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:
Hamartomatous polyposis (HP:0004390)

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

..Starting node
..Hamartomatous stomach polyps (HP:0004795)

Term ID:

4795

Name:

Hamartomatous stomach polyps

Synonym:

Definition:

Polyp-like protrusions which are histologically hamartomas located in the stomach.

Comments:

Reference:

HP:0004795

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastric leiomyosarcoma (HP:0031025)

Gastric lymphoma (HP:0045038)

Multiple gastric polyps (HP:0004394)

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:0004795	HP:0004795	Hamartomatous stomach polyps	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0004795	HP:0004795	Hamartomatous stomach polyps	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0004795	HP:0004795	Hamartomatous stomach polyps	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124

Genes (3) :PTCH1 PTCH2 SUFU

Diseases (1) :OMIM:109400

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