Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | | | | 191 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040281 - Very frequent | | | 191 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | AGL CL E G H | 178 | 321 | ORPHA:366 | Glycogen storage disease due to glycogen debranching enzyme deficiency | HP:0040281 - Very frequent | | | 216 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 85 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040281 - Very frequent | | | 404 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | . | | | 7 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040281 - Very frequent | | | 39 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 105 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040282 - Frequent | | | 105 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | | | | 11 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 8 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | . | | | 8 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CREB3L3 CL E G H | 84699 | 18855 | OMIM:619324 | HYPERTRIGLYCERIDEMIA 2; HYTG2 | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | CYP7A1 CL E G H | 1581 | 2651 | ORPHA:209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | . | | | 145 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | . | | | 3 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | | | | 12 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | . | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:136120 | Fish-Eye disease | . | | | 26 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:245900 | Lecithin:cholesterol acyltransferase deficiency | . | | | 26 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LDLRAP1 CL E G H | 26119 | 18640 | OMIM:603813 | Hypercholesterolemia, autosomal recessive | . | | | 73 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040282 - Frequent | | | 47 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040282 - Frequent | | | 73 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LIPC CL E G H | 3990 | 6619 | ORPHA:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | HP:0040280 - Obligate | | | 35 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | HP:0040283 - Occasional | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040281 - Very frequent | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | | | | 106 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | . | | | 26 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040282 - Frequent | | | 54 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | . | | | 54 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | HP:0040284 - Very rare | | | 1 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | . | | | 19 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 19 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040281 - Very frequent | | | 110 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | . | | | 164 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | . | | | 62 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | | | | 310 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0002155 | HP:0002155 | Hypertriglyceridemia | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0002155 | HP:0031028 | Lactescent serum | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |