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:
Abnormality of the small intestine (HP:0002244)

Parent Node:
Abnormal duodenum morphology (HP:0002246)

..Starting node
..Duodenal ulcer (HP:0002588)

Term ID:

2588

Name:

Duodenal ulcer

Synonym:

Definition:

An erosion of the mucous membrane in a portion of the duodenum.

Comments:

Reference:

HP:0002588

Genes and Diseases:

Child Nodes:

Sister Nodes:

Duodenal atresia (HP:0002247)

Duodenal atrophy (HP:0012414)

Duodenal stenosis (HP:0100867)

Megaduodenum (HP:0030996)

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:0002588	HP:0002588	Duodenal ulcer	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002588	HP:0002588	Duodenal ulcer	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002588	HP:0002588	Duodenal ulcer	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002588	HP:0002588	Duodenal ulcer	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002588	HP:0002588	Duodenal ulcer	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002588	HP:0002588	Duodenal ulcer	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0002588	HP:0002588	Duodenal ulcer	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002588	HP:0002588	Duodenal ulcer	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0002588	HP:0002588	Duodenal ulcer	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0002588	HP:0002588	Duodenal ulcer	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002588	HP:0002588	Duodenal ulcer	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002588	HP:0002588	Duodenal ulcer	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5

Genes (11) :ARID1B CDKN1A CDKN1B CDKN2B CDKN2C EP300 MEN1 PLA2G4A PLG SYK XYLT2

Diseases (8) :OMIM:135900 ORPHA:652 OMIM:618333 OMIM:618372 ORPHA:722 OMIM:217090 OMIM:619381 OMIM:605822

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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