Human Phenotype Ontology

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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:
Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Parent Node:
Abnormal VLDL cholesterol concentration (HP:0031889)

Parent Node:
Hyperlipoproteinemia (HP:0010980)

..Starting node
..Increased VLDL cholesterol concentration (HP:0003362)

Term ID:

3362

Name:

Increased VLDL cholesterol concentration

Synonym:

Increased circulating very-low-density lipoprotein cholesterol; Increased circulating very-low-density lipoprotein levels; Increased plasma VLDL cholesterol

Definition:

An increase in the amount of very-low-density lipoprotein cholesterol in the blood.

Comments:

Reference:

HP:0003362

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating chylomicron concentration (HP:0012238)

Increased HDL cholesterol concentration (HP:0012184)

Increased LDL cholesterol concentration (HP:0003141)

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:0003362	HP:0003362	Increased VLDL cholesterol concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0003362	HP:0003362	Increased VLDL cholesterol concentration	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0003362	HP:0003362	Increased VLDL cholesterol concentration	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0003362	HP:0003362	Increased VLDL cholesterol concentration	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0003362	HP:0003362	Increased VLDL cholesterol concentration	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003362	HP:0003362	Increased VLDL cholesterol concentration	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25

Genes (5) :APOA5 LCAT LDLRAP1 LPL UBR1

Diseases (6) :OMIM:144650 OMIM:145750 OMIM:136120 OMIM:603813 OMIM:144250 OMIM:243800

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

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