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	omphalocele

Disease ID	270
Disease	omphalocele
Definition	A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.
Synonym	amniocele congenital omphalocele congenital omphalocele (disorder) exomphalos omphalecele omphaloceles omphalocoele unspecified omphalocele unspecified omphalocele (disorder)
Orphanet	ORPHANET:660
DOID	DOID:0060327
ICD10	ICD10CM:Q79.2
UMLS	C0795690
SNOMED-CT	SNOMEDCT_US_2016_09_01:18735004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0265706 \| gastroschisis \| 3 C0028326 \| noonan syndrome \| 1 C0042961 \| volvulus \| 1 C0025037 \| meckel's diverticulum \| 1 C0031039 \| pericardial effusion \| 1 C0152096 \| trisomy 18 \| 1 C0039538 \| teratoma \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0152101 \| hypoplastic left heart \| 1 C0152021 \| congenital heart disease \| 1 C0019284 \| diaphragmatic hernia \| 1 C0018799 \| heart disease \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4522 \| MTHFD1 \| CIPHER 4524 \| MTHFR \| CIPHER 6573 \| SLC19A1 \| CIPHER 6948 \| TCN2 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:76) 23456 \| ABCB10 \| 2.227 \| DISEASES 174 \| AFP \| 4.673 \| DISEASES 29929 \| ALG6 \| 2.767 \| DISEASES 60529 \| ALX4 \| 4.045 \| DISEASES 342371 \| ATXN1L \| 3.691 \| DISEASES 64919 \| BCL11B \| 1.844 \| DISEASES 7439 \| BEST1 \| 1.308 \| DISEASES 811 \| CALR \| 2.139 \| DISEASES 1028 \| CDKN1C \| 4.142 \| DISEASES 1193 \| CLIC2 \| 2.996 \| DISEASES 78987 \| CRELD1 \| 1.279 \| DISEASES 1497 \| CTNS \| 1.553 \| DISEASES 79469 \| DLEU2L \| 4.263 \| DISEASES 29940 \| DSE \| 1.612 \| DISEASES 1855 \| DVL1 \| 1.658 \| DISEASES 1781 \| DYNC1I2 \| 2.797 \| DISEASES 84455 \| EFCAB7 \| 3.911 \| DISEASES 79813 \| EHMT1 \| 2.091 \| DISEASES 2048 \| EPHB2 \| 1.505 \| DISEASES 2049 \| EPHB3 \| 3.246 \| DISEASES 2118 \| ETV4 \| 1.368 \| DISEASES 2138 \| EYA1 \| 2.107 \| DISEASES 2139 \| EYA2 \| 2.839 \| DISEASES 2187 \| FANCB \| 1.941 \| DISEASES 2263 \| FGFR2 \| 1.437 \| DISEASES 2316 \| FLNA \| 2.53 \| DISEASES 27022 \| FOXD3 \| 1.637 \| DISEASES 2304 \| FOXE1 \| 1.288 \| DISEASES 158326 \| FREM1 \| 2.49 \| DISEASES 2571 \| GAD1 \| 1.031 \| DISEASES 2736 \| GLI2 \| 1.093 \| DISEASES 2737 \| GLI3 \| 2.44 \| DISEASES 9402 \| GRAP2 \| 1.809 \| DISEASES 79712 \| GTDC1 \| 3.587 \| DISEASES 3212 \| HOXB2 \| 2.711 \| DISEASES 3214 \| HOXB4 \| 2.192 \| DISEASES 219844 \| HYLS1 \| 1.713 \| DISEASES 3481 \| IGF2 \| 4.006 \| DISEASES 3482 \| IGF2R \| 1.235 \| DISEASES 23421 \| ITGB3BP \| 3.463 \| DISEASES 3714 \| JAG2 \| 1.524 \| DISEASES 3767 \| KCNJ11 \| 1.739 \| DISEASES 10984 \| KCNQ1OT1 \| 3.267 \| DISEASES 3980 \| LIG3 \| 1.187 \| DISEASES 53353 \| LRP1B \| 2.141 \| DISEASES 389840 \| MAP3K15 \| 3.87 \| DISEASES 4082 \| MARCKS \| 1.657 \| DISEASES 8510 \| MMP23B \| 2.643 \| DISEASES 4487 \| MSX1 \| 1.521 \| DISEASES 4522 \| MTHFD1 \| 1.847 \| DISEASES 4524 \| MTHFR \| 1.334 \| DISEASES 4548 \| MTR \| 1.2 \| DISEASES 4776 \| NFATC4 \| 2.218 \| DISEASES 2516 \| NR5A1 \| 1.149 \| DISEASES 389643 \| NUGGC \| 4.338 \| DISEASES 4958 \| OMD \| 1.883 \| DISEASES 10611 \| PDLIM5 \| 1.765 \| DISEASES 5236 \| PGM1 \| 1.469 \| DISEASES 5420 \| PODXL \| 1.486 \| DISEASES 64840 \| PORCN \| 3.059 \| DISEASES 5592 \| PRKG1 \| 1.455 \| DISEASES 5727 \| PTCH1 \| 1.433 \| DISEASES 6093 \| ROCK1 \| 2.675 \| DISEASES 10572 \| SIVA1 \| 2.474 \| DISEASES 57468 \| SLC12A5 \| 1.681 \| DISEASES 9748 \| SLK \| 2.091 \| DISEASES 6622 \| SNCA \| 2.012 \| DISEASES 6628 \| SNRPB \| 1.51 \| DISEASES 64220 \| STRA6 \| 2.188 \| DISEASES 7054 \| TH \| 1.166 \| DISEASES 84000 \| TMPRSS13 \| 2.435 \| DISEASES 162514 \| TRPV3 \| 2.178 \| DISEASES 117581 \| TWIST2 \| 1.844 \| DISEASES 7316 \| UBC \| 1.46 \| DISEASES 10090 \| UST \| 2.133 \| DISEASES 7481 \| WNT11 \| 1.932 \| DISEASES
Locus	(Waiting for update.)

