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:0000939 | HP:0000939 | Osteoporosis | 0 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 426 | 6211 | 300836 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | AR CL E G H | 367 | 99429 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CCN6 CL E G H | 8838 | 208230 | Progressive pseudorheumatoid dysplasia | 208230 | C0432215 | OMIM | 1 | | 122 | 12771 | 603400 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 162 | 2570 | 613218 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 341 | 2594 | 107910 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 751 | 2605 | 606530 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 210 | 13909 | 614754 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 51 | 3072 | 602748 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 100 | 3673 | 603725 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 77 | 3686 | 600483 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | FSHR CL E G H | 2492 | 233300 | Ovarian dysgenesis 1 | 233300 | C0949595 | OMIM | 1 | | 176 | 3969 | 136435 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 220 | 4289 | 300474 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 117 | 4419 | 152760 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 182 | 4421 | 138850 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GORAB CL E G H | 92344 | 2078 | | | | ORPHA | 1 | | 198 | 25676 | 607983 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GORAB CL E G H | 92344 | 231070 | Geroderma osteodysplastica | 231070 | C0432255 | OMIM | 1 | | 198 | 25676 | 607983 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HBB CL E G H | 3043 | 232 | Medullary sponge kidney | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 185 | 4886 | 613609 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HPGD CL E G H | 3248 | 259100 | Pachydermoperiostosis syndrome | 259100 | C0029411 | OMIM | 1 | | 196 | 5154 | 601688 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 85 | 5201 | 604846 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 231 | 5218 | 613890 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | IFIH1 CL E G H | 64135 | 182250 | Singleton-Merten syndrome 1 | 182250 | C4225427 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | IFT122 CL E G H | 55764 | 1515 | | | | ORPHA | 1 | | 462 | 13556 | 606045 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 462 | 13556 | 606045 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | IFT43 CL E G H | 112752 | 1515 | | | | ORPHA | 1 | | 199 | 29669 | 614068 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | IFT52 CL E G H | 51098 | 1515 | | | | ORPHA | 1 | | 112 | 15901 | 617094 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 183 | 5464 | 147440 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 1 | | 173 | 6269 | 600935 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 44 | 6341 | 603286 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 4510 | 604161 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1354 | 6697 | 603506 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 184 | 6848 | 600982 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 1 | | 1906 | 7010 | 613733 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 206 | 12744 | 605678 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 72 | 7155 | 120353 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 153 | 14377 | 606470 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 89 | 14378 | 606471 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 1 | | 750 | 7882 | 600275 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 306 | 7960 | 300473 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 205 | 7983 | 184757 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 145 | 29843 | 608137 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | NSMF CL E G H | 26012 | 614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | 614838 | C3553842 | OMIM | 1 | | 145 | 29843 | 608137 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 908 | 8653 | 232000 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 734 | 8654 | 232050 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 150 | 8773 | 604961 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PEX12 CL E G H | 5193 | 266510 | Infantile Refsum's disease | 266510 | C0282527 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 161 | 14938 | 610272 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PLS3 CL E G H | 5358 | 300910 | Bone mineral density quantitative trait locus 18 | 300910 | C3806712 | OMIM | 1 | | 282 | 9091 | 300131 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 218 | 13711 | 300603 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 402 | 9208 | 124015 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 347 | 9349 | 614161 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 32 | 9380 | 601639 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 55 | 18455 | 607002 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 15836 | 607123 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | PYCR1 CL E G H | 5831 | 2078 | | | | ORPHA | 1 | | 208 | 9721 | 179035 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 317 | 17063 | 602536 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 3666 | 9949 | 603780 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 125 | 10301 | 604175 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | RUNX2 CL E G H | 860 | 1452 | | | | ORPHA | 1 | | 373 | 10472 | 600211 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SH3PXD2B CL E G H | 285590 | 249420 | Frank Ter Haar syndrome | 249420 | C1855305 | OMIM | 1 | | 428 | 29242 | 613293 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SLC34A1 CL E G H | 6569 | 612286 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | 612286 | C2676786 | OMIM | 1 | | 334 | 11019 | 182309 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 819 | 4061 | 602671 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SLC7A7 CL E G H | 9056 | 222700 | Lysinuric protein intolerance | 222700 | C0268647 | OMIM | 1 | | 528 | 11065 | 603593 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SLC9A3R1 CL E G H | 9368 | 612287 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 | C2676782 | OMIM | 1 | | 62 | 11075 | 604990 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 264 | 11123 | 300105 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 280 | 11204 | 608160 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SPARC CL E G H | 6678 | 616507 | Osteogenesis imperfecta, type xvii | 616507 | C4225301 | OMIM | 1 | | 106 | 11219 | 182120 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 45 | 15533 | 607984 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 113 | 11311 | 480000 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 22 | 11521 | 162330 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 111 | 11528 | 162332 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 293 | 11727 | 602322 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2449 | 11730 | 187270 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TMEM165 CL E G H | 55858 | 614727 | Congenital disorder of glycosylation type 2k | 614727 | C3553571 | OMIM | 1 | | 122 | 30760 | 614726 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TNFRSF11A CL E G H | 8792 | 2801 | | | | ORPHA | 1 | | 420 | 11908 | 603499 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TNFRSF11B CL E G H | 4982 | 2801 | | | | ORPHA | 1 | | 168 | 11909 | 602643 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TNFRSF11B CL E G H | 4982 | 239000 | Hyperphosphatasemia with bone disease | 239000 | C0268414 | OMIM | 1 | | 168 | 11909 | 602643 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | TRIP11 CL E G H | 9321 | 184260 | Goldblatt hypertension | 184260 | C0018036 | OMIM | 1 | | 608 | 12305 | 604505 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 124 | 11486 | 300053 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | VDR CL E G H | 7421 | 166710 | Postmenopausal osteoporosis | 166710 | C0029458 | OMIM | 1 | | 269 | 12679 | 601769 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | VPS53 CL E G H | 55275 | 615851 | Pontocerebellar hypoplasia, type 2e | 615851 | C4014488 | OMIM | 1 | | 315 | 25608 | 615850 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 293 | 13831 | 606417 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WDR19 CL E G H | 57728 | 1515 | | | | ORPHA | 1 | | 749 | 18340 | 608151 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WDR35 CL E G H | 57539 | 1515 | | | | ORPHA | 1 | | 523 | 29250 | 613602 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WNT1 CL E G H | 7471 | 85193 | | | | ORPHA | 1 | | 115 | 12774 | 164820 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WNT3A CL E G H | 89780 | 85193 | | | | ORPHA | 1 | | 80 | 15983 | 606359 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 2665 | 12791 | 604611 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 2665 | 12791 | 604611 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1146 | 12796 | 607102 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 967 | 12799 | 605131 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 190 | 15517 | 608125 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 241 | 16700 | 603693 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000939 | HP:0000939 | Osteoporosis | 0 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 2415 | 23216 | 612078 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 426 | 6211 | 300836 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 426 | 6211 | 300836 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | AR CL E G H | 367 | 99429 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | AR CL E G H | 367 | 99429 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CCN6 CL E G H | 8838 | 208230 | Progressive pseudorheumatoid dysplasia | 208230 | C0432215 | OMIM | 1 | | 122 | 12771 | 603400 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CCN6 CL E G H | 8838 | 208230 | Progressive pseudorheumatoid dysplasia | 208230 | C0432215 | OMIM | 1 | | 122 | 12771 | 603400 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 162 | 2570 | 613218 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 162 | 2570 | 613218 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 341 | 2594 | 107910 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 341 | 2594 | 107910 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 751 | 2605 | 606530 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 751 | 2605 | 606530 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 210 | 13909 | 614754 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 210 | 13909 | 614754 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 51 | 3072 | 602748 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 51 | 3072 | 602748 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 100 | 3673 | 603725 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 100 | 3673 | 603725 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 77 | 3686 | 600483 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 77 | 3686 | 600483 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 688 | 3688 | 136350 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | FSHR CL E G H | 2492 | 233300 | Ovarian dysgenesis 1 | 233300 | C0949595 | OMIM | 1 | | 176 | 3969 | 136435 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | FSHR CL E G H | 2492 | 233300 | Ovarian dysgenesis 1 | 233300 | C0949595 | OMIM | 1 | | 176 | 3969 | 136435 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GALT CL E G H | 2592 | 79239 | | | | ORPHA | 1 | | 645 | 4135 | 606999 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 630 | 4173 | 600576 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 220 | 4289 | 300474 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 220 | 4289 | 300474 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNAS CL E G H | 2778 | 189427 | | | | ORPHA | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 117 | 4419 | 152760 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 117 | 4419 | 152760 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 182 | 4421 | 138850 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 182 | 4421 | 138850 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GORAB CL E G H | 92344 | 2078 | | | | ORPHA | 1 | | 198 | 25676 | 607983 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GORAB CL E G H | 92344 | 2078 | | | | ORPHA | 1 | | 198 | 25676 | 607983 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GORAB CL E G H | 92344 | 231070 | Geroderma osteodysplastica | 231070 | C0432255 | OMIM | 1 | | 198 | 25676 | 607983 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GORAB CL E G H | 92344 | 231070 | Geroderma osteodysplastica | 231070 | C0432255 | OMIM | 1 | | 198 | 25676 | 607983 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HBB CL E G H | 3043 | 232 | Medullary sponge kidney | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HBB CL E G H | 3043 | 232 | Medullary sponge kidney | | | ORPHA | 1 | | 1450 | 4827 | 141900 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 185 | 4886 | 613609 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 185 | 4886 | 613609 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HPGD CL E G H | 3248 | 259100 | Pachydermoperiostosis syndrome | 259100 | C0029411 | OMIM | 1 | | 196 | 5154 | 601688 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HPGD CL E G H | 3248 | 259100 | Pachydermoperiostosis syndrome | 259100 | C0029411 | OMIM | 1 | | 196 | 5154 | 601688 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 85 | 5201 | 604846 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 85 | 5201 | 604846 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 231 | 5218 | 613890 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 231 | 5218 | 613890 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1830 | 5273 | 142461 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | IFIH1 CL E G H | 64135 | 182250 | Singleton-Merten syndrome 1 | 182250 | C4225427 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | IFIH1 CL E G H | 64135 | 182250 | Singleton-Merten syndrome 1 | 182250 | C4225427 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | IFT122 CL E G H | 55764 | 1515 | | | | ORPHA | 1 | | 462 | 13556 | 606045 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | IFT122 CL E G H | 55764 | 1515 | | | | ORPHA | 1 | | 462 | 13556 | 606045 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 462 | 13556 | 606045 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 462 | 13556 | 606045 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | IFT43 CL E G H | 112752 | 1515 | | | | ORPHA | 1 | | 199 | 29669 | 614068 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | IFT43 CL E G H | 112752 | 1515 | | | | ORPHA | 1 | | 199 | 29669 | 614068 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | IFT52 CL E G H | 51098 | 1515 | | | | ORPHA | 1 | | 112 | 15901 | 617094 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | IFT52 CL E G H | 51098 | 1515 | | | | ORPHA | 1 | | 112 | 15901 | 617094 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 183 | 5464 | 147440 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 183 | 5464 | 147440 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 1 | | 173 | 6269 | 600935 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | KCNJ8 CL E G H | 3764 | 1517 | | | | ORPHA | 1 | | 173 | 6269 | 600935 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 44 | 6341 | 603286 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 44 | 6341 | 603286 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 4510 | 604161 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 4510 | 604161 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | LIFR CL E G H | 3977 | 3206 | | | | ORPHA | 1 | | 721 | 6597 | 151443 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1354 | 6697 | 603506 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1354 | 6697 | 603506 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 184 | 6848 | 600982 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 184 | 6848 | 600982 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 1 | | 1906 | 7010 | 613733 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 1 | | 1906 | 7010 | 613733 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 206 | 12744 | 605678 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 206 | 12744 | 605678 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 72 | 7155 | 120353 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 72 | 7155 | 120353 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 153 | 14377 | 606470 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 153 | 14377 | 606470 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 89 | 14378 | 606471 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 89 | 14378 | 606471 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 1 | | 750 | 7882 | 600275 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 1 | | 750 | 7882 | 600275 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 750 | 7882 | 600275 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 306 | 7960 | 300473 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 306 | 7960 | 300473 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 205 | 7983 | 184757 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 