuer syndrome 11.6
26 omphalocele, diaphragmatic hernia, and radial ray defects 11.5
27 developmental dysplasia of the hip 1 11.4
28 diaphragmatic hernia 2 11.4
29 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 11.3
30 46,xx sex reversal 5 11.3
31 froster-huch syndrome 11.3
32 saal bulas syndrome 11.3
33 linear skin defects with multiple congenital anomalies 1 11.2
34 pallister-killian syndrome 11.2
35 multiple pterygium syndrome, escobar variant 11.2
36 chromosome 15q24 deletion syndrome 11.2
37 diaphragmatic hernia upper limb defects 11.2
38 pulmonary hypertension, neonatal 11.2
39 cardiac-urogenital syndrome 11.2
40 chromosome 8p23.1 deletion 11.2
41 schisis association 11.2
42 epidermolysis bullosa with diaphragmatic hernia 11.2
43 lethal hydranencephaly-diaphragmatic hernia syndrome 11.1
44 diaphragmatic hernia-short bowel-asplenia syndrome 11.1
45 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects 11.1
46 multiple pterygium syndrome, lethal type 11.1
47 gillessen-kaesbach-nishimura syndrome 11.1
48 lowry-maclean syndrome 11.1
49 williams-beuren region duplication syndrome 11.1
50 white-sutton syndrome 11.1

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



Diseases related to Diaphragmatic Hernia, Congenital

Symptoms & Phenotypes for Diaphragmatic Hernia, Congenital

Human phenotypes related to Diaphragmatic Hernia, Congenital:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
2 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
3 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
4 prominent sternum 58 31 frequent (33%) Frequent (79-30%) HP:0000884
5 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
6 aplasia/hypoplasia of the diaphragm 58 31 frequent (33%) Frequent (79-30%) HP:0010315
7 hypoxemia 58 31 frequent (33%) Frequent (79-30%) HP:0012418
8 abnormality of cardiovascular system morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Thorax:
familial congenital diaphragmatic hernia

Clinical features from OMIM®:

142340 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Diaphragmatic Hernia, Congenital:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 CDK8 FBN1 FRAS1 FREM2 GATA6 GLI3
2 growth/size/body region MP:0005378 10.35 CDK8 FBN1 FGF7 FRAS1 FREM2 GATA6
3 mortality/aging MP:0010768 10.25 CDK8 FBN1 FRAS1 FREM2 GATA6 GLI3
4 embryo MP:0005380 10.15 CDK8 FBN1 FREM2 GATA6 GLI3 NIPBL
5 nervous system MP:0003631 10.11 CDK8 FBN1 FGF7 FREM2 GLI3 GRP
6 limbs/digits/tail MP:0005371 10.06 CDK8 FBN1 FRAS1 FREM2 GATA6 GLI3
7 craniofacial MP:0005382 10.05 CDK8 FBN1 FRAS1 FREM2 GLI3 NIPBL
8 no phenotypic analysis MP:0003012 9.97 FBN1 FRAS1 GLI3 NKX2-1 NR2F2 ROBO4
9 muscle MP:0005369 9.95 FBN1 FREM2 GATA6 NR2F2 ROBO4 WT1
10 renal/urinary system MP:0005367 9.7 FBN1 FGF7 FRAS1 FREM2 GLI3 PGAP3
11 pigmentation MP:0001186 9.65 FBN1 FREM2 GLI3 NR2F2 STRA6
12 reproductive system MP:0005389 9.65 FBN1 FGF7 FREM2 GATA6 GLI3 NKX2-1
13 respiratory system MP:0005388 9.28 FBN1 FRAS1 FREM2 GATA6 GLI3 GRP

Drugs & Therapeutics for Diaphragmatic Hernia, Congenital

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Nitric Oxide Approved Phase 4 10102-43-9 145068
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
4 Phosphodiesterase Inhibitors Phase 4
5 Vasodilator Agents Phase 4
6 Phosphodiesterase 5 Inhibitors Phase 4
7 Citrate Phase 4
8 Sildenafil Citrate Phase 4 171599-83-0
9
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
10 Gastrointestinal Agents Phase 3
11 Anti-Ulcer Agents Phase 3
12 Antacids Phase 3
13 Proton Pump Inhibitors Phase 3
14
Milrinone Approved Phase 2 78415-72-2 4197
15 Anesthetics Phase 2
16 Protective Agents Phase 2
17 Cardiotonic Agents Phase 2
18 Phosphodiesterase 3 Inhibitors Phase 2
19 Platelet Aggregation Inhibitors Phase 2
20
Racepinephrine Approved 329-65-7 838
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
23
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
24
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
25
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
26
tannic acid Approved 1401-55-4
27
Threonine Approved, Nutraceutical 72-19-5 6288
28
Imidacloprid Vet_approved 105827-78-9 86418
29 Respiratory System Agents
30 Anti-Asthmatic Agents
31 Bronchodilator Agents
32 Albuterol
33 Vasoconstrictor Agents
34 Adrenergic alpha-Agonists
35 Adrenergic beta-Agonists
36 Epinephryl borate
37 Adrenergic Agents
38 Neurotransmitter Agents
39 Mydriatics
40 Sympathomimetics
41 Adrenergic Agonists
42 Immunoglobulins
43 Antibodies
44 Liver Extracts

Interventional clinical trials:

