PedAM

Pediatric Disease Annotations & Medicines


	congenital diaphragmatic hernia

Disease ID	92
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 \| 15 C0020542 \| pulmonary hypertension \| 14 C1145670 \| respiratory failure \| 5 C0014850 \| esophageal atresia \| 5 C0001623 \| adrenal insufficiency \| 2 C0042961 \| volvulus \| 2 C1565489 \| renal insufficiency \| 2 C0006287 \| bronchopulmonary dysplasia \| 1 C0035229 \| respiratory insufficiency \| 1 C0019284 \| diaphragmatic hernia \| 1 C0024115 \| lung disease \| 1 C0018799 \| heart disease \| 1 C0265706 \| gastroschisis \| 1 C0017168 \| esophageal reflux \| 1 C0019291 \| hiatal hernia \| 1 C0017168 \| esophageal reflux disease \| 1 C0079924 \| oligohydramnios \| 1 C0022354 \| obstructive jaundice \| 1 C0020224 \| polyhydramnios \| 1 C0010308 \| congenital hypothyroidism \| 1 C0014850 \| oesophageal atresia \| 1 C0018784 \| sensorineural hearing loss \| 1 C0013080 \| trisomy 21 \| 1 C0220730 \| fryns syndrome \| 1 C0017168 \| gastroesophageal reflux \| 1 C0020676 \| hypothyroidism \| 1 C0152021 \| congenital heart disease \| 1 C0010674 \| cystic fibrosis \| 1 C0080178 \| spina bifida \| 1 C0018818 \| ventricular septal defect \| 1 C0007177 \| cardiac tamponade \| 1 C0028860 \| lowe syndrome \| 1 C0017168 \| gastroesophageal reflux disease \| 1 C0152095 \| trisomy 13 \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0017168 \| oesophageal reflux \| 1 C0795864 \| smith-magenis syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) ZFPM2 \| 23414 \| ORPHANET;GHR INSR \| 3643 \| CTD_human WT1 \| 7490 \| CTD_human IGF2R \| 3482 \| CTD_human MYOD1 \| 4654 \| CTD_human IGF1R \| 3480 \| CTD_human GATA6 \| 2627 \| ORPHANET GATA4 \| 2626 \| CTD_human;GHR CTGF \| 1490 \| CTD_human FREM1 \| 158326 \| CTD_human DIH1 \| 1732 \| CTD_human;OMIM FGFRL1 \| 53834 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:278) 56603 \| CYP26B1 \| DISEASES 11285 \| B4GALT7 \| DISEASES 4804 \| NGFR \| DISEASES 1947 \| EFNB1 \| DISEASES 10857 \| PGRMC1 \| DISEASES 7076 \| TIMP1 \| DISEASES 4313 \| MMP2 \| DISEASES 2222 \| FDFT1 \| DISEASES 7040 \| TGFB1 \| DISEASES 3199 \| HOXA2 \| DISEASES 3202 \| HOXA5 \| DISEASES 1592 \| CYP26A1 \| DISEASES 6871 \| TADA2A \| DISEASES 26574 \| AATF \| DISEASES 9326 \| ZNHIT3 \| DISEASES 6928 \| HNF1B \| DISEASES 4617 \| MYF5 \| DISEASES 2251 \| FGF6 \| DISEASES 4633 \| MYL2 \| DISEASES 4015 \| LOX \| DISEASES 5917 \| RARS \| DISEASES 5948 \| RBP2 \| DISEASES 5947 \| RBP1 \| DISEASES 3215 \| HOXB5 \| DISEASES 5396 \| PRRX1 \| DISEASES 6909 \| TBX2 \| DISEASES 9496 \| TBX4 \| DISEASES 4656 \| MYOG \| DISEASES 7291 \| TWIST1 \| DISEASES 652 \| BMP4 \| DISEASES 27352 \| SGSM3 \| DISEASES 3232 \| HOXD3 \| DISEASES 8854 \| ALDH1A2 \| DISEASES 112399 \| EGLN3 \| DISEASES 2006 \| ELN \| DISEASES 9997 \| SCO2 \| DISEASES 3975 \| LHX1 \| DISEASES 182 \| JAG1 \| DISEASES 4622 \| MYH4 \| DISEASES 2922 \| GRP \| DISEASES 2295 \| FOXF2 \| DISEASES 23314 \| SATB2 \| DISEASES 64131 \| XYLT1 \| DISEASES 1182 \| CLCN3 \| DISEASES 8120 \| AP3B2 \| DISEASES 3340 \| NDST1 \| DISEASES 8482 \| SEMA7A \| DISEASES 4087 \| SMAD2 \| DISEASES 6521 \| SLC4A1 \| DISEASES 2294 \| FOXF1 \| DISEASES 6558 \| SLC12A2 \| DISEASES 7077 \| TIMP2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 9132 \| KCNQ4 \| DISEASES 50507 \| NOX4 \| DISEASES 4036 \| LRP2 \| DISEASES 3791 \| KDR \| DISEASES 2255 \| FGF10 \| DISEASES 53834 \| FGFRL1 \| DISEASES 80144 \| FRAS1 \| DISEASES 1004 \| CDH6 \| DISEASES 7982 \| ST7 \| DISEASES 7472 \| WNT2 \| DISEASES 26229 \| B3GAT3 \| DISEASES 6585 \| SLIT1 \| DISEASES 7008 \| TEF \| DISEASES 55117 \| SLC6A15 \| DISEASES 26277 \| TINF2 \| DISEASES 2252 \| FGF7 \| DISEASES 3480 \| IGF1R \| DISEASES 91947 \| ARRDC4 \| DISEASES 11056 \| DDX52 \| DISEASES 2627 \| GATA6 \| DISEASES 10262 \| SF3B4 \| DISEASES 3930 \| LBR \| DISEASES 23671 \| TMEFF2 \| DISEASES 57408 \| LRTM1 \| DISEASES 1016 \| CDH18 \| DISEASES 8817 \| FGF18 \| DISEASES 5047 \| PAEP \| DISEASES 196743 \| PAOX \| DISEASES 7356 \| SCGB1A1 \| DISEASES 10398 \| MYL9 \| DISEASES 341640 \| FREM2 \| DISEASES 2321 \| FLT1 \| DISEASES 25836 \| NIPBL \| DISEASES 2697 \| GJA1 \| DISEASES 3206 \| HOXA10 \| DISEASES 84976 \| DISP1 \| DISEASES 252969 \| NEIL2 \| DISEASES 7381 \| UQCRB \| DISEASES 4838 \| NODAL \| DISEASES 1013 \| CDH15 \| DISEASES 4634 \| MYL3 \| DISEASES 1627 \| DBN1 \| DISEASES 362 \| AQP5 \| DISEASES 5937 \| RBMS1 \| DISEASES 11167 \| FSTL1 \| DISEASES 9265 \| CYTH3 \| DISEASES 819 \| CAMLG \| DISEASES 6469 \| SHH \| DISEASES 5885 \| RAD21 \| DISEASES 90390 \| MED30 \| DISEASES 4846 \| NOS3 \| DISEASES 115825 \| WDFY2 \| DISEASES 9317 \| PTER \| DISEASES 161742 \| SPRED1 \| DISEASES 8642 \| DCHS1 \| DISEASES 54495 \| TMX3 \| DISEASES 21 \| ABCA3 \| DISEASES 83595 \| SOX7 \| DISEASES 3479 \| IGF1 \| DISEASES 54538 \| ROBO4 \| DISEASES 79192 \| IRX1 \| DISEASES 8862 \| APLN \| DISEASES 9455 \| HOMER2 \| DISEASES 10655 \| DMRT2 \| DISEASES 3221 \| HOXC4 \| DISEASES 3777 \| KCNK3 \| DISEASES 23627 \| PRND \| DISEASES 54498 \| SMOX \| DISEASES 79893 \| GGNBP2 \| DISEASES 5002 \| SLC22A18 \| DISEASES 3213 \| HOXB3 \| DISEASES 30008 \| EFEMP2 \| DISEASES 26512 \| INTS6 \| DISEASES 6670 \| SP3 \| DISEASES 92126 \| DSEL \| DISEASES 81839 \| VANGL1 \| DISEASES 8658 \| TNKS \| DISEASES 8425 \| LTBP4 \| DISEASES 54968 \| TMEM70 \| DISEASES 341208 \| HEPHL1 \| DISEASES 3737 \| KCNA2 \| DISEASES 1909 \| EDNRA \| DISEASES 3170 \| FOXA2 \| DISEASES 6440 \| SFTPC \| DISEASES 79839 \| CCDC102B \| DISEASES 8851 \| CDK5R1 \| DISEASES 8490 \| RGS5 \| DISEASES 137814 \| NKX2-6 \| DISEASES 3996 \| LLGL1 \| DISEASES 64840 \| PORCN \| DISEASES 8243 \| SMC1A \| DISEASES 2535 \| FZD2 \| DISEASES 2932 \| GSK3B \| DISEASES 3200 \| HOXA3 \| DISEASES 7481 \| WNT11 \| DISEASES 2200 \| FBN1 \| DISEASES 7025 \| NR2F1 \| DISEASES 3052 \| HCCS \| DISEASES 5069 \| PAPPA \| DISEASES 7490 \| WT1 \| DISEASES 79191 \| IRX3 \| DISEASES 9573 \| GDF3 \| DISEASES 6899 \| TBX1 \| DISEASES 220 \| ALDH1A3 \| DISEASES 5915 \| RARB \| DISEASES 284098 \| PIGW \| DISEASES 27445 \| PCLO \| DISEASES 2626 \| GATA4 \| DISEASES 9227 \| LRAT \| DISEASES 4842 \| NOS1 \| DISEASES 2246 \| FGF1 \| DISEASES 6175 \| RPLP0 \| DISEASES 3266 \| ERAS \| DISEASES 7477 \| WNT7B \| DISEASES 84335 \| AKT1S1 \| DISEASES 2138 \| EYA1 \| DISEASES 10620 \| ARID3B \| DISEASES 11276 \| SYNRG \| DISEASES 10252 \| SPRY1 \| DISEASES 8481 \| OFD1 \| DISEASES 285489 \| DOK7 \| DISEASES 10516 \| FBLN5 \| DISEASES 56479 \| KCNQ5 \| DISEASES 6218 \| RPS17 \| DISEASES 5154 \| PDGFA \| DISEASES 7080 \| NKX2-1 \| DISEASES 8654 \| PDE5A \| DISEASES 4983 \| OPHN1 \| DISEASES 8510 \| MMP23B \| DISEASES 64067 \| NPAS3 \| DISEASES 200734 \| SPRED2 \| DISEASES 1822 \| ATN1 \| DISEASES 135250 \| RAET1E \| DISEASES 1297 \| COL9A1 \| DISEASES 60 \| ACTB \| DISEASES 23556 \| PIGN \| DISEASES 871 \| SERPINH1 \| DISEASES 1999 \| ELF3 \| DISEASES 25942 \| SIN3A \| DISEASES 1284 \| COL4A2 \| DISEASES 5742 \| PTGS1 \| DISEASES 9126 \| SMC3 \| DISEASES 64219 \| PJA1 \| DISEASES 779 \| CACNA1S \| DISEASES 183 \| AGT \| DISEASES 5867 \| RAB4A \| DISEASES 6991 \| TCTE3 \| DISEASES 23219 \| FBXO28 \| DISEASES 3142 \| HLX \| DISEASES 7042 \| TGFB2 \| DISEASES 5406 \| PNLIP \| DISEASES 4923 \| NTSR1 \| DISEASES 2258 \| FGF13 \| DISEASES 27022 \| FOXD3 \| DISEASES 3745 \| KCNB1 \| DISEASES 186 \| AGTR2 \| DISEASES 7422 \| VEGFA \| DISEASES 79717 \| PPCS \| DISEASES 129685 \| TAF8 \| DISEASES 50945 \| TBX22 \| DISEASES 55869 \| HDAC8 \| DISEASES 84890 \| ADO \| DISEASES 659 \| BMPR2 \| DISEASES 9754 \| STARD8 \| DISEASES 54829 \| ASPN \| DISEASES 3055 \| HCK \| DISEASES 7546 \| ZIC2 \| DISEASES 10082 \| GPC6 \| DISEASES 2262 \| GPC5 \| DISEASES 1910 \| EDNRB \| DISEASES 688 \| KLF5 \| DISEASES 1855 \| DVL1 \| DISEASES 126792 \| B3GALT6 \| DISEASES 1906 \| EDN1 \| DISEASES 7010 \| TEK \| DISEASES 1280 \| COL2A1 \| DISEASES 158326 \| FREM1 \| DISEASES 9189 \| ZBED1 \| DISEASES 23464 \| GCAT \| DISEASES 613209 \| DEFB135 \| DISEASES 1010 \| CDH12 \| DISEASES 2254 \| FGF9 \| DISEASES 94 \| ACVRL1 \| DISEASES 22900 \| CARD8 \| DISEASES 5077 \| PAX3 \| DISEASES 6439 \| SFTPB \| DISEASES 7026 \| NR2F2 \| DISEASES 2719 \| GPC3 \| DISEASES 11072 \| DUSP14 \| DISEASES 374654 \| KIF7 \| DISEASES 5916 \| RARG \| DISEASES 594855 \| CPLX3 \| DISEASES 174 \| AFP \| DISEASES 4773 \| NFATC2 \| DISEASES 9373 \| PLAA \| DISEASES 344022 \| NOTO \| DISEASES 23532 \| PRAME \| DISEASES 55209 \| SETD5 \| DISEASES 22976 \| PAXIP1 \| DISEASES 23414 \| ZFPM2 \| DISEASES 25780 \| RASGRP3 \| DISEASES 9378 \| NRXN1 \| DISEASES 501 \| ALDH7A1 \| DISEASES 3481 \| IGF2 \| DISEASES 117581 \| TWIST2 \| DISEASES 6613 \| SUMO2 \| DISEASES 54900 \| LAX1 \| DISEASES 34 \| ACADM \| DISEASES 6092 \| ROBO2 \| DISEASES 286451 \| YIPF6 \| DISEASES 6091 \| ROBO1 \| DISEASES 9353 \| SLIT2 \| DISEASES 6196 \| RPS6KA2 \| DISEASES 6586 \| SLIT3 \| DISEASES 23741 \| EID1 \| DISEASES 84000 \| TMPRSS13 \| DISEASES 613211 \| DEFB134 \| DISEASES 5228 \| PGF \| DISEASES 56963 \| RGMA \| DISEASES 4212 \| MEIS2 \| DISEASES 64220 \| STRA6 \| DISEASES 64506 \| CPEB1 \| DISEASES 1506 \| CTRL \| DISEASES 1006 \| CDH8 \| DISEASES 7503 \| XIST \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) ZFPM2 \| 8q23 GATA6 \| 18q11.2

