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:
Abnormal circulating lipid concentration (HP:0003119)

Parent Node:
Hypolipidemia (HP:0045014)

..Starting node
..Hypotriglyceridemia (HP:0012153)

Term ID:

12153

Name:

Hypotriglyceridemia

Synonym:

Decreased circulating Tg levels; Decreased plasma Tg levels; Low blood triglyceride levels

Definition:

An decrease in the level of triglycerides in the blood.

Comments:

Reference:

HP:0012153

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012153	HP:0012153	Hypotriglyceridemia	0	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0012153	HP:0012153	Hypotriglyceridemia	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0012153	HP:0012153	Hypotriglyceridemia	0	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040282 - Frequent	6
HP:0012153	HP:0012153	Hypotriglyceridemia	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0012153	HP:0012153	Hypotriglyceridemia	0	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040282 - Frequent	41
HP:0012153	HP:0012153	Hypotriglyceridemia	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012153	HP:0012153	Hypotriglyceridemia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0012153	HP:0012153	Hypotriglyceridemia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0012153	HP:0012153	Hypotriglyceridemia	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0012153	HP:0012153	Hypotriglyceridemia	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8

Genes (9) :ANGPTL3 APOC3 CCT5 CETP GALNT2 MTTP NGLY1 PCYT1A SAR1B

Diseases (9) :OMIM:605019 OMIM:614028 ORPHA:79506 OMIM:256840 OMIM:618885 ORPHA:14 ORPHA:404454 ORPHA:85167 OMIM:246700

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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