(show top 50) (show all 64)
# 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 Gastroesophageal Reflux in Infants With Esophageal Atresia or Congenital Diaphragmatic Hernia; A Pharmacodynamic and Pharmacokinetic Study. Completed NCT00226044 Phase 3 Omeprazole rectally 1mg/kg
3 Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left Sided and Isolated Congenital Diaphragma Hernia and Severe Pulmonary Hypoplasia. Active, not recruiting NCT01240057 Phase 2, Phase 3
4 Prospective Randomized Trial Comparing Type of Material in Repair of Congenital Diaphragmatic Hernia Terminated NCT00257946 Phase 3
5 Contribution of PRF (Platelet Rich Fibrin) in the Biological Functionalization of Prothetic Patch Closure : in Vitro Study Terminated NCT03861182 Phase 3
6 "Early" Versus "Standard" Fetal Endoscopic Tracheal Occlusion for Severe Congenital Diaphragmatic Hernia - a Randomized Controlled Trial Unknown status NCT01731509 Phase 2
7 Tracheal Occlusion Guided by Percutaneous Fetoscopy in Fetuses With Severe Isolated Congenital Diaphragmatic Hernia Unknown status NCT01302977 Phase 2
8 Randomized Clinical Trial in Order to Assess the Effect of Fetoscopic Tracheal Balloon Occlusion on the Postnatal Disease Course in Neonates With Left Congenital Diaphragmatic Hernia - FDH-ECMO/BALLOON-TRIAL Unknown status NCT00373438 Phase 2
9 "Nanotechnologies Applied to General Surgery and Emergency Surgery: The Buckypaper as a New Fixing Method for Prosthetic Materials in the Treatment of Abdominal Wall Hernias, Diaphragmatic Hernias, Diaphragmatic Rupture, Incisional Hernia and Abdominal Wall Disaster in Laparotomy Procedure and Laparoscopic Procedures". Unknown status NCT02137018 Phase 1, Phase 2
10 TOTAL TRIAL: Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left-Sided and Isolated Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia Completed NCT02875860 Phase 2
11 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
12 Phase 2 Fetal Tracheal Balloon (IDE G080077) Study in Diaphragmatic Hernia Terminated NCT00966823 Phase 2
13 Umbilical Cord Blood Mononuclear Cells for Hypoxic Neurologic Injury in Infants With Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03526588 Phase 1
14 Hypercapnia During Thoracoscopy or Open Surgery for Repair of Oesophageal Atresia With Tracheo-oesophageal Fistula or Congenital Diaphragmatic Hernia in Neonates: Pilot Randomised Controlled Trial Unknown status NCT01467245
15 Feto-Endoscopic Tracheal Occlusion (FETO) for Left Congenital Diaphragmatic Hernia Unknown status NCT02986087
16 Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia Unknown status NCT01098929
17 The Role of 3D Images and Models to Aid Management of Cases of Congenital Diaphragmatic Hernia Diagnosed in the Antenatal Period. Consecutive Patients Studied From Diagnosis to Post Operative Period. Unknown status NCT03750266
18 Proteomic Analysis of Amniotic Fluid in the Case of Diaphragmatic Hernia: Search for Prognostic Expression Profiles Unknown status NCT03179371
19 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Unknown status NCT03788122
20 Randomized Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Versus Expectant Management During Pregnancy in Fetuses With Left Sided and Isolated Congenital Diaphragmatic Hernia and Moderate Pulmonary Hypoplasia. Completed NCT00763737
21 Determining the Effect of Probiotics on Microbiome and Volatile Organic Compounds in Patients After Surgical Repair of Congenital Diaphragmatic Hernia Completed NCT03787160
22 Physiologic Pilot Study: Work of Breathing Description in Neonates With Congenital Diaphragmatic Hernia in Post-surgical Period Alternatively in Conventional Ventilation (Pressure Controlled) and in NAVA (Neurally Adjusted Ventilatory Assist) Ventilation. Completed NCT03250793
23 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
24 Delayed Cord Clamping for Intubation and Gentle Ventilation in Infants With Congenital Diaphragmatic Hernia Completed NCT03314233
25 Investigation of Airway Inflammation in Congenital Diaphragmatic Hernia Patients Completed NCT02453750 Hypersaline;Bronchodilator Response
26 Early Childhood Follow-up of Congenital Diaphragmatic Hernia Survivors Completed NCT01029665
27 Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia Completed NCT02175264
28 Inflammatory Cytokine Quantification in Infants With Documented Sepsis, Congenital Diaphragmatic Hernia and/or ECMO Therapy Completed NCT01155830
29 Observational Longitudinal Study in Children With the Diagnosis of Diaphragmatic Hernia and/or Oesophageal Atresia for Assessing Lung Function Parameters and Quality of Life Completed NCT02466451
30 Evaluation of New Methods for Prediction of Fetal Lung Maturity in Diabetic Mothers Completed NCT03159234
31 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
32 Antibody Secreting Cell (ASC) and Immunoactive Protein Profiles in Neonates on Extracorporeal Membrane Oxygenation (ECMO) Completed NCT00371241
33 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
34 Assessment of the Pulmonary Area in Newborn With Congenital Diaphragmatic Hernia: a Retrospective Analysis of Respiratory Function, Risk of Recurrence and Mortality Recruiting NCT04396028
35 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT02530073
36 Physiological-based Cord Clamping Versus Immediate Cord Clamping for Infants Born With Congenital Diaphragmatic Hernia: a Multicentre, Randomised Controlled Trial Recruiting NCT04373902
37 Resuscitation of Infants With Congenital Diaphragmatic Hernia With an Intact Umbilical Cord Recruiting NCT03242044
38 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT04583644
39 Study of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Fetuses With Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT02710968
40 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT02549820
41 A Prospective Study on the Role of Fetal Endotracheal Occlusion (FETO) in the Resolution of Pulmonary Hypertension Among Fetuses With Severe Congenital Diaphragmatic Hernia Recruiting NCT03980717
42 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Severe Right and Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03674372
43 The Intrauterine Fetoscopic Tracheal Occlusion (FETO) With Long Tail Balloon for a Treatment of Severe Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03431792
44 Fetal Endoscopic Tracheal Occlusion Trial for Congenital Diaphragmatic Hernia (CDH) Recruiting NCT04052828
45 Optimisation of Neonatal Ventilation: Congenital Diaphragmatic Hernia - Determining the Appropriate Level of Volume Guarantee Recruiting NCT02849054
46 ECHO-CDH - Exploratory Observational Prospective Study in Neonatal and Pediatric Congenital Diaphragmatic Hernia Recruiting NCT04114578
47 Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science Recruiting NCT00950118
48 Neurodevelopmental Outcomes and Growth in Infants With Congenital Gastrointestinal Anomalies Requiring Neonatal Surgery Recruiting NCT04575649
49 Compare the Effects of Volume-oriented Versus Flow-oriented Incentive Spirometry on Pulmonary Function and Functional Capacity in Patients of Upper Abdominal Laparoscopic Surgery Recruiting NCT04716166
50 Maternal-fetal Immune Responses to Fetal Surgery Recruiting NCT04484441

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:

40
Lung, Fetal Lung, Liver, Heart, Kidney, Endothelial, Smooth Muscle

Publications for Diaphragmatic Hernia, Congenital

Articles related to Diaphragmatic Hernia, Congenital:

(show top 50) (show all 4694)
# Title Authors PMID Year
1
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. 57 6 61
17568391 2007
2
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. 25 57 61
29618029 2018
3
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 61 6 25
24702427 2015
4
Genetic aspects of human congenital diaphragmatic hernia. 61 57 25
18510546 2008
5
Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. 61 57 25
16094667 2005
6
Fog2 is required for normal diaphragm and lung development in mice and humans. 61 6 25
16103912 2005
7
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. 6 61
21919901 2012
8
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. 61 57
21525063 2011
9
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. 57 61
20799323 2010
10
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. 57 61
18008313 2007
11
Genetic factors in congenital diaphragmatic hernia. 61 57
17436238 2007
12
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. 61 57
16736036 2006
13
Congenital diaphragmatic hernia associated with duplication of 11q23-qter. 61 57
16770801 2006
14
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. 61 57
16333846 2006
15
Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. 61 57
16251273 2005
16
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results. 61 57
16252246 2005
17
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. 57 61
16141010 2005
18
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. 61 57
15750894 2005
19
Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? 61 57
15057983 2004
20
A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. 61 57
12702769 2003
21
Unilateral agenesis of the diaphragm: a separate entity or an extremely large defect? 57 61
10370024 1999
22
Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree. 61 57
9222974 1997
23
Congenital diaphragmatic hernia. Epidemiology and outcome. 57 61
8982563 1996
24
Long-term outlook for survivors of congenital diaphragmatic hernia. 61 57
8982576 1996
25
A prospective study of the outcome for fetuses with diaphragmatic hernia. 61 57
8054005 1994
26
Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome. 61 57
8309897 1993
27
Unusual varieties of diaphragmatic herniae. 61 57
1907381 1991
28
Outcomes of Congenital Diaphragmatic Hernia in One of the Twins. 25 61
30609432 2019
29
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. 61 25
30289601 2018
30
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 61 25
30532227 2018
31
Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium. 61 25
29915407 2018
32
Prenatal Diagnosis of Congenital Diaphragmatic Hernia: Does Laterality Predict Perinatal Outcomes? 61 25
29304545 2018
33
PBX transcription factors drive pulmonary vascular adaptation to birth. 61 25
29251627 2018
34
Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. 25 61
28925604 2017
35
Procedure-Related Complications and Survival Following Fetoscopic Endotracheal Occlusion (FETO) for Severe Congenital Diaphragmatic Hernia: Systematic Review and Meta-Analysis in the FETO Era. 61 25
27522127 2017
36
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. 61 25
28303347 2017
37
ECMO in CDH: Is there a role? 25 61
28641755 2017
38
Congenital diaphragmatic hernia-associated pulmonary hypertension. 61 25
28641752 2017
39
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. 25 61
26681452 2016
40
Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update. 25 61
27077664 2016
41
Clinical characteristics and outcomes of patients with right congenital diaphragmatic hernia: A population-based study. 25 61
25783377 2015
42
ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA. 61 25
26625659 2015
43
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. 61 25
23138528 2013
44
Premature differentiation of vascular smooth muscle cells in human congenital diaphragmatic hernia. 61 25
23018129 2013
45
Sensorineural hearing loss and language development following neonatal extracorporeal membrane oxygenation. 61 25
23249782 2013
46
Prediction of chronic lung disease, survival and need for ECMO therapy in infants with congenital diaphragmatic hernia: additional value of fetal MRI measurements? 25 61
21458944 2012
47
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. 25 61
22071887 2012
48
The correlation between lung volume and liver herniation measurements by fetal MRI in isolated congenital diaphragmatic hernia: a systematic review and meta-analysis of observational studies. 61 25
21915885 2011
49
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
50
Epidemiology and outcome of congenital diaphragmatic hernia: a 9-year experience. 25 61
21281327 2011

