PedAM

Pediatric Disease Annotations & Medicines


	intestinal atresia

Disease ID	1541
Disease	intestinal atresia
Definition	Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)
Synonym	apple peel intestinal atresia apple peel syndrome apple peel syndromes apple-peel intestinal atresia apple-peel intestinal atresias atresia intestine atresia of intestine nos atresia of the intestine atresia, apple-peel intestinal atresia, congenital intestinal atresia, intestinal atresias, apple-peel intestinal atresias, congenital intestinal congenital intestinal atresia congenital intestinal atresias intestinal atresia [disease/finding] intestinal atresia, apple-peel intestinal atresia, congenital intestinal atresias, apple-peel intestinal atresias, congenital intestine atresia
OMIM	OMIM:243600
DOID	DOID:10486
UMLS	C0021828
MeSH	D007409
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0265706 \| gastroschisis \| 7 C0031154 \| peritonitis \| 3 C0042961 \| volvulus \| 2 C0022679 \| cystic kidney \| 1 C0022116 \| ischemia \| 1 C0085110 \| severe combined immunodefic \| 1 C0085110 \| severe combined immunodeficiency \| 1 C0011847 \| diabetes \| 1 C0085411 \| angiodysplasia \| 1 C0220744 \| multiple intestinal atresia \| 1 C0008340 \| choledochal cyst \| 1 C0021843 \| intestinal obstruction \| 1 C0034194 \| pyloric stenosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:48) 1666 \| DECR1 \| DISEASES 3199 \| HOXA2 \| DISEASES 2784 \| GNB3 \| DISEASES 7276 \| TTR \| DISEASES 4922 \| NTS \| DISEASES 324 \| APC \| DISEASES 4316 \| MMP7 \| DISEASES 8482 \| SEMA7A \| DISEASES 3690 \| ITGB3 \| DISEASES 2294 \| FOXF1 \| DISEASES 6855 \| SYP \| DISEASES 2255 \| FGF10 \| DISEASES 118 \| ADD1 \| DISEASES 7008 \| TEF \| DISEASES 1583 \| CYP11A1 \| DISEASES 133 \| ADM \| DISEASES 3815 \| KIT \| DISEASES 213 \| ALB \| DISEASES 3673 \| ITGA2 \| DISEASES 6469 \| SHH \| DISEASES 56547 \| MMP26 \| DISEASES 140738 \| TMEM37 \| DISEASES 5308 \| PITX2 \| DISEASES 154 \| ADRB2 \| DISEASES 2244 \| FGB \| DISEASES 794 \| CALB2 \| DISEASES 54715 \| RBFOX1 \| DISEASES 4327 \| MMP19 \| DISEASES 6863 \| TAC1 \| DISEASES 222546 \| RFX6 \| DISEASES 1103 \| CHAT \| DISEASES 10620 \| ARID3B \| DISEASES 140885 \| SIRPA \| DISEASES 120 \| ADD3 \| DISEASES 10447 \| FAM3C \| DISEASES 6337 \| SCNN1A \| DISEASES 25942 \| SIN3A \| DISEASES 54106 \| TLR9 \| DISEASES 1063 \| CENPF \| DISEASES 4878 \| NPPA \| DISEASES 4524 \| MTHFR \| DISEASES 650 \| BMP2 \| DISEASES 5080 \| PAX6 \| DISEASES 2296 \| FOXC1 \| DISEASES 594855 \| CPLX3 \| DISEASES 79827 \| CLMP \| DISEASES 2668 \| GDNF \| DISEASES 64220 \| STRA6 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1541
Disease	intestinal atresia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001543 \| Gastroschisis \| 5 HP:0002721 \| Immunodeficiency \| 4 HP:0030717 \| Meconium peritonitis \| 2 HP:0005387 \| Combined immunodeficiency \| 2 HP:0002566 \| Intestinal malrotation \| 2 HP:0002586 \| Peritonitis \| 2 HP:0002021 \| Pyloric stenosis \| 1 HP:0100790 \| Hernia \| 1 HP:0001748 \| Polysplenia \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0004430 \| Severe combined immunodeficiency \| 1 HP:0100890 \| Cyst of the ductus choledochus \| 1 HP:0002580 \| Volvulus \| 1 HP:0100867 \| Duodenal stenosis/atresia \| 1

Disease ID	1541
Disease	intestinal atresia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0265706 \| gastroschisis \| 5 C0266159 \| pyloric atresia \| 1

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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0021828	thalidomide	D013792	50-35-1	intestinal atresia	MESH:D007409	marker/mechanism	4631040

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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