Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AR CL E G H | 367 | 644 | OMIM:312300 | Reifenstein syndrome | . | | | 125 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS10 CL E G H | 79738 | 26291 | OMIM:615987 | Bardet-Biedl syndrome 10 | . | | | 118 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS12 CL E G H | 166379 | 26648 | OMIM:615989 | Bardet-Biedl syndrome 12 | . | | | 71 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 97 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS2 CL E G H | 583 | 967 | OMIM:615981 | Bardet-Biedl syndrome 2 | . | | | 97 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS4 CL E G H | 585 | 969 | OMIM:615982 | Bardet-Biedl syndrome 4 | . | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS5 CL E G H | 129880 | 970 | OMIM:615983 | Bardet-Biedl syndrome 5 | . | | | 25 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BCS1L CL E G H | 617 | 1020 | ORPHA:123 | Björnstad syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | | | | 16 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | | | | 13 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | HP:0040283 - Occasional | | | 276 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CBX2 CL E G H | 84733 | 1552 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:612370 | Hypogonadotropic hypogonadism 5 with or without anosmia | | | | 515 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CLPP CL E G H | 8192 | 2084 | OMIM:614129 | Perrault syndrome 3 | | | | 13 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | . | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040283 - Occasional | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:613546 | Aromatase deficiency | | | | 60 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | | | | 60 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | | | | 36 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 21 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMRT1 CL E G H | 1761 | 2934 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMXL2 CL E G H | 23312 | 2938 | OMIM:616113 | Polyendocrine-Polyneuropathy syndrome | . | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:615269 | Hypogonadotropic hypogonadism 19 with or without anosmia | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 199 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | . | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | . | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | . | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | | | | 351 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | | | | 199 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 15 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 92 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HAMP CL E G H | 57817 | 15598 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040282 - Frequent | | | 15 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040284 - Very rare | | | 580 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HJV CL E G H | 148738 | 4887 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HSD17B3 CL E G H | 3293 | 5212 | ORPHA:752 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | | | | 31 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT27 CL E G H | 11020 | 18626 | OMIM:615996 | Bardet-Biedl syndrome 19 | . | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | . | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LHCGR CL E G H | 3973 | 6585 | OMIM:238320 | Hypergonadotropic hypogonadism | | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | | | | 645 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | HP:0040283 - Occasional | | | 134 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 13 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | | | | 65 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:950 | Acrodysostosis | HP:0040283 - Occasional | | | 113 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 113 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PHF6 CL E G H | 84295 | 18145 | ORPHA:127 | Borjeson-Forssman-Lehmann syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome | | | | 103 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLE CL E G H | 5426 | 9177 | ORPHA:85173 | IMAGe syndrome | HP:0040281 - Very frequent | | | 1129 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | | | | 138 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3B CL E G H | 55703 | 30348 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:950 | Acrodysostosis | HP:0040283 - Occasional | | | 134 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 134 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | . | | | 54 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | | | | 665 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | | | | 40 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040283 - Occasional | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | HP:0040283 - Occasional | | | 291 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 90 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 135 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RNF216 CL E G H | 54476 | 21698 | OMIM:212840 | Cerebellar ataxia and hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SDCCAG8 CL E G H | 10806 | 10671 | OMIM:615993 | Bardet-Biedl syndrome 16 | . | | | 61 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 16 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040283 - Occasional | | | 504 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 174 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040282 - Frequent | | | 61 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 24 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 109 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 109 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040282 - Frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040283 - Occasional | | | 19 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | . | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | | | | 124 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TAC3 CL E G H | 6866 | 11521 | OMIM:614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | . | | | 911 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | OMIM:616629 | Senior-Loken syndrome 9 | HP:0040283 - Occasional | | | 6 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:615988 | Bardet-Biedl syndrome 11 | . | | | 108 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:615985 | Bardet-Biedl syndrome 8 | . | | | 41 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | HP:0040283 - Occasional | | | 113 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | | | | 389 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WRN CL E G H | 7486 | 12791 | OMIM:277700 | Werner syndrome | . | | | 310 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 177 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | | | | 177 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000135 | HP:0000135 | Hypogonadism | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | . | | | 44 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | . | | | 16 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CBX2 CL E G H | 84733 | 1552 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:612370 | Hypogonadotropic hypogonadism 5 with or without anosmia | | | | 515 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CLPP CL E G H | 8192 | 2084 | OMIM:614129 | Perrault syndrome 3 | . | | | 13 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:613546 | Aromatase deficiency | . | | | 60 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 36 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 21 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DMRT1 CL E G H | 1761 | 2934 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:615269 | Hypogonadotropic hypogonadism 19 with or without anosmia | | | | 4 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040284 - Very rare | | | 20 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040284 - Very rare | | | 158 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040284 - Very rare | | | 199 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040284 - Very rare | | | 199 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040284 - Very rare | | | 55 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040284 - Very rare | | | 55 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | . | | | 17 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040280 - Obligate | | | 23 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040280 - Obligate | | | 23 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040280 - Obligate | | | 23 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040282 - Frequent | | | 199 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | . | | | 15 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | HSD17B3 CL E G H | 3293 | 5212 | ORPHA:752 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | . | | | 3 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | . | | | 46 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LHCGR CL E G H | 3973 | 6585 | OMIM:238320 | Hypergonadotropic hypogonadism | . | | | 67 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 63 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040284 - Very rare | | | 11 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 48 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | . | | | 65 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 464 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 464 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | POLR3B CL E G H | 55703 | 30348 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 67 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | . | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 9 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RNF216 CL E G H | 54476 | 21698 | OMIM:212840 | Cerebellar ataxia and hypogonadotropic hypogonadism | . | | | 10 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 37 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 24 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | | | | 5 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TAC3 CL E G H | 6866 | 11521 | OMIM:614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | . | | | 6 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | . | | | 113 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 138 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 138 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | | | | 10 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0000135 | HP:0000026 | Male hypogonadism | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040282 - Frequent | | | 389 | | |
HP:0000135 | HP:0000044 | Hypogonadotropic hypogonadism | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000135 | HP:0000815 | Hypergonadotropic hypogonadism | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000135 | HP:0000134 | Female hypogonadism | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |