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:
Abnormal vascular morphology (HP:0025015)

Parent Node:
Abnormal gastrointestinal vascular morphology (HP:0004296)

Parent Node:
Arteriovenous malformation (HP:0100026)

..Starting node
..Gastrointestinal arteriovenous malformation (HP:0002629)

Term ID:

2629

Name:

Gastrointestinal arteriovenous malformation

Synonym:

GI arteriovenous malformation

Definition:

An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.

Comments:

Reference:

HP:0002629

Genes and Diseases:

Child Nodes:

........

Gastric arteriovenous malformation (HP:0031341)

........

Duodenal arteriovenous malformation (HP:0031342)

........

Jejunal arteriovenous malformation (HP:0031343)

........

Colonic arteriovenous malformation (HP:0031345)

........

Rectal arteriovenous malformation (HP:0031346)

Sister Nodes:

Arteriovenous fistula (HP:0004947)

Cerebral arteriovenous malformation (HP:0002408)

Hepatic arteriovenous malformation (HP:0006574)

Pelvic arteriovenous malformation (HP:0031344)

Pulmonary arteriovenous malformation (HP:0006548)

Spinal arteriovenous malformation (HP:0002390)

Uterine arteriovenous malformation (HP:0031347)

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:0002629	HP:0002629	Gastrointestinal arteriovenous malformation	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002629	HP:0002629	Gastrointestinal arteriovenous malformation	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002629	HP:0002629	Gastrointestinal arteriovenous malformation	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040284 - Very rare	37
HP:0002629	HP:0031346	Rectal arteriovenous malformation	1	CL E G H
HP:0002629	HP:0031345	Colonic arteriovenous malformation	1	CL E G H
HP:0002629	HP:0031343	Jejunal arteriovenous malformation	1	CL E G H
HP:0002629	HP:0031342	Duodenal arteriovenous malformation	1	CL E G H
HP:0002629	HP:0031341	Gastric arteriovenous malformation	1	CL E G H

Genes (3) :ACVRL1 ENG GLMN

Diseases (3) :OMIM:600376 OMIM:187300 ORPHA:83454

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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