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