205 | 7983 | 184757 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 145 | 29843 | 608137 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 145 | 29843 | 608137 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | NSMF CL E G H | 26012 | 614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | 614838 | C3553842 | OMIM | 1 | | 145 | 29843 | 608137 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | NSMF CL E G H | 26012 | 614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | 614838 | C3553842 | OMIM | 1 | | 145 | 29843 | 608137 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 908 | 8653 | 232000 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 908 | 8653 | 232000 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 734 | 8654 | 232050 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 734 | 8654 | 232050 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 150 | 8773 | 604961 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 150 | 8773 | 604961 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 179 | 8794 | 603390 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PEX12 CL E G H | 5193 | 266510 | Infantile Refsum's disease | 266510 | C0282527 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PEX12 CL E G H | 5193 | 266510 | Infantile Refsum's disease | 266510 | C0282527 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 161 | 14938 | 610272 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 161 | 14938 | 610272 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PLS3 CL E G H | 5358 | 300910 | Bone mineral density quantitative trait locus 18 | 300910 | C3806712 | OMIM | 1 | | 282 | 9091 | 300131 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PLS3 CL E G H | 5358 | 300910 | Bone mineral density quantitative trait locus 18 | 300910 | C3806712 | OMIM | 1 | | 282 | 9091 | 300131 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 218 | 13711 | 300603 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 218 | 13711 | 300603 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 402 | 9208 | 124015 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 402 | 9208 | 124015 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 347 | 9349 | 614161 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 347 | 9349 | 614161 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PRKACA CL E G H | 5566 | 615830 | Pigmented nodular adrenocortical disease, primary, 4 | 615830 | C4014425 | OMIM | 1 | | 32 | 9380 | 601639 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 32 | 9380 | 601639 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 32 | 9380 | 601639 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 916 | 9388 | 188830 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 55 | 18455 | 607002 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 55 | 18455 | 607002 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 15836 | 607123 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 15836 | 607123 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | PYCR1 CL E G H | 5831 | 2078 | | | | ORPHA | 1 | | 208 | 9721 | 179035 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | PYCR1 CL E G H | 5831 | 2078 | | | | ORPHA | 1 | | 208 | 9721 | 179035 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 317 | 17063 | 602536 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 317 | 17063 | 602536 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 3666 | 9949 | 603780 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 3666 | 9949 | 603780 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | RNU4ATAC CL E G H | 100151683 | 2636 | Hemihypertrophy intestinal web corneal opacity | | | ORPHA | 1 | | 214 | 34016 | 601428 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 125 | 10301 | 604175 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 125 | 10301 | 604175 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | RUNX2 CL E G H | 860 | 1452 | | | | ORPHA | 1 | | 373 | 10472 | 600211 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | RUNX2 CL E G H | 860 | 1452 | | | | ORPHA | 1 | | 373 | 10472 | 600211 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SH3PXD2B CL E G H | 285590 | 249420 | Frank Ter Haar syndrome | 249420 | C1855305 | OMIM | 1 | | 428 | 29242 | 613293 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SH3PXD2B CL E G H | 285590 | 249420 | Frank Ter Haar syndrome | 249420 | C1855305 | OMIM | 1 | | 428 | 29242 | 613293 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SLC34A1 CL E G H | 6569 | 612286 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | 612286 | C2676786 | OMIM | 1 | | 334 | 11019 | 182309 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SLC34A1 CL E G H | 6569 | 612286 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | 612286 | C2676786 | OMIM | 1 | | 334 | 11019 | 182309 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 819 | 4061 | 602671 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 819 | 4061 | 602671 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SLC7A7 CL E G H | 9056 | 222700 | Lysinuric protein intolerance | 222700 | C0268647 | OMIM | 1 | | 528 | 11065 | 603593 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SLC7A7 CL E G H | 9056 | 222700 | Lysinuric protein intolerance | 222700 | C0268647 | OMIM | 1 | | 528 | 11065 | 603593 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SLC9A3R1 CL E G H | 9368 | 612287 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 | C2676782 | OMIM | 1 | | 62 | 11075 | 604990 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SLC9A3R1 CL E G H | 9368 | 612287 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | 612287 | C2676782 | OMIM | 1 | | 62 | 11075 | 604990 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 264 | 11123 | 300105 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 