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
..Gastrointestinal infarctions (HP:0005244)

Term ID:

5244

Name:

Gastrointestinal infarctions

Synonym:

Death of digestive organ tissue due to poor blood supply; GI infarctions

Definition:

Comments:

Reference:

HP:0005244

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal esophagus physiology (HP:0025270)

Abnormal gastrointestinal motility (HP:0030895)

Gastrointestinal hemorrhage (HP:0002239)

Gastrointestinal inflammation (HP:0004386)

Gastrointestinal obstruction (HP:0004796)

Peptic ulcer (HP:0004398)

Recurrent infection of the gastrointestinal tract (HP:0004798)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome	ORPHA	1	2528	2201	120180
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome	ORPHA	1	2909	2209	120215
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	F5 CL E G H	2153	131	Myeloid sarcoma	ORPHA	0	601	3542	612309
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	HLA-B CL E G H	3106	3287		ORPHA	0	29	4932	142830
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	IL12B CL E G H	3593	3287		ORPHA	0	216	5970	161561
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	JAK2 CL E G H	3717	131	Myeloid sarcoma	ORPHA	0	412	6192	147796
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	MEFV CL E G H	4210	342		ORPHA	0	1083	6998	608107
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	MLX CL E G H	6945	3287		ORPHA	0	31	11645	602976
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome	ORPHA	0	63	9652	600716
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic	ORPHA	0	2389	11389	602216
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	TEK CL E G H	7010	1059	MTHFS-related condition	ORPHA	0	399	11724	600221

Genes (11) :COL3A1 COL5A1 F5 HLA-B IL12B JAK2 MEFV MLX PTPN22 STK11 TEK

Diseases (7) :286 131 3287 342 397 2869 1059

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