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:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Parent Node:
Abnormal gastric mucosa morphology (HP:0004295)

Parent Node:
Peptic ulcer (HP:0004398)

..Starting node
..Gastric ulcer (HP:0002592)

Term ID:

2592

Name:

Gastric ulcer

Synonym:

Stomach ulcer

Definition:

An ulcer, that is, an erosion of an area of the gastric mucous membrane.

Comments:

Reference:

HP:0002592

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002592	HP:0002592	Gastric ulcer	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002592	HP:0002592	Gastric ulcer	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0002592	HP:0002592	Gastric ulcer	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0002592	HP:0002592	Gastric ulcer	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002592	HP:0002592	Gastric ulcer	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0002592	HP:0002592	Gastric ulcer	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389

Genes (5) :ARID1B CISD2 GBA1 PLA2G4A WFS1

Diseases (5) :OMIM:135900 ORPHA:3463 OMIM:604928 ORPHA:2072 OMIM:618372

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