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	short bowel syndrome

Disease ID	951
Disease	short bowel syndrome
Definition	A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Synonym	acquired short bowel syndrome acquired short bowel syndrome (disorder) bowel short syndrome bowel syndrome, short bowel syndromes, short massive bowel resection syndrome post-resection malabsorption postresectional malabsorption syndrome sbs - short bowel syndrome sgs - short gut syndrome short bowel syndrome (disorder) short bowel syndrome [disease/finding] short bowel syndromes short gut syndrome short intestine syndrome short-bowel syndrome short-gut syndrome syndrome intestine short syndrome, short bowel syndromes, short bowel
Orphanet	ORPHANET:104008
DOID	DOID:10605
UMLS	C0036992
MeSH	D012778
SNOMED-CT	SNOMEDCT_US_2016_09_01:26629001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0024523 \| malabsorption \| 3 C0162429 \| malnutrition \| 3 C0011991 \| diarrhea \| 3 C0023895 \| liver disease \| 2 C0008370 \| cholestasis \| 2 C0221036 \| acrodermatitis enteropathica \| 1 C0026691 \| kawasaki disease \| 1 C0021831 \| bowel disease \| 1 C0010346 \| crohn's disease \| 1 C0005122 \| beriberi \| 1 C0038220 \| status epilepticus \| 1 C0042961 \| volvulus \| 1 C0028754 \| obesity \| 1 C0265706 \| gastroschisis \| 1 C0001125 \| lactic acidosis \| 1 C0021390 \| inflammatory bowel disease \| 1 C0456909 \| blindness \| 1 C0024523 \| malabsorption syndrome \| 1 C0024523 \| malabsorption syndromes \| 1 C0023895 \| hepatopathy \| 1 C0520459 \| necrotizing enterocolitis \| 1 C0267557 \| secretory diarrhea \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 196527 \| ANO6 \| 1.254 \| DISEASES 7809 \| BSND \| 1.374 \| DISEASES 885 \| CCK \| 2.428 \| DISEASES 913 \| CD1E \| 2.461 \| DISEASES 23436 \| CELA3B \| 1.708 \| DISEASES 1188 \| CLCNKB \| 1.123 \| DISEASES 79827 \| CLMP \| 3.708 \| DISEASES 1499 \| CTNNB1 \| 1.221 \| DISEASES 1803 \| DPP4 \| 2.844 \| DISEASES 2172 \| FABP6 \| 1.815 \| DISEASES 2246 \| FGF1 \| 1.316 \| DISEASES 2254 \| FGF9 \| 1.248 \| DISEASES 2520 \| GAST \| 3.652 \| DISEASES 2641 \| GCG \| 5.781 \| DISEASES 2673 \| GFPT1 \| 2.588 \| DISEASES 728441 \| GGT2 \| 1.215 \| DISEASES 51738 \| GHRL \| 2.683 \| DISEASES 2695 \| GIP \| 1.359 \| DISEASES 2740 \| GLP1R \| 1.503 \| DISEASES 151306 \| GPBAR1 \| 1.777 \| DISEASES 160897 \| GPR180 \| 1.58 \| DISEASES 3486 \| IGFBP3 \| 1.97 \| DISEASES 132660 \| LIN54 \| 2.56 \| DISEASES 9926 \| LPGAT1 \| 3.554 \| DISEASES 8972 \| MGAM \| 2.322 \| DISEASES 9971 \| NR1H4 \| 1.62 \| DISEASES 9124 \| PDLIM1 \| 1.002 \| DISEASES 5590 \| PRKCZ \| 1.18 \| DISEASES 5697 \| PYY \| 3.678 \| DISEASES 284654 \| RSPO1 \| 1.419 \| DISEASES 795 \| S100G \| 1.635 \| DISEASES 55511 \| SAGE1 \| 1.789 \| DISEASES 6564 \| SLC15A1 \| 3.328 \| DISEASES 6514 \| SLC2A2 \| 2.657 \| DISEASES 6518 \| SLC2A5 \| 3.488 \| DISEASES 54716 \| SLC6A20 \| 2.23 \| DISEASES 27044 \| SND1 \| 1.38 \| DISEASES 55576 \| STAB2 \| 1.25 \| DISEASES 51347 \| TAOK3 \| 1.393 \| DISEASES 7018 \| TF \| 1.756 \| DISEASES 8771 \| TNFRSF6B \| 1.034 \| DISEASES
Locus	(Waiting for update.)

Disease ID	951
Disease	short bowel syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0002014 \| Diarrhea \| 4 HP:0004395 \| Malnutrition \| 3 HP:0002024 \| Intestinal malabsorption \| 3 HP:0001941 \| acidemia \| 2 HP:0002900 \| Hypokalemia \| 2 HP:0001396 \| Cholestasis \| 2 HP:0002917 \| Low blood magnesium levels \| 2 HP:0001298 \| Encephalopathy \| 2 HP:0005235 \| Jejunal atresia \| 1 HP:0100806 \| Sepsis \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0001543 \| Gastroschisis \| 1 HP:0000618 \| Blindness \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0005208 \| Secretory diarrhea \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0001513 \| Obesity \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0001824 \| Weight loss \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0002580 \| Volvulus \| 1 HP:0001892 \| Bleeding diathesis \| 1 HP:0002282 \| Heterotopias \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0001945 \| Fever \| 1 HP:0100790 \| Hernia \| 1 HP:0000662 \| Poor night vision \| 1

Disease ID	951
Disease	short bowel syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:37) C2186532 \| liver disease C1963165 \| malabsorption C1963154 \| renal failure C1963101 \| encephalopathy C1963091 \| diarrhea C1835171 \| renal magnesium wasting C1510471 \| vitamin deficiency C1373218 \| immunosuppression C1368829 \| hyperalimentation C1335307 \| pancreatic lymphoma C1135207 \| ataxia C1090821 \| sepsis C0751837 \| gait ataxia C0750384 \| warfarin resistance C0553730 \| chondrocalcinosis C0517555 \| venous thrombosis C0451641 \| urolithiasis C0376293 \| stigmata C0341439 \| chronic liver disease C0268680 \| biotin deficiency C0268668 \| shoshin beriberi C0267055 \| erosive esophagitis C0233401 \| psychiatric symptoms C0162429 \| malnutrition C0151723 \| hypomagnesemia C0085605 \| liver failure C0042875 \| vitamin e deficiency C0042847 \| vitamin b12 deficiency C0036690 \| septicemia C0030920 \| peptic ulcer disease C0027709 \| nephrocalcinosis C0023890 \| liver cirrhosis C0020505 \| hyperphagia C0020500 \| hyperoxaluria C0017689 \| glucagonoma C0007570 \| celiac disease C0001125 \| lactic acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0011991 \| diarrhea \| 4 C0024523 \| malabsorption \| 3 C0162429 \| malnutrition \| 3 C0085584 \| encephalopathy \| 2 C0023895 \| liver disease \| 2 C0151723 \| hypomagnesemia \| 2 C0268668 \| shoshin beriberi \| 1 C0036690 \| sepsis \| 1 C0001125 \| lactic acidosis \| 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
rs2066844	20959815	64127	NOD2	umls:C0036992	BeFree	NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome.	0.002909916	2011	NOD2	16	50712015	C	T
rs2066844	20959815	64127	NOD2	umls:C0036992	GAD	[NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome.]	0.002909916	2011	NOD2	16	50712015	C	T

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	951
Disease	short bowel syndrome
Case	(Waiting for update.)

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