Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	4
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	31
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0005244	HP:0005244	Gastrointestinal infarctions	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040283 - Occasional	78

Genes (14) :B2M CALR COL3A1 F5 HLA-B HLA-DRB1 IL12B JAK2 MEFV MLX P4HA2 PTPN22 STK11 TEK

Diseases (8) :ORPHA:314652 ORPHA:131 ORPHA:286 ORPHA:397 ORPHA:3287 ORPHA:342 ORPHA:2869 ORPHA:1059

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen