Human Phenotype Ontology

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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 digestive system physiology (HP:0025032)

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

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

..Starting node
..Peptic ulcer (HP:0004398)

Term ID:

4398

Name:

Peptic ulcer

Synonym:

Sore in the lining of gastrointestinal tract

Definition:

The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.

Comments:

Reference:

HP:0004398

Genes and Diseases:

Child Nodes:

........

Gastric ulcer (HP:0002592)

Sister Nodes:

Abnormal esophagus physiology (HP:0025270)

Abnormal gastrointestinal motility (HP:0030895)

Gastrointestinal hemorrhage (HP:0002239)

Gastrointestinal infarctions (HP:0005244)

Gastrointestinal inflammation (HP:0004386)

Gastrointestinal obstruction (HP:0004796)

Recurrent infection of the gastrointestinal tract (HP:0004798)

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:0004398	HP:0004398	Peptic ulcer	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional	6
HP:0004398	HP:0004398	Peptic ulcer	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0004398	HP:0004398	Peptic ulcer	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0004398	HP:0004398	Peptic ulcer	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional	169
HP:0004398	HP:0004398	Peptic ulcer	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional	169
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0004398	HP:0004398	Peptic ulcer	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0004398	HP:0004398	Peptic ulcer	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0004398	HP:0004398	Peptic ulcer	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0004398	HP:0004398	Peptic ulcer	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0004398	HP:0004398	Peptic ulcer	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	HP:0040283 - Occasional	16
HP:0004398	HP:0004398	Peptic ulcer	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004398	HP:0004398	Peptic ulcer	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004398	HP:0004398	Peptic ulcer	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004398	HP:0004398	Peptic ulcer	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0004398	HP:0004398	Peptic ulcer	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0004398	HP:0004398	Peptic ulcer	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0004398	HP:0004398	Peptic ulcer	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0004398	HP:0004398	Peptic ulcer	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004398	HP:0004398	Peptic ulcer	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004398	HP:0004398	Peptic ulcer	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0004398	HP:0004398	Peptic ulcer	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0004398	HP:0004398	Peptic ulcer	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0004398	HP:0004398	Peptic ulcer	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0004398	HP:0004398	Peptic ulcer	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0004398	HP:0004398	Peptic ulcer	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004398	HP:0004398	Peptic ulcer	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome		389
HP:0004398	HP:0002592	Gastric ulcer	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0004398	HP:0002592	Gastric ulcer	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0004398	HP:0002592	Gastric ulcer	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0004398	HP:0002592	Gastric ulcer	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0004398	HP:0002592	Gastric ulcer	1	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0004398	HP:0002592	Gastric ulcer	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389

Genes (39) :AP2S1 ARID1B ASXL1 BAZ1B BCL7B BUD23 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CISD2 CLIP2 DNAJC30 EIF4H ELN FKBP6 GBA1 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HPGD KIT LIMK1 MEN1 METTL27 MLXIPL NCF1 PLA2G4A RFC2 SLCO2A1 SRSF2 STX1A TBL2 TET2 TMEM270 VPS37D WFS1

Diseases (15) :OMIM:600740 OMIM:135900 ORPHA:98849 ORPHA:904 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:276152 ORPHA:3463 OMIM:604928 ORPHA:2072 OMIM:145981 ORPHA:2796 OMIM:131100 OMIM:618372

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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