Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ADCY10 CL E G H | 55811 | 21285 | ORPHA:2197 | Idiopathic hypercalciuria | HP:0040282 - Frequent | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040281 - Very frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | HP:0040283 - Occasional | | | 89 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040282 - Frequent | | | 37 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:53697 | Gnathodiaphyseal dysplasia | HP:0040282 - Frequent | | | 304 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:166260 | Gnathodiaphyseal dysplasia | . | | | 304 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | AVP CL E G H | 551 | 894 | OMIM:125700 | Diabetes insipidus, Neurohypophyseal type | . | | | 22 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040281 - Very frequent | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 515 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | . | | | 373 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 325 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:619884 | | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | . | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CRTAP CL E G H | 10491 | 2379 | OMIM:610682 | Osteogenesis imperfecta, type VII | . | | | 124 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | | | | 62 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040281 - Very frequent | | | 62 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040282 - Frequent | | | 26 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:615269 | Hypogonadotropic hypogonadism 19 with or without anosmia | HP:0040283 - Occasional | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:615363 | Estrogen resistance | . | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | HP:0040283 - Occasional | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 17 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | HP:0040283 - Occasional | | | 172 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 172 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:610968 | Osteogenesis imperfecta, type XI | . | | | 61 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | . | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FLRT3 CL E G H | 23767 | 3762 | OMIM:615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | HP:0040283 - Occasional | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:617343 | Hyperparathyroidism 4 | HP:0040283 - Occasional | | | 51 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | . | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 56 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 15 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 92 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | . | | | 55 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 8 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | . | | | 98 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IFITM5 CL E G H | 387733 | 16644 | OMIM:610967 | Osteogenesis imperfecta, type V | . | | | 8 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | . | | | 91 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | HP:0040283 - Occasional | | | 9 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 14 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | . | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | . | | | 22 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040281 - Very frequent | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040281 - Very frequent | | | 64 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609241 | Schindler disease, type I | . | | | 47 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NHERF1 CL E G H | 9368 | 11075 | OMIM:612287 | Nephrolithiasis/osteoporosis, hypophosphatemic, 2 | . | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:615923 | Epiphyseal chondrodysplasia, Miura type | . | | | 53 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | P4HB CL E G H | 5034 | 8548 | OMIM:112240 | Cole-Carpenter syndrome 1 | . | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | . | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040281 - Very frequent | | | 105 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | . | | | 45 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | HP:0040284 - Very rare | | | 1129 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 9 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 54 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | | | | 53 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 71 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | . | | | 22 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | HP:0040283 - Occasional | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | . | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | . | | | 134 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:613388 | Fanconi renotubular syndrome 2 | . | | | 47 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:612286 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1 | . | | | 47 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040284 - Very rare | | | 27 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | HP:0040283 - Occasional | | | 11 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 24 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | HP:0040283 - Occasional | | | 89 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | . | | | 110 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STN1 CL E G H | 79991 | 26200 | OMIM:617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | . | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619445 | DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12 | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 82 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TMEM38B CL E G H | 55151 | 25535 | OMIM:615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | HP:0003584 - Late onset | | 171 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190351 | Trichorhinophalangeal syndrome, type III | . | | | 171 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | . | | | 4 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 10 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | . | | | 5 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000938 | HP:0000938 | Osteopenia | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |