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MCID: OMP004
MIFTS: 52

Omphalocele

Categories: Fetal diseases, Gastrointestinal diseases, Liver diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Omphalocele

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MalaCards integrated aliases for Omphalocele:

Name: Omphalocele 12 60 56 15
Congenital Omphalocele 74
Omphalocoele 12

Characteristics:

Orphanet epidemiological data:

60
omphalocele
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-9/100000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine),1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Gastrointestinal diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060327
ICD9CM 36 756.72
MeSH 45 D006554
NCIt 51 C98997
ICD10 34 Q79.2
ICD10 via Orphanet 35 Q79.2
UMLS via Orphanet 75 C0795690
Orphanet 60 ORPHA660
SNOMED-CT via HPO 70 282020008 367494004 49550006
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Summaries for Omphalocele

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Disease Ontology : 12 A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.

MalaCards based summary : Omphalocele, also known as congenital omphalocele, is related to omphalocele, autosomal and omphalocele, x-linked. An important gene associated with Omphalocele is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One carbon pool by folate. The drugs Pharmaceutical Solutions and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are omphalocele and premature birth

Wikipedia : 77 Omphalocele, also called exomphalos, is a rare abdominal wall defect in which the intestines, liver and... more...

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Related Diseases for Omphalocele

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Diseases in the Omphalocele family:

Omphalocele, Autosomal

Diseases related to Omphalocele via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 omphalocele, autosomal 34.3 GJB2 PLOD1
2 omphalocele, x-linked 33.6 GJB2 PLOD1
3 beckwith-wiedemann syndrome 32.0 AFP CDKN1C KCNQ1OT1
4 anus, imperforate 30.8 GLI3 MNX1
5 umbilical hernia 29.7 CDKN1C PLOD1
6 anencephaly 29.6 AFP MTHFD1 MTHFR
7 neural tube defects 29.0 AFP MNX1 MTHFD1 MTHFR TCN2 ZIC3
8 shprintzen omphalocele syndrome 12.6
9 omphalocele-cleft palate syndrome, lethal 12.6
10 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 12.5
11 omphalocele, diaphragmatic hernia, and radial ray defects 12.3
12 abdominal wall defect 12.0
13 diaphragmatic agenesis radial aplasia omphalocele 12.0
14 familial omphalocele syndrome with facial dysmorphism 12.0
15 gastroschisis 11.7
16 oeis complex 11.6
17 pagod syndrome 11.6
18 game friedman paradice syndrome 11.6
19 exstrophy of bladder 11.5
20 otopalatodigital syndrome, type ii 11.3
21 manitoba oculotrichoanal syndrome 11.2
22 hypertelorism, teebi type 11.0
23 acrocephalopolydactylous dysplasia 11.0
24 donnai-barrow syndrome 11.0
25 3mc syndrome 3 11.0
26 3mc syndrome 1 11.0
27 3mc syndrome 2 11.0
28 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.0
29 fibrochondrogenesis 11.0
30 froster-huch syndrome 11.0
31 ichthyosis follicularis atrichia photophobia syndrome 11.0
32 methimazole antenatal exposure 11.0
33 schisis association 11.0
34 hemihyperplasia, isolated 10.3 CDKN1C KCNQ1OT1
35 diaphragmatic hernia, congenital 10.2
36 chromosomal triplication 10.2
37 spastic paraplegia 17, autosomal dominant 10.2 CDKN1C KCNQ1OT1
38 neural tube defects, folate-sensitive 10.1
39 turner syndrome 10.1
40 mercury poisoning 10.1
41 ectopia cordis 10.1
42 vitamin metabolic disorder 10.1 CD320 MTHFR TCN2
43 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.1 CD320 MTHFR TCN2
44 down syndrome 10.1
45 pulmonary hypertension 10.1
46 ventricular septal defect 10.1
47 sacrococcygeal teratoma 10.1 AFP MNX1
48 testicular infarct 10.1 AFP MTHFR
49 upper thoracic spina bifida cystica 10.0 MTHFD1 MTHFR
50 germ cell and embryonal cancer 10.0 AFP CDKN1C MNX1

Graphical network of the top 20 diseases related to Omphalocele:



Diseases related to Omphalocele
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Symptoms & Phenotypes for Omphalocele

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Human phenotypes related to Omphalocele:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0001539
2 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622

