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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal circulating lipid concentration (HP:0003119)

..Starting node
..Hypolipidemia (HP:0045014)

Term ID:

45014

Name:

Hypolipidemia

Synonym:

Definition:

Comments:

Reference:

HP:0045014

Genes and Diseases:

Child Nodes:

........

Hypotriglyceridemia (HP:0012153)

Sister Nodes:

Abnormal circulating cholesterol concentration (HP:0003107)

Abnormal circulating fatty-acid concentration (HP:0004359)

Abnormal circulating phospholipid concentration (HP:0040176)

Abnormality of liposaccharide metabolism (HP:0010968)

Hyperapobetalipoproteinemia (HP:0008158)

Hyperlipidemia (HP:0003077)

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:0045014	HP:0045014	Hypolipidemia	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0045014	HP:0045014	Hypolipidemia	0	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0045014	HP:0045014	Hypolipidemia	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0045014	HP:0045014	Hypolipidemia	0	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency		6
HP:0045014	HP:0045014	Hypolipidemia	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0045014	HP:0045014	Hypolipidemia	0	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency		41
HP:0045014	HP:0045014	Hypolipidemia	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0045014	HP:0045014	Hypolipidemia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0045014	HP:0045014	Hypolipidemia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0045014	HP:0045014	Hypolipidemia	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0045014	HP:0045014	Hypolipidemia	0	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	HP:0040283 - Occasional	2
HP:0045014	HP:0045014	Hypolipidemia	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0045014	HP:0012153	Hypotriglyceridemia	1	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0045014	HP:0012153	Hypotriglyceridemia	1	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0045014	HP:0012153	Hypotriglyceridemia	1	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040282 - Frequent	6
HP:0045014	HP:0012153	Hypotriglyceridemia	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0045014	HP:0012153	Hypotriglyceridemia	1	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040282 - Frequent	41
HP:0045014	HP:0012153	Hypotriglyceridemia	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0045014	HP:0012153	Hypotriglyceridemia	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0045014	HP:0012153	Hypotriglyceridemia	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0045014	HP:0012153	Hypotriglyceridemia	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0045014	HP:0012153	Hypotriglyceridemia	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8

Genes (11) :ACOX2 ANGPTL3 APOC3 CCT5 CETP GALNT2 MTTP NGLY1 PCYT1A PNLIP SAR1B

Diseases (11) :OMIM:617308 OMIM:605019 OMIM:614028 ORPHA:79506 OMIM:256840 OMIM:618885 ORPHA:14 ORPHA:404454 ORPHA:85167 OMIM:614338 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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