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:
Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Parent Node:
Abnormal HDL cholesterol concentration (HP:0031888)

Parent Node:
Hyperlipoproteinemia (HP:0010980)

..Starting node
..Increased HDL cholesterol concentration (HP:0012184)

Term ID:

12184

Name:

Increased HDL cholesterol concentration

Synonym:

High blood HDL level; Hyperalphalipoproteinemia; Increased circulating high-density lipoprotein levels

Definition:

An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.

Comments:

Reference:

HP:0012184

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating chylomicron concentration (HP:0012238)

Increased LDL cholesterol concentration (HP:0003141)

Increased VLDL cholesterol concentration (HP:0003362)

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:0012184	HP:0012184	Increased HDL cholesterol concentration	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0012184	HP:0012184	Increased HDL cholesterol concentration	0	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0012184	HP:0012184	Increased HDL cholesterol concentration	0	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0012184	HP:0012184	Increased HDL cholesterol concentration	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0012184	HP:0012184	Increased HDL cholesterol concentration	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040280 - Obligate	35

Genes (3) :APOC3 CETP LIPC

Diseases (4) :OMIM:614028 ORPHA:79506 OMIM:614025 ORPHA:140905

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