MCID: DPH024
MIFTS: 63

Diaphragmatic Hernia, Congenital

Categories: Rare diseases, Gastrointestinal diseases, Respiratory diseases, Fetal diseases, Muscle diseases, Genetic 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
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 44
Diaphragmatic Hernia 12
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
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 craniofacial-deafness-hand syndrome and developmental dysplasia of the hip 1. 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 fetal lung, and related phenotypes are congenital diaphragmatic hernia and cardiovascular system

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)

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.

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.

Wikipedia : 76 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 all 48)
# Related Disease Score Top Affiliating Genes
1 craniofacial-deafness-hand syndrome 11.8
2 developmental dysplasia of the hip 1 11.7
3 saal bulas syndrome 11.4
4 hernia, hiatus 11.4
5 chromosome 15q24 deletion syndrome 11.4
6 severe cutaneous adverse reaction 11.3
7 diaphragmatic hernia 2 11.3
8 heavy chain disease 11.2
9 agammaglobulinemia 11.2
10 donnai-barrow syndrome 11.1
11 diaphragmatic hernia 3 11.1
12 pulmonary hypertension, neonatal 11.1
13 chromosome 8p23.1 deletion 11.1
14 schisis association 11.1
15 gamma heavy chain disease 10.9
16 alpha-heavy chain disease 10.9
17 complete atrioventricular canal-tetralogy of fallot syndrome 10.8 GATA4 NR2F2
18 partial atrioventricular canal 10.8 GATA4 GATA6 NR2F2
19 complete atrioventricular canal-left heart obstruction syndrome 10.8 GATA4 NR2F2
20 complete atrioventricular canal-ventricle hypoplasia syndrome 10.8 GATA4 GATA6 NR2F2
21 renal hypodysplasia/aplasia 3 10.7 FRAS1 FREM1 FREM2
22 46,xy partial gonadal dysgenesis 10.7 GATA4 WT1 ZFPM2
23 cryptophthalmos 10.7 FRAS1 FREM1 FREM2
24 heart septal defect 10.6 GATA4 GATA6 ZFPM2
25 fraser syndrome 1 10.6 FRAS1 FREM1 FREM2
26 chromosome 2q35 duplication syndrome 10.6 FRAS1 FREM1 FREM2 GLI3
27 sarcomatoid mesothelioma 10.6 NKX2-1 WT1
28 microphthalmia, syndromic 9 10.6 FGF10 FREM2 STRA6
29 double outlet right ventricle 10.6 GATA4 GATA6 ZFPM2
30 ventricular septal defect 10.6 GATA4 GATA6 NR2F2 ZFPM2
31 pulmonary hypertension 10.5
32 renal hypodysplasia/aplasia 1 10.5 FRAS1 FREM1 FREM2
33 pulmonary valve disease 10.5 GATA4 GATA6
34 esophagitis 10.5
35 tracheoesophageal fistula with or without esophageal atresia 10.4
36 esophageal atresia 10.4
37 atrial septal defect 4 10.2 GATA4 GATA6
38 drug rash with eosinophilia and systemic symptoms 10.0
39 pneumonia 9.9
40 eosinophilic pneumonia 9.9
41 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.9
42 coffin-siris syndrome 1 9.8
43 fryns syndrome 9.8
44 craniofrontonasal syndrome 9.8
45 chromosome 17q12 deletion syndrome 9.8
46 heart disease 9.8
47 congenital bronchobiliary fistula 9.8
48 diaphragm disease 9.4 ALDH1A2 FGF10 FREM1 GATA4 NR2F2 PAX3

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 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 ALDH1A2 FGF10 FRAS1 FREM2 GATA4 GATA6
2 growth/size/body region MP:0005378 10.36 NR2F2 PAX3 STRA6 WT1 ALDH1A2 FGF10
3 mortality/aging MP:0010768 10.34 ALDH1A2 FGF10 FRAS1 FREM1 FREM2 GATA4
4 cellular MP:0005384 10.33 ALDH1A2 FGF10 FRAS1 GATA4 GATA6 GLI3
5 homeostasis/metabolism MP:0005376 10.31 WT1 ZFPM2 ALDH1A2 FGF10 GATA4 GATA6
6 embryo MP:0005380 10.27 ALDH1A2 FGF10 FREM2 GATA4 GATA6 GLI3
7 endocrine/exocrine gland MP:0005379 10.26 ALDH1A2 FGF10 FREM1 GATA4 GLI3 NKX2-1
8 muscle MP:0005369 10.22 ALDH1A2 FGF10 FREM1 FREM2 GATA4 GATA6
9 nervous system MP:0003631 10.2 ROBO4 STRA6 ALDH1A2 FGF10 FREM1 FREM2
10 craniofacial MP:0005382 10.19 ALDH1A2 FGF10 FRAS1 FREM1 FREM2 GLI3
11 digestive/alimentary MP:0005381 10.18 FGF10 FRAS1 FREM1 GATA4 GLI3 NKX2-1
12 integument MP:0010771 10.18 FGF10 FRAS1 FREM1 FREM2 GATA4 GLI3
13 limbs/digits/tail MP:0005371 10.16 ALDH1A2 FGF10 FRAS1 FREM1 FREM2 GATA4
14 no phenotypic analysis MP:0003012 10.13 FRAS1 GATA4 GLI3 NKX2-1 NR2F2 PAX3
15 normal MP:0002873 10.1 GATA6 GLI3 NKX2-1 PAX3 WT1 ZFPM2
16 reproductive system MP:0005389 9.96 FGF10 FREM1 FREM2 GATA4 GATA6 GLI3
17 respiratory system MP:0005388 9.93 NKX2-1 PAX3 WT1 ZFPM2 ALDH1A2 FGF10
18 renal/urinary system MP:0005367 9.92 PAX3 WT1 ALDH1A2 FGF10 FRAS1 FREM1
19 pigmentation MP:0001186 9.77 FREM2 GLI3 NR2F2 PAX3 STRA6
20 skeleton MP:0005390 9.65 ALDH1A2 FGF10 FRAS1 FREM1 FREM2 GATA4
21 vision/eye MP:0005391 9.28 NR2F2 PAX3 STRA6 ALDH1A2 FGF10 FRAS1

Drugs & Therapeutics for Diaphragmatic Hernia, Congenital

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068 160954
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
3 Vasodilator Agents Phase 4,Phase 2
4 Phosphodiesterase Inhibitors Phase 4,Phase 2
5 Sildenafil Citrate Phase 4 171599-83-0
6 Phosphodiesterase 5 Inhibitors Phase 4
7 Citrate Nutraceutical Phase 4
8
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
9 Gastrointestinal Agents Phase 3
10 Antacids Phase 3
11 Proton Pump Inhibitors Phase 3
12 Anti-Ulcer 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
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
19
Racepinephrine Approved Not Applicable 329-65-7 838
20
Ethanol Approved Not Applicable 64-17-5 702
21
Imidacloprid Vet_approved Not Applicable 105827-78-9 86418
22 Respiratory System Agents Not Applicable
23 Central Nervous System Depressants
24 Adrenergic Agents Not Applicable
25 Micronutrients Not Applicable
26 Adrenergic Agonists Not Applicable
27 Adrenergic alpha-Agonists Not Applicable
28 Adrenergic beta-Agonists Not Applicable
29 Albuterol Not Applicable
30 Mydriatics Not Applicable
31 Neurotransmitter Agents Not Applicable
32 Trace Elements Not Applicable
33 Vasoconstrictor Agents ,Not Applicable
34 Anti-Asthmatic Agents Not Applicable
35 Peripheral Nervous System Agents Not Applicable
36 Epinephryl borate Not Applicable
37 Pharmaceutical Solutions Not Applicable
38 Vitamins Not Applicable
39 Antibodies
40 Immunoglobulins
41 Autonomic Agents Not Applicable
42 Bronchodilator Agents Not Applicable
43 Liver Extracts Not Applicable
44 lysine Nutraceutical Not Applicable
45 threonine Nutraceutical Not Applicable

Interventional clinical trials:

(show top 50) (show all 55)
# 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 Tracheal Occlusion To Accelerate Lung Growth (TOTAL) Trial for Severe Pulmonary Hypoplasia Recruiting NCT01240057 Phase 2, Phase 3
4 Type of Material in Repair of Congenital Diaphragmatic Hernia Terminated NCT00257946 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 "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
9 Milrinone in Congenital Diaphragmatic Hernia Recruiting NCT02951130 Phase 2 Milrinone;Placebo (5% Dextrose)
10 'TOTAL' (Tracheal Occlusion To Accelerate Lung Growth) Trial Recruiting NCT02875860 Phase 2
11 Percutaneous Endoscopic Tracheal Plug/Unplug for CDH Active, not recruiting NCT00768703 Phase 1, Phase 2
12 Fetal Tracheal Balloon 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 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 Airway Inflammation in Congenital Diaphragmatic Hernia Patients Completed NCT02453750 Not Applicable Hypersaline;Bronchodilator Response
19 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
20 Inflammatory Cytokine Quantification in Infants Completed NCT01155830
21 Early Childhood Follow-up of Congenital Diaphragmatic Hernia Survivors Completed NCT01029665
22 Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia Completed NCT02175264
23 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
24 Anesthetic Management in Fetoscopic Surgery and Incidence of Complications Completed NCT02434926
25 PREMAPIV : Intravesical Pressure Variation at Different Bladder Instillation Volumes in Newborn Children Completed NCT01296724 Not Applicable
26 Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO Completed NCT00371241
27 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
28 Prediction of Fetal Lung Maturity Completed NCT03159234 Not Applicable
29 Evaluation of the Follow Me Mode of the AutoLap System - A Feasibility Study Completed NCT02326870 Not Applicable
30 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
31 Intra-Abdominal Hypertension in Neonatal Intensive Care Patients Completed NCT00747552
32 Resuscitation of Infants With Congenital Diaphragmatic Hernia With an Intact Umbilical Cord Recruiting NCT03242044 Not Applicable
33 Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science Recruiting NCT00950118
34 Feto-Endoscopic Tracheal Occlusion (FETO) for Left Congenital Diaphragmatic Hernia Recruiting NCT02986087 Not Applicable
35 Proteomic Profiling for Congenital Diaphragmatic Hernia Recruiting NCT03179371
36 Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Severe Left Diaphragmatic Hernia (CDH) Recruiting NCT02710968 Not Applicable
37 Delayed Cord Clamping for Congenital Diaphragmatic Hernia Recruiting NCT03314233 Not Applicable
38 Pilot Trial: FETO for Congenital Diaphragmatic Hernia (CDH) Recruiting NCT03138863 Not Applicable
39 Initiation of Resuscitation While Attached to the Cord With Congenital Diaphragmatic Hernia Recruiting NCT03094039 Not Applicable
40 Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia Recruiting NCT00881660 Not Applicable
41 Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) Recruiting NCT02530073 Not Applicable
42 Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic Hernia Recruiting NCT02549820 Not Applicable
43 Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Congenital Diaphragm Hernia Recruiting NCT02596802 Not Applicable
44 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
45 CDH - Optimisation of Neonatal Ventilation Recruiting NCT02849054 Not Applicable
46 FETO With Long Tail Balloon for a Treatment of Severe CDH Recruiting NCT03431792 Not Applicable
47 Analysis of in Vitro Biological Reaction of Diaphragmatic Prothesis When Congenital Diaphragmatic Hernia (CDH) Repair Recruiting NCT03316924
48 Genetic Analysis of Congenital Diaphragmatic Disorders Recruiting NCT01243229
49 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
50 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638 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, Fetal Lung, Liver, Endothelial, Kidney, Thyroid

Publications for Diaphragmatic Hernia, Congenital

Articles related to Diaphragmatic Hernia, Congenital:

