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:
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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ABCA1 CL E G H	19	31150				ORPHA	1	993	29	600046
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ABHD5 CL E G H	51099	98907				ORPHA	1	194	21396	604780
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	1774	321	610860
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0002155	HP:0002155	Hypertriglyceridemia	0	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	4321	428	606844
HP:0002155	HP:0002155	Hypertriglyceridemia	0	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	87	609	608083
HP:0002155	HP:0002155	Hypertriglyceridemia	0	APOE CL E G H	348	412				ORPHA	1	136	613	107741
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	363400				ORPHA	1	435	15832	606158
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	115	1527	601047
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CYP7A1 CL E G H	1581	209902				ORPHA	1	108	2651	118455
HP:0002155	HP:0002155	Hypertriglyceridemia	0	DEAF1 CL E G H	10522	819				ORPHA	1	452	14677	602635
HP:0002155	HP:0002155	Hypertriglyceridemia	0	EMD CL E G H	2010	98863				ORPHA	1	618	3331	300384
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FECH CL E G H	2235	177000	Erythropoietic protoporphyria	177000	C0162568	OMIM	1	308	3647	612386
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FHL1 CL E G H	2273	98863				ORPHA	1	517	3702	300163
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FLII CL E G H	2314	819				ORPHA	1	154	3750	600362
HP:0002155	HP:0002155	Hypertriglyceridemia	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0002155	HP:0002155	Hypertriglyceridemia	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	220	4289	300474
HP:0002155	HP:0002155	Hypertriglyceridemia	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	76	4455	138420
HP:0002155	HP:0002155	Hypertriglyceridemia	0	GPIHBP1 CL E G H	338328	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	166	24945	612757
HP:0002155	HP:0002155	Hypertriglyceridemia	0	IQSEC2 CL E G H	23096	819				ORPHA	1	955	29059	300522
HP:0002155	HP:0002155	Hypertriglyceridemia	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1308	6188	601920
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LCAT CL E G H	3931	136120	Fish-eye disease	136120	C0342895	OMIM	1	177	6522	606967
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LCAT CL E G H	3931	245900	Norum disease	245900	C0023195	OMIM	1	177	6522	606967
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LDLRAP1 CL E G H	26119	603813	Hypercholesterolemia, autosomal recessive	603813	C1863512	OMIM	1	363	18640	605747
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LEP CL E G H	3952	66628				ORPHA	1	118	6553	164160
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LEPR CL E G H	3953	179494				ORPHA	1	222	6554	601007
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPA CL E G H	3988	75234	Cholesteryl ester storage disease		C0008384	ORPHA	1	461	6617	613497
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	461	6617	613497
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPC CL E G H	3990	140905				ORPHA	1	176	6619	151670
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMF1 CL E G H	64788	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	437	14154	611761
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	98853				ORPHA	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	98855				ORPHA	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	280365				ORPHA	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	363618				ORPHA	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	NSMCE2 CL E G H	286053	436182				ORPHA	1	86	26513	617246
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	507	8926	300798
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	171	8931	172471
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PLIN1 CL E G H	5346	280356				ORPHA	1	101	9076	170290
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	26	13635	607647
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	443	30802	609059
HP:0002155	HP:0002155	Hypertriglyceridemia	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PPARG CL E G H	5468	79083				ORPHA	1	139	9236	601487
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	139	9236	601487
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	404	9360	170280
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	113	9541	602177
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	16	9546	177045
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	1	265	9725	613741
HP:0002155	HP:0002155	Hypertriglyceridemia	0	RAI1 CL E G H	10743	819				ORPHA	1	1149	9834	607642
HP:0002155	HP:0002155	Hypertriglyceridemia	0	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1149	9834	607642
HP:0002155	HP:0002155	Hypertriglyceridemia	0	RSPO1 CL E G H	284654	610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal	610644	C3149931	OMIM	1	38	21679	609595
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	89	10817	603729
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	525	10983	603859
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	525	10983	603859
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SMPD1 CL E G H	6609	607616	Niemann-Pick disease, type B	607616	C0268243	OMIM	1	747	11120	607608
HP:0002155	HP:0002155	Hypertriglyceridemia	0	STXBP2 CL E G H	6813	613101	Hemophagocytic lymphohistiocytosis, familial, 5	613101	C2751293	OMIM	1	596	11445	601717
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SYNE1 CL E G H	23345	98853				ORPHA	1	4598	17089	608441
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SYNE2 CL E G H	23224	98853				ORPHA	1	2497	17084	608442
HP:0002155	HP:0002155	Hypertriglyceridemia	0	TMEM43 CL E G H	79188	98853				ORPHA	1	740	28472	612048
HP:0002155	HP:0002155	Hypertriglyceridemia	0	TTPA CL E G H	7274	277460	Ataxia with vitamin E deficiency	277460	C1848533	OMIM	1	309	12404	600415
HP:0002155	HP:0002155	Hypertriglyceridemia	0	UNC13D CL E G H	201294	608898	Hemophagocytic lymphohistiocytosis, familial, 3	608898	C1837174	OMIM	1	841	23147	608897
HP:0002155	HP:0002155	Hypertriglyceridemia	0	XRCC4 CL E G H	7518	436182				ORPHA	1	86	12831	194363
HP:0002155	HP:0031028	Lactescent serum	1	ABCA1 CL E G H	19	31150				ORPHA	1	993	29	600046
HP:0002155	HP:0031028	Lactescent serum	1	ABHD5 CL E G H	51099	98907				ORPHA	1	194	21396	604780
HP:0002155	HP:0031028	Lactescent serum	1	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	1774	321	610860
HP:0002155	HP:0031028	Lactescent serum	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0002155	HP:0031028	Lactescent serum	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0002155	HP:0031028	Lactescent serum	1	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0002155	HP:0031028	Lactescent serum	1	ALMS1 CL E G H	7840	64				ORPHA	1	4321	428	606844
HP:0002155	HP:0031028	Lactescent serum	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	4321	428	606844
HP:0002155	HP:0031028	Lactescent serum	1	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	87	609	608083
HP:0002155	HP:0031028	Lactescent serum	1	APOE CL E G H	348	412				ORPHA	1	136	613	107741
HP:0002155	HP:0031028	Lactescent serum	1	BSCL2 CL E G H	26580	363400				ORPHA	1	435	15832	606158
HP:0002155	HP:0031028	Lactescent serum	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0002155	HP:0031028	Lactescent serum	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0002155	HP:0031028	Lactescent serum	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0002155	HP:0031028	Lactescent serum	1	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	115	1527	601047
HP:0002155	HP:0031028	Lactescent serum	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0002155	HP:0031028	Lactescent serum	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0002155	HP:0031028	Lactescent serum	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0002155	HP:0031028	Lactescent serum	1	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0002155	HP:0031028	Lactescent serum	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0002155	HP:0031028	Lactescent serum	1	CYP7A1 CL E G H	1581	209902				ORPHA	1	108	2651	118455
HP:0002155	HP:0031028	Lactescent serum	1	DEAF1 CL E G H	10522	819				ORPHA	1	452	14677	602635
HP:0002155	HP:0031028	Lactescent serum	1	EMD CL E G H	2010	98863				ORPHA	1	618	3331	300384
HP:0002155	HP:0031028	Lactescent serum	1	FECH CL E G H	2235	177000	Erythropoietic protoporphyria	177000	C0162568	OMIM	1	308	3647	612386
HP:0002155	HP:0031028	Lactescent serum	1	FHL1 CL E G H	2273	98863				ORPHA	1	517	3702	300163
HP:0002155	HP:0031028	Lactescent serum	1	FLII CL E G H	2314	819				ORPHA	1	154	3750	600362
HP:0002155	HP:0031028	Lactescent serum	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0002155	HP:0031028	Lactescent serum	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	220	4289	300474
HP:0002155	HP:0031028	Lactescent serum	1	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	76	4455	138420
HP:0002155	HP:0031028	Lactescent serum	1	GPIHBP1 CL E G H	338328	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	166	24945	612757
HP:0002155	HP:0031028	Lactescent serum	1	IQSEC2 CL E G H	23096	819				ORPHA	1	955	29059	300522
HP:0002155	HP:0031028	Lactescent serum	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1308	6188	601920
HP:0002155	HP:0031028	Lactescent serum	1	LCAT CL E G H	3931	136120	Fish-eye disease	136120	C0342895	OMIM	1	177	6522	606967
HP:0002155	HP:0031028	Lactescent serum	1	LCAT CL E G H	3931	245900	Norum disease	245900	C0023195	OMIM	1	177	6522	606967
HP:0002155	HP:0031028	Lactescent serum	1	LDLRAP1 CL E G H	26119	603813	Hypercholesterolemia, autosomal recessive	603813	C1863512	OMIM	1	363	18640	605747
HP:0002155	HP:0031028	Lactescent serum	1	LEP CL E G H	3952	66628				ORPHA	1	118	6553	164160
HP:0002155	HP:0031028	Lactescent serum	1	LEPR CL E G H	3953	179494				ORPHA	1	222	6554	601007
HP:0002155	HP:0031028	Lactescent serum	1	LIPA CL E G H	3988	75234	Cholesteryl ester storage disease		C0008384	ORPHA	1	461	6617	613497
HP:0002155	HP:0031028	Lactescent serum	1	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	461	6617	613497
HP:0002155	HP:0031028	Lactescent serum	1	LIPC CL E G H	3990	140905				ORPHA	1	176	6619	151670
HP:0002155	HP:0031028	Lactescent serum	1	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0002155	HP:0031028	Lactescent serum	1	LMF1 CL E G H	64788	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	437	14154	611761
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	98853				ORPHA	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	98855				ORPHA	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	280365				ORPHA	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	363618				ORPHA	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	NSMCE2 CL E G H	286053	436182				ORPHA	1	86	26513	617246
HP:0002155	HP:0031028	Lactescent serum	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	507	8926	300798
HP:0002155	HP:0031028	Lactescent serum	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	171	8931	172471
HP:0002155	HP:0031028	Lactescent serum	1	PLIN1 CL E G H	5346	280356				ORPHA	1	101	9076	170290
HP:0002155	HP:0031028	Lactescent serum	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0002155	HP:0031028	Lactescent serum	1	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	26	13635	607647
HP:0002155	HP:0031028	Lactescent serum	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	443	30802	609059
HP:0002155	HP:0031028	Lactescent serum	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0002155	HP:0031028	Lactescent serum	1	PPARG CL E G H	5468	79083				ORPHA	1	139	9236	601487
HP:0002155	HP:0031028	Lactescent serum	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0002155	HP:0031028	Lactescent serum	1	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	139	9236	601487
HP:0002155	HP:0031028	Lactescent serum	1	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	404	9360	170280
HP:0002155	HP:0031028	Lactescent serum	1	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	113	9541	602177
HP:0002155	HP:0031028	Lactescent serum	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0002155	HP:0031028	Lactescent serum	1	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	16	9546	177045
HP:0002155	HP:0031028	Lactescent serum	1	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	1	265	9725	613741
HP:0002155	HP:0031028	Lactescent serum	1	RAI1 CL E G H	10743	819				ORPHA	1	1149	9834	607642
HP:0002155	HP:0031028	Lactescent serum	1	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1149	9834	607642
HP:0002155	HP:0031028	Lactescent serum	1	RSPO1 CL E G H	284654	610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal	610644	C3149931	OMIM	1	38	21679	609595
HP:0002155	HP:0031028	Lactescent serum	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	89	10817	603729
HP:0002155	HP:0031028	Lactescent serum	1	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	525	10983	603859
HP:0002155	HP:0031028	Lactescent serum	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	525	10983	603859
HP:0002155	HP:0031028	Lactescent serum	1	SMPD1 CL E G H	6609	607616	Niemann-Pick disease, type B	607616	C0268243	OMIM	1	747	11120	607608
HP:0002155	HP:0031028	Lactescent serum	1	STXBP2 CL E G H	6813	613101	Hemophagocytic lymphohistiocytosis, familial, 5	613101	C2751293	OMIM	1	596	11445	601717
HP:0002155	HP:0031028	Lactescent serum	1	SYNE1 CL E G H	23345	98853				ORPHA	1	4598	17089	608441
HP:0002155	HP:0031028	Lactescent serum	1	SYNE2 CL E G H	23224	98853				ORPHA	1	2497	17084	608442
HP:0002155	HP:0031028	Lactescent serum	1	TMEM43 CL E G H	79188	98853				ORPHA	1	740	28472	612048
HP:0002155	HP:0031028	Lactescent serum	1	TTPA CL E G H	7274	277460	Ataxia with vitamin E deficiency	277460	C1848533	OMIM	1	309	12404	600415
HP:0002155	HP:0031028	Lactescent serum	1	UNC13D CL E G H	201294	608898	Hemophagocytic lymphohistiocytosis, familial, 3	608898	C1837174	OMIM	1	841	23147	608897
HP:0002155	HP:0031028	Lactescent serum	1	XRCC4 CL E G H	7518	436182				ORPHA	1	86	12831	194363
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002155	HP:0002155	Hypertriglyceridemia	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	0	435	15832	606158
HP:0002155	HP:0002155	Hypertriglyceridemia	0	CEP19 CL E G H	84984	615703	Morbid obesity and spermatogenic failure	615703	C3810324	OMIM	0	177	28209	615586
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	0	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	0	1622	6636	150330
HP:0002155	HP:0002155	Hypertriglyceridemia	0	MC4R CL E G H	4160	71529				ORPHA	0	203	6932	155541
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	0	18	8964	600154
HP:0002155	HP:0002155	Hypertriglyceridemia	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	0	443	30802	609059
HP:0002155	HP:0002155	Hypertriglyceridemia	0	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	0	785	30074	614258
HP:0002155	HP:0002155	Hypertriglyceridemia	0	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0002155	HP:0002155	Hypertriglyceridemia	0	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	277	11429	605014
HP:0002155	HP:0002155	Hypertriglyceridemia	0	XIAP CL E G H	331	300635	Lymphoproliferative syndrome 2, X-linked	300635	C1845076	OMIM	0	454	592	300079
HP:0002155	HP:0002155	Hypertriglyceridemia	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	0	176	12877	606480
HP:0002155	HP:0031028	Lactescent serum	1	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	0	435	15832	606158
HP:0002155	HP:0031028	Lactescent serum	1	CEP19 CL E G H	84984	615703	Morbid obesity and spermatogenic failure	615703	C3810324	OMIM	0	177	28209	615586
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	0	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	0	1622	6636	150330
HP:0002155	HP:0031028	Lactescent serum	1	MC4R CL E G H	4160	71529				ORPHA	0	203	6932	155541
HP:0002155	HP:0031028	Lactescent serum	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	0	18	8964	600154
HP:0002155	HP:0031028	Lactescent serum	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	0	443	30802	609059
HP:0002155	HP:0031028	Lactescent serum	1	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	0	785	30074	614258
HP:0002155	HP:0031028	Lactescent serum	1	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0002155	HP:0031028	Lactescent serum	1	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	277	11429	605014
HP:0002155	HP:0031028	Lactescent serum	1	XIAP CL E G H	331	300635	Lymphoproliferative syndrome 2, X-linked	300635	C1845076	OMIM	0	454	592	300079
HP:0002155	HP:0031028	Lactescent serum	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	0	176	12877	606480

Genes (67) :ABCA1 ABHD5 AGL AGPAT2 AKT2 ALMS1 APOC2 APOE BSCL2 CAV1 CAVIN1 CEP19 CIDEC CYP7A1 DEAF1 EMD FECH FHL1 FLII FOS GK GPD1 GPIHBP1 IQSEC2 JAG1 LCAT LDLRAP1 LEP LEPR LIPA LIPC LIPE LMF1 LMNA LPL MC4R NSMCE2 PHKA2 PHKG2 PIGH PLIN1 PLVAP PNPLA2 POLD1 POLR3A PPARG PRF1 PSMB4 PSMB8 PSMB9 PYGL RAI1 RSPO1 SGPL1 SLC25A13 SLC29A3 SMPD1 STX11 STXBP2 SYNE1 SYNE2 TMEM43 TTPA UNC13D XIAP XRCC4 ZMPSTE24

Diseases (76) :31150 98907 366 528 608594 79085 64 203800 207750 412 363400 269700 615924 612526 606721 613327 615703 435651 615238 209902 819 98863 177000 307030 614480 444490 118450 136120 245900 603813 66628 179494 75234 278000 140905 435660 363618 79474 280365 98855 98853 2348 740 616516 151660 71529 436182 306000 613027 618010 280356 613877 618183 98908 610717 615381 264090 79083 604367 603553 617591 256040 232700 182290 610644 617575 603471 605814 168569 607616 603552 613101 277460 608898 300635 238600

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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