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:
Arterial stenosis (HP:0100545)

Parent Node:
Peripheral arterial stenosis (HP:0004950)

..Starting node
..Premature occlusive vascular stenosis (HP:0005297)

Term ID:

5297

Name:

Premature occlusive vascular stenosis

Synonym:

Definition:

Peripheral arterial stenosis with onset before the age of 50 years.

Comments:

Reference:

HP:0005297

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005297	HP:0005297	Premature occlusive vascular stenosis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415

Genes (1) :ABCC6

Diseases (1) :OMIM:177850

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