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:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | . | | | 44 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | . | | | 16 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | CLPP CL E G H | 8192 | 2084 | OMIM:614129 | Perrault syndrome 3 | . | | | 13 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 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:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 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:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:613546 | Aromatase deficiency | . | | | 60 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | . | | | 46 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LHCGR CL E G H | 3973 | 6585 | OMIM:238320 | Hypergonadotropic hypogonadism | . | | | 67 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040284 - Very rare | | | 11 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 464 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | POLR3B CL E G H | 55703 | 30348 | ORPHA:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | | | | 62 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | . | | | 113 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040283 - Occasional | | | 138 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000815 | HP:0000815 | Hypergonadotropic hypogonadism | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |