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 renal morphology (HP:0012210)

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal renal artery morphology (HP:0008776)

..Starting node
..Renal artery atherosclerosis (HP:0031684)

Term ID:

31684

Name:

Renal artery atherosclerosis

Synonym:

Definition:

An atherosclerotic lesion located in the renal artery.

Comments:

Reference:

HP:0031684

Genes and Diseases:

Child Nodes:

Sister Nodes:

Renal artery stenosis (HP:0001920)

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:0031684	HP:0031684	Renal artery atherosclerosis	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional	65

Genes (1) :PNPLA2

Diseases (1) :ORPHA:565612

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