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:0000135 | HP:0000135 | Hypogonadism | 0 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3233 | 34 | 601691 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 601 | 26147 | 615900 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1194 | 21575 | 608894 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 479 | 348 | 600253 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AR CL E G H | 367 | 312300 | Partial androgen insensitivity syndrome | 312300 | C0268301 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 912 | 17090 | 616432 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 113 | 17146 | 615407 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 137 | 694 | 604695 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 98 | 28093 | 613605 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS4 CL E G H | 585 | 615982 | Bardet-Biedl syndrome 4 | 615982 | C2936864 | OMIM | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 506 | 18758 | 607590 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 775 | 30000 | 607968 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BCS1L CL E G H | 617 | 262000 | Pili torti-deafness syndrome | 262000 | C0266006 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 793 | 12703 | 607854 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 283 | 1375 | 114760 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 890 | 14550 | 609502 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CDKN1C CL E G H | 1028 | 85173 | | | | ORPHA | 1 | | 1068 | 1786 | 600856 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 782 | 21699 | 608381 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 257 | 1967 | 100730 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 12605 | 606397 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 456 | 2148 | 123825 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1179 | 2151 | 600724 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 764 | 17211 | 605584 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 273 | 2933 | 605377 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3830 | 21555 | 612424 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 699 | 25808 | 613596 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FEZF1 CL E G H | 389549 | 616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | 616030 | C4014988 | OMIM | 1 | | 109 | 22788 | 613301 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 580 | 3960 | 607643 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FSHB CL E G H | 2488 | 229070 | Follicle-stimulating hormone deficiency, isolated | 229070 | C1856716 | OMIM | 1 | | 71 | 3964 | 136530 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GLI2 CL E G H | 2736 | 615849 | Culler-Jones syndrome | 615849 | C4014479 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 4679 | 602275 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 381 | 13315 | 300269 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1049 | 26527 | 610453 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 299 | 5385 | 604526 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT27 CL E G H | 11020 | 615996 | Bardet-Biedl syndrome 19 | 615996 | C3889475 | OMIM | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 523 | 21424 | 608040 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 390 | 20606 | 600595 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 197 | 5464 | 147440 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IL17RD CL E G H | 54756 | 615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | 615267 | C3808975 | OMIM | 1 | | 163 | 17616 | 606807 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 909 | 18362 | 607056 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1327 | 22219 | 613344 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 416 | 15865 | 615757 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 337 | 15646 | 611119 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LEP CL E G H | 3952 | 614962 | Leptin deficiency or dysfunction | 614962 | C3554224 | OMIM | 1 | | 129 | 6553 | 164160 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 445 | 6816 | 154235 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 815 | 7027 | 604705 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 1 | | 432 | 7108 | 604896 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 233 | 9706 | 600644 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 216 | 7745 | 604043 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 1 | | 815 | 7905 | 607100 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 7974 | 604485 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 8002 | 162080 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1020 | 2567 | 300170 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1022 | 34383 | 613425 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 834 | 8785 | 180071 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1142 | 8786 | 180072 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 125 | 8789 | 180073 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 322 | 18145 | 300414 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 144 | 32528 | 610598 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 928 | 9454 | 604365 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROP1 CL E G H | 5626 | 262600 | Pituitary hormone deficiency, combined 2 | 262600 | C0878683 | OMIM | 1 | | 261 | 9455 | 601538 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 325 | 17348 | 607301 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 629 | 15446 | 606419 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 305 | 17349 | 607795 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 581 | 15860 | 613979 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1240 | 17340 | 607300 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 702 | 9942 | 179605 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 498 | 19129 | 610936 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1038 | 9921 | 180290 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 30078 | 609346 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 279 | 9990 | 600342 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 537 | 10012 | 180380 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 314 | 10024 | 180090 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 311 | 10254 | 180721 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1318 | 10263 | 603937 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 484 | 10274 | 300757 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 132 | 10288 | 607331 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1433 | 10295 | 312610 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 430 | 10521 | 181031 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 157 | 13081 | 611611 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SDCCAG8 CL E G H | 10806 | 615993 | Bardet-Biedl syndrome 16 | 615993 | C3889474 | OMIM | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 530 | 10729 | 607292 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 1 | | 400 | 