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 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:

An ulcer of the gastrointestinal tract.

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	1	28	1784	116899
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN1B CL E G H	1027	276152				ORPHA	1	855	1785	600778
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	1	855	1785	600778
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	1	126	1788	600431
HP:0004398	HP:0004398	Peptic ulcer	0	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	1	21	1789	603369
HP:0004398	HP:0004398	Peptic ulcer	0	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	1	2173	7010	613733
HP:0004398	HP:0004398	Peptic ulcer	0	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	2173	7010	613733
HP:0004398	HP:0002592	Gastric ulcer	1	CDKN1A CL E G H	1026	652	Amebiasis			ORPHA	1	28	1784	116899
HP:0004398	HP:0002592	Gastric ulcer	1	CDKN1B CL E G H	1027	276152				ORPHA	1	855	1785	600778
HP:0004398	HP:0002592	Gastric ulcer	1	CDKN1B CL E G H	1027	652	Amebiasis			ORPHA	1	855	1785	600778
HP:0004398	HP:0002592	Gastric ulcer	1	CDKN2B CL E G H	1030	652	Amebiasis			ORPHA	1	126	1788	600431
HP:0004398	HP:0002592	Gastric ulcer	1	CDKN2C CL E G H	1031	652	Amebiasis			ORPHA	1	21	1789	603369
HP:0004398	HP:0002592	Gastric ulcer	1	MEN1 CL E G H	4221	652	Amebiasis			ORPHA	1	2173	7010	613733
HP:0004398	HP:0002592	Gastric ulcer	1	MEN1 CL E G H	4221	131100	Multiple endocrine neoplasia, type 1	131100	C0025267	OMIM	1	2173	7010	613733
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004398	HP:0004398	Peptic ulcer	0	AP2S1 CL E G H	1175	600740	Hypocalciuric hypercalcemia, familial, type III	600740	C1833372	OMIM	0	109	565	602242
HP:0004398	HP:0004398	Peptic ulcer	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0004398	HP:0004398	Peptic ulcer	0	CDC73 CL E G H	79577	99880				ORPHA	0	1384	16783	607393
HP:0004398	HP:0004398	Peptic ulcer	0	CDC73 CL E G H	79577	143				ORPHA	0	1384	16783	607393
HP:0004398	HP:0004398	Peptic ulcer	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0004398	HP:0004398	Peptic ulcer	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0004398	HP:0004398	Peptic ulcer	0	GNA11 CL E G H	2767	145981	Hypocalciuric hypercalcemia, familial, type II	145981	C1840347	OMIM	0	283	4379	139313
HP:0004398	HP:0004398	Peptic ulcer	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0004398	HP:0004398	Peptic ulcer	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0004398	HP:0004398	Peptic ulcer	0	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	227	5154	601688
HP:0004398	HP:0004398	Peptic ulcer	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0004398	HP:0004398	Peptic ulcer	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0004398	HP:0004398	Peptic ulcer	0	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	247	10955	601460
HP:0004398	HP:0004398	Peptic ulcer	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0004398	HP:0002592	Gastric ulcer	1	AP2S1 CL E G H	1175	600740	Hypocalciuric hypercalcemia, familial, type III	600740	C1833372	OMIM	0	109	565	602242
HP:0004398	HP:0002592	Gastric ulcer	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0004398	HP:0002592	Gastric ulcer	1	CDC73 CL E G H	79577	99880				ORPHA	0	1384	16783	607393
HP:0004398	HP:0002592	Gastric ulcer	1	CDC73 CL E G H	79577	143				ORPHA	0	1384	16783	607393
HP:0004398	HP:0002592	Gastric ulcer	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0004398	HP:0002592	Gastric ulcer	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0004398	HP:0002592	Gastric ulcer	1	GNA11 CL E G H	2767	145981	Hypocalciuric hypercalcemia, familial, type II	145981	C1840347	OMIM	0	283	4379	139313
HP:0004398	HP:0002592	Gastric ulcer	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0004398	HP:0002592	Gastric ulcer	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0004398	HP:0002592	Gastric ulcer	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	227	5154	601688
HP:0004398	HP:0002592	Gastric ulcer	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0004398	HP:0002592	Gastric ulcer	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0004398	HP:0002592	Gastric ulcer	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	247	10955	601460
HP:0004398	HP:0002592	Gastric ulcer	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842

Genes (22) :AP2S1 ARID1B BAZ1B CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CISD2 CLIP2 ELN ERGIC1 GNA11 GTF2I GTF2IRD1 HPGD LIMK1 MEN1 RFC2 SLCO2A1 TBL2 WFS1

Diseases (13) :600740 904 143 99880 652 276152 145981 2796 131100 135900 3463 604928 1143

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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