Disease ID	270
Disease	omphalocele
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0001539 \| Omphalocele HP:0001622 \| Premature birth
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0001683 \| Ectopia cordis \| 4 HP:0001543 \| Gastroschisis \| 3 HP:0000078 \| Genital abnormalities \| 2 HP:0100790 \| Hernia \| 2 HP:0100839 \| Hepatic agenesis \| 1 HP:0001541 \| Ascites \| 1 HP:0001662 \| Bradycardia \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0000775 \| Diaphragmatic defect \| 1 HP:0001528 \| Hemihypertrophy \| 1 HP:0000961 \| Cyanosis \| 1 HP:0002580 \| Volvulus \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0010866 \| Congenital anterior abdominal wall defect \| 1 HP:0200037 \| Skin vesicle \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0012281 \| Chylous ascites \| 1 HP:0009827 \| Amelia \| 1 HP:0009914 \| Cyclopia \| 1 HP:0000003 \| Multicystic kidney dysplasia \| 1 HP:0001698 \| Pericardial effusions \| 1 HP:0002836 \| Bladder exstrophy \| 1 HP:0030722 \| Ectopic liver \| 1 HP:0100548 \| Exstrophy \| 1 HP:0100842 \| Septo-optic dysplasia \| 1 HP:0009792 \| Teratoma \| 1

Disease ID	270
Disease	omphalocele
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C1705254 \| congenital malformation C0520562 \| intestinal dilatation C0340425 \| hypertrophic cardiomyopathy C0272414 \| wandering spleen C0265217 \| lethal multiple pterygium syndrome C0042143 \| uterine rupture C0041207 \| persistent truncus arteriosus C0033770 \| prune-belly syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0000768 \| congenital malformation \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1801131	22116453	4524	MTHFR	umls:C0795690	BeFree	In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele.	0.002909916	2012	MTHFR	1	11794419	T	G
rs2232775	22116453	4524	MTHFR	umls:C0795690	BeFree	In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele.	0.002909916	2012	NDUFA7;CD320	19	8308268	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001622	Premature birth	MP:0009703	decreased birth body size	reduction in average body size at birth compared to controls

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001622	Premature birth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001539	Omphalocele	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland

Disease ID	270
Disease	omphalocele
Case	(Waiting for update.)

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