Variations for Diaphragmatic Hernia, Congenital

ClinVar genetic disease variations for Diaphragmatic Hernia, Congenital:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA6 NM_005257.5(GATA6):c.712G>T (p.Gly238Ter) SNV Pathogenic 156010 rs587777710 18:19751817-19751817 18:22171856-22171856
2 GATA6 NM_005257.5(GATA6):c.1072del (p.Val358fs) Deletion Pathogenic 156011 rs1555628863 18:19752176-19752176 18:22172215-22172215
3 GATA6 NM_005257.5(GATA6):c.1366C>T (p.Arg456Cys) SNV Pathogenic 30213 rs387906818 18:19761477-19761477 18:22181516-22181516
4 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala) SNV Pathogenic 6131 rs121908604 8:106814837-106814837 8:105802609-105802609
5 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Pathogenic 6128 rs121908601 8:106431420-106431420 8:105419192-105419192
6 PGAP3 NM_033419.5(PGAP3):c.851A>G (p.His284Arg) SNV Pathogenic 599004 rs776720232 17:37829352-37829352 17:39673099-39673099
7 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) SNV Pathogenic 631491 rs1565977796 13:26911760-26911760 13:26337623-26337623
8 ZFPM2-AS1 NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) Duplication Pathogenic 987903 8:106810967-106810968 8:105798739-105798740
9 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) Duplication Pathogenic 987904 8:106813703-106813704 8:105801475-105801476
10 ZFPM2 NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) SNV Pathogenic 6129 rs121908602 8:106573623-106573623 8:105561395-105561395
11 FBN1 NM_000138.4(FBN1):c.4970_4971insA (p.Cys1658fs) Insertion Likely pathogenic 218938 rs864309713 15:48756190-48756191 15:48463993-48463994
12 ROBO4 NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala) SNV risk factor 369979 rs756636036 11:124766204-124766204 11:124896308-124896308
13 FRAS1 NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys) SNV risk factor 369975 rs372359356 4:79258938-79258938 4:78337784-78337784
14 FRAS1 NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val) SNV risk factor 369978 rs921444831 4:79371353-79371353 4:78450199-78450199
15 GLI3 NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly) SNV risk factor 369976 rs780263938 7:42005945-42005945 7:41966347-41966347
16 NIPBL NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) Deletion Likely pathogenic 374171 rs1057518944 5:36985092-36985093 5:36984990-36984991
17 FREM2 NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) SNV risk factor 311971 rs143044921 13:39265512-39265512 13:38691375-38691375
18 FRAS1 NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) SNV risk factor 198348 rs61729366 4:79432453-79432453 4:78511299-78511299
19 FREM2 NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) SNV Likely pathogenic 311971 rs143044921 13:39265512-39265512 13:38691375-38691375
20 FREM2 NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe) SNV risk factor 369977 rs1555261576 13:39266475-39266475 13:38692338-38692338
21 FREM2 NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del) Deletion Likely pathogenic 369974 rs775394591 13:39358864-39358866 13:38784727-38784729
22 ZFPM2-AS1 NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) SNV Conflicting interpretations of pathogenicity 6130 rs121908603 8:106814417-106814417 8:105802189-105802189
23 MET NM_000245.4(MET):c.2975C>T (p.Thr992Ile) SNV Uncertain significance 41624 rs56391007 7:116411990-116411990 7:116771936-116771936
24 DES NM_001927.4(DES):c.638C>T (p.Ala213Val) SNV Uncertain significance 44265 rs41272699 2:220284876-220284876 2:219420154-219420154
25 ZFPM2 NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) SNV Uncertain significance 633465 rs569356297 8:106431461-106431461 8:105419233-105419233
26 ZFPM2-AS1 NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) SNV Uncertain significance 633466 rs536096943 8:106813478-106813478 8:105801250-105801250
27 LZTR1 NM_006767.4(LZTR1):c.955del (p.Gln319fs) Deletion Uncertain significance 816896 rs1386054181 22:21346079-21346079 22:20991790-20991790
28 ZFPM2-AS1 NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn) SNV Uncertain significance 982981 8:106815645-106815645 8:105803417-105803417
29 PAX3 NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) SNV Uncertain significance 218940 rs2234675 2:223085955-223085955 2:222221236-222221236
30 FREM1 NM_144966.5(FREM1):c.1394G>C (p.Gly465Ala) SNV Uncertain significance 218939 rs41298151 9:14842658-14842658 9:14842660-14842660
31 DEPDC5 NM_001242897.2(DEPDC5):c.2551G>A (p.Gly851Ser) SNV Uncertain significance 599003 rs1569084151 22:32239782-32239782 22:31843796-31843796
32 MN1 NM_002430.3(MN1):c.3839del (p.Cys1280fs) Deletion Uncertain significance 816905 rs1601319594 22:28147027-28147027 22:27751039-27751039
33 FGFRL1 NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) SNV Uncertain significance 992572 4:1018266-1018266 4:1024478-1024478
34 FGFRL1 NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) SNV Uncertain significance 992573 4:1018948-1018948 4:1025160-1025160
35 MYO15A NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) SNV Likely benign 195313 rs200532919 17:18023568-18023568 17:18120254-18120254

Copy number variations for Diaphragmatic Hernia, Congenital from CNVD:

7 (show top 50) (show all 94)
# CNVD ID Chromosome 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 CCDC185 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 GPRC5A 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 ATXN8OS 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 HDGFL3 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 10.26 FREM2 FRAS1 FGF7 FBN1 ELN
2 9.58 NKX2-1 GLI3

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 FREM2 FRAS1 FBN1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 ZFPM2 WT1 NR2F2 NKX2-1 NIPBL GLI3
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 ZFPM2 WT1 NR2F2 NKX2-1 NIPBL GLI3
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 ZFPM2 WT1 NR2F2 NKX2-1 GLI3 GATA6
4 in utero embryonic development GO:0001701 9.89 ZFPM2 NR2F2 GLI3 GATA6
5 negative regulation of transcription, DNA-templated GO:0045892 9.87 ZFPM2 WT1 NR2F2 NKX2-1 NIPBL GLI3
6 forebrain development GO:0030900 9.77 NR2F2 NKX2-1 GLI3
7 cardiac muscle tissue development GO:0048738 9.63 ZFPM2 GATA6
8 adrenal gland development GO:0030325 9.63 WT1 STRA6
9 metanephros development GO:0001656 9.63 NIPBL GLI3 FBN1
10 anatomical structure formation involved in morphogenesis GO:0048646 9.62 NKX2-1 GLI3
11 embryonic digestive tract development GO:0048566 9.62 STRA6 GLI3
12 embryonic digestive tract morphogenesis GO:0048557 9.61 NIPBL GLI3
13 positive regulation of male gonad development GO:2000020 9.61 ZFPM2 WT1
14 developmental growth GO:0048589 9.61 STRA6 NIPBL GLI3
15 cellular response to gonadotropin stimulus GO:0071371 9.58 WT1 GATA6
16 diaphragm development GO:0060539 9.58 WT1 STRA6
17 lung saccule development GO:0060430 9.57 NKX2-1 GATA6
18 forebrain dorsal/ventral pattern formation GO:0021798 9.56 NKX2-1 GLI3
19 camera-type eye development GO:0043010 9.56 WT1 STRA6 GLI3 FBN1
20 uterus morphogenesis GO:0061038 9.55 STRA6 NIPBL
21 kidney development GO:0001822 9.55 WT1 STRA6 GLI3 FREM2 FBN1
22 type II pneumocyte differentiation GO:0060510 9.54 NKX2-1 GATA6
23 Clara cell differentiation GO:0060486 9.52 NKX2-1 GATA6
24 negative regulation of female gonad development GO:2000195 9.49 ZFPM2 WT1
25 nose morphogenesis GO:0043585 9.48 STRA6 GLI3
26 lung development GO:0030324 9.35 ZFPM2 STRA6 NKX2-1 GLI3 FGF7
27 heart development GO:0007507 9.17 ZFPM2 WT1 STRA6 NIPBL GLI3 FREM2

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 GO:0003700 9.65 WT1 NR2F2 NKX2-1 GLI3 GATA6
2 sequence-specific DNA binding GO:0043565 9.35 WT1 NR2F2 NKX2-1 GLI3 GATA6
3 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBN1 ELN
4 mediator complex binding GO:0036033 8.62 NIPBL GLI3

Sources for Diaphragmatic Hernia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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