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:0009125 | HP:0009125 | Lipodystrophy | 0 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 115 | 392 | 164731 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 286 | 930 | 604327 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LMNA CL E G H | 4000 | 212112 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 212112 | C0796031 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | OTULIN CL E G H | 90268 | 617099 | Autoinflammation, panniculitis, and dermatosis syndrome | 617099 | C4310614 | OMIM | 1 | | 408 | 25118 | 615712 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | PIK3R1 CL E G H | 5295 | 269880 | SHORT syndrome | 269880 | C0878684 | OMIM | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | PSMB4 CL E G H | 5692 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 113 | 9541 | 602177 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | PSMB8 CL E G H | 5696 | 256040 | Nakajo syndrome | 256040 | C1850568 | OMIM | 1 | | 161 | 9545 | 177046 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | PSMB9 CL E G H | 5698 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 16 | 9546 | 177045 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | SPRTN CL E G H | 83932 | 616200 | Ruijs-Aalfs syndrome | 616200 | C4015461 | OMIM | 1 | | 55 | 25356 | 616086 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | AGPAT2 CL E G H | 10555 | 608594 | Congenital generalized lipodystrophy type 1 | 608594 | C1720862 | OMIM | 1 | | 213 | 325 | 603100 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 115 | 392 | 164731 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 115 | 392 | 164731 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | AKT2 CL E G H | 208 | 79085 | | | | ORPHA | 1 | | 115 | 392 | 164731 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 123 | 851 | 607027 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 172 | 857 | 108746 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 286 | 930 | 604327 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 286 | 930 | 604327 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 286 | 930 | 604327 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | BSCL2 CL E G H | 26580 | 269700 | Congenital generalized lipodystrophy type 2 | 269700 | C1720863 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 115 | 1527 | 601047 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | CIDEC CL E G H | 63924 | 435651 | | | | ORPHA | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | CIDEC CL E G H | 63924 | 615238 | Familial partial lipodystrophy 5 | 615238 | C3808940 | OMIM | 1 | | 81 | 24229 | 612120 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | IGF1R CL E G H | 3480 | 270450 | Insulin-like growth factor 1 resistance to | 270450 | C1849157 | OMIM | 1 | | 713 | 5465 | 147370 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LIPE CL E G H | 3991 | 435660 | | | | ORPHA | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LIPE CL E G H | 3991 | 615980 | Familial partial lipodystrophy 6 | 615980 | C4014869 | OMIM | 1 | | 82 | 6621 | 151750 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 212112 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 212112 | C0796031 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 212112 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 212112 | C0796031 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LMNA CL E G H | 4000 | 212112 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 212112 | C0796031 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LMNA CL E G H | 4000 | 151660 | Familial partial lipodystrophy 2 | 151660 | C1720860 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LMNA CL E G H | 4000 | 248370 | Mandibuloacral dysostosis | 248370 | C0432291 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | OTULIN CL E G H | 90268 | 617099 | Autoinflammation, panniculitis, and dermatosis syndrome | 617099 | C4310614 | OMIM | 1 | | 408 | 25118 | 615712 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | OTULIN CL E G H | 90268 | 617099 | Autoinflammation, panniculitis, and dermatosis syndrome | 617099 | C4310614 | OMIM | 1 | | 408 | 25118 | 615712 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | OTULIN CL E G H | 90268 | 617099 | Autoinflammation, panniculitis, and dermatosis syndrome | 617099 | C4310614 | OMIM | 1 | | 408 | 25118 | 615712 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | PIK3R1 CL E G H | 5295 | 3163 | Lactic acidosis congenital infantile | | | ORPHA | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | PIK3R1 CL E G H | 5295 | 269880 | SHORT syndrome | 269880 | C0878684 | OMIM | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | PIK3R1 CL E G H | 5295 | 269880 | SHORT syndrome | 269880 | C0878684 | OMIM | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | PIK3R1 CL E G H | 5295 | 269880 | SHORT syndrome | 269880 | C0878684 | OMIM | 1 | | 368 | 8979 | 171833 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | PPARG CL E G H | 5468 | 604367 | Familial partial lipodystrophy 3 | 604367 | C1720861 | OMIM | 1 | | 139 | 9236 | 601487 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | PSMB4 CL E G H | 5692 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 113 | 9541 | 602177 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | PSMB4 CL E G H | 5692 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 113 | 9541 | 602177 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | PSMB4 CL E G H | 5692 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 113 | 9541 | 602177 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | PSMB8 CL E G H | 5696 | 256040 | Nakajo syndrome | 256040 | C1850568 | OMIM | 1 | | 161 | 9545 | 177046 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | PSMB8 CL E G H | 5696 | 256040 | Nakajo syndrome | 256040 | C1850568 | OMIM | 1 | | 161 | 9545 | 177046 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | PSMB8 CL E G H | 5696 | 256040 | Nakajo syndrome | 256040 | C1850568 | OMIM | 1 | | 161 | 9545 | 177046 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | PSMB9 CL E G H | 5698 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 16 | 9546 | 177045 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | PSMB9 CL E G H | 5698 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 16 | 9546 | 177045 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | PSMB9 CL E G H | 5698 | 617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | 617591 | CN252341 | OMIM | 1 | | 16 | 9546 | 177045 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | SPRTN CL E G H | 83932 | 616200 | Ruijs-Aalfs syndrome | 616200 | C4015461 | OMIM | 1 | | 55 | 25356 | 616086 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | SPRTN CL E G H | 83932 | 616200 | Ruijs-Aalfs syndrome | 616200 | C4015461 | OMIM | 1 | | 55 | 25356 | 616086 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | SPRTN CL E G H | 83932 | 616200 | Ruijs-Aalfs syndrome | 616200 | C4015461 | OMIM | 1 | | 55 | 25356 | 616086 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 0 | | 187 | 2728 | 602202 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 0 | | 618 | 3331 | 300384 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | FBN1 CL E G H | 2200 | 184900 | Stiff skin syndrome | 184900 | C1861456 | OMIM | 0 | | 5970 | 3603 | 134797 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 0 | | 517 | 3702 | 300163 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LMNA CL E G H | 4000 | 264 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LMNA CL E G H | 4000 | 98855 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 345 | 23096 | 612373 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 4598 | 17089 | 608441 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 2497 | 17084 | 608442 |
HP:0009125 | HP:0009125 | Lipodystrophy | 0 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 740 | 28472 | 612048 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 0 | | 187 | 2728 | 602202 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 0 | | 187 | 2728 | 602202 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 0 | | 187 | 2728 | 602202 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 0 | | 618 | 3331 | 300384 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 0 | | 618 | 3331 | 300384 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | EMD CL E G H | 2010 | 98863 | | | | ORPHA | 0 | | 618 | 3331 | 300384 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | FBN1 CL E G H | 2200 | 184900 | Stiff skin syndrome | 184900 | C1861456 | OMIM | 0 | | 5970 | 3603 | 134797 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | FBN1 CL E G H | 2200 | 184900 | Stiff skin syndrome | 184900 | C1861456 | OMIM | 0 | | 5970 | 3603 | 134797 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | FBN1 CL E G H | 2200 | 184900 | Stiff skin syndrome | 184900 | C1861456 | OMIM | 0 | | 5970 | 3603 | 134797 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 0 | | 517 | 3702 | 300163 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 0 | | 517 | 3702 | 300163 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | FHL1 CL E G H | 2273 | 98863 | | | | ORPHA | 0 | | 517 | 3702 | 300163 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 264 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 98855 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 264 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | LMNA CL E G H | 4000 | 98855 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LMNA CL E G H | 4000 | 264 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LMNA CL E G H | 4000 | 98855 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | LMNA CL E G H | 4000 | 98853 | | | | ORPHA | 0 | | 1622 | 6636 | 150330 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 345 | 23096 | 612373 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 345 | 23096 | 612373 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 345 | 23096 | 612373 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 4598 | 17089 | 608441 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 4598 | 17089 | 608441 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | SYNE1 CL E G H | 23345 | 98853 | | | | ORPHA | 0 | | 4598 | 17089 | 608441 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 2497 | 17084 | 608442 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 2497 | 17084 | 608442 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | SYNE2 CL E G H | 23224 | 98853 | | | | ORPHA | 0 | | 2497 | 17084 | 608442 |
HP:0009125 | HP:0009064 | Generalized lipodystrophy | 1 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 740 | 28472 | 612048 |
HP:0009125 | HP:0009059 | Congenital generalized lipodystrophy | 1 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 740 | 28472 | 612048 |
HP:0009125 | HP:0100578 | Lipoatrophy | 1 | TMEM43 CL E G H | 79188 | 98853 | | | | ORPHA | 0 | | 740 | 28472 | 612048 |