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	congenital diaphragmatic hernia

Disease ID	223
Disease	congenital diaphragmatic hernia
Definition	Diaphragmatic hernia that is present at birth.
Synonym	agenesis of hemidiaphragm cdh - congenital diaphragmatic hernia congenital diaphragmatic defect congenital diaphragmatic defects congenital diaphragmatic hernia (disorder) congenital diaphragmatic hernia, nos congenital diaphragmatic hernias congenital hernia, diaphragmatic defect, congenital diaphragmatic defects, congenital diaphragmatic diaphragm unilateral ageneses diaphragm unilateral agenesis diaphragm, unilateral agenesis of diaphragmatic defect, congenital diaphragmatic defects, congenital diaphragmatic hernia, congenital diaphragmatic hernias, congenital dih hemidiaphragm ageneses hemidiaphragm agenesis hemidiaphragm, agenesis of hernia, congenital diaphragmatic hernia, diaphragmatic, congenital hernias, congenital diaphragmatic hernias, diaphragmatic, congenital hernias, diaphragmatic, congenital [disease/finding] unilateral agenesis of diaphragm
Orphanet	ORPHANET:2140
OMIM	OMIM:142340
DOID	DOID:3827
ICD10	ICD10CM:Q79.0
UMLS	C0235833
MeSH	D065630
SNOMED-CT	SNOMEDCT_US_2016_09_01:17190001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:37) C0020538 \| hypertension \| 14 C0020542 \| pulmonary hypertension \| 13 C0014850 \| esophageal atresia \| 5 C1145670 \| respiratory failure \| 5 C1565489 \| renal insufficiency \| 2 C0001623 \| adrenal insufficiency \| 2 C0042961 \| volvulus \| 2 C0152021 \| congenital heart disease \| 1 C0220730 \| fryns syndrome \| 1 C0010674 \| cystic fibrosis \| 1 C0795864 \| smith-magenis syndrome \| 1 C0152095 \| trisomy 13 \| 1 C0007177 \| cardiac tamponade \| 1 C0014850 \| oesophageal atresia \| 1 C0018784 \| sensorineural hearing loss \| 1 C0035229 \| respiratory insufficiency \| 1 C0013080 \| trisomy 21 \| 1 C0028860 \| lowe syndrome \| 1 C0017168 \| oesophageal reflux \| 1 C0017168 \| gastroesophageal reflux disease \| 1 C0265706 \| gastroschisis \| 1 C0010308 \| congenital hypothyroidism \| 1 C0020224 \| polyhydramnios \| 1 C0017168 \| esophageal reflux disease \| 1 C0006287 \| bronchopulmonary dysplasia \| 1 C0018818 \| ventricular septal defect \| 1 C0020676 \| hypothyroidism \| 1 C0080178 \| spina bifida \| 1 C0018799 \| heart disease \| 1 C0017168 \| gastroesophageal reflux \| 1 C0017168 \| esophageal reflux \| 1 C0019291 \| hiatal hernia \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0022354 \| obstructive jaundice \| 1 C0019284 \| diaphragmatic hernia \| 1 C0079924 \| oligohydramnios \| 1 C0024115 \| lung disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 2627 \| GATA6 \| ORPHANET 3480 \| IGF1R \| CTD_human 53834 \| FGFRL1 \| CTD_human 7490 \| WT1 \| CTD_human 2626 \| GATA4 \| CTD_human;GHR 3643 \| INSR \| CTD_human 1490 \| CTGF \| CTD_human 23414 \| ZFPM2 \| ORPHANET;GHR 3482 \| IGF2R \| CTD_human 4654 \| MYOD1 \| CTD_human 158326 \| FREM1 \| CTD_human 1732 \| DIH1 \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:137) 34 \| ACADM \| 1.395 \| DISEASES 60 \| ACTB \| 2.686 \| DISEASES 94 \| ACVRL1 \| 2.486 \| DISEASES 84890 \| ADO \| 2.659 \| DISEASES 174 \| AFP \| 1.61 \| DISEASES 183 \| AGT \| 1.266 \| DISEASES 186 \| AGTR2 \| 1.658 \| DISEASES 84335 \| AKT1S1 \| 1.214 \| DISEASES 220 \| ALDH1A3 \| 1.267 \| DISEASES 501 \| ALDH7A1 \| 1.116 \| DISEASES 10620 \| ARID3B \| 2.199 \| DISEASES 54829 \| ASPN \| 1.032 \| DISEASES 1822 \| ATN1 \| 1.721 \| DISEASES 126792 \| B3GALT6 \| 2.512 \| DISEASES 659 \| BMPR2 \| 2.444 \| DISEASES 779 \| CACNA1S \| 1.11 \| DISEASES 22900 \| CARD8 \| 1.468 \| DISEASES 1010 \| CDH12 \| 2.271 \| DISEASES 1006 \| CDH8 \| 2.201 \| DISEASES 1280 \| COL2A1 \| 1.217 \| DISEASES 1284 \| COL4A2 \| 1.252 \| DISEASES 1297 \| COL9A1 \| 1.595 \| DISEASES 64506 \| CPEB1 \| 1.713 \| DISEASES 594855 \| CPLX3 \| 2.558 \| DISEASES 1506 \| CTRL \| 1.362 \| DISEASES 613211 \| DEFB134 \| 3.393 \| DISEASES 613209 \| DEFB135 \| 3.589 \| DISEASES 285489 \| DOK7 \| 1.364 \| DISEASES 11072 \| DUSP14 \| 2.422 \| DISEASES 1855 \| DVL1 \| 1.023 \| DISEASES 1906 \| EDN1 \| 3.05 \| DISEASES 1910 \| EDNRB \| 1.651 \| DISEASES 23741 \| EID1 \| 1.7 \| DISEASES 1999 \| ELF3 \| 1.159 \| DISEASES 3266 \| ERAS \| 1.636 \| DISEASES 2138 \| EYA1 \| 1.382 \| DISEASES 10516 \| FBLN5 \| 1.981 \| DISEASES 2200 \| FBN1 \| 2.425 \| DISEASES 23219 \| FBXO28 \| 3.079 \| DISEASES 2246 \| FGF1 \| 1.158 \| DISEASES 2258 \| FGF13 \| 1.021 \| DISEASES 2254 \| FGF9 \| 2.092 \| DISEASES 27022 \| FOXD3 \| 1.09 \| DISEASES 158326 \| FREM1 \| 4.131 \| DISEASES 2535 \| FZD2 \| 1.418 \| DISEASES 2626 \| GATA4 \| 4.494 \| DISEASES 23464 \| GCAT \| 1.963 \| DISEASES 9573 \| GDF3 \| 1.527 \| DISEASES 2719 \| GPC3 \| 2.04 \| DISEASES 2262 \| GPC5 \| 1.547 \| DISEASES 10082 \| GPC6 \| 1.952 \| DISEASES 2932 \| GSK3B \| 1.74 \| DISEASES 3052 \| HCCS \| 1.145 \| DISEASES 3055 \| HCK \| 1.506 \| DISEASES 55869 \| HDAC8 \| 1.014 \| DISEASES 3142 \| HLX \| 3.363 \| DISEASES 3200 \| HOXA3 \| 2.08 \| DISEASES 3481 \| IGF2 \| 1.674 \| DISEASES 79191 \| IRX3 \| 1.593 \| DISEASES 3745 \| KCNB1 \| 1.171 \| DISEASES 56479 \| KCNQ5 \| 1.727 \| DISEASES 374654 \| KIF7 \| 2.879 \| DISEASES 688 \| KLF5 \| 1.031 \| DISEASES 54900 \| LAX1 \| 1.604 \| DISEASES 3996 \| LLGL1 \| 1.069 \| DISEASES 9227 \| LRAT \| 1.825 \| DISEASES 4212 \| MEIS2 \| 1.85 \| DISEASES 8510 \| MMP23B \| 2.007 \| DISEASES 4773 \| NFATC2 \| 1 \| DISEASES 7080 \| NKX2-1 \| 3.326 \| DISEASES 4842 \| NOS1 \| 1.563 \| DISEASES 344022 \| NOTO \| 1.516 \| DISEASES 64067 \| NPAS3 \| 2.028 \| DISEASES 7025 \| NR2F1 \| 3.281 \| DISEASES 7026 \| NR2F2 \| 4.615 \| DISEASES 9378 \| NRXN1 \| 1.122 \| DISEASES 4923 \| NTSR1 \| 2.24 \| DISEASES 8481 \| OFD1 \| 1.461 \| DISEASES 4983 \| OPHN1 \| 1.795 \| DISEASES 5069 \| PAPPA \| 1.168 \| DISEASES 5077 \| PAX3 \| 4.35 \| DISEASES 22976 \| PAXIP1 \| 2.026 \| DISEASES 27445 \| PCLO \| 1.13 \| DISEASES 8654 \| PDE5A \| 2.239 \| DISEASES 5154 \| PDGFA \| 1.441 \| DISEASES 5228 \| PGF \| 1.213 \| DISEASES 23556 \| PIGN \| 2.325 \| DISEASES 284098 \| PIGW \| 3.62 \| DISEASES 64219 \| PJA1 \| 2.929 \| DISEASES 9373 \| PLAA \| 1.998 \| DISEASES 5406 \| PNLIP \| 1.178 \| DISEASES 64840 \| PORCN \| 2.983 \| DISEASES 79717 \| PPCS \| 1.115 \| DISEASES 23532 \| PRAME \| 1.833 \| DISEASES 5742 \| PTGS1 \| 1.064 \| DISEASES 5867 \| RAB4A \| 1.341 \| DISEASES 135250 \| RAET1E \| 1.441 \| DISEASES 5915 \| RARB \| 2.08 \| DISEASES 5916 \| RARG \| 1.34 \| DISEASES 25780 \| RASGRP3 \| 1.946 \| DISEASES 56963 \| RGMA \| 1.019 \| DISEASES 6091 \| ROBO1 \| 1.022 \| DISEASES 6092 \| ROBO2 \| 1.746 \| DISEASES 6175 \| RPLP0 \| 1.502 \| DISEASES 6218 \| RPS17 \| 1.775 \| DISEASES 6196 \| RPS6KA2 \| 1.025 \| DISEASES 871 \| SERPINH1 \| 3.059 \| DISEASES 55209 \| SETD5 \| 2.529 \| DISEASES 6439 \| SFTPB \| 3.798 \| DISEASES 25942 \| SIN3A \| 1.596 \| DISEASES 9353 \| SLIT2 \| 1.033 \| DISEASES 6586 \| SLIT3 \| 3.614 \| DISEASES 8243 \| SMC1A \| 1.242 \| DISEASES 9126 \| SMC3 \| 1.357 \| DISEASES 200734 \| SPRED2 \| 2.151 \| DISEASES 10252 \| SPRY1 \| 2.025 \| DISEASES 9754 \| STARD8 \| 2.23 \| DISEASES 64220 \| STRA6 \| 4.278 \| DISEASES 6613 \| SUMO2 \| 1.311 \| DISEASES 11276 \| SYNRG \| 2.84 \| DISEASES 129685 \| TAF8 \| 1.737 \| DISEASES 6899 \| TBX1 \| 1.329 \| DISEASES 50945 \| TBX22 \| 1.392 \| DISEASES 6991 \| TCTE3 \| 3.164 \| DISEASES 7010 \| TEK \| 1.557 \| DISEASES 7042 \| TGFB2 \| 1.824 \| DISEASES 84000 \| TMPRSS13 \| 1.799 \| DISEASES 117581 \| TWIST2 \| 1.208 \| DISEASES 7422 \| VEGFA \| 2.119 \| DISEASES 7481 \| WNT11 \| 1.296 \| DISEASES 7477 \| WNT7B \| 3.073 \| DISEASES 7490 \| WT1 \| 2.862 \| DISEASES 7503 \| XIST \| 1.127 \| DISEASES 286451 \| YIPF6 \| 2.664 \| DISEASES 9189 \| ZBED1 \| 1.962 \| DISEASES 23414 \| ZFPM2 \| 4.937 \| DISEASES 7546 \| ZIC2 \| 1.346 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) ZFPM2 \| 8q23 GATA6 \| 18q11.2

