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; Small intestine tumour
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100833HP:0100833Neoplasm of the small intestine0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0100833HP:0100833Neoplasm of the small intestine0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100833HP:0100833Neoplasm of the small intestine0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100833HP:0100833Neoplasm of the small intestine0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100833HP:0100833Neoplasm of the small intestine0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0100833HP:0100833Neoplasm of the small intestine0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0100833HP:0100833Neoplasm of the small intestine0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0100833HP:0100833Neoplasm of the small intestine0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0100833HP:0100833Neoplasm of the small intestine0KIT CL E G H38156342ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional327
HP:0100833HP:0100833Neoplasm of the small intestine0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040282 - Frequent645
HP:0100833HP:0100833Neoplasm of the small intestine0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0100833HP:0100833Neoplasm of the small intestine0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0100833HP:0100833Neoplasm of the small intestine0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0100833HP:0100833Neoplasm of the small intestine0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0100833HP:0100833Neoplasm of the small intestine0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0100833HP:0100833Neoplasm of the small intestine0PDGFRA CL E G H51568803ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional337
HP:0100833HP:0100833Neoplasm of the small intestine0SDHA CL E G H638910680ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional304
HP:0100833HP:0100833Neoplasm of the small intestine0SDHB CL E G H639010681ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional237
HP:0100833HP:0100833Neoplasm of the small intestine0SDHC CL E G H639110682ORPHA:44890Gastrointestinal stromal tumorHP:0040283 - Occasional147
HP:0100833HP:0100833Neoplasm of the small intestine0SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0100833HP:0100833Neoplasm of the small intestine0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0100833HP:0100833Neoplasm of the small intestine0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0100833HP:0100833Neoplasm of the small intestine0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0100833HP:0012737Small intestinal polyp1 CL E G H
HP:0100833HP:0040274Adenocarcinoma of the small intestine1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0100833HP:0040274Adenocarcinoma of the small intestine1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100833HP:0006722Small intestine carcinoid1APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0100833HP:0040274Adenocarcinoma of the small intestine1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100833HP:0006722Small intestine carcinoid1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0100833HP:0040274Adenocarcinoma of the small intestine1BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndrome385
HP:0100833HP:0040274Adenocarcinoma of the small intestine1BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0100833HP:0040274Adenocarcinoma of the small intestine1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0100833HP:0040274Adenocarcinoma of the small intestine1GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndrome9
HP:0100833HP:0040274Adenocarcinoma of the small intestine1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0100833HP:0040274Adenocarcinoma of the small intestine1MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0100833HP:0040274Adenocarcinoma of the small intestine1MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0100833HP:0040274Adenocarcinoma of the small intestine1NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0100833HP:0040274Adenocarcinoma of the small intestine1NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0100833HP:0006722Small intestine carcinoid1SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040282 - Frequent129
HP:0100833HP:0040274Adenocarcinoma of the small intestine1SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0100833HP:0030412Ileal adenocarcinoma2 CL E G H
HP:0100833HP:0030411Jejunal adenocarcinoma2 CL E G H
HP:0100833HP:0006771Duodenal adenocarcinoma2APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100833HP:0006771Duodenal adenocarcinoma2APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0100833HP:0006771Duodenal adenocarcinoma2BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare385
HP:0100833HP:0006771Duodenal adenocarcinoma2BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0100833HP:0006771Duodenal adenocarcinoma2GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare9
HP:0100833HP:0006771Duodenal adenocarcinoma2MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0100833HP:0006771Duodenal adenocarcinoma2MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0100833HP:0006771Duodenal adenocarcinoma2NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0100833HP:0006771Duodenal adenocarcinoma2NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040283 - Occasional2
HP:0100833HP:0006771Duodenal adenocarcinoma2SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504


Genes (18) :AAGAB APC BMPR1A COL14A1 GREM1 KIT LMNA MLH1 MSH2 NTHL1 PDGFRA SDHA SDHB SDHC SDHD SMAD4 STK11 WRN

Diseases (15) :ORPHA:79501 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:157794 OMIM:174900 ORPHA:44890 ORPHA:79474 OMIM:276300 OMIM:158320 OMIM:616415 ORPHA:454840 ORPHA:100093 ORPHA:2869 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.