Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 circulating cholesterol concentration (HP:0003107)

Parent Node:
Abnormality of lipoprotein cholesterol concentration (HP:0010979)

..Starting node
..Abnormal VLDL cholesterol concentration (HP:0031889)

Term ID:

31889

Name:

Abnormal VLDL cholesterol concentration

Synonym:

Definition:

Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.

Comments:

Reference:

HP:0031889

Genes and Diseases:

Child Nodes:

........

Increased VLDL cholesterol concentration (HP:0003362)

........

Decreased VLDL cholesterol concentration (HP:0031243)

Sister Nodes:

Abnormal chylomicron concentration (HP:0031887)

Abnormal HDL cholesterol concentration (HP:0031888)

Abnormal LDL cholesterol concentration (HP:0031886)

Hyperlipoproteinemia (HP:0010980)

Hypolipoproteinemia (HP:0010981)

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:0031889	HP:0031889	Abnormal VLDL cholesterol concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0031889	HP:0031889	Abnormal VLDL cholesterol concentration	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0031889	HP:0031889	Abnormal VLDL cholesterol concentration	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0031889	HP:0031889	Abnormal VLDL cholesterol concentration	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0031889	HP:0031889	Abnormal VLDL cholesterol concentration	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0031889	HP:0031889	Abnormal VLDL cholesterol concentration	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0031889	HP:0031243	Decreased VLDL cholesterol concentration	1	CL E G H
HP:0031889	HP:0003362	Increased VLDL cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0031889	HP:0003362	Increased VLDL cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0031889	HP:0003362	Increased VLDL cholesterol concentration	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0031889	HP:0003362	Increased VLDL cholesterol concentration	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0031889	HP:0003362	Increased VLDL cholesterol concentration	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0031889	HP:0003362	Increased VLDL cholesterol concentration	1	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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen