Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormality of the gastrointestinal tract (HP:0011024)help
Parent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the gastrointestinal tract (HP:0007378)help
Term ID: 7378
Name: Neoplasm of the gastrointestinal tract
Synonym: Gastrointestinal tract neoplasia; Gastrointestinal tract neoplasm; Gastrointestinal tract tumor; GI tract tumor; Neoplasm of the GI tract
Definition: A tumor (abnormal growth of tissue) of the gastrointestinal tract.
Comments:
Reference: HP:0007378
Genes and Diseases:
 
       Child Nodes:
........expandZollinger-Ellison syndrome (HP:0002044) help
........expandNeoplasm of the liver (HP:0002896) help
................... HP:0001402 Hepatocellular carcinoma
................... HP:0002884 Hepatoblastoma
................... HP:0012028 Hepatocellular adenoma
................... HP:0031207 Hepatic hemangioma
........expandMultiple intestinal neurofibromatosis (HP:0005220) help
........expandIntestinal polyp (HP:0005266) help
................... HP:0004390 Hamartomatous polyposis
................... HP:0012737 Small intestinal polyp
................... HP:0025198 Inflammatory cap polyp
................... HP:0200008 Intestinal polyposis
........expandBenign gastrointestinal tract tumors (HP:0006719) help
........expandIntestinal carcinoid (HP:0006723) help
........expandMalignant gastrointestinal tract tumors (HP:0006749) help
................... HP:0002672 Gastrointestinal carcinoma
........expandNeoplasm of the stomach (HP:0006753) help
................... HP:0004394 Multiple gastric polyps
................... HP:0004795 Hamartomatous stomach polyps
................... HP:0012126 Stomach cancer
................... HP:0031025 Gastric leiomyosarcoma
................... HP:0045038 Gastric lymphoma
........expandPrimary peritoneal carcinoma (HP:0030406) help
........expandAmpulla of Vater carcinoma (HP:0031524) help
........expandDesmoid tumors (HP:0100245) help
........expandBiliary tract neoplasm (HP:0100574) help
................... HP:0025519 Multiple biliary hamartomas
................... HP:0030153 Cholangiocarcinoma
................... HP:0100575 Neoplasm of the gallbladder
........expandGastrointestinal stroma tumor (HP:0100723) help
........expandEsophageal neoplasm (HP:0100751) help
................... HP:0011459 Esophageal carcinoma
................... HP:0031463 Esophageal squamous papilloma
................... HP:0100580 Barrett esophagus
........expandNeoplasm of the small intestine (HP:0100833) help
................... HP:0006722 Small intestine carcinoid
................... HP:0012737 Small intestinal polyp
................... HP:0040274 Adenocarcinoma of the small intestine
........expandNeoplasm of the large intestine (HP:0100834) help
................... HP:0006716 Hereditary nonpolyposis colorectal carcinoma
................... HP:0030437 Anal canal neoplasm
................... HP:0040275 Adenocarcinoma of the large intestine
................... HP:0100273 Neoplasm of the colon
................... HP:0100743 Neoplasm of the rectum

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract0SDHB CL E G H6390606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM127910681185470
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract0SDHC CL E G H6391606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM16210682602413
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract0SDHD CL E G H6392606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM117410683602690
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract1SDHB CL E G H6390606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM127910681185470
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract1SDHC CL E G H6391606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM16210682602413
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract1SDHD CL E G H6392606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM117410683602690
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract2SDHB CL E G H6390606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM127910681185470
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract2SDHC CL E G H6391606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM16210682602413
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract2SDHD CL E G H6392606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM117410683602690
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract3SDHB CL E G H6390606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM127910681185470
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract3SDHC CL E G H6391606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM16210682602413
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract3SDHD CL E G H6392606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM117410683602690
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract4SDHB CL E G H6390606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM127910681185470
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract4SDHC CL E G H6391606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM16210682602413
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract4SDHD CL E G H6392606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM117410683602690
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract5SDHB CL E G H6390606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM127910681185470
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract5SDHC CL E G H6391606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM16210682602413
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract5SDHD CL E G H6392606864Paraganglioma and gastric stromal sarcoma606864C1847319OMIM117410683602690
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract0BLM CL E G H641125ORPHA01311058604610
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract1BLM CL E G H641125ORPHA01311058604610
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract2BLM CL E G H641125ORPHA01311058604610
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract3BLM CL E G H641125ORPHA01311058604610
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract4BLM CL E G H641125ORPHA01311058604610
HP:0007378HP:0007378Neoplasm of the gastrointestinal tract5BLM CL E G H641125ORPHA01311058604610


Genes (193) :AAGAB ABCB11 ACD ACVRL1 AHCY AKT1 APC ARSA ASCC1 ATP7B ATRX AXIN1 AXIN2 BAP1 BARD1 BCL10 BLM BMPR1A BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C11ORF95 CASP10 CASP8 CC2D2A CD19 CD81 CDH1 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D CEP57 CHEK2 COL14A1 COMP CR2 CTHRC1 CTNNB1 DAXX DCC DICER1 DIS3L2 DLC1 DLEC1 DOCK8 ECE1 EDN3 EDNRB ENG EP300 EPCAM ERBB2 FAH FAN1 FGFR2 FGFR3 FH FLCN FOXE1 G6PC GDF2 GDNF GNAS GPC3 GPC4 GPR35 GREM1 H19 H19-ICR HABP2 HBB HFE HMBS HNF1A ICOS IGF2 IGF2R IL12A IL12RB1 INPP5E IRF1 IRF5 JAG1 KCNQ1 KCNQ1OT1 KEAP1 KIT KLF6 KLLN KRAS LMNA MC1R MDM2 MEN1 MET MGMT MINPP1 MITF MLH1 MLH3 MMEL1 MRE11 MS4A1 MSH2 MSH3 MSH6 MSR1 MST1 MUTYH NBN NFKB1 NFKB2 NRAS NRTN NTHL1 PALB2 PALLD PDGFRA PDGFRL PIEZO2 PIK3CA PMS1 PMS2 POLD1 POLE POT1 POU2AF1 POU6F2 PRKAR1A PRKCD PSAP PTCH1 PTCH2 PTEN PTPN3 RAD21 RAD50 RAD51 RAD51C RAD51D RELA REST RET RHBDF2 RNF43 RNF6 RPGRIP1L RPS19 SDHA SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SERPINA1 SETBP1 SLC25A13 SLC37A4 SMAD4 SPIB SPRTN SRC STAT1 STK11 SUFU TCF4 TERF2IP TERT TGFBR2 TJP2 TMEM67 TNFRSF13B TNFRSF13C TNFSF12 TNFSF15 TNPO3 TP53 TREX1 TRIM28 TRIP13 UROD WRN WT1 WWOX

Diseases (119) :125 606864 618 114500 79665 261584 247806 873 135290 175100 100075 145 1333 654 251636 1454 1572 652 276152 231214 231222 44890 606764 79474 97279 131100 587 158320 248700 70567 2198 157798 97286 115310 100093 2869 902 601847 774 88618 201 615109 114550 613659 309271 614266 277900 137245 174900 1052 137215 130650 524 609265 750 99977 388 144 613244 882 276700 523 232200 174800 373 171 180860 465508 235200 79276 176000 142330 186 118450 614385 480536 617100 614350 454840 615108 614337 1359 109400 109 158350 611376 148500 616858 613490 798 269150 603471 232220 232240 175050 616200 391487 175200 614331 615878 225750 176100 79501 401911 608615 157794 610069 276399 217390 135150 319487 609310 120435 247798 608456 447877 617108 105650 151623
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.