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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | AXL CL E G H | 558 | 905 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CBX2 CL E G H | 84733 | 1552 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CCDC141 CL E G H | 285025 | 26821 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:612370 | Hypogonadotropic hypogonadism 5 with or without anosmia | | | | 515 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 36 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 21 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DMRT1 CL E G H | 1761 | 2934 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:615269 | Hypogonadotropic hypogonadism 19 with or without anosmia | | | | 4 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 4 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | . | | | 17 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040280 - Obligate | | | 23 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040282 - Frequent | | | 199 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | . | | | 15 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 15 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRHR CL E G H | 2798 | 4421 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 92 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic 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 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | . | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LAS1L CL E G H | 81887 | 25726 | ORPHA:3459 | Wilson-Turner syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 63 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | . | | | 65 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 464 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH | | | | 2 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | . | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040284 - Very rare | | | 9 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RNF216 CL E G H | 54476 | 21698 | OMIM:212840 | Cerebellar ataxia and hypogonadotropic hypogonadism | . | | | 10 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SEMA3E CL E G H | 9723 | 10727 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 16 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 37 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | 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:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | | | | 5 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 5 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SRA1 CL E G H | 10011 | 11281 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TAC3 CL E G H | 6866 | 11521 | OMIM:614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | . | | | 6 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 138 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | | | | 10 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:146110 | Hypogonadotropic hypogonadism 7 without anosmia | . | | | 10 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0000044 | HP:0000044 | Hypogonadotropic hypogonadism | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |