Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000026 | HP:0000026 | Male 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:0000026 | HP:0000026 | Male hypogonadism | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040284 - Very rare | | | 20 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040284 - Very rare | | | 158 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040284 - Very rare | | | 199 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040284 - Very rare | | | 199 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040284 - Very rare | | | 55 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040284 - Very rare | | | 55 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040280 - Obligate | | | 23 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 48 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 24 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0000026 | HP:0000026 | Male hypogonadism | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040282 - Frequent | | | 389 | | |