19353 | 607776 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 736 | 17129 | 607059 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 461 | 29326 | 615720 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMCHD1 CL E G H | 23347 | 603457 | Arhinia choanal atresia microphthalmia | 603457 | C1863878 | OMIM | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1073 | 30859 | 601664 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX10 CL E G H | 6663 | 613266 | Waardenburg syndrome type 4C | 613266 | C2750452 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STEAP3 CL E G H | 55240 | 615234 | Hypochromic microcytic anemia with iron overload 2 | 615234 | C3808920 | OMIM | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 583 | 21653 | 609507 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRIM32 CL E G H | 22954 | 615988 | Bardet-Biedl syndrome 11 | 615988 | C1859569 | OMIM | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TTC8 CL E G H | 123016 | 615985 | Bardet-Biedl syndrome 8 | 615985 | C1859566 | OMIM | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 477 | 12406 | 601197 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 7040 | 12601 | 608400 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 494 | 20041 | 616454 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 376 | 26498 | 613598 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3233 | 34 | 601691 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3233 | 34 | 601691 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3233 | 34 | 601691 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3233 | 34 | 601691 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 601 | 26147 | 615900 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 601 | 26147 | 615900 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 601 | 26147 | 615900 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 601 | 26147 | 615900 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1194 | 21575 | 608894 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1194 | 21575 | 608894 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1194 | 21575 | 608894 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1194 | 21575 | 608894 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 479 | 348 | 600253 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 479 | 348 | 600253 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 479 | 348 | 600253 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 479 | 348 | 600253 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ALG1 CL E G H | 56052 | 79327 | | | | ORPHA | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 648 | 18294 | 605907 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | AR CL E G H | 367 | 312300 | Partial androgen insensitivity syndrome | 312300 | C0268301 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AR CL E G H | 367 | 312300 | Partial androgen insensitivity syndrome | 312300 | C0268301 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | AR CL E G H | 367 | 312300 | Partial androgen insensitivity syndrome | 312300 | C0268301 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | AR CL E G H | 367 | 312300 | Partial androgen insensitivity syndrome | 312300 | C0268301 | OMIM | 1 | | 649 | 644 | 313700 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 912 | 17090 | 616432 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 912 | 17090 | 616432 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 912 | 17090 | 616432 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 912 | 17090 | 616432 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 113 | 17146 | 615407 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 113 | 17146 | 615407 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 113 | 17146 | 615407 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 113 | 17146 | 615407 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 137 | 694 | 604695 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 137 | 694 | 604695 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 137 | 694 | 604695 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 137 | 694 | 604695 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 201 | 13210 | 608845 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 98 | 28093 | 613605 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 98 | 28093 | 613605 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 98 | 28093 | 613605 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 98 | 28093 | 613605 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 756 | 26291 | 610148 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 634 | 26648 | 610683 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 894 | 967 | 606151 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS4 CL E G H | 585 | 615982 | Bardet-Biedl syndrome 4 | 615982 | C2936864 | OMIM | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS4 CL E G H | 585 | 615982 | Bardet-Biedl syndrome 4 | 615982 | C2936864 | OMIM | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS4 CL E G H | 585 | 615982 | Bardet-Biedl syndrome 4 | 615982 | C2936864 | OMIM | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS4 CL E G H | 585 | 615982 | Bardet-Biedl syndrome 4 | 615982 | C2936864 | OMIM | 1 | | 563 | 969 | 600374 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 288 | 970 | 603650 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 506 | 18758 | 607590 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 506 | 18758 | 607590 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 506 | 18758 | 607590 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 506 | 18758 | 607590 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 775 | 30000 | 607968 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 775 | 30000 | 607968 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 775 | 30000 | 607968 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 775 | 30000 | 607968 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BCS1L CL E G H | 617 | 262000 | Pili torti-deafness syndrome | 262000 | C0266006 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BCS1L CL E G H | 617 | 262000 | Pili torti-deafness syndrome | 262000 | C0266006 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BCS1L CL E G H | 617 | 262000 | Pili torti-deafness syndrome | 262000 | C0266006 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BCS1L CL E G H | 617 | 262000 | Pili torti-deafness syndrome | 262000 | C0266006 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 793 | 12703 | 607854 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 793 | 12703 | 607854 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 793 | 12703 | 607854 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 793 | 12703 | 607854 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 283 | 1375 | 114760 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 283 | 1375 | 114760 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 283 | 1375 | 114760 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 283 | 1375 | 114760 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 53 | 26276 | 609559 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 890 | 14550 | 609502 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 890 | 14550 | 609502 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 890 | 14550 | 609502 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 890 | 14550 | 609502 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CDKN1C CL E G H | 1028 | 85173 | | | | ORPHA | 1 | | 1068 | 1786 | 600856 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CDKN1C CL E G H | 1028 | 85173 | | | | ORPHA | 1 | | 1068 | 1786 | 600856 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CDKN1C CL E G H | 1028 | 85173 | | | | ORPHA | 1 | | 1068 | 1786 | 600856 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CDKN1C CL E G H | 1028 | 85173 | | | | ORPHA | 1 | | 1068 | 1786 | 600856 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 782 | 21699 | 608381 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 782 | 21699 | 608381 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 782 | 21699 | 608381 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 782 | 21699 | 608381 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 257 | 1967 | 100730 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 257 | 1967 | 100730 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 257 | 1967 | 100730 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 257 | 1967 | 100730 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 12605 | 606397 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 12605 | 606397 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 12605 | 606397 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 12605 | 606397 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CNBP CL E G H | 7555 | 602668 | Myotonic dystrophy type 2 | 602668 | C2931689 | OMIM | 1 | | 24 | 13164 | 116955 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 456 | 2148 | 123825 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 456 | 2148 | 123825 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 456 | 2148 | 123825 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 456 | 2148 | 123825 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1179 | 2151 | 600724 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1179 | 2151 | 600724 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1179 | 2151 | 600724 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1179 | 2151 | 600724 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 142 | 2718 | 600811 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 764 | 17211 | 605584 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 764 | 17211 | 605584 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 764 | 17211 | 605584 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 764 | 17211 | 605584 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 273 | 2933 | 605377 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 273 | 2933 | 605377 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 273 | 2933 | 605377 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 273 | 2933 | 605377 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 1216 | 2938 | 612186 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 523 | 3435 | 133510 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3830 | 21555 | 612424 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3830 | 21555 | 612424 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3830 | 21555 | 612424 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | EYS CL E G H | 346007 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 3830 | 21555 | 612424 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 699 | 25808 | 613596 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 699 | 25808 | 613596 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 699 | 25808 | 613596 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FAM161A CL E G H | 84140 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 699 | 25808 | 613596 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FEZF1 CL E G H | 389549 | 616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | 616030 | C4014988 | OMIM | 1 | | 109 | 22788 | 613301 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FEZF1 CL E G H | 389549 | 616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | 616030 | C4014988 | OMIM | 1 | | 109 | 22788 | 613301 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FEZF1 CL E G H | 389549 | 616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | 616030 | C4014988 | OMIM | 1 | | 109 | 22788 | 613301 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FEZF1 CL E G H | 389549 | 616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | 616030 | C4014988 | OMIM | 1 | | 109 | 22788 | 613301 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 580 | 3960 | 607643 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 580 | 3960 | 607643 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 580 | 3960 | 607643 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FSCN2 CL E G H | 25794 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 580 | 3960 | 607643 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FSHB CL E G H | 2488 | 229070 | Follicle-stimulating hormone deficiency, isolated | 229070 | C1856716 | OMIM | 1 | | 71 | 3964 | 136530 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FSHB CL E G H | 2488 | 229070 | Follicle-stimulating hormone deficiency, isolated | 229070 | C1856716 | OMIM | 1 | | 71 | 3964 | 136530 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FSHB CL E G H | 2488 | 229070 | Follicle-stimulating hormone deficiency, isolated | 229070 | C1856716 | OMIM | 1 | | 71 | 3964 | 136530 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FSHB CL E G H | 2488 | 229070 | Follicle-stimulating hormone deficiency, isolated | 229070 | C1856716 | OMIM | 1 | | 71 | 3964 | 136530 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GLI2 CL E G H | 2736 | 615849 | Culler-Jones syndrome | 615849 | C4014479 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GLI2 CL E G H | 2736 | 615849 | Culler-Jones syndrome | 615849 | C4014479 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GLI2 CL E G H | 2736 | 615849 | Culler-Jones syndrome | 615849 | C4014479 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GLI2 CL E G H | 2736 | 615849 | Culler-Jones syndrome | 615849 | C4014479 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 4679 | 602275 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 4679 | 602275 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 4679 | 602275 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GUCA1B CL E G H | 2979 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 215 | 4679 | 602275 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | HAMP CL E G H | 57817 | 79230 | | | | ORPHA | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HAMP CL E G H | 57817 | 613313 | Hemochromatosis type 2B | 613313 | C1865616 | OMIM | 1 | | 67 | 15598 | 606464 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 381 | 13315 | 300269 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 381 | 13315 | 300269 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 381 | 13315 | 300269 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HDAC8 CL E G H | 55869 | 300882 | Cornelia de Lange syndrome 5 | 300882 | C3550903 | OMIM | 1 | | 381 | 13315 | 300269 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | HFE CL E G H | 3077 | 465508 | | | | ORPHA | 1 | | 237 | 4886 | 613609 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1049 | 26527 | 610453 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1049 | 26527 | 610453 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1049 | 26527 | 610453 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HGSNAT CL E G H | 138050 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1049 | 26527 | 610453 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HJV CL E G H | 148738 | 79230 | | | | ORPHA | 1 | | 470 | 4887 | 608374 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 299 | 5385 | 604526 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 299 | 5385 | 604526 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 299 | 5385 | 604526 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IDH3B CL E G H | 3420 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 299 | 5385 | 604526 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT140 CL E G H | 9742 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT172 CL E G H | 26160 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1356 | 30391 | 607386 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT27 CL E G H | 11020 | 615996 | Bardet-Biedl syndrome 19 | 615996 | C3889475 | OMIM | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT27 CL E G H | 11020 | 615996 | Bardet-Biedl syndrome 19 | 615996 | C3889475 | OMIM | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT27 CL E G H | 11020 | 615996 | Bardet-Biedl syndrome 19 | 615996 | C3889475 | OMIM | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT27 CL E G H | 11020 | 615996 | Bardet-Biedl syndrome 19 | 615996 | C3889475 | OMIM | 1 | | 161 | 18626 | 615870 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 523 | 21424 | 608040 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 523 | 21424 | 608040 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 523 | 21424 | 608040 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT74 CL E G H | 80173 | 617119 | Bardet-Biedl syndrome 20 | 617119 | C4310707 | OMIM | 1 | | 523 | 21424 | 608040 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 390 | 20606 | 600595 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 390 | 20606 | 600595 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 390 | 20606 | 600595 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IFT88 CL E G H | 8100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 390 | 20606 | 600595 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 197 | 5464 | 147440 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 197 | 5464 | 147440 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 197 | 5464 | 147440 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 1 | | 197 | 5464 | 147440 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IL17RD CL E G H | 54756 | 615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | 615267 | C3808975 | OMIM | 1 | | 163 | 17616 | 606807 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IL17RD CL E G H | 54756 | 615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | 615267 | C3808975 | OMIM | 1 | | 163 | 17616 | 606807 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IL17RD CL E G H | 54756 | 615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | 615267 | C3808975 | OMIM | 1 | | 163 | 17616 | 606807 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IL17RD CL E G H | 54756 | 615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | 615267 | C3808975 | OMIM | 1 | | 163 | 17616 | 606807 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IMPDH1 CL E G H | 3614 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 909 | 18362 | 607056 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 909 | 18362 | 607056 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 909 | 18362 | 607056 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IMPG2 CL E G H | 50939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 909 | 18362 | 607056 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 187 | 33882 | 607875 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1327 | 22219 | 613344 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1327 | 22219 | 613344 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1327 | 22219 | 613344 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | KIAA1549 CL E G H | 57670 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1327 | 22219 | 613344 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 416 | 15865 | 615757 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 416 | 15865 | 615757 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 416 | 15865 | 615757 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | KIZ CL E G H | 55857 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 416 | 15865 | 615757 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 337 | 15646 | 611119 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 337 | 15646 | 611119 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 337 | 15646 | 611119 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | KLHL7 CL E G H | 55975 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 337 | 15646 | 611119 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LEP CL E G H | 3952 | 614962 | Leptin deficiency or dysfunction | 614962 | C3554224 | OMIM | 1 | | 129 | 6553 | 164160 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LEP CL E G H | 3952 | 614962 | Leptin deficiency or dysfunction | 614962 | C3554224 | OMIM | 1 | | 129 | 6553 | 164160 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LEP CL E G H | 3952 | 614962 | Leptin deficiency or dysfunction | 614962 | C3554224 | OMIM | 1 | | 129 | 6553 | 164160 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LEP CL E G H | 3952 | 614962 | Leptin deficiency or dysfunction | 614962 | C3554224 | OMIM | 1 | | 129 | 6553 | 164160 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LRAT CL E G H | 9227 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 162 | 6741 | 606568 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 445 | 6816 | 154235 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 445 | 6816 | 154235 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 445 | 6816 | 154235 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MAK CL E G H | 4117 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 445 | 6816 | 154235 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 815 | 7027 | 604705 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 815 | 7027 | 604705 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 815 | 7027 | 604705 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MERTK CL E G H | 10461 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 815 | 7027 | 604705 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 1 | | 432 | 7108 | 604896 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 1 | | 432 | 