Disease ID	92
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:45) HP:0002089 \| Hypoplastic lungs \| 33 HP:0000822 \| Hypertension \| 15 HP:0002092 \| Pulmonary artery hypertension \| 14 HP:0002032 \| Esophageal atresia \| 5 HP:0002878 \| Respiratory failure \| 5 HP:0100632 \| Pulmonary sequestration \| 4 HP:0100790 \| Hernia \| 4 HP:0010310 \| Chylothorax \| 4 HP:0000078 \| Genital abnormalities \| 3 HP:0000846 \| Hypoadrenalism \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0002020 \| Heartburn \| 2 HP:0002580 \| Volvulus \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0006528 \| Chronic lung disease \| 1 HP:0001562 \| Oligohydramnios \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0010778 \| Tracheomegaly \| 1 HP:0002414 \| Spina bifida \| 1 HP:0011297 \| Abnormality of digit \| 1 HP:0030769 \| Exencephaly \| 1 HP:0010962 \| Extralobar sequestration \| 1 HP:0001543 \| Gastroschisis \| 1 HP:0010442 \| Polydactyly \| 1 HP:0000775 \| Diaphragmatic defect \| 1 HP:0001561 \| Hydramnios \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002093 \| progressive respiratory failure \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0030722 \| Ectopic liver \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0000851 \| Congenital hypothyroidism \| 1 HP:0011681 \| Subarterial ventricular septal defect \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0001660 \| Common arterial trunk \| 1 HP:0000086 \| Ectopic kidney \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0001622 \| Premature delivery \| 1 HP:0000969 \| Dropsy \| 1

Disease ID	92
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.)

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:0003924	diaphragmatic hernia;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000776	Congenital diaphragmatic hernia	MP:0004185	abnormal adipocyte glucose uptake;

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0235833	imatinib mesylate	D000068877	-	hernias, diaphragmatic, congenital	MESH:D065630	therapeutic	22447953
C0235833	tretinoin	D014212	302-79-4	hernias, diaphragmatic, congenital	MESH:D065630	therapeutic	21258935

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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