Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1403 | 23336 | 610627 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 867 | 358 | 605555 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 891 | 492 | 612641 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 470 | 6211 | 300836 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AXL CL E G H | 558 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 165 | 905 | 109135 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CBX2 CL E G H | 84733 | 242 | | | | ORPHA | 1 | | 114 | 1552 | 602770 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 281 | 26821 | 616031 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CCDC141 CL E G H | 285025 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 281 | 26821 | 616031 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 1 | | 4522 | 13733 | 605516 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2930 | 20626 | 608892 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 612370 | Kallmann syndrome 5 | 612370 | C2675302 | OMIM | 1 | | 2930 | 20626 | 608892 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 637 | 2498 | 604927 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 637 | 2498 | 604927 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 366 | 25784 | 612515 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 259 | 2701 | 120470 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DHH CL E G H | 50846 | 242 | | | | ORPHA | 1 | | 102 | 2865 | 605423 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DMRT1 CL E G H | 1761 | 242 | | | | ORPHA | 1 | | 276 | 2934 | 602424 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 66 | 3072 | 602748 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 109 | 22788 | 613301 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FEZF1 CL E G H | 389549 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 109 | 22788 | 613301 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF17 CL E G H | 8822 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF8 CL E G H | 2253 | 612702 | Kallmann syndrome 6 | 612702 | C2675188 | OMIM | 1 | | 98 | 3686 | 600483 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGFR1 CL E G H | 2260 | 147950 | Kallmann syndrome 2 | 147950 | C1563720 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 77 | 3762 | 604808 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FLRT3 CL E G H | 23767 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 77 | 3762 | 604808 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FSHB CL E G H | 2488 | 52901 | | | | ORPHA | 1 | | 71 | 3964 | 136530 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 571 | 4284 | 121011 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GLI2 CL E G H | 2736 | 95494 | | | | ORPHA | 1 | | 832 | 4318 | 165230 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 124 | 4419 | 152760 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRH1 CL E G H | 2796 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 124 | 4419 | 152760 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 198 | 4421 | 138850 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRHR CL E G H | 2798 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 198 | 4421 | 138850 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 211 | 14963 | 300393 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HDAC8 CL E G H | 55869 | 3459 | | | | ORPHA | 1 | | 381 | 13315 | 300269 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 936 | 4868 | 605837 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HESX1 CL E G H | 8820 | 95494 | | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HFE CL E G H | 3077 | 235200 | Hemochromatosis type 1 | 235200 | C3469186 | OMIM | 1 | | 237 | 4886 | 613609 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HSD17B3 CL E G H | 3293 | 752 | | | | ORPHA | 1 | | 175 | 5212 | 605573 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 163 | 17616 | 606807 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | IL17RD CL E G H | 54756 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 163 | 17616 | 606807 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 302 | 6109 | 601491 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 1003 | 17582 | 605880 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 57 | 6341 | 603286 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1 CL E G H | 3814 | 614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | 614842 | C3541462 | OMIM | 1 | | 57 | 6341 | 603286 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1R CL E G H | 84634 | 614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | 614837 | C3553841 | OMIM | 1 | | 154 | 4510 | 604161 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LAS1L CL E G H | 81887 | 3459 | | | | ORPHA | 1 | | 283 | 25726 | 300964 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LHB CL E G H | 3972 | 228300 | Isolated lutropin deficiency | 228300 | C0271582 | OMIM | 1 | | 79 | 6584 | 152780 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LHX4 CL E G H | 89884 | 95494 | | | | ORPHA | 1 | | 172 | 21734 | 602146 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2859 | 6742 | 600574 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MAP3K1 CL E G H | 4214 | 242 | | | | ORPHA | 1 | | 256 | 6848 | 600982 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 1 | | 2173 | 7010 | 613733 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 357 | 7114 | 603856 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 328 | 7675 | 602117 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 387 | 1190 | 610922 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NR0B1 CL E G H | 190 | 242 | | | | ORPHA | 1 | | 373 | 7960 | 300473 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NR0B1 CL E G H | 190 | 300200 | Congenital adrenal hypoplasia, X-linked | 300200 | C0342482 | OMIM | 1 | | 373 | 7960 | 300473 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NR5A1 CL E G H | 2516 | 242 | | | | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 281 | 7989 | 164790 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NSMF CL E G H | 26012 | 614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | 614838 | C3553842 | OMIM | 1 | | 197 | 29843 | 608137 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | OTX2 CL E G H | 5015 | 95494 | | | | ORPHA | 1 | | 231 | 8522 | 600037 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PCSK1 CL E G H | 5122 | 600955 | Proprotein convertase 1/3 deficiency | 600955 | C1833053 | OMIM | 1 | | 267 | 8743 | 162150 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 1180 | | | | ORPHA | 1 | | 1216 | 16268 | 603197 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 1216 | 16268 | 603197 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3B CL E G H | 55703 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POU1F1 CL E G H | 5449 | 95494 | | | | ORPHA | 1 | | 104 | 9210 | 173110 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROK2 CL E G H | 60675 | 610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | 610628 | C1857720 | OMIM | 1 | | 65 | 18455 | 607002 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROKR2 CL E G H | 128674 | 244200 | Kallmann syndrome 3 | 244200 | C2930927 | OMIM | 1 | | 160 | 15836 | 607123 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROP1 CL E G H | 5626 | 95494 | | | | ORPHA | 1 | | 261 | 9455 | 601538 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROP1 CL E G H | 5626 | 90695 | | | | ORPHA | 1 | | 261 | 9455 | 601538 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 854 | 9644 | 176876 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 30089 | 600161 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 314 | 33235 | 611215 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP1 CL E G H | 22930 | 1387 | Cleft palate cardiac defect ectrodactyly | | | ORPHA | 1 | | 459 | 17063 | 602536 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP2 CL E G H | 25782 | 1387 | Cleft palate cardiac defect ectrodactyly | | | ORPHA | 1 | | 671 | 17168 | 609275 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP2 CL E G H | 25782 | 212720 | Martsolf syndrome | 212720 | C0796037 | OMIM | 1 | | 671 | 17168 | 609275 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 990 | 9829 | 164760 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 533 | 9872 | 601589 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 269 | 10023 | 609591 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 297 | 21698 | 609948 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 260 | 10447 | 165090 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 214 | 10723 | 603961 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 594 | 10727 | 608166 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 594 | 10727 | 608166 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3E CL E G H | 9723 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 594 | 10727 | 608166 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SIX6 CL E G H | 4990 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 128 | 10892 | 606326 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33020 | 609837 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33067 | 605436 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 396 | 11164 | 182279 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1503 | 11187 | 182530 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 1250 | 11188 | 601247 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX2 CL E G H | 6657 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 211 | 11195 | 184429 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX3 CL E G H | 6658 | 90695 | | | | ORPHA | 1 | | 264 | 11199 | 313430 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX9 CL E G H | 6662 | 242 | | | | ORPHA | 1 | | 363 | 11204 | 608160 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 78 | 15533 | 607984 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SRA1 CL E G H | 10011 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 82 | 11281 | 603819 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SRY CL E G H | 6736 | 242 | | | | ORPHA | 1 | | 115 | 11311 | 480000 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 31 | 11521 | 162330 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TAC3 CL E G H | 6866 | 614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | 614839 | C3553843 | OMIM | 1 | | 31 | 11521 | 162330 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TACR3 CL E G H | 6870 | 614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | 614840 | C3553844 | OMIM | 1 | | 132 | 11528 | 162332 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 631 | 15979 | 603273 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 146110 | Hypogonadotropic hypogonadism 7 with or without anosmia | 146110 | C0342384 | OMIM | 1 | | 369 | 13831 | 606417 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WT1 CL E G H | 7490 | 242 | | | | ORPHA | 1 | | 1371 | 12796 | 607102 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 209 | 12877 | 606480 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 249 | 961 | 605681 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 229 | 2586 | 603432 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DCC CL E G H | 1630 | 238722 | | | | ORPHA | 0 | | 259 | 2701 | 120470 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DNAL4 CL E G H | 10126 | 238722 | | | | ORPHA | 0 | | 32 | 2955 | 610565 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 966 | 3327 | 130160 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 178 | 4659 | 601679 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 266 | 4661 | 604318 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HJV CL E G H | 148738 | 602390 | Hemochromatosis type 2A | 602390 | C1865614 | OMIM | 0 | | 470 | 4887 | 608374 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 232 | 6613 | 601329 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NTN1 CL E G H | 9423 | 238722 | | | | ORPHA | 0 | | 59 | 8029 | 601614 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 214 | 9107 | 604282 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 0 | | 1216 | 16268 | 603197 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3B CL E G H | 55703 | 614381 | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 614381 | C3280644 | OMIM | 0 | | 510 | 30348 | 614366 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 0 | | 791 | 9586 | 603673 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAD51 CL E G H | 5888 | 238722 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 0 | | 212 | 9968 | 602776 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 200 | 9970 | 600404 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 0 | | 194 | 11586 | 605842 |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |