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 circulating lipid concentration (HP:0003119)

Parent Node:
Abnormal circulating cholesterol concentration (HP:0003107)

..Starting node
..Low cholesterol esterification rate (HP:0003349)

Term ID:

3349

Name:

Low cholesterol esterification rate

Synonym:

Definition:

A reduction in the rate of cholesterol esterification.

Comments:

Reference:

HP:0003349

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Elevated 7-dehydrocholesterol (HP:0010569)

Elevated 8(9)-cholestenol (HP:0003465)

Elevated 8-dehydrocholesterol (HP:0003462)

Elevated cholesterol ester level (HP:0031211)

Hypercholesterolemia (HP:0003124)

Hypocholesterolemia (HP:0003146)

obsolete Abnormal cholesterol homeostasis (HP:0003464)

obsolete Increased cholesterol esters (HP:0500010)

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:0003349	HP:0003349	Low cholesterol esterification rate	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0003349	HP:0003349	Low cholesterol esterification rate	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33

Genes (2) :NPC1 NPC2

Diseases (2) :OMIM:257220 OMIM:607625

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