264 | 11123 | 300105 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 280 | 11204 | 608160 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 280 | 11204 | 608160 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SPARC CL E G H | 6678 | 616507 | Osteogenesis imperfecta, type xvii | 616507 | C4225301 | OMIM | 1 | | 106 | 11219 | 182120 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SPARC CL E G H | 6678 | 616507 | Osteogenesis imperfecta, type xvii | 616507 | C4225301 | OMIM | 1 | | 106 | 11219 | 182120 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 45 | 15533 | 607984 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 45 | 15533 | 607984 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 113 | 11311 | 480000 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 113 | 11311 | 480000 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 22 | 11521 | 162330 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 22 | 11521 | 162330 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 111 | 11528 | 162332 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 111 | 11528 | 162332 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 293 | 11727 | 602322 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TERC CL E G H | 7012 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 293 | 11727 | 602322 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2449 | 11730 | 187270 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TERT CL E G H | 7015 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 2449 | 11730 | 187270 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TINF2 CL E G H | 26277 | 127550 | Dyskeratosis congenita autosomal dominant | 127550 | C1851970 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 330 | 11824 | 604319 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TMEM165 CL E G H | 55858 | 614727 | Congenital disorder of glycosylation type 2k | 614727 | C3553571 | OMIM | 1 | | 122 | 30760 | 614726 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TMEM165 CL E G H | 55858 | 614727 | Congenital disorder of glycosylation type 2k | 614727 | C3553571 | OMIM | 1 | | 122 | 30760 | 614726 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TNFRSF11A CL E G H | 8792 | 2801 | | | | ORPHA | 1 | | 420 | 11908 | 603499 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TNFRSF11A CL E G H | 8792 | 2801 | | | | ORPHA | 1 | | 420 | 11908 | 603499 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TNFRSF11B CL E G H | 4982 | 2801 | | | | ORPHA | 1 | | 168 | 11909 | 602643 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TNFRSF11B CL E G H | 4982 | 2801 | | | | ORPHA | 1 | | 168 | 11909 | 602643 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TNFRSF11B CL E G H | 4982 | 239000 | Hyperphosphatasemia with bone disease | 239000 | C0268414 | OMIM | 1 | | 168 | 11909 | 602643 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TNFRSF11B CL E G H | 4982 | 239000 | Hyperphosphatasemia with bone disease | 239000 | C0268414 | OMIM | 1 | | 168 | 11909 | 602643 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | TRIP11 CL E G H | 9321 | 184260 | Goldblatt hypertension | 184260 | C0018036 | OMIM | 1 | | 608 | 12305 | 604505 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | TRIP11 CL E G H | 9321 | 184260 | Goldblatt hypertension | 184260 | C0018036 | OMIM | 1 | | 608 | 12305 | 604505 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 1 | | 134 | 12631 | 603158 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 124 | 11486 | 300053 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 124 | 11486 | 300053 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | VDR CL E G H | 7421 | 166710 | Postmenopausal osteoporosis | 166710 | C0029458 | OMIM | 1 | | 269 | 12679 | 601769 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | VDR CL E G H | 7421 | 166710 | Postmenopausal osteoporosis | 166710 | C0029458 | OMIM | 1 | | 269 | 12679 | 601769 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | VPS53 CL E G H | 55275 | 615851 | Pontocerebellar hypoplasia, type 2e | 615851 | C4014488 | OMIM | 1 | | 315 | 25608 | 615850 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | VPS53 CL E G H | 55275 | 615851 | Pontocerebellar hypoplasia, type 2e | 615851 | C4014488 | OMIM | 1 | | 315 | 25608 | 615850 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 293 | 13831 | 606417 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 293 | 13831 | 606417 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WDR19 CL E G H | 57728 | 1515 | | | | ORPHA | 1 | | 749 | 18340 | 608151 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WDR19 CL E G H | 57728 | 1515 | | | | ORPHA | 1 | | 749 | 18340 | 608151 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WDR35 CL E G H | 57539 | 1515 | | | | ORPHA | 1 | | 523 | 29250 | 613602 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WDR35 CL E G H | 57539 | 1515 | | | | ORPHA | 1 | | 523 | 29250 | 613602 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WNT1 CL E G H | 7471 | 85193 | | | | ORPHA | 1 | | 115 | 12774 | 164820 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WNT1 CL E G H | 7471 | 85193 | | | | ORPHA | 1 | | 115 | 12774 | 164820 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WNT3A CL E G H | 89780 | 85193 | | | | ORPHA | 1 | | 80 | 15983 | 606359 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WNT3A CL E G H | 89780 | 85193 | | | | ORPHA | 1 | | 80 | 15983 | 606359 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 2665 | 12791 | 604611 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 2665 | 12791 | 604611 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 2665 | 12791 | 604611 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 2665 | 12791 | 604611 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1146 | 12796 | 607102 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1146 | 12796 | 607102 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 967 | 12799 | 605131 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 967 | 12799 | 605131 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 190 | 15517 | 608125 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 190 | 15517 | 608125 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 241 | 16700 | 603693 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 241 | 16700 | 603693 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0000939 | HP:0040160 | Generalized osteoporosis | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 2415 | 23216 | 612078 |