7108 | 604896 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 1 | | 432 | 7108 | 604896 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 1 | | 432 | 7108 | 604896 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MRPS7 CL E G H | 51081 | 617872 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 | 617872 | CN807947 | OMIM | 1 | | 93 | 14499 | 611974 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 233 | 9706 | 600644 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 233 | 9706 | 600644 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 233 | 9706 | 600644 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | NECTIN1 CL E G H | 5818 | 3253 | Limb dystonia | | | ORPHA | 1 | | 233 | 9706 | 600644 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 216 | 7745 | 604043 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 216 | 7745 | 604043 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 216 | 7745 | 604043 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NEK2 CL E G H | 4751 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 216 | 7745 | 604043 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 1 | | 815 | 7905 | 607100 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 1 | | 815 | 7905 | 607100 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 1 | | 815 | 7905 | 607100 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 1 | | 815 | 7905 | 607100 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 7974 | 604485 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 7974 | 604485 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 7974 | 604485 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NR2E3 CL E G H | 10002 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 607 | 7974 | 604485 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 8002 | 162080 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 8002 | 162080 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 8002 | 162080 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NRL CL E G H | 4901 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 358 | 8002 | 162080 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1020 | 2567 | 300170 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1020 | 2567 | 300170 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1020 | 2567 | 300170 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | OFD1 CL E G H | 8481 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1020 | 2567 | 300170 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1022 | 34383 | 613425 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1022 | 34383 | 613425 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1022 | 34383 | 613425 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PCARE CL E G H | 388939 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1022 | 34383 | 613425 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE11A CL E G H | 50940 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 203 | 8773 | 604961 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE4D CL E G H | 5144 | 280651 | | | | ORPHA | 1 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 834 | 8785 | 180071 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 834 | 8785 | 180071 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 834 | 8785 | 180071 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE6A CL E G H | 5145 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 834 | 8785 | 180071 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1142 | 8786 | 180072 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1142 | 8786 | 180072 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1142 | 8786 | 180072 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE6B CL E G H | 5158 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1142 | 8786 | 180072 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 125 | 8789 | 180073 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 125 | 8789 | 180073 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 125 | 8789 | 180073 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE6G CL E G H | 5148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 125 | 8789 | 180073 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE8B CL E G H | 8622 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 243 | 8794 | 603390 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 322 | 18145 | 300414 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 322 | 18145 | 300414 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 322 | 18145 | 300414 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 322 | 18145 | 300414 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 4378 | 9175 | 174761 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | POMGNT1 CL E G H | 55624 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 45 | 9276 | 603770 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 144 | 32528 | 610598 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 144 | 32528 | 610598 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 144 | 32528 | 610598 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRCD CL E G H | 768206 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 144 | 32528 | 610598 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 708 | 30228 | 609557 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRKACA CL E G H | 5566 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 43 | 9380 | 601639 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 280651 | | | | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 189439 | Primary pigmented nodular adrenocortical disease | | CN200645 | ORPHA | 1 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 928 | 9454 | 604365 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 928 | 9454 | 604365 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 928 | 9454 | 604365 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PROM1 CL E G H | 8842 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 928 | 9454 | 604365 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PROP1 CL E G H | 5626 | 262600 | Pituitary hormone deficiency, combined 2 | 262600 | C0878683 | OMIM | 1 | | 261 | 9455 | 601538 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PROP1 CL E G H | 5626 | 262600 | Pituitary hormone deficiency, combined 2 | 262600 | C0878683 | OMIM | 1 | | 261 | 9455 | 601538 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROP1 CL E G H | 5626 | 262600 | Pituitary hormone deficiency, combined 2 | 262600 | C0878683 | OMIM | 1 | | 261 | 9455 | 601538 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PROP1 CL E G H | 5626 | 262600 | Pituitary hormone deficiency, combined 2 | 262600 | C0878683 | OMIM | 1 | | 261 | 9455 | 601538 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 325 | 17348 | 607301 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 325 | 17348 | 607301 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 325 | 17348 | 607301 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRPF3 CL E G H | 9129 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 325 | 17348 | 607301 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 629 | 15446 | 606419 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 629 | 15446 | 606419 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 629 | 15446 | 606419 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRPF31 CL E G H | 26121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 629 | 15446 | 606419 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 305 | 17349 | 607795 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 305 | 17349 | 607795 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 305 | 17349 | 607795 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRPF4 CL E G H | 9128 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 305 | 17349 | 607795 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 581 | 15860 | 613979 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 581 | 15860 | 613979 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 581 | 15860 | 613979 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRPF6 CL E G H | 24148 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 581 | 15860 | 613979 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1240 | 17340 | 607300 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1240 | 17340 | 607300 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1240 | 17340 | 607300 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRPF8 CL E G H | 10594 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1240 | 17340 | 607300 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 702 | 9942 | 179605 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 702 | 9942 | 179605 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 702 | 9942 | 179605 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRPH2 CL E G H | 5961 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 702 | 9942 | 179605 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 498 | 19129 | 610936 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 498 | 19129 | 610936 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 498 | 19129 | 610936 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 1 | | 498 | 19129 | 610936 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1038 | 9921 | 180290 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1038 | 9921 | 180290 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1038 | 9921 | 180290 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RBP3 CL E G H | 5949 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1038 | 9921 | 180290 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RDH12 CL E G H | 145226 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RECQL4 CL E G H | 9401 | 268400 | Rothmund-Thomson syndrome | 268400 | C0032339 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 30078 | 609346 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 30078 | 609346 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 30078 | 609346 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | REEP6 CL E G H | 92840 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 266 | 30078 | 609346 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 279 | 9990 | 600342 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 279 | 9990 | 600342 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 279 | 9990 | 600342 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RGR CL E G H | 5995 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 279 | 9990 | 600342 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 537 | 10012 | 180380 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 537 | 10012 | 180380 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 537 | 10012 | 180380 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RHO CL E G H | 6010 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 537 | 10012 | 180380 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 314 | 10024 | 180090 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 314 | 10024 | 180090 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 314 | 10024 | 180090 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RLBP1 CL E G H | 6017 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 314 | 10024 | 180090 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 311 | 10254 | 180721 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 311 | 10254 | 180721 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 311 | 10254 | 180721 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ROM1 CL E G H | 6094 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 311 | 10254 | 180721 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1318 | 10263 | 603937 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1318 | 10263 | 603937 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1318 | 10263 | 603937 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RP1 CL E G H | 6101 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1318 | 10263 | 603937 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 484 | 10274 | 300757 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 484 | 10274 | 300757 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 484 | 10274 | 300757 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RP2 CL E G H | 6102 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 484 | 10274 | 300757 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 132 | 10288 | 607331 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 132 | 10288 | 607331 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 132 | 10288 | 607331 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RP9 CL E G H | 6100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 132 | 10288 | 607331 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RPE65 CL E G H | 6121 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1433 | 10295 | 312610 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1433 | 10295 | 312610 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1433 | 10295 | 312610 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RPGR CL E G H | 6103 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1433 | 10295 | 312610 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 430 | 10521 | 181031 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 430 | 10521 | 181031 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 430 | 10521 | 181031 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SAG CL E G H | 6295 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 430 | 10521 | 181031 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 157 | 13081 | 611611 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 157 | 13081 | 611611 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 157 | 13081 | 611611 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SCAPER CL E G H | 49855 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 157 | 13081 | 611611 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 615993 | Bardet-Biedl syndrome 16 | 615993 | C3889474 | OMIM | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 615993 | Bardet-Biedl syndrome 16 | 615993 | C3889474 | OMIM | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 615993 | Bardet-Biedl syndrome 16 | 615993 | C3889474 | OMIM | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SDCCAG8 CL E G H | 10806 | 615993 | Bardet-Biedl syndrome 16 | 615993 | C3889474 | OMIM | 1 | | 651 | 10671 | 613524 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 530 | 10729 | 607292 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 530 | 10729 | 607292 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 530 | 10729 | 607292 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SEMA4A CL E G H | 64218 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 530 | 10729 | 607292 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 352 | 24624 | 608005 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 1 | | 400 | 19353 | 607776 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 1 | | 400 | 19353 | 607776 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 1 | | 400 | 19353 | 607776 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 1 | | 400 | 19353 | 607776 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 736 | 17129 | 607059 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 736 | 17129 | 607059 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 736 | 17129 | 607059 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 736 | 17129 | 607059 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 429 | 11025 | 104614 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 461 | 29326 | 615720 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 461 | 29326 | 615720 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 461 | 29326 | 615720 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLC7A14 CL E G H | 57709 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 461 | 29326 | 615720 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 603457 | Arhinia choanal atresia microphthalmia | 603457 | C1863878 | OMIM | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 603457 | Arhinia choanal atresia microphthalmia | 603457 | C1863878 | OMIM | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 603457 | Arhinia choanal atresia microphthalmia | 603457 | C1863878 | OMIM | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 603457 | Arhinia choanal atresia microphthalmia | 603457 | C1863878 | OMIM | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 1341 | 29090 | 614982 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1073 | 30859 | 601664 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1073 | 30859 | 601664 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1073 | 30859 | 601664 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNRNP200 CL E G H | 23020 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1073 | 30859 | 601664 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOX10 CL E G H | 6663 | 613266 | Waardenburg syndrome type 4C | 613266 | C2750452 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SOX10 CL E G H | 6663 | 613266 | Waardenburg syndrome type 4C | 613266 | C2750452 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SOX10 CL E G H | 6663 | 613266 | Waardenburg syndrome type 4C | 613266 | C2750452 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SOX10 CL E G H | 6663 | 613266 | Waardenburg syndrome type 4C | 613266 | C2750452 | OMIM | 1 | | 378 | 11190 | 602229 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SPATA7 CL E G H | 55812 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | STEAP3 CL E G H | 55240 | 615234 | Hypochromic microcytic anemia with iron overload 2 | 615234 | C3808920 | OMIM | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | STEAP3 CL E G H | 55240 | 615234 | Hypochromic microcytic anemia with iron overload 2 | 615234 | C3808920 | OMIM | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | STEAP3 CL E G H | 55240 | 615234 | Hypochromic microcytic anemia with iron overload 2 | 615234 | C3808920 | OMIM | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | STEAP3 CL E G H | 55240 | 615234 | Hypochromic microcytic anemia with iron overload 2 | 615234 | C3808920 | OMIM | 1 | | 94 | 24592 | 609671 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | STUB1 CL E G H | 10273 | 615768 | Spinocerebellar ataxia, autosomal recessive 16 | 615768 | C4014261 | OMIM | 1 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 583 | 21653 | 609507 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 583 | 21653 | 609507 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 583 | 21653 | 609507 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TOPORS CL E G H | 10210 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 583 | 21653 | 609507 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRIM32 CL E G H | 22954 | 615988 | Bardet-Biedl syndrome 11 | 615988 | C1859569 | OMIM | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TRIM32 CL E G H | 22954 | 615988 | Bardet-Biedl syndrome 11 | 615988 | C1859569 | OMIM | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TRIM32 CL E G H | 22954 | 615988 | Bardet-Biedl syndrome 11 | 615988 | C1859569 | OMIM | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TRIM32 CL E G H | 22954 | 615988 | Bardet-Biedl syndrome 11 | 615988 | C1859569 | OMIM | 1 | | 627 | 16380 | 602290 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TTC8 CL E G H | 123016 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TTC8 CL E G H | 123016 | 615985 | Bardet-Biedl syndrome 8 | 615985 | C1859566 | OMIM | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TTC8 CL E G H | 123016 | 615985 | Bardet-Biedl syndrome 8 | 615985 | C1859566 | OMIM | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TTC8 CL E G H | 123016 | 615985 | Bardet-Biedl syndrome 8 | 615985 | C1859566 | OMIM | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TTC8 CL E G H | 123016 | 615985 | Bardet-Biedl syndrome 8 | 615985 | C1859566 | OMIM | 1 | | 427 | 20087 | 608132 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 477 | 12406 | 601197 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 477 | 12406 | 601197 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 477 | 12406 | 601197 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TUB CL E G H | 7275 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 477 | 12406 | 601197 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TULP1 CL E G H | 7287 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 7040 | 12601 | 608400 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 7040 | 12601 | 608400 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 7040 | 12601 | 608400 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | USH2A CL E G H | 7399 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 7040 | 12601 | 608400 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | WRN CL E G H | 7486 | 902 | Blepharo naso facial syndrome Van maldergem type | | | ORPHA | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | WRN CL E G H | 7486 | 277700 | Werner syndrome | 277700 | C0043119 | OMIM | 1 | | 3130 | 12791 | 604611 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 321 | 12814 | 611153 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 788 | 12816 | 613208 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 494 | 20041 | 616454 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 494 | 20041 | 616454 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 494 | 20041 | 616454 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ZNF408 CL E G H | 79797 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 494 | 20041 | 616454 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 376 | 26498 | 613598 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 376 | 26498 | 613598 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 376 | 26498 | 613598 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ZNF513 CL E G H | 130557 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 376 | 26498 | 613598 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 0 | | 142 | 21014 | 606410 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BCS1L CL E G H | 617 | 123 | | | | ORPHA | 0 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 1182 | 1097 | 164757 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 0 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 0 | | 140 | 18550 | 609382 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 493 | 6840 | 176872 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE4D CL E G H | 5144 | 950 | | | | ORPHA | 0 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PHGDH CL E G H | 26227 | 79351 | | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 950 | | | | ORPHA | 0 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 520 | 30224 | 607882 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 464 | 16187 | 613350 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 0 | | 658 | 11133 | 604202 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STS CL E G H | 412 | 281090 | | | | ORPHA | 0 | | 475 | 11425 | 300747 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 0 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 0 | | 142 | 21014 | 606410 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 0 | | 142 | 21014 | 606410 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 0 | | 142 | 21014 | 606410 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 0 | | 142 | 21014 | 606410 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BCS1L CL E G H | 617 | 123 | | | | ORPHA | 0 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BCS1L CL E G H | 617 | 123 | | | | ORPHA | 0 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BCS1L CL E G H | 617 | 123 | | | | ORPHA | 0 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BCS1L CL E G H | 617 | 123 | | | | ORPHA | 0 | | 413 | 1020 | 603647 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 1182 | 1097 | 164757 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 1182 | 1097 | 164757 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 1182 | 1097 | 164757 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 1182 | 1097 | 164757 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 0 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 0 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 0 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 0 | | 415 | 2555 | 300304 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 0 | | 474 | 4084 | 137163 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 0 | | 140 | 18550 | 609382 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 0 | | 140 | 18550 | 609382 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 0 | | 140 | 18550 | 609382 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 0 | | 140 | 18550 | 609382 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 0 | | 114 | 6229 | 601142 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 493 | 6840 | 176872 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 493 | 6840 | 176872 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 493 | 6840 | 176872 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 493 | 6840 | 176872 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PDE4D CL E G H | 5144 | 950 | | | | ORPHA | 0 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PDE4D CL E G H | 5144 | 950 | | | | ORPHA | 0 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PDE4D CL E G H | 5144 | 950 | | | | ORPHA | 0 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDE4D CL E G H | 5144 | 950 | | | | ORPHA | 0 | | 475 | 8783 | 600129 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PHGDH CL E G H | 26227 | 79351 | | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PHGDH CL E G H | 26227 | 79351 | | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PHGDH CL E G H | 26227 | 79351 | | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PHGDH CL E G H | 26227 | 79351 | | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 0 | | 1272 | 14000 | 605557 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 950 | | | | ORPHA | 0 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 950 | | | | ORPHA | 0 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 950 | | | | ORPHA | 0 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRKAR1A CL E G H | 5573 | 950 | | | | ORPHA | 0 | | 1131 | 9388 | 188830 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 0 | | 854 | 9644 | 176876 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 0 | | 659 | 9965 | 605226 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 0 | | 1062 | 10896 | 164780 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 520 | 30224 | 607882 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 520 | 30224 | 607882 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 520 | 30224 | 607882 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 0 | | 520 | 30224 | 607882 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 464 | 16187 | 613350 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 464 | 16187 | 613350 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 464 | 16187 | 613350 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 0 | | 464 | 16187 | 613350 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SMAD4 CL E G H | 4089 | 2588 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 0 | | 658 | 11133 | 604202 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 0 | | 658 | 11133 | 604202 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 0 | | 658 | 11133 | 604202 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 0 | | 658 | 11133 | 604202 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | STS CL E G H | 412 | 281090 | | | | ORPHA | 0 | | 475 | 11425 | 300747 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | STS CL E G H | 412 | 281090 | | | | ORPHA | 0 | | 475 | 11425 | 300747 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | STS CL E G H | 412 | 281090 | | | | ORPHA | 0 | | 475 | 11425 | 300747 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | STS CL E G H | 412 | 281090 | | | | ORPHA | 0 | | 475 | 11425 | 300747 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 0 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 0 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 0 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | STUB1 CL E G H | 10273 | 412057 | | | | ORPHA | 0 | | 226 | 11427 | 607207 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 0 | | 450 | 1160 | 606075 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |