Human Phenotype Ontology

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:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1		27
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency		216
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy		12
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency		6
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040283 - Occasional	125
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency		41
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1		86
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency		99
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3		7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency		23
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile		3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency		100
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease		12
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease		73
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.	7
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy		645
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency		54
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1		5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1		35
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1		241
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency		75
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B		72
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency		5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency		71
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	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:0003119	HP:0003119	Abnormal circulating lipid concentration	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease		8
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent	13
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1		52
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		9
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0003119	HP:0003119	Abnormal circulating lipid concentration	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0003119	HP:0032657	Elevated circulating lyso-globotriaosylsphingosine concentration	1	CL E G H
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0003119	HP:0003077	Hyperlipidemia	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0003077	Hyperlipidemia	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040282 - Frequent	135
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0003119	HP:0003077	Hyperlipidemia	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	67
HP:0003119	HP:0033341	Elevated circulating sitosterol concentration	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0003119	HP:0003077	Hyperlipidemia	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	76
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0003119	HP:0033341	Elevated circulating sitosterol concentration	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0003119	HP:0008158	Hyperapobetalipoproteinemia	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0003119	HP:0003077	Hyperlipidemia	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0045014	Hypolipidemia	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0003119	HP:0003077	Hyperlipidemia	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0003119	HP:0003077	Hyperlipidemia	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0003119	HP:0003077	Hyperlipidemia	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003119	HP:0003077	Hyperlipidemia	1	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency		216
HP:0003119	HP:0003077	Hyperlipidemia	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0003119	HP:0003077	Hyperlipidemia	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0003119	HP:0003077	Hyperlipidemia	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0003119	HP:0003077	Hyperlipidemia	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0003119	HP:0003077	Hyperlipidemia	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003119	HP:0003077	Hyperlipidemia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003119	HP:0003077	Hyperlipidemia	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0045014	Hypolipidemia	1	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0003077	Hyperlipidemia	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0003119	HP:0003077	Hyperlipidemia	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	356
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0003077	Hyperlipidemia	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0045014	Hypolipidemia	1	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0045014	Hypolipidemia	1	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency		6
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency		6
HP:0003119	HP:0003077	Hyperlipidemia	1	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0003119	HP:0003077	Hyperlipidemia	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0003119	HP:0003077	Hyperlipidemia	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0003119	HP:0003077	Hyperlipidemia	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0003119	HP:0003077	Hyperlipidemia	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy		105
HP:0003119	HP:0003077	Hyperlipidemia	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0003119	HP:0003077	Hyperlipidemia	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0003119	HP:0003077	Hyperlipidemia	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0003119	HP:0003077	Hyperlipidemia	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003119	HP:0003077	Hyperlipidemia	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0003119	HP:0003077	Hyperlipidemia	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0003119	HP:0003077	Hyperlipidemia	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0045014	Hypolipidemia	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0003119	HP:0003077	Hyperlipidemia	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0003077	Hyperlipidemia	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0045014	Hypolipidemia	1	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency		41
HP:0003119	HP:0003077	Hyperlipidemia	1	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency		41
HP:0003119	HP:0003077	Hyperlipidemia	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0003119	HP:0003077	Hyperlipidemia	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0003119	HP:0003077	Hyperlipidemia	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0003119	HP:0003077	Hyperlipidemia	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0003119	HP:0003077	Hyperlipidemia	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0003077	Hyperlipidemia	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency		99
HP:0003119	HP:0003077	Hyperlipidemia	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0003119	HP:0003077	Hyperlipidemia	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0003077	Hyperlipidemia	1	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0003119	HP:0003077	Hyperlipidemia	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003119	HP:0003077	Hyperlipidemia	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003119	HP:0003077	Hyperlipidemia	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0003119	HP:0003077	Hyperlipidemia	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0003119	HP:0003077	Hyperlipidemia	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0003119	HP:0003077	Hyperlipidemia	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003119	HP:0003077	Hyperlipidemia	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3		7
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003119	HP:0003077	Hyperlipidemia	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0003077	Hyperlipidemia	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003119	HP:0033083	Increased circulating farnesol concentration	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0003077	Hyperlipidemia	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0003119	HP:0003077	Hyperlipidemia	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0003119	HP:0003077	Hyperlipidemia	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0003119	HP:0003077	Hyperlipidemia	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003119	HP:0003077	Hyperlipidemia	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency		23
HP:0003119	HP:0045014	Hypolipidemia	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0003119	HP:0003077	Hyperlipidemia	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0003119	HP:0003077	Hyperlipidemia	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0003119	HP:0003077	Hyperlipidemia	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0003119	HP:0003077	Hyperlipidemia	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile		3
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0003077	Hyperlipidemia	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0003077	Hyperlipidemia	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040283 - Occasional	100
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003119	HP:0003077	Hyperlipidemia	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0003119	HP:0003077	Hyperlipidemia	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0003119	HP:0003077	Hyperlipidemia	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003119	HP:0003077	Hyperlipidemia	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0003119	HP:0003077	Hyperlipidemia	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003119	HP:0003077	Hyperlipidemia	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	2157
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0003119	HP:0003077	Hyperlipidemia	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	73
HP:0003119	HP:0003077	Hyperlipidemia	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0003119	HP:0003077	Hyperlipidemia	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0003119	HP:0003077	Hyperlipidemia	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease		73
HP:0003119	HP:0003077	Hyperlipidemia	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease		73
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0003077	Hyperlipidemia	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0003077	Hyperlipidemia	1	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0003077	Hyperlipidemia	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003119	HP:0003077	Hyperlipidemia	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0003119	HP:0003077	Hyperlipidemia	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003119	HP:0003077	Hyperlipidemia	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	56
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0003077	Hyperlipidemia	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003119	HP:0003077	Hyperlipidemia	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent	645
HP:0003119	HP:0003077	Hyperlipidemia	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	.	106
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0003077	Hyperlipidemia	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003119	HP:0003077	Hyperlipidemia	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0003119	HP:0003077	Hyperlipidemia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0003119	HP:0003077	Hyperlipidemia	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency		54
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0003077	Hyperlipidemia	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040284 - Very rare	77
HP:0003119	HP:0003077	Hyperlipidemia	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1		5
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003119	HP:0045014	Hypolipidemia	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0003077	Hyperlipidemia	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003119	HP:0003077	Hyperlipidemia	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0003119	HP:0003077	Hyperlipidemia	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040282 - Frequent	35
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003119	HP:0045014	Hypolipidemia	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003119	HP:0003077	Hyperlipidemia	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0003119	HP:0003077	Hyperlipidemia	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003119	HP:0003077	Hyperlipidemia	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		2
HP:0003119	HP:0003077	Hyperlipidemia	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0003119	HP:0003077	Hyperlipidemia	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	178
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0003119	HP:0045014	Hypolipidemia	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0003119	HP:0003077	Hyperlipidemia	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0003119	HP:0003077	Hyperlipidemia	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency		75
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B		72
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0003119	HP:0003077	Hyperlipidemia	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0003119	HP:0003077	Hyperlipidemia	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0003119	HP:0003077	Hyperlipidemia	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003119	HP:0003077	Hyperlipidemia	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0003119	HP:0003077	Hyperlipidemia	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0003119	HP:0003077	Hyperlipidemia	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17		1
HP:0003119	HP:0003077	Hyperlipidemia	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0003119	HP:0003077	Hyperlipidemia	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0040176	Abnormal circulating phospholipid concentration	1	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency		5
HP:0003119	HP:0003077	Hyperlipidemia	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0003119	HP:0003077	Hyperlipidemia	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0003119	HP:0003077	Hyperlipidemia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0003119	HP:0045014	Hypolipidemia	1	PNLIP CL E G H	5406	9155	OMIM:614338	Pancreatic lipase deficiency	HP:0040283 - Occasional	2
HP:0003119	HP:0003077	Hyperlipidemia	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0003119	HP:0003077	Hyperlipidemia	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0003119	HP:0003077	Hyperlipidemia	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0003119	HP:0003077	Hyperlipidemia	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		731
HP:0003119	HP:0003077	Hyperlipidemia	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0003119	HP:0003077	Hyperlipidemia	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0003119	HP:0003077	Hyperlipidemia	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003119	HP:0003077	Hyperlipidemia	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003119	HP:0003077	Hyperlipidemia	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0003119	HP:0003077	Hyperlipidemia	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0003119	HP:0003077	Hyperlipidemia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0003119	HP:0003077	Hyperlipidemia	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0003119	HP:0003077	Hyperlipidemia	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0003119	HP:0003077	Hyperlipidemia	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003119	HP:0003077	Hyperlipidemia	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0003077	Hyperlipidemia	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0003077	Hyperlipidemia	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0003119	HP:0003077	Hyperlipidemia	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0003119	HP:0003077	Hyperlipidemia	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI	.	71
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0003119	HP:0003077	Hyperlipidemia	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0003119	HP:0003077	Hyperlipidemia	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0003119	HP:0003077	Hyperlipidemia	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	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:0003119	HP:0003077	Hyperlipidemia	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:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0003119	HP:0045014	Hypolipidemia	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease		8
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0003119	HP:0003077	Hyperlipidemia	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0003119	HP:0003077	Hyperlipidemia	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:0003119	HP:0003077	Hyperlipidemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0003077	Hyperlipidemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0003077	Hyperlipidemia	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0003119	HP:0003077	Hyperlipidemia	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0003077	Hyperlipidemia	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0003077	Hyperlipidemia	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0003119	HP:0003077	Hyperlipidemia	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0003119	HP:0003077	Hyperlipidemia	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0003119	HP:0003077	Hyperlipidemia	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003119	HP:0003077	Hyperlipidemia	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003119	HP:0003077	Hyperlipidemia	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1		52
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1		52
HP:0003119	HP:0003077	Hyperlipidemia	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003119	HP:0003077	Hyperlipidemia	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003119	HP:0003077	Hyperlipidemia	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003119	HP:0003107	Abnormal circulating cholesterol concentration	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003119	HP:0004359	Abnormal circulating fatty-acid concentration	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0003119	HP:0003077	Hyperlipidemia	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0003119	HP:0003077	Hyperlipidemia	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003119	HP:0003077	Hyperlipidemia	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0003119	HP:0003077	Hyperlipidemia	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0003119	HP:0003077	Hyperlipidemia	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		9
HP:0003119	HP:0003077	Hyperlipidemia	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003119	HP:0003077	Hyperlipidemia	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0003119	HP:0003077	Hyperlipidemia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0003119	HP:0033626	Increased non-HDL cholesterol concentration	2	CL E G H
HP:0003119	HP:0032193	Decreased low-density lipoprotein particle size	2	CL E G H
HP:0003119	HP:0033147	Abnormal circulating short-chain fatty-acid concentration	2	CL E G H
HP:0003119	HP:0020158	Increased circulating adrenic acid concentration	2	CL E G H
HP:0003119	HP:0031211	Elevated cholesterol ester level	2	CL E G H
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0003146	Hypocholesterolemia	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040281 - Very frequent	191
HP:0003119	HP:0002155	Hypertriglyceridemia	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0002155	Hypertriglyceridemia	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040281 - Very frequent	191
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0003119	HP:0003124	Hypercholesterolemia	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional	111
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0003119	HP:0003124	Hypercholesterolemia	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	67
HP:0003119	HP:0003124	Hypercholesterolemia	2	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0003119	HP:0003124	Hypercholesterolemia	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	76
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0003119	HP:0003124	Hypercholesterolemia	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0003119	HP:0002155	Hypertriglyceridemia	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0002155	Hypertriglyceridemia	2	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0003119	HP:0002155	Hypertriglyceridemia	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0003119	HP:0002155	Hypertriglyceridemia	2	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent	216
HP:0003119	HP:0003124	Hypercholesterolemia	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0003119	HP:0002155	Hypertriglyceridemia	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	85
HP:0003119	HP:0002155	Hypertriglyceridemia	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0003119	HP:0002155	Hypertriglyceridemia	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0003119	HP:0003124	Hypercholesterolemia	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0003124	Hypercholesterolemia	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0003119	HP:0003146	Hypocholesterolemia	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003119	HP:0002155	Hypertriglyceridemia	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent	404
HP:0003119	HP:0002155	Hypertriglyceridemia	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003119	HP:0012153	Hypotriglyceridemia	2	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0033643	Increased circulating very long-chain fatty acid concentration	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0002155	Hypertriglyceridemia	2	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003119	HP:0003124	Hypercholesterolemia	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	356
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0003124	Hypercholesterolemia	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0003146	Hypocholesterolemia	2	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0003124	Hypercholesterolemia	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0002155	Hypertriglyceridemia	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0012153	Hypotriglyceridemia	2	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency		6
HP:0003119	HP:0012153	Hypotriglyceridemia	2	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040282 - Frequent	6
HP:0003119	HP:0003124	Hypercholesterolemia	2	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0003124	Hypercholesterolemia	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0003119	HP:0002155	Hypertriglyceridemia	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0003119	HP:0003124	Hypercholesterolemia	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0003119	HP:0003146	Hypocholesterolemia	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0003119	HP:0003124	Hypercholesterolemia	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003119	HP:0002155	Hypertriglyceridemia	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	105
HP:0003119	HP:0003124	Hypercholesterolemia	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0003119	HP:0002155	Hypertriglyceridemia	2	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	HP:0040283 - Occasional	105
HP:0003119	HP:0002155	Hypertriglyceridemia	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0003119	HP:0002155	Hypertriglyceridemia	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	11
HP:0003119	HP:0003124	Hypercholesterolemia	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0003119	HP:0003124	Hypercholesterolemia	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0003119	HP:0003124	Hypercholesterolemia	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0003119	HP:0003124	Hypercholesterolemia	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	48
HP:0003119	HP:0003124	Hypercholesterolemia	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0003124	Hypercholesterolemia	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0012153	Hypotriglyceridemia	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0003124	Hypercholesterolemia	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency		41
HP:0003119	HP:0012153	Hypotriglyceridemia	2	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040282 - Frequent	41
HP:0003119	HP:0003124	Hypercholesterolemia	2	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0003119	HP:0003124	Hypercholesterolemia	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0008279	Transient hyperlipidemia	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent	99
HP:0003119	HP:0008279	Transient hyperlipidemia	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0003124	Hypercholesterolemia	2	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003119	HP:0003124	Hypercholesterolemia	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0003119	HP:0002155	Hypertriglyceridemia	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003119	HP:0003124	Hypercholesterolemia	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0003119	HP:0002155	Hypertriglyceridemia	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0003119	HP:0002155	Hypertriglyceridemia	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003119	HP:0003124	Hypercholesterolemia	2	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0003119	HP:0010569	Elevated 7-dehydrocholesterol	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0003119	HP:0010569	Elevated 7-dehydrocholesterol	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003119	HP:0003146	Hypocholesterolemia	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003119	HP:0003124	Hypercholesterolemia	2	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0003119	HP:0003124	Hypercholesterolemia	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003119	HP:0003124	Hypercholesterolemia	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003119	HP:0003124	Hypercholesterolemia	2	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0003119	HP:0003462	Elevated 8-dehydrocholesterol	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0003119	HP:0003465	Elevated 8(9)-cholestenol	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0003119	HP:0003465	Elevated 8(9)-cholestenol	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040281 - Very frequent	51
HP:0003119	HP:0003462	Elevated 8-dehydrocholesterol	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040281 - Very frequent	51
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0003119	HP:0002155	Hypertriglyceridemia	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0002155	Hypertriglyceridemia	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0003146	Hypocholesterolemia	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0002155	Hypertriglyceridemia	2	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003119	HP:0002155	Hypertriglyceridemia	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0003119	HP:0003146	Hypocholesterolemia	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0003119	HP:0003124	Hypercholesterolemia	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0003119	HP:0002155	Hypertriglyceridemia	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0003119	HP:0002155	Hypertriglyceridemia	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0003119	HP:0003124	Hypercholesterolemia	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0003119	HP:0003124	Hypercholesterolemia	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare	23
HP:0003119	HP:0012153	Hypotriglyceridemia	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0003119	HP:0003124	Hypercholesterolemia	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional	98
HP:0003119	HP:0002155	Hypertriglyceridemia	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0003119	HP:0002155	Hypertriglyceridemia	2	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0003119	HP:0002155	Hypertriglyceridemia	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003119	HP:0002155	Hypertriglyceridemia	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0003119	HP:0033643	Increased circulating very long-chain fatty acid concentration	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0003119	HP:0003146	Hypocholesterolemia	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0003119	HP:0003124	Hypercholesterolemia	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003119	HP:0003124	Hypercholesterolemia	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0003119	HP:0002155	Hypertriglyceridemia	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0003119	HP:0003124	Hypercholesterolemia	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003119	HP:0002155	Hypertriglyceridemia	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003119	HP:0011022	Abnormal circulating unsaturated fatty acid concentration	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0003119	HP:0003124	Hypercholesterolemia	2	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003119	HP:0003124	Hypercholesterolemia	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	2157
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0003119	HP:0003124	Hypercholesterolemia	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	73
HP:0003119	HP:0003124	Hypercholesterolemia	2	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	HP:0040280 - Obligate	73
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0003119	HP:0003124	Hypercholesterolemia	2	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0003124	Hypercholesterolemia	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0003124	Hypercholesterolemia	2	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040280 - Obligate	35
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	HP:0040283 - Occasional	645
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0003124	Hypercholesterolemia	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0003124	Hypercholesterolemia	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0003119	HP:0003124	Hypercholesterolemia	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003119	HP:0003124	Hypercholesterolemia	2	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	.	106
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003119	HP:0003124	Hypercholesterolemia	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003119	HP:0011022	Abnormal circulating unsaturated fatty acid concentration	2	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0003119	HP:0002155	Hypertriglyceridemia	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0003119	HP:0002155	Hypertriglyceridemia	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040283 - Occasional	54
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0002155	Hypertriglyceridemia	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0003119	HP:0003124	Hypercholesterolemia	2	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1	.	5
HP:0003119	HP:0003124	Hypercholesterolemia	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003119	HP:0003124	Hypercholesterolemia	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0003146	Hypocholesterolemia	2	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0003146	Hypocholesterolemia	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0003119	HP:0012153	Hypotriglyceridemia	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003119	HP:0002155	Hypertriglyceridemia	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003119	HP:0003124	Hypercholesterolemia	2	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0003119	HP:0012153	Hypotriglyceridemia	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003119	HP:0003462	Elevated 8-dehydrocholesterol	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003119	HP:0003465	Elevated 8(9)-cholestenol	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003119	HP:0002155	Hypertriglyceridemia	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0003119	HP:0002155	Hypertriglyceridemia	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0003119	HP:0003124	Hypercholesterolemia	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0003119	HP:0003124	Hypercholesterolemia	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0003119	HP:0003124	Hypercholesterolemia	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0003119	HP:0003124	Hypercholesterolemia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0003119	HP:0003124	Hypercholesterolemia	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	178
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0003119	HP:0003124	Hypercholesterolemia	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0003119	HP:0012153	Hypotriglyceridemia	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency		75
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0003119	HP:0003146	Hypocholesterolemia	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B		72
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0003119	HP:0003124	Hypercholesterolemia	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0003119	HP:0003124	Hypercholesterolemia	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003119	HP:0003124	Hypercholesterolemia	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0003119	HP:0003124	Hypercholesterolemia	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003119	HP:0010964	Abnormal circulating long-chain fatty-acid concentration	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	HP:0040284 - Very rare	1
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003119	HP:0003124	Hypercholesterolemia	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0003119	HP:0011022	Abnormal circulating unsaturated fatty acid concentration	2	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0040177	Abnormal level of platelet-activating factor	2	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency		5
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0003119	HP:0003146	Hypocholesterolemia	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional	65
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0003119	HP:0002155	Hypertriglyceridemia	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0003119	HP:0002155	Hypertriglyceridemia	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0003119	HP:0002155	Hypertriglyceridemia	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0003119	HP:0003124	Hypercholesterolemia	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent	42
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0003119	HP:0003146	Hypocholesterolemia	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0003119	HP:0002155	Hypertriglyceridemia	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0003119	HP:0003124	Hypercholesterolemia	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0003119	HP:0003124	Hypercholesterolemia	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003119	HP:0002155	Hypertriglyceridemia	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003119	HP:0002155	Hypertriglyceridemia	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0003119	HP:0003124	Hypercholesterolemia	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0003119	HP:0002155	Hypertriglyceridemia	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0003119	HP:0003124	Hypercholesterolemia	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0003119	HP:0003124	Hypercholesterolemia	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003119	HP:0003124	Hypercholesterolemia	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0003119	HP:0012153	Hypotriglyceridemia	2	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0003146	Hypocholesterolemia	2	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0003146	Hypocholesterolemia	2	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040280 - Obligate	8
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003119	HP:0003124	Hypercholesterolemia	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.	8
HP:0003119	HP:0011022	Abnormal circulating unsaturated fatty acid concentration	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0003119	HP:0003124	Hypercholesterolemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0003119	HP:0003124	Hypercholesterolemia	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0003119	HP:0003124	Hypercholesterolemia	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional	71
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0003119	HP:0003124	Hypercholesterolemia	2	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:0003119	HP:0002155	Hypertriglyceridemia	2	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:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003119	HP:0003124	Hypercholesterolemia	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0003119	HP:0002155	Hypertriglyceridemia	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0003119	HP:0002155	Hypertriglyceridemia	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0003119	HP:0002155	Hypertriglyceridemia	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0003119	HP:0002155	Hypertriglyceridemia	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003119	HP:0002155	Hypertriglyceridemia	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0003119	HP:0003124	Hypercholesterolemia	2	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8	.	1
HP:0003119	HP:0003124	Hypercholesterolemia	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0003119	HP:0003124	Hypercholesterolemia	2	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0003124	Hypercholesterolemia	2	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0002155	Hypertriglyceridemia	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0003119	HP:0010966	Abnormal circulating fatty-acid anion concentration	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003119	HP:0003124	Hypercholesterolemia	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0003119	HP:0003124	Hypercholesterolemia	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003119	HP:0002155	Hypertriglyceridemia	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003119	HP:0003124	Hypercholesterolemia	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0003119	HP:0003146	Hypocholesterolemia	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003119	HP:0010979	Abnormality of lipoprotein cholesterol concentration	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003119	HP:0040300	Abnormal circulating free fatty acid concentration	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0003119	HP:0002155	Hypertriglyceridemia	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0003119	HP:0002155	Hypertriglyceridemia	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003119	HP:0002155	Hypertriglyceridemia	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0003119	HP:0002155	Hypertriglyceridemia	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0003119	HP:0002155	Hypertriglyceridemia	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0003119	HP:0002155	Hypertriglyceridemia	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003119	HP:0033148	Increased circulating isovaleric acid concentration	3	CL E G H
HP:0003119	HP:0040179	Decreased level of platelet-activating factor	3	CL E G H
HP:0003119	HP:0020197	Increased circulating arachidonic acid concentration	3	CL E G H
HP:0003119	HP:0034448	Abnormal phytanic acid:pristanic acid ratio	3	CL E G H
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0003119	HP:0010981	Hypolipoproteinemia	3	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0003119	HP:0010981	Hypolipoproteinemia	3	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0003119	HP:0010981	Hypolipoproteinemia	3	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0003119	HP:0040299	Decreased circulating free fatty acid level	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.	135
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0003119	HP:0030781	Increased circulating free fatty acid level	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	200
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0010981	Hypolipoproteinemia	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003119	HP:0010981	Hypolipoproteinemia	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0010981	Hypolipoproteinemia	3	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0003119	HP:0031889	Abnormal VLDL cholesterol concentration	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0031887	Abnormal chylomicron concentration	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0003119	HP:0031889	Abnormal VLDL cholesterol concentration	3	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0031887	Abnormal chylomicron concentration	3	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency		6
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0003119	HP:0010981	Hypolipoproteinemia	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0003119	HP:0010981	Hypolipoproteinemia	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0010981	Hypolipoproteinemia	3	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0010981	Hypolipoproteinemia	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency		41
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040282 - Frequent	101
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0010981	Hypolipoproteinemia	3	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0003119	HP:0034298	Elevated circulating hexacosanoic acid concentration	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0003119	HP:0030781	Increased circulating free fatty acid level	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0010981	Hypolipoproteinemia	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003119	HP:0010981	Hypolipoproteinemia	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0003119	HP:0030781	Increased circulating free fatty acid level	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent	6
HP:0003119	HP:0010981	Hypolipoproteinemia	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	.	12
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0031887	Abnormal chylomicron concentration	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0030781	Increased circulating free fatty acid level	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0003119	HP:0040299	Decreased circulating free fatty acid level	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0003119	HP:0030361	Abnormal circulating eicosanoid concentration	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0003119	HP:0040299	Decreased circulating free fatty acid level	3	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0010981	Hypolipoproteinemia	3	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0031889	Abnormal VLDL cholesterol concentration	3	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0003119	HP:0010981	Hypolipoproteinemia	3	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0003119	HP:0010981	Hypolipoproteinemia	3	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0003119	HP:0031889	Abnormal VLDL cholesterol concentration	3	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0010981	Hypolipoproteinemia	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0003119	HP:0010981	Hypolipoproteinemia	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0003119	HP:0010981	Hypolipoproteinemia	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003119	HP:0031889	Abnormal VLDL cholesterol concentration	3	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0031028	Lactescent serum	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0003119	HP:0031887	Abnormal chylomicron concentration	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003119	HP:0030361	Abnormal circulating eicosanoid concentration	3	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0003119	HP:0010981	Hypolipoproteinemia	3	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0010981	Hypolipoproteinemia	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0003119	HP:0010981	Hypolipoproteinemia	3	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003119	HP:0010981	Hypolipoproteinemia	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0003119	HP:0010981	Hypolipoproteinemia	3	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent	75
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0003119	HP:0034298	Elevated circulating hexacosanoic acid concentration	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0003119	HP:0034297	Elevated circulating tetracosanoic acid concentration	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0003119	HP:0003455	Elevated circulating long chain fatty acid concentration	3	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B		72
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0003119	HP:0010965	Abnormal circulating phytanic acid concentration	3	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0003119	HP:0032575	Decreased circulating 12-HETE	3	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0030361	Abnormal circulating eicosanoid concentration	3	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0040178	Increased level of platelet-activating factor	3	PLA2G7 CL E G H	7941	9040	OMIM:614278	Platelet-Activating factor acetylhydrolase deficiency	.	5
HP:0003119	HP:0010981	Hypolipoproteinemia	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0003119	HP:0010981	Hypolipoproteinemia	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003119	HP:0030361	Abnormal circulating eicosanoid concentration	3	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0003119	HP:0010981	Hypolipoproteinemia	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0031888	Abnormal HDL cholesterol concentration	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0003119	HP:0010967	Abnormal circulating carnitine concentration	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003119	HP:0031886	Abnormal LDL cholesterol concentration	3	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003119	HP:0010980	Hyperlipoproteinemia	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003119	HP:0031889	Abnormal VLDL cholesterol concentration	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0003119	HP:0040299	Decreased circulating free fatty acid level	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent	15
HP:0003119	HP:0025628	Increased circulating myristoleate level	4	CL E G H
HP:0003119	HP:0025627	Increased circulating octadecanoate level	4	CL E G H
HP:0003119	HP:0032418	Abnormal HDL subfraction concentration	4	CL E G H
HP:0003119	HP:0025626	Increased circulating oleate level	4	CL E G H
HP:0003119	HP:0034450	Decreased phytanic acid:pristanic acid ratio	4	CL E G H
HP:0003119	HP:0031243	Decreased VLDL cholesterol concentration	4	CL E G H
HP:0003119	HP:0034449	Increased phytanic acid:pristanic acid ratio	4	CL E G H
HP:0003119	HP:0031242	Decreased circulating chylomicron concentration	4	CL E G H
HP:0003119	HP:0032462	Increased circulating palmitate level	4	CL E G H
HP:0003119	HP:0020148	Increased circulating mead acid level	4	CL E G H
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent	191
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	67
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	76
HP:0003119	HP:0003234	Decreased plasma carnitine	4	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.	58
HP:0003119	HP:0003234	Decreased plasma carnitine	4	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0003119	HP:0003234	Decreased plasma carnitine	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0003119	HP:0003234	Decreased plasma carnitine	4	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0003119	HP:0003234	Decreased plasma carnitine	4	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency		90
HP:0003119	HP:0003234	Decreased plasma carnitine	4	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent	40
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0003119	HP:0012238	Increased circulating chylomicron concentration	4	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0003119	HP:0003362	Increased VLDL cholesterol concentration	4	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0003119	HP:0003362	Increased VLDL cholesterol concentration	4	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	356
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0003119	HP:0012238	Increased circulating chylomicron concentration	4	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003119	HP:0012184	Increased HDL cholesterol concentration	4	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003119	HP:0012184	Increased HDL cholesterol concentration	4	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003119	HP:0012184	Increased HDL cholesterol concentration	4	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0003119	HP:0003234	Decreased plasma carnitine	4	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0003119	HP:0003234	Decreased plasma carnitine	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0003119	HP:0003234	Decreased plasma carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003119	HP:0003234	Decreased plasma carnitine	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003119	HP:0003234	Decreased plasma carnitine	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003119	HP:0003234	Decreased plasma carnitine	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0003119	HP:0003234	Decreased plasma carnitine	4	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0003119	HP:0003234	Decreased plasma carnitine	4	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0003119	HP:0003234	Decreased plasma carnitine	4	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0012238	Increased circulating chylomicron concentration	4	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0003119	HP:0003234	Decreased plasma carnitine	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003119	HP:0003234	Decreased plasma carnitine	4	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0003119	HP:0011023	Abnormal circulating prostaglandin circulation	4	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0003119	HP:0003362	Increased VLDL cholesterol concentration	4	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040281 - Very frequent	26
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	2157
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	73
HP:0003119	HP:0003362	Increased VLDL cholesterol concentration	4	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003119	HP:0012184	Increased HDL cholesterol concentration	4	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003119	HP:0012184	Increased HDL cholesterol concentration	4	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040280 - Obligate	35
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	HP:0040283 - Occasional	645
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003119	HP:0003362	Increased VLDL cholesterol concentration	4	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0003119	HP:0012238	Increased circulating chylomicron concentration	4	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0003119	HP:0030390	Reduced circulating leukotriene C4 concentration	4	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY		1
HP:0003119	HP:0003234	Decreased plasma carnitine	4	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0003119	HP:0003234	Decreased plasma carnitine	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003119	HP:0003234	Decreased plasma carnitine	4	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0003119	HP:0003234	Decreased plasma carnitine	4	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0003119	HP:0003234	Decreased plasma carnitine	4	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	178
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	169
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	75
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	4
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	65
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	66
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	46
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	59
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	62
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	82
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	106
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	47
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	99
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	98
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.	72
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0003119	HP:0010571	Elevated circulating phytanic acid concentration	4	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0003119	HP:0030389	Abnormal circulating thromboxane concentration	4	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003119	HP:0003563	Decreased LDL cholesterol concentration	4	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003119	HP:0003234	Decreased plasma carnitine	4	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003119	HP:0011023	Abnormal circulating prostaglandin circulation	4	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0003119	HP:0003234	Decreased plasma carnitine	4	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0003119	HP:0003234	Decreased plasma carnitine	4	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0003119	HP:0003234	Decreased plasma carnitine	4	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency		3
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0003119	HP:0003233	Decreased HDL cholesterol concentration	4	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003119	HP:0012071	Abnormal circulating acetylcarnitine concentration	4	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0003119	HP:0003234	Decreased plasma carnitine	4	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0003119	HP:0003234	Decreased plasma carnitine	4	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0003119	HP:0003141	Increased LDL cholesterol concentration	4	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0003119	HP:0003362	Increased VLDL cholesterol concentration	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0003119	HP:0032426	Abnormal HDL3b concentration	5	CL E G H
HP:0003119	HP:0032419	Abnormal HDL2a concentration	5	CL E G H
HP:0003119	HP:0033381	Elevated circulating stearoylcarnitine concentration	5	CL E G H
HP:0003119	HP:0032425	Abnormal HDL3a concentration	5	CL E G H
HP:0003119	HP:0033382	Elevated circulating palmitoylcarnitine concentration	5	CL E G H
HP:0003119	HP:0033445	Reduced circulating acylcarnitine concentration	5	CL E G H
HP:0003119	HP:0033502	Abnormal esterified to free carnitine ratio	5	CL E G H
HP:0003119	HP:0032422	Abnormal HDL2b concentration	5	CL E G H
HP:0003119	HP:0032427	Abnormal HDL3c concentration	5	CL E G H
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0003119	HP:0011936	Decreased plasma total carnitine	5	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	90
HP:0003119	HP:0011936	Decreased plasma total carnitine	5	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040282 - Frequent	101
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0003119	HP:0008315	Decreased plasma free carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0003119	HP:0011936	Decreased plasma total carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040281 - Very frequent	101
HP:0003119	HP:0008315	Decreased plasma free carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003119	HP:0011936	Decreased plasma total carnitine	5	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003119	HP:0011936	Decreased plasma total carnitine	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0003119	HP:0008315	Decreased plasma free carnitine	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003119	HP:0003566	Increased serum prostaglandin E2	5	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0003119	HP:0011936	Decreased plasma total carnitine	5	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0003119	HP:0008181	Abetalipoproteinemia	5	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81
HP:0003119	HP:0008315	Decreased plasma free carnitine	5	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0003119	HP:0032244	Decreased serum thromboxane B2	5	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003119	HP:0008315	Decreased plasma free carnitine	5	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0003119	HP:0003566	Increased serum prostaglandin E2	5	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.	3
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0003119	HP:0045045	Elevated circulating acylcarnitine concentration	5	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0003119	HP:0033439	Elevated circulating decenoylcarnitine concentration	6	CL E G H
HP:0003119	HP:0033461	Elevated circulating 3-hydroxylinoleylcarnitine concentration	6	CL E G H
HP:0003119	HP:0032432	Increased HDL3c concentration	6	CL E G H
HP:0003119	HP:0033507	Decreased esterified to free carnitine ratio	6	CL E G H
HP:0003119	HP:0033447	Elevated circulating isovalerylcarnitine concentration	6	CL E G H
HP:0003119	HP:0032431	Decreased HDL3b concentration	6	CL E G H
HP:0003119	HP:0033506	Increased esterified to free carnitine ratio	6	CL E G H
HP:0003119	HP:0032424	Increased HDL2b concentration	6	CL E G H
HP:0003119	HP:0032430	Increased HDL3b concentration	6	CL E G H
HP:0003119	HP:0032423	Decreased HDL2b concentration	6	CL E G H
HP:0003119	HP:0033442	Elevated circulating glutarylcarnitine concentration	6	CL E G H
HP:0003119	HP:0032429	Decreased HDL3a concentration	6	CL E G H
HP:0003119	HP:0033484	Elevated circulating linoleylcarnitine concentration	6	CL E G H
HP:0003119	HP:0033441	Elevated circulating hexanoylcarnitine concentration	6	CL E G H
HP:0003119	HP:0032428	Increased HDL3a concentration	6	CL E G H
HP:0003119	HP:0033464	Elevated circulating 3-hydroxypalmitoleylcarnitine concentration	6	CL E G H
HP:0003119	HP:0032421	Decreased HDL2a concentration	6	CL E G H
HP:0003119	HP:0033440	Elevated circulating octenoylcarnitine concentration	6	CL E G H
HP:0003119	HP:0033462	Elevated circulating oleylcarnitine concentration	6	CL E G H
HP:0003119	HP:0032433	Decreased HDL3c concentration	6	CL E G H
HP:0003119	HP:0032420	Increased HDL2a concentration	6	CL E G H
HP:0003119	HP:0033443	Elevated circulating propionylcarnitine concentration	6	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0003119	HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	6	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0033444	Elevated circulating dodecanoylcarnitine concentration	6	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003119	HP:0033446	Elevated circulating butyrylcarnitine concentration	6	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003119	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	6	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0003119	HP:0033443	Elevated circulating propionylcarnitine concentration	6	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003119	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	6	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0003119	HP:0031544	Elevated circulating palmitoleylcarnitine concentration	6	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101