HP:0000939 | HP:0040161 | Localized osteoporosis | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 2415 | 23216 | 612078 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ABCC9 CL E G H | 10060 | 1517 | | | | ORPHA | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ABCC9 CL E G H | 10060 | 239850 | Hypertrichotic osteochondrodysplasia | 239850 | C0795905 | OMIM | 1 | | 1266 | 60 | 601439 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ALB CL E G H | 213 | 616000 | Analbuminemia | 616000 | C0878666 | OMIM | 1 | | 164 | 399 | 103600 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 426 | 6211 | 300836 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 426 | 6211 | 300836 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 426 | 6211 | 300836 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ANTXR2 CL E G H | 118429 | 228600 | Hyaline fibromatosis syndrome | 228600 | C2745948 | OMIM | 1 | | 264 | 21732 | 608041 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | AR CL E G H | 367 | 99429 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | AR CL E G H | 367 | 99429 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | AR CL E G H | 367 | 99429 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ARMC5 CL E G H | 79798 | 189427 | | | | ORPHA | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ARMC5 CL E G H | 79798 | 615954 | Acth-independent macronodular adrenal hyperplasia 2 | 615954 | C4014803 | OMIM | 1 | | 100 | 25781 | 615549 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1806 | 870 | 606882 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 47 | 17397 | 603811 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CAVIN1 CL E G H | 284119 | 613327 | Lipodystrophy, congenital generalized, type 4 | 613327 | C2750069 | OMIM | 1 | | 112 | 9688 | 603198 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 967 | 1550 | 613381 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CCN6 CL E G H | 8838 | 208230 | Progressive pseudorheumatoid dysplasia | 208230 | C0432215 | OMIM | 1 | | 122 | 12771 | 603400 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CCN6 CL E G H | 8838 | 208230 | Progressive pseudorheumatoid dysplasia | 208230 | C0432215 | OMIM | 1 | | 122 | 12771 | 603400 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CCN6 CL E G H | 8838 | 208230 | Progressive pseudorheumatoid dysplasia | 208230 | C0432215 | OMIM | 1 | | 122 | 12771 | 603400 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CDC73 CL E G H | 79577 | 143 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CDC73 CL E G H | 79577 | 99880 | | | | ORPHA | 1 | | 1148 | 16783 | 607393 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 3604 | 13733 | 605516 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2616 | 2214 | 120120 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1044 | 26169 | 613129 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 383 | 2498 | 604927 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 162 | 2570 | 613218 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 162 | 2570 | 613218 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 162 | 2570 | 613218 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 125 | 2590 | 118485 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 582 | 2591 | 610613 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 311 | 2593 | 609300 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 341 | 2594 | 107910 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 341 | 2594 | 107910 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 341 | 2594 | 107910 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 751 | 2605 | 606530 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 751 | 2605 | 606530 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 751 | 2605 | 606530 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 477 | 2890 | 300126 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 210 | 13909 | 614754 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 210 | 13909 | 614754 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 210 | 13909 | 614754 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 51 | 3072 | 602748 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 51 | 3072 | 602748 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 51 | 3072 | 602748 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 359 | 3255 | 604032 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | ESR1 CL E G H | 2099 | 785 | Arthrogryposis multiplex congenita CNS calcification | | | ORPHA | 1 | | 191 | 3467 | 133430 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 100 | 3673 | 603725 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 100 | 3673 | 603725 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 100 | 3673 | 603725 |
HP:0000939 | HP:0005653 | Moderate generalized osteoporosis | 2 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 77 | 3686 | 600483 |
HP:0000939 | HP:0005625 | Osteoporosis of vertebrae | 2 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 77 | 3686 | 600483 |
HP:0000939 | HP:0005897 | Severe generalized osteoporosis | 2 |