Human Phenotype Ontology

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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:
Abnormal stomach morphology (HP:0002577)

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

Parent Node:
Neoplasm of the stomach (HP:0006753)

..Starting node
..Multiple gastric polyps (HP:0004394)

Term ID:

4394

Name:

Multiple gastric polyps

Synonym:

Definition:

Comments:

Reference:

HP:0004394

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastric leiomyosarcoma (HP:0031025)

Gastric lymphoma (HP:0045038)

Hamartomatous stomach polyps (HP:0004795)

Stomach cancer (HP:0012126)

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:0004394	HP:0004394	Multiple gastric polyps	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	HP:0040282 - Frequent	3179
HP:0004394	HP:0004394	Multiple gastric polyps	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	3179
HP:0004394	HP:0004394	Multiple gastric polyps	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040281 - Very frequent	3179
HP:0004394	HP:0004394	Multiple gastric polyps	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional	385
HP:0004394	HP:0004394	Multiple gastric polyps	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	HP:0040282 - Frequent	385
HP:0004394	HP:0004394	Multiple gastric polyps	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional	186
HP:0004394	HP:0004394	Multiple gastric polyps	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0004394	HP:0004394	Multiple gastric polyps	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional	504
HP:0004394	HP:0004394	Multiple gastric polyps	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome	HP:0040282 - Frequent	504
HP:0004394	HP:0004394	Multiple gastric polyps	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0004394	HP:0004394	Multiple gastric polyps	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56

Genes (7) :APC BMPR1A ENG MSH3 SMAD4 STK11 TREX1

Diseases (8) :OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:329971 OMIM:174900 ORPHA:480536 OMIM:175200 OMIM:225750

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

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