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:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | | | | 25 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 515 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | 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:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | 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:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:273250 | 46, XY sex reversal 11 | | | | 2 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | | | | 3 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 4 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 17 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 172 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | GCNA CL E G H | 93953 | 15805 | OMIM:301077 | SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4 | | | | | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 15 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 92 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 8 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 3 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 14 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | LGR4 CL E G H | 55366 | 13299 | OMIM:619613 | DELAYED PUBERTY, SELF-LIMITED; DPSL | | | | 1 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | | | | 2 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 9 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | | | | 55 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 5 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 6 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 34 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | | | | 10 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0030349 | HP:0030349 | Decreased circulating androgen concentration | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | HP:0040284 - Very rare | | | 25 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | HP:0040283 - Occasional | | | 25 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 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:0030349 | HP:0040171 | Decreased serum testosterone concentration | 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:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 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:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DHX37 CL E G H | 57647 | 17210 | OMIM:273250 | 46, XY sex reversal 11 | | | | 2 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | GCNA CL E G H | 93953 | 15805 | OMIM:301077 | SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4 | | | | | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | . | | | 15 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | LGR4 CL E G H | 55366 | 13299 | OMIM:619613 | DELAYED PUBERTY, SELF-LIMITED; DPSL | | | | 1 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0030349 | HP:0033810 | Decreased circulating dihydrotestosterone concentration | 1 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040282 - Frequent | | | 2 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0030349 | HP:0040171 | Decreased serum testosterone concentration | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |