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 metabolism/homeostasis (HP:0001939)

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

..Starting node
..Hyperlipidemia (HP:0003077)

Term ID:

3077

Name:

Hyperlipidemia

Synonym:

Elevated lipids in blood

Definition:

An elevated lipid concentration in the blood.

Comments:

Reference:

HP:0003077

Genes and Diseases:

Child Nodes:

........

Hypertriglyceridemia (HP:0002155)

................... HP:0031028 Lactescent serum

........

Transient hyperlipidemia (HP:0008279)

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)

Hypolipidemia (HP:0045014)

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:0003077	HP:0003077	Hyperlipidemia	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003077	HP:0003077	Hyperlipidemia	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0003077	HP:0003077	Hyperlipidemia	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	67
HP:0003077	HP:0003077	Hyperlipidemia	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	76
HP:0003077	HP:0003077	Hyperlipidemia	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0003077	HP:0003077	Hyperlipidemia	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0003077	HP:0003077	Hyperlipidemia	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0003077	HP:0003077	Hyperlipidemia	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003077	HP:0003077	Hyperlipidemia	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency		216
HP:0003077	HP:0003077	Hyperlipidemia	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0003077	HP:0003077	Hyperlipidemia	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0003077	HP:0003077	Hyperlipidemia	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0003077	HP:0003077	Hyperlipidemia	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0003077	HP:0003077	Hyperlipidemia	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0003077	HP:0003077	Hyperlipidemia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0003077	HP:0003077	Hyperlipidemia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003077	HP:0003077	Hyperlipidemia	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003077	HP:0003077	Hyperlipidemia	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	356
HP:0003077	HP:0003077	Hyperlipidemia	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003077	HP:0003077	Hyperlipidemia	0	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0003077	HP:0003077	Hyperlipidemia	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003077	HP:0003077	Hyperlipidemia	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0003077	HP:0003077	Hyperlipidemia	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0003077	HP:0003077	Hyperlipidemia	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0003077	HP:0003077	Hyperlipidemia	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0003077	HP:0003077	Hyperlipidemia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0003077	HP:0003077	Hyperlipidemia	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0003077	HP:0003077	Hyperlipidemia	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003077	HP:0003077	Hyperlipidemia	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003077	HP:0003077	Hyperlipidemia	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0003077	HP:0003077	Hyperlipidemia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0003077	HP:0003077	Hyperlipidemia	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003077	HP:0003077	Hyperlipidemia	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003077	HP:0003077	Hyperlipidemia	0	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0003077	HP:0003077	Hyperlipidemia	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0003077	HP:0003077	Hyperlipidemia	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0003077	HP:0003077	Hyperlipidemia	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0003077	HP:0003077	Hyperlipidemia	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0003077	HP:0003077	Hyperlipidemia	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0003077	HP:0003077	Hyperlipidemia	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency		99
HP:0003077	HP:0003077	Hyperlipidemia	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0003077	HP:0003077	Hyperlipidemia	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0003077	HP:0003077	Hyperlipidemia	0	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003077	HP:0003077	Hyperlipidemia	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0003077	HP:0003077	Hyperlipidemia	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003077	HP:0003077	Hyperlipidemia	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0003077	HP:0003077	Hyperlipidemia	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0003077	HP:0003077	Hyperlipidemia	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0003077	HP:0003077	Hyperlipidemia	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003077	HP:0003077	Hyperlipidemia	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0003077	HP:0003077	Hyperlipidemia	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003077	HP:0003077	Hyperlipidemia	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003077	HP:0003077	Hyperlipidemia	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0003077	HP:0003077	Hyperlipidemia	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003077	HP:0003077	Hyperlipidemia	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0003077	HP:0003077	Hyperlipidemia	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003077	HP:0003077	Hyperlipidemia	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0003077	HP:0003077	Hyperlipidemia	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0003077	HP:0003077	Hyperlipidemia	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0003077	HP:0003077	Hyperlipidemia	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0003077	HP:0003077	Hyperlipidemia	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile		3
HP:0003077	HP:0003077	Hyperlipidemia	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003077	HP:0003077	Hyperlipidemia	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional	100
HP:0003077	HP:0003077	Hyperlipidemia	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003077	HP:0003077	Hyperlipidemia	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0003077	HP:0003077	Hyperlipidemia	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0003077	HP:0003077	Hyperlipidemia	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003077	HP:0003077	Hyperlipidemia	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003077	HP:0003077	Hyperlipidemia	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	2157
HP:0003077	HP:0003077	Hyperlipidemia	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	73
HP:0003077	HP:0003077	Hyperlipidemia	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0003077	HP:0003077	Hyperlipidemia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0003077	HP:0003077	Hyperlipidemia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0003077	HP:0003077	Hyperlipidemia	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease		73
HP:0003077	HP:0003077	Hyperlipidemia	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003077	HP:0003077	Hyperlipidemia	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003077	HP:0003077	Hyperlipidemia	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003077	HP:0003077	Hyperlipidemia	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0003077	HP:0003077	Hyperlipidemia	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003077	HP:0003077	Hyperlipidemia	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	56
HP:0003077	HP:0003077	Hyperlipidemia	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0003077	HP:0003077	Hyperlipidemia	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent	645
HP:0003077	HP:0003077	Hyperlipidemia	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	.	106
HP:0003077	HP:0003077	Hyperlipidemia	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0003077	HP:0003077	Hyperlipidemia	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0003077	HP:0003077	Hyperlipidemia	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0003077	HP:0003077	Hyperlipidemia	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency		54
HP:0003077	HP:0003077	Hyperlipidemia	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	77
HP:0003077	HP:0003077	Hyperlipidemia	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0003077	HP:0003077	Hyperlipidemia	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003077	HP:0003077	Hyperlipidemia	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0003077	HP:0003077	Hyperlipidemia	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040282 - Frequent	35
HP:0003077	HP:0003077	Hyperlipidemia	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0003077	HP:0003077	Hyperlipidemia	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0003077	HP:0003077	Hyperlipidemia	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		2
HP:0003077	HP:0003077	Hyperlipidemia	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0003077	HP:0003077	Hyperlipidemia	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	178
HP:0003077	HP:0003077	Hyperlipidemia	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0003077	HP:0003077	Hyperlipidemia	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0003077	HP:0003077	Hyperlipidemia	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0003077	HP:0003077	Hyperlipidemia	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0003077	HP:0003077	Hyperlipidemia	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003077	HP:0003077	Hyperlipidemia	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0003077	HP:0003077	Hyperlipidemia	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003077	HP:0003077	Hyperlipidemia	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0003077	HP:0003077	Hyperlipidemia	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0003077	HP:0003077	Hyperlipidemia	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003077	HP:0003077	Hyperlipidemia	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0003077	HP:0003077	Hyperlipidemia	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0003077	HP:0003077	Hyperlipidemia	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0003077	HP:0003077	Hyperlipidemia	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0003077	HP:0003077	Hyperlipidemia	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0003077	HP:0003077	Hyperlipidemia	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0003077	HP:0003077	Hyperlipidemia	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0003077	HP:0003077	Hyperlipidemia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0003077	HP:0003077	Hyperlipidemia	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0003077	HP:0003077	Hyperlipidemia	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0003077	HP:0003077	Hyperlipidemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003077	HP:0003077	Hyperlipidemia	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0003077	HP:0003077	Hyperlipidemia	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0003077	HP:0003077	Hyperlipidemia	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0003077	HP:0003077	Hyperlipidemia	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0003077	HP:0003077	Hyperlipidemia	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0003077	HP:0003077	Hyperlipidemia	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003077	HP:0003077	Hyperlipidemia	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003077	HP:0003077	Hyperlipidemia	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003077	HP:0003077	Hyperlipidemia	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003077	HP:0003077	Hyperlipidemia	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0003077	HP:0003077	Hyperlipidemia	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI	.	71
HP:0003077	HP:0003077	Hyperlipidemia	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0003077	HP:0003077	Hyperlipidemia	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0003077	HP:0003077	Hyperlipidemia	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003077	HP:0003077	Hyperlipidemia	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0003077	HP:0003077	Hyperlipidemia	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0003077	HP:0003077	Hyperlipidemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003077	HP:0003077	Hyperlipidemia	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0003077	HP:0003077	Hyperlipidemia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003077	HP:0003077	Hyperlipidemia	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003077	HP:0003077	Hyperlipidemia	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0003077	HP:0003077	Hyperlipidemia	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0003077	HP:0003077	Hyperlipidemia	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0003077	HP:0003077	Hyperlipidemia	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0003077	HP:0003077	Hyperlipidemia	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003077	HP:0003077	Hyperlipidemia	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003077	HP:0003077	Hyperlipidemia	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0003077	HP:0003077	Hyperlipidemia	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003077	HP:0003077	Hyperlipidemia	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003077	HP:0003077	Hyperlipidemia	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0003077	HP:0003077	Hyperlipidemia	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003077	HP:0003077	Hyperlipidemia	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0003077	HP:0003077	Hyperlipidemia	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0003077	HP:0003077	Hyperlipidemia	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		9
HP:0003077	HP:0003077	Hyperlipidemia	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003077	HP:0003077	Hyperlipidemia	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0003077	HP:0003077	Hyperlipidemia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0003077	HP:0002155	Hypertriglyceridemia	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003077	HP:0002155	Hypertriglyceridemia	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040281 - Very frequent	191
HP:0003077	HP:0002155	Hypertriglyceridemia	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0003077	HP:0002155	Hypertriglyceridemia	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0003077	HP:0002155	Hypertriglyceridemia	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0003077	HP:0002155	Hypertriglyceridemia	1	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent	216
HP:0003077	HP:0002155	Hypertriglyceridemia	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	85
HP:0003077	HP:0002155	Hypertriglyceridemia	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0003077	HP:0002155	Hypertriglyceridemia	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0003077	HP:0002155	Hypertriglyceridemia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0003077	HP:0002155	Hypertriglyceridemia	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0003077	HP:0002155	Hypertriglyceridemia	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0003077	HP:0002155	Hypertriglyceridemia	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003077	HP:0002155	Hypertriglyceridemia	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0003077	HP:0002155	Hypertriglyceridemia	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	105
HP:0003077	HP:0002155	Hypertriglyceridemia	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	HP:0040283 - Occasional	105
HP:0003077	HP:0002155	Hypertriglyceridemia	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0003077	HP:0002155	Hypertriglyceridemia	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	11
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	48
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0003077	HP:0008279	Transient hyperlipidemia	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0003077	HP:0008279	Transient hyperlipidemia	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003077	HP:0002155	Hypertriglyceridemia	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0003077	HP:0002155	Hypertriglyceridemia	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0003077	HP:0002155	Hypertriglyceridemia	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003077	HP:0002155	Hypertriglyceridemia	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0003077	HP:0002155	Hypertriglyceridemia	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003077	HP:0002155	Hypertriglyceridemia	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0003077	HP:0002155	Hypertriglyceridemia	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0003077	HP:0002155	Hypertriglyceridemia	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0003077	HP:0002155	Hypertriglyceridemia	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0003077	HP:0002155	Hypertriglyceridemia	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0003077	HP:0002155	Hypertriglyceridemia	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0003077	HP:0002155	Hypertriglyceridemia	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003077	HP:0002155	Hypertriglyceridemia	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0003077	HP:0002155	Hypertriglyceridemia	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0003077	HP:0002155	Hypertriglyceridemia	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040280 - Obligate	35
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	HP:0040283 - Occasional	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0003077	HP:0002155	Hypertriglyceridemia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0003077	HP:0002155	Hypertriglyceridemia	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040283 - Occasional	54
HP:0003077	HP:0002155	Hypertriglyceridemia	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0003077	HP:0002155	Hypertriglyceridemia	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003077	HP:0002155	Hypertriglyceridemia	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0003077	HP:0002155	Hypertriglyceridemia	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	HP:0040284 - Very rare	1
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional	65
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0003077	HP:0002155	Hypertriglyceridemia	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0003077	HP:0002155	Hypertriglyceridemia	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0003077	HP:0002155	Hypertriglyceridemia	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	42
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003077	HP:0002155	Hypertriglyceridemia	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0003077	HP:0002155	Hypertriglyceridemia	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003077	HP:0002155	Hypertriglyceridemia	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0003077	HP:0002155	Hypertriglyceridemia	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0003077	HP:0002155	Hypertriglyceridemia	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0003077	HP:0002155	Hypertriglyceridemia	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0003077	HP:0002155	Hypertriglyceridemia	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0003077	HP:0002155	Hypertriglyceridemia	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0003077	HP:0002155	Hypertriglyceridemia	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0003077	HP:0002155	Hypertriglyceridemia	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0003077	HP:0002155	Hypertriglyceridemia	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0003077	HP:0002155	Hypertriglyceridemia	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0003077	HP:0002155	Hypertriglyceridemia	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003077	HP:0002155	Hypertriglyceridemia	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0003077	HP:0002155	Hypertriglyceridemia	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0003077	HP:0002155	Hypertriglyceridemia	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0003077	HP:0002155	Hypertriglyceridemia	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003077	HP:0031028	Lactescent serum	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106

Genes (122) :ABCA1 ABCG5 ABCG8 ABHD5 ACTN4 ADCY3 AEBP1 AGL AGPAT2 AKT2 ALB ALMS1 APOA5 APOB APOC2 APOC3 APOE ARMC5 BSCL2 CAV1 CAVIN1 CELA2A CEP19 CETP CFH CFHR1 CFHR3 CIDEC CPT1A CPT2 CREB3L3 CYP19A1 CYP7A1 DCAF17 DEAF1 DEF6 DGAT1 EMD FARSA FECH FHL1 FLII FOS G6PC1 GK GLA GNAS GPD1 GPIHBP1 GYS2 HAVCR2 IQSEC2 JAG1 LCAT LDLR LDLRAP1 LEP LEPR LIPA LIPC LIPE LMAN1 LMF1 LMNA LPL LRP6 LYST MC4R MCFD2 MCM10 MTX2 MYO5A NPHS1 NPHS2 NSMCE2 PCSK9 PDE11A PDE8B PHKA2 PHKB PHKG2 PIGH PIGT PIK3CG PLIN1 PLVAP PNPLA2 POLD1 POLR3A PPARG PRF1 PRKACA PRKAR1A PSMB10 PSMB4 PSMB8 PSMB9 PYGL RAB27A RAI1 RSPO1 SGPL1 SLC25A13 SLC29A3 SLC2A2 SLC37A4 SLC7A7 SMARCAL1 SMPD1 STX11 STXBP2 SYNE1 SYNE2 TFG TMEM43 TTPA UNC13D WRN XIAP XRCC4 YARS1 ZMPSTE24

Diseases (141) :OMIM:205400 ORPHA:31150 ORPHA:391665 ORPHA:98907 OMIM:603278 OMIM:617885 ORPHA:536532 ORPHA:366 OMIM:232400 ORPHA:528 OMIM:608594 ORPHA:79085 ORPHA:86816 ORPHA:64 OMIM:203800 OMIM:145750 OMIM:207750 ORPHA:79506 ORPHA:412 ORPHA:189427 OMIM:615924 OMIM:269700 ORPHA:363400 OMIM:612526 OMIM:606721 OMIM:613327 OMIM:618620 OMIM:615703 OMIM:235400 ORPHA:435651 OMIM:615238 ORPHA:156 OMIM:255120 ORPHA:228308 OMIM:619324 ORPHA:91 ORPHA:209902 ORPHA:3464 OMIM:241080 ORPHA:819 OMIM:619573 OMIM:615863 ORPHA:98863 OMIM:619013 OMIM:177000 OMIM:232200 OMIM:307030 ORPHA:324 OMIM:614480 OMIM:615947 ORPHA:2089 OMIM:618398 OMIM:118450 OMIM:136120 OMIM:245900 OMIM:603813 ORPHA:66628 ORPHA:179494 ORPHA:75234 OMIM:278000 OMIM:614025 ORPHA:140905 ORPHA:435660 OMIM:615980 ORPHA:35909 OMIM:246650 ORPHA:79474 ORPHA:98853 ORPHA:98855 ORPHA:280365 OMIM:616516 ORPHA:2348 OMIM:151660 ORPHA:363618 OMIM:248370 ORPHA:90153 OMIM:144250 OMIM:238600 OMIM:610947 ORPHA:167 ORPHA:71529 OMIM:619313 OMIM:619127 ORPHA:79476 OMIM:256300 OMIM:600995 ORPHA:436182 OMIM:617253 ORPHA:189439 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:613027 OMIM:618010 ORPHA:369837 OMIM:619802 OMIM:613877 ORPHA:280356 OMIM:618183 OMIM:610717 ORPHA:98908 ORPHA:565612 OMIM:615381 ORPHA:3455 OMIM:264090 OMIM:604367 ORPHA:79083 ORPHA:540 OMIM:603553 OMIM:619175 OMIM:617591 OMIM:256040 ORPHA:369 OMIM:232700 ORPHA:79477 OMIM:182290 OMIM:610644 OMIM:617575 ORPHA:247585 OMIM:603471 OMIM:605814 ORPHA:247598 ORPHA:168569 ORPHA:2088 ORPHA:79259 OMIM:232220 OMIM:232240 ORPHA:470 ORPHA:1830 ORPHA:77293 OMIM:607616 OMIM:603552 OMIM:613101 OMIM:604484 OMIM:277460 OMIM:608898 OMIM:277700 OMIM:300635 OMIM:619418 OMIM:608612 ORPHA:90154

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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