Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the gastrointestinal tract (HP:0011024)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of the gastrointestinal tract (HP:0007378)

..Starting node
..Benign gastrointestinal tract tumors (HP:0006719)

Term ID:

6719

Name:

Benign gastrointestinal tract tumors

Synonym:

Benign gastrointestinal tract tumours; Benign GI tract tumors; Benign GI tract tumours; Non-cancerous GI tumors; Non-cancerous GI tumours

Definition:

Comments:

Reference:

HP:0006719

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ampulla of Vater carcinoma (HP:0031524)

Biliary tract neoplasm (HP:0100574)

Desmoid tumors (HP:0100245)

Esophageal neoplasm (HP:0100751)

Gastrointestinal stroma tumor (HP:0100723)

Intestinal carcinoid (HP:0006723)

Intestinal polyp (HP:0005266)

Malignant gastrointestinal tract tumors (HP:0006749)

Multiple intestinal neurofibromatosis (HP:0005220)

Neoplasm of the large intestine (HP:0100834)

Neoplasm of the liver (HP:0002896)

Neoplasm of the small intestine (HP:0100833)

Neoplasm of the stomach (HP:0006753)

Primary peritoneal carcinoma (HP:0030406)

Zollinger-Ellison syndrome (HP:0002044)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006719	HP:0006719	Benign gastrointestinal tract tumors	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0006719	HP:0006719	Benign gastrointestinal tract tumors	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0006719	HP:0006719	Benign gastrointestinal tract tumors	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162

Genes (3) :GNAS MLH1 MSH2

Diseases (2) :ORPHA:562 OMIM:158320

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