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 morphology (HP:0025033)

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

Parent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Morphological abnormality of the gastrointestinal tract (HP:0012718)

..Starting node
..Abnormal gastrointestinal vascular morphology (HP:0004296)

Term ID:

4296

Name:

Abnormal gastrointestinal vascular morphology

Synonym:

Abnormality of gastrointestinal vasculature; Abnormality of GI blood vessels; Abnormality of GI vasculature

Definition:

Comments:

Reference:

HP:0004296

Genes and Diseases:

Child Nodes:

........

Gastrointestinal angiodysplasia (HP:0000471)

........

Gastrointestinal telangiectasia (HP:0002604)

........

Gastrointestinal arteriovenous malformation (HP:0002629)

................... HP:0031341 Gastric arteriovenous malformation
................... HP:0031342 Duodenal arteriovenous malformation
................... HP:0031343 Jejunal arteriovenous malformation
................... HP:0031345 Colonic arteriovenous malformation
................... HP:0031346 Rectal arteriovenous malformation

Sister Nodes:

Abnormal esophagus morphology (HP:0002031)

Abnormal intestine morphology (HP:0002242)

Abnormal stomach morphology (HP:0002577)

Anorectal anomaly (HP:0012732)

Gastrointestinal atresia (HP:0002589)

Gastrointestinal duplication (HP:0011140)

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:0004296	HP:0004296	Abnormal gastrointestinal vascular morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0004296	HP:0004296	Abnormal gastrointestinal vascular morphology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0004296	HP:0004296	Abnormal gastrointestinal vascular morphology	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation		37
HP:0004296	HP:0004296	Abnormal gastrointestinal vascular morphology	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0004296	HP:0000471	Gastrointestinal angiodysplasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0004296	HP:0002629	Gastrointestinal arteriovenous malformation	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0004296	HP:0002604	Gastrointestinal telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0004296	HP:0000471	Gastrointestinal angiodysplasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0004296	HP:0002629	Gastrointestinal arteriovenous malformation	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0004296	HP:0002604	Gastrointestinal telangiectasia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0004296	HP:0002629	Gastrointestinal arteriovenous malformation	1	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040284 - Very rare	37
HP:0004296	HP:0000471	Gastrointestinal angiodysplasia	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0004296	HP:0031343	Jejunal arteriovenous malformation	2	CL E G H
HP:0004296	HP:0031342	Duodenal arteriovenous malformation	2	CL E G H
HP:0004296	HP:0031341	Gastric arteriovenous malformation	2	CL E G H
HP:0004296	HP:0031346	Rectal arteriovenous malformation	2	CL E G H
HP:0004296	HP:0031345	Colonic arteriovenous malformation	2	CL E G H

Genes (4) :ACVRL1 ENG GLMN VWF

Diseases (4) :OMIM:600376 OMIM:187300 ORPHA:83454 OMIM:193400

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