(show top 50) (show all 969)
# Title Authors Year
1
Pulmonary vascular development in congenital diaphragmatic hernia. ( 29367409 )
2018
2
Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach. ( 29448010 )
2018
3
The experience of breastfeeding infants affected by congenital diaphragmatic hernia or esophageal atresia. ( 29970173 )
2018
4
Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? ( 29358614 )
2018
5
Diaphragmatic function in infants and children with congenital diaphragmatic hernia: a cross-sectional study. ( 29165681 )
2018
6
Early onset necrotising enterocolitis in association with congenital diaphragmatic hernia in a term baby. ( 29954766 )
2018
7
A systematic review with meta-analysis of the prevalence of gastroesophageal reflux in congenital diaphragmatic hernia pediatric survivors. ( 29444224 )
2018
8
Factors related to long-term surgical morbidity in congenital diaphragmatic hernia survivors. ( 28602525 )
2018
9
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
10
Hypoplastic Left Heart Syndrome With a Hypoplastic Lung in Congenital Diaphragmatic Hernia: What Should Be Done First? ( 29702180 )
2018
11
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
12
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. ( 28497001 )
2017
13
Down-regulation of N-deacetylase-N-sulfotransferase-1 signaling in the developing diaphragmatic vasculature of nitrofen-induced congenital diaphragmatic hernia. ( 28363469 )
2017
14
Minimally Invasive vs Open Congenital Diaphragmatic Hernia Repair: Is There a Superior Approach? ( 28147253 )
2017
15
Rare Presentation of Congenital Diaphragmatic Hernia in a Sexagenarian. ( 28701846 )
2017
16
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. ( 28174644 )
2017
17
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
18
Fetal left-sided cardiac structural dimensions in left-sided congenital diaphragmatic hernia - association with severity and impact on postnatal outcomes. ( 28370263 )
2017
19
The use of extracorporeal membrane oxygenation in neonates with severe congenital diaphragmatic hernia: a 26-year experience from a tertiary centrea8 . ( 28475684 )
2017
20
Cerebral Perfusion After Repair of Congenital Diaphragmatic Hernia with Common Carotid Artery Occlusion After ECMO Therapy. ( 28652420 )
2017
21
Efficacy of lung volume optimization maneuver monitored by optoelectronic pletismography in the management of congenital diaphragmatic hernia. ( 28794965 )
2017
22
Seasonality, Epidemiology and Outcome of Congenital Diaphragmatic Hernia in South West of Iran. ( 28770125 )
2017
23
Outcome Analysis of Congenital Diaphragmatic Hernia Cohort before and after Implementation of Standardized Protocol in a Tertiary Neonatal Unit. ( 28845456 )
2017
24
Fetoscopic tracheal occlusion for treatment of non-isolated congenital diaphragmatic hernia. ( 28891233 )
2017
25
Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy. ( 28352483 )
2017
26
Observed-to-expected MRI fetal lung volume can predict long-term lung morbidity in infants with congenital diaphragmatic hernia. ( 28277913 )
2017
27
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. ( 28303347 )
2017
28
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. ( 28898547 )
2017
29
Clinically relevant discordances identified after tertiary reassessment of fetuses with isolated congenital diaphragmatic hernia. ( 28453870 )
2017
30
Predicting Full Enteral Feeding in the Postoperative Period in Infants with Congenital Diaphragmatic Hernia. ( 28081579 )
2017
31
Congenital Diaphragmatic hernia - a review. ( 28331629 )
2017
32
A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia. ( 29302380 )
2017
33
Prenatally diagnosed congenital diaphragmatic hernia: optimal mode of delivery? ( 28055024 )
2017
34
Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. ( 28925604 )
2017
35
Hybrid Stage I Procedure as Initial Palliation for Neonate With Hypoplastic Left Heart Syndrome and Right Congenital Diaphragmatic Hernia. ( 28100120 )
2017
36
Acute presentation of congenital diaphragmatic hernia requiring damage control laparotomy in an adult patient. ( 28775839 )
2017
37
Factors associated with early recurrence after congenital diaphragmatic hernia repair. ( 28359590 )
2017
38
Obstructive Jaundice Caused by Hepatic Torsion in an Infant with Congenital Diaphragmatic Hernia. ( 28082781 )
2017
39
Parenting stress among parents of children with congenital diaphragmatic hernia. ( 28527042 )
2017
40
Corrigendum to &amp;quot;delayed presentation of congenital diaphragmatic hernia manifesting as combined-type acute gastric volvulus: A case report and review of the literature&amp;quot; J Pediatr Surg 43 (3) (2008):E35-9. doi: 10.1016/j.Jpedsurg.2007.11.015. ( 28087138 )
2017
41
Feasibility and safety of intact cord resuscitation in newborn infants with congenital diaphragmatic hernia (CDH). ( 28860014 )
2017
42
Fetal Cardiac Impairment in Nitrofen-Induced Congenital Diaphragmatic Hernia: Postmortem Microcomputed Tomography Imaging Study. ( 28481127 )
2017
43
Clinical Outcome for Congenital Diaphragmatic Hernia at the Age of 1 Year in the Era of Fetal Intervention. ( 28866670 )
2017
44
Lung size and liver herniation predict need for extracorporeal membrane oxygenation but not pulmonary hypertension in isolated congenital diaphragmatic hernia: systematic review and meta-analysis. ( 27312047 )
2017
45
Percent predicted lung volume changes on fetal magnetic resonance imaging throughout gestation in congenital diaphragmatic hernia. ( 28385427 )
2017
46
Survival Disparities Associated with Congenital Diaphragmatic Hernia. ( 28398654 )
2017
47
3D assessment of the Umbilical Vein Deviation Angle (UVDA) for the prediction of liver herniation in Left Congenital Diaphragmatic Hernia. ( 28078737 )
2017
48
Safety and tolerability of subcutaneous treprostinil in newborns with congenital diaphragmatic hernia and life-threatening pulmonary hypertension. ( 28389079 )
2017
49
Respiratory syncytial virus associated hospitalizations in children with congenital diaphragmatic hernia. ( 28887119 )
2017
50
Rare combination of left-sided congenital diaphragmatic hernia and omphalocele. ( 28790097 )
2017

Variations for Diaphragmatic Hernia, Congenital

ClinVar genetic disease variations for Diaphragmatic Hernia, Congenital:

6
(show all 35)
# 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 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh37 Chromosome 18, 19751817: 19751817
4 GATA6 NM_005257.5(GATA6): c.712G> T (p.Gly238Ter) single nucleotide variant Pathogenic rs587777710 GRCh38 Chromosome 18, 22171856: 22171856
5 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh38 Chromosome 18, 22172216: 22172216
6 GATA6 NM_005257.5(GATA6): c.1072delG (p.Val358Cysfs) deletion Pathogenic rs587777711 GRCh37 Chromosome 18, 19752177: 19752177
7 FRAS1 NM_025074.6(FRAS1): c.9806G> A (p.Arg3269Gln) single nucleotide variant risk factor rs61729366 GRCh37 Chromosome 4, 79432453: 79432453
8 FRAS1 NM_025074.6(FRAS1): c.9806G> A (p.Arg3269Gln) single nucleotide variant risk factor rs61729366 GRCh38 Chromosome 4, 78511299: 78511299
9 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
10 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
11 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 GRCh37 Chromosome 9, 14842658: 14842658
12 FREM1 NM_144966.5(FREM1): c.1394G> C (p.Gly465Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41298151 GRCh38 Chromosome 9, 14842660: 14842660
13 FBN1 NM_000138.4(FBN1): c.4970_4971insA (p.Cys1658Leufs) insertion Likely pathogenic rs864309713 GRCh37 Chromosome 15, 48756190: 48756191
14 FBN1 NM_000138.4(FBN1): c.4970_4971insA (p.Cys1658Leufs) insertion Likely pathogenic rs864309713 GRCh38 Chromosome 15, 48463993: 48463994
15 46;X;t(X;10)(p11.2;q24.3) Translocation Uncertain significance
16 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
17 46;XY;t(1;6)(p22;q15)dn Translocation Uncertain significance
18 FREM2 NM_207361.5(FREM2): c.4031G> A (p.Arg1344His) single nucleotide variant Uncertain significance rs143044921 GRCh38 Chromosome 13, 38691375: 38691375
19 FREM2 NM_207361.5(FREM2): c.4031G> A (p.Arg1344His) single nucleotide variant Uncertain significance rs143044921 GRCh37 Chromosome 13, 39265512: 39265512
20 FREM2 NM_207361.5(FREM2): c.4558C> T (p.Arg1520Trp) single nucleotide variant Uncertain significance rs142322683 GRCh37 Chromosome 13, 39266039: 39266039
21 FREM2 NM_207361.5(FREM2): c.4558C> T (p.Arg1520Trp) single nucleotide variant Uncertain significance rs142322683 GRCh38 Chromosome 13, 38691902: 38691902
22 FRAS1 NM_025074.6(FRAS1): c.2389G> A (p.Glu797Lys) single nucleotide variant risk factor rs372359356 GRCh38 Chromosome 4, 78337784: 78337784
23 FRAS1 NM_025074.6(FRAS1): c.2389G> A (p.Glu797Lys) single nucleotide variant risk factor rs372359356 GRCh37 Chromosome 4, 79258938: 79258938
24 FRAS1 NM_025074.6(FRAS1): c.6323A> T (p.Asp2108Val) single nucleotide variant risk factor rs921444831 GRCh38 Chromosome 4, 78450199: 78450199
25 FRAS1 NM_025074.6(FRAS1): c.6323A> T (p.Asp2108Val) single nucleotide variant risk factor rs921444831 GRCh37 Chromosome 4, 79371353: 79371353
26 GLI3 NM_000168.5(GLI3): c.2726C> G (p.Ala909Gly) single nucleotide variant risk factor rs780263938 GRCh37 Chromosome 7, 42005945: 42005945
27 GLI3 NM_000168.5(GLI3): c.2726C> G (p.Ala909Gly) single nucleotide variant risk factor rs780263938 GRCh38 Chromosome 7, 41966347: 41966347
28 ROBO4 NM_019055.5(ROBO4): c.569G> C (p.Gly190Ala) single nucleotide variant risk factor rs756636036 GRCh37 Chromosome 11, 124766204: 124766204
29 ROBO4 NM_019055.5(ROBO4): c.569G> C (p.Gly190Ala) single nucleotide variant risk factor rs756636036 GRCh38 Chromosome 11, 124896308: 124896308
30 FREM2 NM_207361.5(FREM2): c.4994C> T (p.Ser1665Phe) single nucleotide variant risk factor GRCh38 Chromosome 13, 38692338: 38692338
31 FREM2 NM_207361.5(FREM2): c.4994C> T (p.Ser1665Phe) single nucleotide variant risk factor GRCh37 Chromosome 13, 39266475: 39266475
32 FREM2 NM_207361.5(FREM2): c.5938_5940delCTT (p.Leu1981del) deletion Likely pathogenic rs775394591 GRCh38 Chromosome 13, 38784727: 38784729
33 FREM2 NM_207361.5(FREM2): c.5938_5940delCTT (p.Leu1981del) deletion Likely pathogenic rs775394591 GRCh37 Chromosome 13, 39358864: 39358866
34 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh38 Chromosome 5, 36984990: 36984991
35 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 50)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.96 GATA6 GLI3 NR2F2 ZFPM2
2 male gonad development GO:0008584 9.87 GATA4 GATA6 WT1
3 anterior/posterior pattern specification GO:0009952 9.86 ALDH1A2 GLI3 NR2F2
4 response to estradiol GO:0032355 9.86 ALDH1A2 FGF10 NR2F2
5 kidney development GO:0001822 9.86 ALDH1A2 GLI3 STRA6 WT1
6 epithelial cell differentiation GO:0030855 9.85 FGF10 GATA6 WT1
7 embryonic limb morphogenesis GO:0030326 9.82 ALDH1A2 FRAS1 GLI3
8 cell communication GO:0007154 9.81 FRAS1 FREM1 FREM2
9 heart development GO:0007507 9.8 FREM2 GATA4 GATA6 GLI3 STRA6 WT1
10 digestive tract development GO:0048565 9.79 FGF10 GATA4 GATA6
11 forebrain development GO:0030900 9.78 ALDH1A2 GLI3 NKX2-1 NR2F2
12 limb development GO:0060173 9.77 FGF10 GLI3 NR2F2
13 camera-type eye development GO:0043010 9.76 ALDH1A2 GLI3 STRA6 WT1
14 pituitary gland development GO:0021983 9.74 ALDH1A2 FGF10 NKX2-1
15 tissue development GO:0009888 9.72 GATA4 GATA6 WT1
16 limb morphogenesis GO:0035108 9.71 FGF10 GLI3
17 proximal/distal pattern formation GO:0009954 9.71 ALDH1A2 GLI3
18 pancreas development GO:0031016 9.71 ALDH1A2 FGF10 GATA6
19 response to vitamin A GO:0033189 9.7 ALDH1A2 GATA4
20 adrenal gland development GO:0030325 9.7 STRA6 WT1
21 embryonic digestive tract morphogenesis GO:0048557 9.7 FGF10 GLI3
22 morphogenesis of an epithelium GO:0002009 9.7 FRAS1 FREM2
23 retinoic acid metabolic process GO:0042573 9.69 ALDH1A2 STRA6
24 epithelial tube branching involved in lung morphogenesis GO:0060441 9.69 FGF10 NKX2-1
25 smooth muscle cell differentiation GO:0051145 9.68 FGF10 GATA6
26 embryonic camera-type eye development GO:0031076 9.68 ALDH1A2 FGF10
27 diaphragm development GO:0060539 9.67 STRA6 WT1
28 cardiac muscle tissue development GO:0048738 9.67 ALDH1A2 GATA6 ZFPM2
29 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GATA4 GATA6 GLI3 NKX2-1
30 cellular response to gonadotropin stimulus GO:0071371 9.66 GATA6 WT1
31 positive regulation of male gonad development GO:2000020 9.66 WT1 ZFPM2
32 forebrain dorsal/ventral pattern formation GO:0021798 9.65 GLI3 NKX2-1
33 intestinal epithelial cell differentiation GO:0060575 9.65 GATA4 GATA6
34 animal organ formation GO:0048645 9.64 FGF10 GATA6
35 positive regulation of cardioblast differentiation GO:0051891 9.63 GATA4 GATA6
36 animal organ morphogenesis GO:0009887 9.63 ELN FGF10 GATA4 GATA6 NKX2-1 PAX3
37 embryonic digestive tract development GO:0048566 9.62 ALDH1A2 FGF10 GLI3 STRA6
38 Clara cell differentiation GO:0060486 9.61 GATA6 NKX2-1
39 metanephros morphogenesis GO:0003338 9.61 FGF10 FRAS1
40 lung saccule development GO:0060430 9.61 FGF10 GATA6 NKX2-1
41 positive regulation of transcription, DNA-templated GO:0045893 9.61 FGF10 GATA4 GATA6 GLI3 NKX2-1 NR2F2
42 negative regulation of female gonad development GO:2000195 9.58 WT1 ZFPM2
43 nose morphogenesis GO:0043585 9.58 GLI3 STRA6
44 Type II pneumocyte differentiation GO:0060510 9.58 FGF10 GATA6 NKX2-1
45 mammary gland specification GO:0060594 9.52 FGF10 GLI3
46 lung development GO:0030324 9.1 ALDH1A2 FGF10 GLI3 NKX2-1 STRA6 ZFPM2
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 GATA6 GLI3 NKX2-1 NR2F2 WT1 ZFPM2
48 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 FGF10 GATA4 GATA6 GLI3 NKX2-1 PAX3
49 transcription by RNA polymerase II GO:0006366 10.1 GATA4 GATA6 GLI3 PAX3 WT1 ZFPM2
50 negative regulation of transcription, DNA-templated GO:0045892 10.07 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 GO:0003700 9.8 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.76 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3
3 transcription regulatory region DNA binding GO:0044212 9.71 GATA4 GATA6 NKX2-1 WT1
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.67 GATA4 GATA6 GLI3 NKX2-1
5 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.43 ALDH1A2 GAPDH
6 retinal binding GO:0016918 9.32 ALDH1A2 STRA6
7 sequence-specific DNA binding GO:0043565 9.17 GATA4 GATA6 GLI3 NKX2-1 NR2F2 PAX3
8 RNA polymerase II transcription factor binding GO:0001085 9.13 GATA4 GATA6 ZFPM2

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
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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