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encyclopedia of Rare Disease Annotation for Precision Medicine

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	necrotizing enterocolitis

Disease ID	662
Disease	necrotizing enterocolitis
Definition	ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.
Synonym	enterocolitis necrotizing enterocolitis, necrotizing enterocolitis, necrotizing [disease/finding]
Orphanet	ORPHANET:391673
DOID	DOID:8677
UMLS	C0520459
MeSH	D020345
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0018799 \| heart disease \| 5 C0152021 \| congenital heart disease \| 5 C0021845 \| intestinal perforation \| 4 C0023529 \| periventricular leukomalacia \| 4 C0006287 \| bronchopulmonary dysplasia \| 4 C0024115 \| lung disease \| 3 C0022116 \| ischemia \| 2 C0021845 \| bowel perforation \| 2 C0001623 \| adrenal insufficiency \| 1 C0023895 \| liver disease \| 1 C0040034 \| thrombocytopenia \| 1 C0035309 \| retinopathy \| 1 C0021843 \| intestinal obstruction \| 1 C0008370 \| cholestasis \| 1 C0018802 \| congestive heart failure \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0018801 \| heart failure \| 1 C0002871 \| anemia \| 1 C0042769 \| virus infection \| 1 C0042961 \| volvulus \| 1 C1565489 \| renal insufficiency \| 1 C0020456 \| hyperglycaemia \| 1 C0238124 \| necrotizing fasciitis \| 1 C0021845 \| intestinal perforations \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) 4942 \| OAT \| CTD_human 4846 \| NOS3 \| CTD_human 4843 \| NOS2 \| CTD_human 7099 \| TLR4 \| CTD_human 3957 \| LGALS2 \| CTD_human 6648 \| SOD2 \| CTD_human 10327 \| AKR1A1 \| CTD_human 3313 \| HSPA9 \| CTD_human 2023 \| ENO1 \| CTD_human 1839 \| HBEGF \| CTD_human 6652 \| SORD \| CTD_human 11315 \| PARK7 \| CTD_human 51084 \| CRYL1 \| CTD_human 217 \| ALDH2 \| CTD_human 4057 \| LTF \| CTD_human 34 \| ACADM \| CTD_human 333929 \| SNAI3 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:21) 7124 \| TNF \| CIPHER 929 \| CD14 \| CIPHER 1373 \| CPS1 \| CIPHER 3565 \| IL4 \| CIPHER 7099 \| TLR4 \| CIPHER;CTD_human 4846 \| NOS3 \| CTD_human 4843 \| NOS2 \| CTD_human 3957 \| LGALS2 \| CTD_human 10327 \| AKR1A1 \| CTD_human 6652 \| SORD \| CTD_human 11315 \| PARK7 \| CTD_human 51084 \| CRYL1 \| CTD_human 4057 \| LTF \| CTD_human 34 \| ACADM \| CTD_human 2023 \| ENO1 \| CTD_human 333929 \| SNAI3 \| CTD_human 4942 \| OAT \| CTD_human 217 \| ALDH2 \| CTD_human 3313 \| HSPA9 \| CTD_human 1839 \| HBEGF \| CTD_human 6648 \| SOD2 \| CTD_human
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	662
Disease	necrotizing enterocolitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0030746 \| Intraventricular hemorrhage \| 6 HP:0006970 \| Periventricular leukomalacia \| 5 HP:0001518 \| Small for gestational age \| 3 HP:0100806 \| Sepsis \| 2 HP:0006528 \| Chronic lung disease \| 2 HP:0002580 \| Volvulus \| 1 HP:0100758 \| Gangrene \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0012390 \| Anal fissure \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0001903 \| Anemia \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0001396 \| Cholestasis \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0001873 \| Low platelet count \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0002566 \| Intestinal malrotation \| 1

Disease ID	662
Disease	necrotizing enterocolitis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:17) C2707258 \| infections C2364133 \| infection C2004435 \| intestinal ischemia C1963165 \| malabsorption C1836022 \| lipomyelomeningocele C1704212 \| embolism C1609502 \| portal venous gas C1090821 \| sepsis C0422833 \| ent symptoms C0268070 \| copper deficiency C0267465 \| intestinal stricture C0221030 \| hyperviscosity syndrome C0151664 \| gastrointestinal perforation C0151659 \| intestinal gangrene C0021933 \| intussusception C0021845 \| bowel perforation C0004610 \| bacteremia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0021845 \| bowel perforation \| 2 C0036690 \| sepsis \| 2 C0009450 \| infection \| 1 C0021311 \| infections \| 1 C0151664 \| gastrointestinal perforation \| 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
rs1047891	17597649	1373	CPS1	umls:C0520459	BeFree	These data suggest that the CPS1 T1405N polymorphism may be associated with the risk of NEC in preterm infants.	0.005634266	2007	CPS1	2	210675783	C	A
rs121912594	17597649	1373	CPS1	umls:C0520459	BeFree	These data suggest that the CPS1 T1405N polymorphism may be associated with the risk of NEC in preterm infants.	0.005634266	2007	CPS1	2	210675762	A	C

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.)

Disease ID	662
Disease	necrotizing enterocolitis
Case	(Waiting for update.)

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