PedAM

Pediatric Disease Annotations & Medicines


	short bowel syndrome

Disease ID	439
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:23) C0011991 \| diarrhea \| 4 C0023895 \| liver disease \| 3 C0024523 \| malabsorption \| 3 C0162429 \| malnutrition \| 3 C0008370 \| cholestasis \| 2 C0456909 \| blindness \| 1 C0520459 \| necrotizing enterocolitis \| 1 C0021831 \| bowel disease \| 1 C0221036 \| acrodermatitis enteropathica \| 1 C0026691 \| kawasaki disease \| 1 C0010346 \| crohn's disease \| 1 C0038220 \| status epilepticus \| 1 C0011991 \| diarrhoea \| 1 C0024523 \| malabsorption syndromes \| 1 C0001125 \| lactic acidosis \| 1 C0028754 \| obesity \| 1 C0005122 \| beriberi \| 1 C0021390 \| inflammatory bowel disease \| 1 C0042961 \| volvulus \| 1 C0023895 \| hepatopathy \| 1 C0265706 \| gastroschisis \| 1 C0267557 \| secretory diarrhea \| 1 C0024523 \| malabsorption syndrome \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:105) 3475 \| IFRD1 \| DISEASES 6343 \| SCT \| DISEASES 1738 \| DLD \| DISEASES 49 \| ACR \| DISEASES 1113 \| CHGA \| DISEASES 479 \| ATP12A \| DISEASES 10562 \| OLFM4 \| DISEASES 973 \| CD79A \| DISEASES 3082 \| HGF \| DISEASES 2690 \| GHR \| DISEASES 1839 \| HBEGF \| DISEASES 6549 \| SLC9A2 \| DISEASES 4953 \| ODC1 \| DISEASES 7276 \| TTR \| DISEASES 8997 \| KALRN \| DISEASES 583 \| BBS2 \| DISEASES 2678 \| GGT1 \| DISEASES 3630 \| INS \| DISEASES 27112 \| FAM155B \| DISEASES 9945 \| GFPT2 \| DISEASES 10955 \| SERINC3 \| DISEASES 9201 \| DCLK1 \| DISEASES 4922 \| NTS \| DISEASES 2922 \| GRP \| DISEASES 7274 \| TTPA \| DISEASES 8836 \| GGH \| DISEASES 9340 \| GLP2R \| DISEASES 27130 \| INVS \| DISEASES 495 \| ATP4A \| DISEASES 3249 \| HPN \| DISEASES 23476 \| BRD4 \| DISEASES 3938 \| LCT \| DISEASES 2247 \| FGF2 \| DISEASES 3589 \| IL11 \| DISEASES 2255 \| FGF10 \| DISEASES 1950 \| EGF \| DISEASES 6523 \| SLC5A1 \| DISEASES 8549 \| LGR5 \| DISEASES 2252 \| FGF7 \| DISEASES 2169 \| FABP2 \| DISEASES 4249 \| MGAT5 \| DISEASES 5741 \| PTH \| DISEASES 651 \| BMP3 \| DISEASES 118611 \| C10orf90 \| DISEASES 6750 \| SST \| DISEASES 4681 \| NBL1 \| DISEASES 8209 \| C21orf33 \| DISEASES 1990 \| CELA1 \| DISEASES 72 \| ACTG2 \| DISEASES 11167 \| FSTL1 \| DISEASES 213 \| ALB \| DISEASES 89927 \| C16orf45 \| DISEASES 124935 \| SLC43A2 \| DISEASES 55106 \| SLFN12 \| DISEASES 3479 \| IGF1 \| DISEASES 166614 \| DCLK2 \| DISEASES 29 \| ABR \| DISEASES 25928 \| SOSTDC1 \| DISEASES 649 \| BMP1 \| DISEASES 9451 \| EIF2AK3 \| DISEASES 24146 \| CLDN15 \| DISEASES 23209 \| MLC1 \| DISEASES 137735 \| ABRA \| DISEASES 3952 \| LEP \| DISEASES 55511 \| SAGE1 \| DISEASES 6514 \| SLC2A2 \| DISEASES 2520 \| GAST \| DISEASES 51738 \| GHRL \| DISEASES 885 \| CCK \| DISEASES 23436 \| CELA3B \| DISEASES 2246 \| FGF1 \| DISEASES 132660 \| LIN54 \| DISEASES 1499 \| CTNNB1 \| DISEASES 54716 \| SLC6A20 \| DISEASES 27044 \| SND1 \| DISEASES 284654 \| RSPO1 \| DISEASES 2695 \| GIP \| DISEASES 5697 \| PYY \| DISEASES 1803 \| DPP4 \| DISEASES 2673 \| GFPT1 \| DISEASES 9926 \| LPGAT1 \| DISEASES 913 \| CD1E \| DISEASES 8771 \| TNFRSF6B \| DISEASES 9124 \| PDLIM1 \| DISEASES 7809 \| BSND \| DISEASES 2740 \| GLP1R \| DISEASES 1188 \| CLCNKB \| DISEASES 6564 \| SLC15A1 \| DISEASES 160897 \| GPR180 \| DISEASES 6518 \| SLC2A5 \| DISEASES 5590 \| PRKCZ \| DISEASES 795 \| S100G \| DISEASES 3486 \| IGFBP3 \| DISEASES 2254 \| FGF9 \| DISEASES 55576 \| STAB2 \| DISEASES 51347 \| TAOK3 \| DISEASES 2172 \| FABP6 \| DISEASES 728441 \| GGT2 \| DISEASES 7018 \| TF \| DISEASES 2641 \| GCG \| DISEASES 79827 \| CLMP \| DISEASES 196527 \| ANO6 \| DISEASES 151306 \| GPBAR1 \| DISEASES 9971 \| NR1H4 \| DISEASES 8972 \| MGAM \| DISEASES
Locus	(Waiting for update.)

Disease ID	439
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:0002917 \| Low blood magnesium levels \| 2 HP:0001396 \| Cholestasis \| 2 HP:0001298 \| Encephalopathy \| 2 HP:0001941 \| acidemia \| 2 HP:0002900 \| Hypokalemia \| 2 HP:0000618 \| Blindness \| 1 HP:0100790 \| Hernia \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0100806 \| Sepsis \| 1 HP:0005235 \| Jejunal atresia \| 1 HP:0001513 \| Obesity \| 1 HP:0002282 \| Heterotopias \| 1 HP:0001824 \| Weight loss \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0001543 \| Gastroschisis \| 1 HP:0001892 \| Bleeding diathesis \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0002580 \| Volvulus \| 1 HP:0001945 \| Fever \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0000662 \| Poor night vision \| 1 HP:0005208 \| Secretory diarrhea \| 1 HP:0001518 \| Small for gestational age \| 1

Disease ID	439
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 C0023895 \| liver disease \| 2 C0151723 \| hypomagnesemia \| 2 C0085584 \| encephalopathy \| 2 C0001125 \| lactic acidosis \| 1 C0036690 \| sepsis \| 1 C0268668 \| shoshin beriberi \| 1

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0036992	vitamin e	D014810	1406-18-4	short bowel syndrome	MESH:D012778	marker/mechanism	3226394

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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