GenomeRNAi Phenotypes related to Omphalocele according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.92 AFP GLI3 MTHFR NUAK1

MGI Mouse Phenotypes related to Omphalocele:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
2 mortality/aging MP:0010768 10.28 AFP ALX4 BMP1 BMPR1A FLNA FREM1
3 cardiovascular system MP:0005385 10.26 BMP1 BMPR1A CD320 FLNA GJB2 GLI3
4 homeostasis/metabolism MP:0005376 10.24 AFP BMP1 BMPR1A CD320 FLNA GJB2
5 craniofacial MP:0005382 10.2 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
6 embryo MP:0005380 10.13 ALX4 BMP1 BMPR1A GJB2 GLI3 MTHFD1
7 limbs/digits/tail MP:0005371 10.11 ALX4 BMP1 BMPR1A FREM1 GJB2 GLI3
8 nervous system MP:0003631 10.11 ALX4 BMPR1A FLNA FREM1 GJB2 GLI3
9 digestive/alimentary MP:0005381 10.08 ALX4 BMP1 FLNA FREM1 GLI3 MNX1
10 integument MP:0010771 10.02 ALX4 BMPR1A FREM1 GJB2 GLI3 MTHFR
11 muscle MP:0005369 9.95 ALX4 BMP1 BMPR1A FREM1 MNX1 NUAK1
12 normal MP:0002873 9.92 ALX4 BMPR1A FLNA FREM1 GJB2 GLI3
13 reproductive system MP:0005389 9.91 AFP BMPR1A CD320 FLNA FREM1 GJB2
14 respiratory system MP:0005388 9.7 ALX4 BMPR1A FLNA FREM1 GLI3 MNX1
15 skeleton MP:0005390 9.7 ALX4 BMP1 BMPR1A FLNA FREM1 GJB2
16 vision/eye MP:0005391 9.32 ALX4 BMPR1A CD320 FLNA FREM1 GJB2
Sources

Drugs & Therapeutics for Omphalocele

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Drugs for Omphalocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4,Not Applicable
2
leucovorin Approved Phase 3 58-05-9 143 6006
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
4 Vitamins Phase 3,Not Applicable
5 Vitamin B Complex Phase 3
6 Trace Elements Phase 3,Not Applicable
7 Folate Phase 3
8 Micronutrients Phase 3,Not Applicable
9 Nutrients Phase 3
10 Hematinics Phase 3
11 Vitamin B9 Phase 3
12
Sodium oxybate Approved Not Applicable 502-85-2 5360545
13 lysine Not Applicable
14 Fluorides Not Applicable
15 Anesthetics, Intravenous Not Applicable
16 Anesthetics Not Applicable
17 Central Nervous System Depressants Not Applicable
18 Adjuvants, Anesthesia Not Applicable
19 Anesthetics, General Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Usefulness of a Prothetic Absorbable Mesh in Incisional Hernia Prevention After Midline Laparotomy Unknown status NCT02208557 Phase 4
2 Multi-Center Study To Examine The Use Of Flex HD® And Strattice In The Repair Of Large Abdominal Wall Hernias Completed NCT01987700 Phase 4
3 Prophylaxis of Ileostomy Closure Site Hernia by Placing Mesh Recruiting NCT02226887 Phase 4
4 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
5 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279 Not Applicable
6 Impact of the Systematic Closure of the Epigastric Trocar on Postoperative Incisional Hernia After Sleeve Gastrectomy Rate of First Intention. Monocentric Study, Before / After Prospective. Unknown status NCT02973009
7 ProLOVE - Prospective Randomized Study of Midline Incisional Hernia Treatment Completed NCT00472537
8 Health Related Quality of Life of Patients With Abdominal Wall Defects Completed NCT03960320
9 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
10 Utility of a Supraaponeurotic Mesh as Prophylaxis of the Midline Eventration After an Oncological Colorrectal Resection Recruiting NCT03520465 Not Applicable
11 The Efficacy and Security of the Small Stitch Technique in Emergency Surgery Recruiting NCT03765060 Not Applicable
12 Cost-effectiveness Analysis Between Biosynthetic and Biological Parietal Prostheses Recruiting NCT03590184
13 Interest of the Manual Exploration as a Supplement to the Coelioscopy in the Evaluation of the Resectability of Peritoneal Carcinosis Recruiting NCT02493972 Not Applicable
14 Impact of Life Events and Psychological Stress in Rheumatoid Arthritis Set-up : Case-control Study Within a Multifactorial and Integrative Psychological Model Recruiting NCT03550833
15 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
16 Genetic Analysis of Congenital Diaphragmatic Disorders Active, not recruiting NCT01243229
17 Primary Fascial Closure With Laparoscopic Ventral Hernia Repair: A Randomized Controlled Trial Active, not recruiting NCT02363790 Not Applicable
18 Mini-laparotomy Versus Mini Lumbotomy Not yet recruiting NCT02888613 Not Applicable

