Human Phenotype Ontology

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:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal coronary artery morphology (HP:0006704)

..Starting node
..Intimal thickening in the coronary arteries (HP:0005292)

Term ID:

5292

Name:

Intimal thickening in the coronary arteries

Synonym:

Definition:

Comments:

Reference:

HP:0005292

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal coronary artery course (HP:0011686)

Abnormal coronary artery origin (HP:0011636)

Coronary artery aneurysm (HP:0030882)

Coronary artery atherosclerosis (HP:0001677)

Coronary artery calcification (HP:0001717)

Coronary artery dissection (HP:0006702)

Coronary artery stenosis (HP:0005145)

Granulomatous coronary arteritis (HP:0006679)

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:0005292	HP:0005292	Intimal thickening in the coronary arteries	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120

Genes (1) :GLB1

Diseases (1) :OMIM:253010

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