Disease ID	223
Disease	congenital diaphragmatic hernia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0000776 \| Diaphragmatic hernia HP:0000776 \| Congenital diaphragmatic hernia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:44) HP:0002089 \| Hypoplastic lungs \| 33 HP:0000822 \| Hypertension \| 15 HP:0002092 \| Pulmonary artery hypertension \| 14 HP:0002878 \| Respiratory failure \| 5 HP:0002032 \| Esophageal atresia \| 5 HP:0010310 \| Chylothorax \| 4 HP:0100632 \| Pulmonary sequestration \| 4 HP:0100790 \| Hernia \| 4 HP:0000078 \| Genital abnormalities \| 3 HP:0002020 \| Heartburn \| 2 HP:0002580 \| Volvulus \| 2 HP:0000846 \| Hypoadrenalism \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0001627 \| Congenital heart defects \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0030769 \| Exencephaly \| 1 HP:0002093 \| progressive respiratory failure \| 1 HP:0001660 \| Common arterial trunk \| 1 HP:0000086 \| Ectopic kidney \| 1 HP:0011297 \| Abnormality of digit \| 1 HP:0010778 \| Tracheomegaly \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0006528 \| Chronic lung disease \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0000775 \| Diaphragmatic defect \| 1 HP:0001561 \| Hydramnios \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0000969 \| Dropsy \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0010442 \| Polydactyly \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0001562 \| Oligohydramnios \| 1 HP:0001622 \| Premature delivery \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0010962 \| Extralobar sequestration \| 1 HP:0001543 \| Gastroschisis \| 1 HP:0002414 \| Spina bifida \| 1 HP:0011681 \| Subarterial ventricular septal defect \| 1 HP:0000851 \| Congenital hypothyroidism \| 1 HP:0030722 \| Ectopic liver \| 1

Disease ID	223
Disease	congenital diaphragmatic hernia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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:0000776	Congenital diaphragmatic hernia	MP:0010146	umbilical hernia	an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000776	Congenital diaphragmatic hernia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death

Disease ID	223
Disease	congenital diaphragmatic hernia
Case	(Waiting for update.)

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