Search NIH Clinical Center for Omphalocele

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Genetic Tests for Omphalocele

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Anatomical Context for Omphalocele

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MalaCards organs/tissues related to Omphalocele:

42
Liver, Heart, Skin, Spleen, Brain, Small Intestine, Colon
Sources

Publications for Omphalocele

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Articles related to Omphalocele:

(show top 50) (show all 734)
# Title Authors Year
1
Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele. ( 30892123 )
2019
2
Omphalocele: from diagnosis to growth and development at 2 years of age. ( 29563149 )
2019
3
Intestinal malrotation in infants with omphalocele: A systematic review and meta-analysis. ( 30309732 )
2019
4
Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases. ( 31018788 )
2019
5
Operative versus conservative treatment for giant omphalocele: Study of French and Ivorian management. ( 31047764 )
2019
6
Ruptured omphalocele: Diagnosis and management. ( 31072456 )
2019
7
Cardiac anomalies associated with omphalocele. ( 31072458 )
2019
8
Respiratory disorders in patients with omphalocele. ( 31072459 )
2019
9
Long term complications and outcomes in omphalocele. ( 31072460 )
2019
10
Insights into embryology and development of omphalocele. ( 31072462 )
2019
11
Prenatal diagnosis and management of omphalocele. ( 31072463 )
2019
12
Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele firmly attached to the amniotic membrane: Successful prenatal diagnosis and cesarean delivery. ( 28686315 )
2018
13
Diagnosis and management of a fatal case of sepsis caused by Candida parapsilosis sensu stricto in a neonate with omphalocele. ( 29348997 )
2018
14
Patent Omphalomesenteric Duct with Protruding Bowels through a Ruptured Omphalocele. ( 29400311 )
2018
15
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed. ( 29416290 )
2018
16
Ex utero intrapartum treatment for giant congenital omphalocele. ( 29508360 )
2018
17
Dressed for success? Silver impregnated nanocrystalline dressing for initial treatment of giant omphalocele. ( 29519568 )
2018
18
Is omphalocele a non-specific malformation in New Zealand White rabbits? ( 29550350 )
2018
19
TiO2 nanoparticles induce omphalocele in chicken embryo by disrupting Wnt signaling pathway. ( 29555972 )
2018
20
Accuracy and impact of prenatal diagnosis in infants with omphalocele. ( 29637257 )
2018
21
Repair of a Giant Omphalocele in an Infant With a Pericardial Implant Crosslinked With Oligourethane. ( 29660797 )
2018
22
Vitelline fistula associated with omphalocele: Diagnostic dilemma? ( 29709845 )
2018
23
ZORRO: Z Omphaloplasty Repair for Omphalocele. ( 29735202 )
2018
24
Early surgical management for giant omphalocele: Results and prognostic factors. ( 29803304 )
2018
25
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele. ( 30090960 )
2018
26
Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele. ( 30237319 )
2018
27
Omphalomesenteric Duct Fistula with Ileal Prolapse within an Omphalocele. ( 30269727 )
2018
28
Omphalocele and epigastric heteropagus: implications and treatment. ( 30302264 )
2018
29
First-trimester cystic hygroma and omphalocele in a fetus with Turner syndrome. ( 30342669 )
2018
30
Outcomes in omphalocele correlate with size of defect. ( 30414688 )
2018
31
Nonoperative management of giant omphalocele leading to early fascial closure. ( 30503247 )
2018
32
15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies. ( 30538881 )
2018
33
[Correction: Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany]. ( 27533496 )
2018
34
Not gastroschisis or omphalocele or anything in between: a novel congenital abdominal wall defect. ( 28271155 )
2017
35
Giant Omphalocele Complicated by Postoperative Duodenal Obstruction. ( 28164002 )
2017
36
A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings. ( 28892921 )
2017
37
Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex with Genital Anomalies in a Late Preterm Infant. ( 30787756 )
2017
38
The use of ECMO for gastroschisis and omphalocele: Two decades of experience. ( 28410786 )
2017
39
Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic. ( 28770124 )
2017
40
A rare case of OEIS complex - newer approach to diagnosis of exstrophy bladder by color doppler and its differentiation from simple omphalocele. ( 29379239 )
2017
41
Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases. ( 27160889 )
2017
42
Herniated liver mimicking an intracardiac mass in a newborn with omphalocele. ( 27720185 )
2017
43
Umbilical cord sparing technique for repair of congenital hernia into the cord and small omphalocele. ( 27837991 )
2017
44
The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele. ( 28150314 )
2017
45
Staged closure of a giant omphalocele with amnion preservation, modified technique. ( 28397950 )
2017
46
High Prevalence of Pulmonary Hypertension Complicates the Care of Infants with Omphalocele. ( 28704835 )
2017
47
Rare combination of left-sided congenital diaphragmatic hernia and omphalocele. ( 28790097 )
2017
48
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. ( 28794915 )
2017
49
Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. ( 28904658 )
2017
50
Does omphalocele major undergo spontaneous closure? ( 28928917 )
2017
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Variations for Omphalocele

