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 the vasculature (HP:0002597)

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

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

..Starting node
..Gastrointestinal angiodysplasia (HP:0000471)

Term ID:

471

Name:

Gastrointestinal angiodysplasia

Synonym:

GI angiodysplasia

Definition:

Dysplasia affecting the vasculature of the gastrointestinal tract.

Comments:

Reference:

HP:0000471

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastrointestinal arteriovenous malformation (HP:0002629)

Gastrointestinal telangiectasia (HP:0002604)

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:0000471	HP:0000471	Gastrointestinal angiodysplasia	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0000471	HP:0000471	Gastrointestinal angiodysplasia	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0000471	HP:0000471	Gastrointestinal angiodysplasia	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533

Genes (3) :ACVRL1 ENG VWF

Diseases (3) :OMIM:600376 OMIM:187300 OMIM:193400

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