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 lipid concentration (HP:0003119)

Parent Node:
Hyperlipidemia (HP:0003077)

..Starting node
..Hypertriglyceridemia (HP:0002155)

Term ID:

2155

Name:

Hypertriglyceridemia

Synonym:

Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides

Definition:

An abnormal increase in the level of triglycerides in the blood.

Comments:

Reference:

HP:0002155

Genes and Diseases:

Child Nodes:

........

Lactescent serum (HP:0031028)

Sister Nodes:

Transient hyperlipidemia (HP:0008279)

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:0002155	HP:0002155	Hypertriglyceridemia	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040281 - Very frequent	191
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent	216
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	85
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002155	HP:0002155	Hypertriglyceridemia	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0002155	HP:0002155	Hypertriglyceridemia	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0002155	HP:0002155	Hypertriglyceridemia	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	105
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	HP:0040283 - Occasional	105
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	11
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	48
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0002155	HP:0002155	Hypertriglyceridemia	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0002155	HP:0002155	Hypertriglyceridemia	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002155	HP:0002155	Hypertriglyceridemia	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0002155	HP:0002155	Hypertriglyceridemia	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002155	HP:0002155	Hypertriglyceridemia	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0002155	HP:0002155	Hypertriglyceridemia	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0002155	HP:0002155	Hypertriglyceridemia	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0002155	HP:0002155	Hypertriglyceridemia	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0002155	HP:0002155	Hypertriglyceridemia	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040280 - Obligate	35
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	HP:0040283 - Occasional	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0002155	HP:0002155	Hypertriglyceridemia	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040283 - Occasional	54
HP:0002155	HP:0002155	Hypertriglyceridemia	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002155	HP:0002155	Hypertriglyceridemia	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002155	HP:0002155	Hypertriglyceridemia	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0002155	HP:0002155	Hypertriglyceridemia	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	HP:0040284 - Very rare	1
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional	65
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0002155	HP:0002155	Hypertriglyceridemia	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0002155	HP:0002155	Hypertriglyceridemia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0002155	HP:0002155	Hypertriglyceridemia	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	42
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0002155	HP:0002155	Hypertriglyceridemia	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0002155	HP:0002155	Hypertriglyceridemia	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0002155	HP:0002155	Hypertriglyceridemia	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:0002155	HP:0002155	Hypertriglyceridemia	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0002155	HP:0002155	Hypertriglyceridemia	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:0002155	HP:0002155	Hypertriglyceridemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0002155	HP:0002155	Hypertriglyceridemia	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0002155	HP:0002155	Hypertriglyceridemia	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0002155	HP:0002155	Hypertriglyceridemia	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0002155	HP:0002155	Hypertriglyceridemia	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0002155	HP:0002155	Hypertriglyceridemia	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0002155	HP:0002155	Hypertriglyceridemia	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0002155	HP:0002155	Hypertriglyceridemia	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0002155	HP:0002155	Hypertriglyceridemia	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0002155	HP:0002155	Hypertriglyceridemia	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0002155	HP:0002155	Hypertriglyceridemia	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0002155	HP:0002155	Hypertriglyceridemia	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0002155	HP:0002155	Hypertriglyceridemia	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002155	HP:0031028	Lactescent serum	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106

Genes (87) :ABCA1 ABHD5 ADCY3 AEBP1 AGL AGPAT2 AKT2 ALMS1 APOA5 APOC2 APOE BSCL2 CAV1 CAVIN1 CELA2A CEP19 CIDEC CREB3L3 CYP7A1 DEAF1 DEF6 EMD FARSA FECH FHL1 FLII FOS GK GPD1 GPIHBP1 HAVCR2 IQSEC2 JAG1 LCAT LDLRAP1 LEP LEPR LIPA LIPC LIPE LMF1 LMNA LPL LRP6 LYST MC4R MCM10 MTX2 NSMCE2 PHKA2 PHKB PHKG2 PIGH PIGT PIK3CG PLIN1 PLVAP PNPLA2 POLD1 POLR3A PPARG PRF1 PSMB10 PSMB4 PSMB8 PSMB9 PYGL RAI1 RSPO1 SGPL1 SLC25A13 SLC29A3 SLC2A2 SLC37A4 SLC7A7 SMPD1 STX11 STXBP2 SYNE1 SYNE2 TMEM43 TTPA UNC13D WRN XIAP XRCC4 YARS1

Diseases (106) :OMIM:205400 ORPHA:31150 ORPHA:98907 OMIM:617885 ORPHA:536532 ORPHA:366 ORPHA:528 OMIM:608594 ORPHA:79085 ORPHA:64 OMIM:203800 OMIM:145750 OMIM:207750 ORPHA:412 OMIM:615924 OMIM:269700 ORPHA:363400 OMIM:612526 OMIM:606721 OMIM:613327 OMIM:618620 OMIM:615703 ORPHA:435651 OMIM:615238 OMIM:619324 ORPHA:209902 ORPHA:819 OMIM:619573 ORPHA:98863 OMIM:619013 OMIM:177000 OMIM:307030 OMIM:614480 OMIM:615947 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:246650 ORPHA:79474 ORPHA:98853 ORPHA:98855 ORPHA:280365 OMIM:616516 ORPHA:2348 OMIM:151660 ORPHA:363618 OMIM:238600 OMIM:610947 ORPHA:167 ORPHA:71529 OMIM:619313 OMIM:619127 ORPHA:436182 OMIM:617253 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:613027 OMIM:618010 ORPHA:369837 OMIM:619802 OMIM:613877 ORPHA:280356 OMIM:618183 OMIM:610717 ORPHA:98908 OMIM:615381 ORPHA:3455 OMIM:264090 OMIM:604367 ORPHA:79083 ORPHA:540 OMIM:603553 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:232700 OMIM:182290 OMIM:610644 OMIM:617575 ORPHA:247585 OMIM:603471 OMIM:605814 ORPHA:247598 ORPHA:168569 ORPHA:2088 ORPHA:79259 ORPHA:470 ORPHA:77293 OMIM:607616 OMIM:603552 OMIM:613101 OMIM:277460 OMIM:608898 OMIM:277700 OMIM:300635 OMIM:619418

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