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ClinVar genetic disease variations for Omphalocele:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
2 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
3 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
4 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571

Copy number variations for Omphalocele from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 137137 2 138750000 144750000 Deletion ARHGAP15 Omphalocele
2 137141 2 138750000 144750000 Deletion GTDC1 Omphalocele
3 137145 2 138750000 144750000 Deletion HNMT Omphalocele
4 137149 2 138750000 144750000 Deletion KYNU Omphalocele
5 137153 2 138750000 144750000 Deletion LOC64702 Omphalocele
6 137157 2 138750000 144750000 Deletion LRP1B Omphalocele
7 137161 2 138750000 144750000 Deletion NXPH2 Omphalocele
8 137165 2 138750000 144750000 Deletion SPOPL Omphalocele
Sources

Expression for Omphalocele

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Search GEO for disease gene expression data for Omphalocele.
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Pathways for Omphalocele

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Pathways related to Omphalocele according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of water-soluble vitamins and cofactors 67
Show member pathways
 12.16 CD320 MTHFD1 MTHFR TCN2
2
One carbon pool by folate 38
Show member pathways
 11.48 MTHFD1 MTHFR TCN2
3
Endochondral Ossification 1
10.61 BMPR1A CDKN1C GLI3
4
Cobalamin (Cbl, vitamin B12) transport and metabolism 67
10.28 CD320 TCN2
Sources

GO Terms for Omphalocele

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Biological processes related to Omphalocele according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.73 ALX4 BMP1 CDKN1C
2 lung development GO:0030324 9.65 BMPR1A GLI3 ZIC3
3 limb morphogenesis GO:0035108 9.55 ALX4 GLI3
4 one-carbon metabolic process GO:0006730 9.54 MTHFD1 MTHFR
5 cobalamin metabolic process GO:0009235 9.52 CD320 TCN2
6 folic acid metabolic process GO:0046655 9.51 MTHFD1 MTHFR
7 roof of mouth development GO:0060021 9.5 ALX4 BMPR1A GLI3
8 embryonic morphogenesis GO:0048598 9.49 BMPR1A GLI3
9 regulation of cellular senescence GO:2000772 9.46 BMPR1A NUAK1
10 methionine biosynthetic process GO:0009086 9.43 MTHFD1 MTHFR
11 tetrahydrofolate interconversion GO:0035999 9.4 MTHFD1 MTHFR
12 cobalamin transport GO:0015889 9.37 CD320 TCN2
13 embryonic digit morphogenesis GO:0042733 9.33 ALX4 BMPR1A GLI3
14 methionine metabolic process GO:0006555 9.26 MTHFD1 MTHFR
15 anterior/posterior pattern specification GO:0009952 9.26 ALX4 BMPR1A GLI3 ZIC3
16 pattern specification process GO:0007389 8.92 ALX4 BMPR1A GLI3 ZIC3

Molecular functions related to Omphalocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.65 AFP BMP1 BMPR1A CD320 FREM1 GLI3
2 cobalamin binding GO:0031419 8.62 CD320 TCN2
Sources

Sources for Omphalocele

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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