Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the gastrointestinal tract (HP:0011024)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Neoplasm of the small intestine (HP:0100833)help
Term ID: 100833
Name: Neoplasm of the small intestine
Synonym: Small intestine tumor
Definition: The presence of a neoplasm of the small intestine.
Comments:
Reference: HP:0100833
Genes and Diseases:
 
       Child Nodes:
........expandSmall intestine carcinoid (HP:0006722) help
........expandSmall intestinal polyp (HP:0012737) help
........expandAdenocarcinoma of the small intestine (HP:0040274) help
................... HP:0006771 Duodenal adenocarcinoma
................... HP:0030411 Jejunal adenocarcinoma
................... HP:0030412 Ileal adenocarcinoma

 Sister Nodes: 
..expandAmpulla of Vater carcinoma (HP:0031524) help
..expandBenign gastrointestinal tract tumors (HP:0006719) help
..expandBiliary tract neoplasm (HP:0100574) help
..expandDesmoid tumors (HP:0100245) help
..expandEsophageal neoplasm (HP:0100751) help
..expandGastrointestinal stroma tumor (HP:0100723) help
..expandIntestinal carcinoid (HP:0006723) help
..expandIntestinal polyp (HP:0005266) help
..expandMalignant gastrointestinal tract tumors (HP:0006749) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandNeoplasm of the large intestine (HP:0100834) help
..expandNeoplasm of the liver (HP:0002896) help
..expandNeoplasm of the stomach (HP:0006753) help
..expandPrimary peritoneal carcinoma (HP:0030406) help
..expandZollinger-Ellison syndrome (HP:0002044) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100833HP:0100833Neoplasm of the small intestine0LMNA CL E G H400079474ORPHA15746636150330
HP:0100833HP:0100833Neoplasm of the small intestine1LMNA CL E G H400079474ORPHA15746636150330
HP:0100833HP:0100833Neoplasm of the small intestine2LMNA CL E G H400079474ORPHA15746636150330
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100833HP:0100833Neoplasm of the small intestine0KIT CL E G H381544890ORPHA01216342164920
HP:0100833HP:0100833Neoplasm of the small intestine0PDGFRA CL E G H515644890ORPHA0288803173490
HP:0100833HP:0100833Neoplasm of the small intestine0SDHA CL E G H638944890ORPHA09110680600857
HP:0100833HP:0100833Neoplasm of the small intestine0SDHB CL E G H639044890ORPHA027910681185470
HP:0100833HP:0100833Neoplasm of the small intestine0SDHC CL E G H639144890ORPHA06210682602413
HP:0100833HP:0100833Neoplasm of the small intestine0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0100833HP:0100833Neoplasm of the small intestine0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0100833HP:0100833Neoplasm of the small intestine1KIT CL E G H381544890ORPHA01216342164920
HP:0100833HP:0100833Neoplasm of the small intestine1PDGFRA CL E G H515644890ORPHA0288803173490
HP:0100833HP:0100833Neoplasm of the small intestine1SDHA CL E G H638944890ORPHA09110680600857
HP:0100833HP:0100833Neoplasm of the small intestine1SDHB CL E G H639044890ORPHA027910681185470
HP:0100833HP:0100833Neoplasm of the small intestine1SDHC CL E G H639144890ORPHA06210682602413
HP:0100833HP:0100833Neoplasm of the small intestine1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0100833HP:0100833Neoplasm of the small intestine1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0100833HP:0100833Neoplasm of the small intestine2KIT CL E G H381544890ORPHA01216342164920
HP:0100833HP:0100833Neoplasm of the small intestine2PDGFRA CL E G H515644890ORPHA0288803173490
HP:0100833HP:0100833Neoplasm of the small intestine2SDHA CL E G H638944890ORPHA09110680600857
HP:0100833HP:0100833Neoplasm of the small intestine2SDHB CL E G H639044890ORPHA027910681185470
HP:0100833HP:0100833Neoplasm of the small intestine2SDHC CL E G H639144890ORPHA06210682602413
HP:0100833HP:0100833Neoplasm of the small intestine2STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0100833HP:0100833Neoplasm of the small intestine2WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611


Genes (15) :APC BMPR1A KIT LMNA MLH1 MSH2 NTHL1 PDGFRA SDHA SDHB SDHC SDHD SMAD4 STK11 WRN

Diseases (11) :44890 79474 2869 902 79665 175100 100093 247806 174900 158320 454840
 

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