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:0008197 | HP:0008197 | Absence of pubertal development | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 515 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:273250 | 46, XY sex reversal 11 | | | | 2 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 4 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 17 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 172 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 15 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 92 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 8 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | | | | 9 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 3 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 14 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | NHLH2 CL E G H | 4808 | 7818 | OMIM:619755 | HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27 | | | | | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | | | | 9 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 9 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 5 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 6 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | TACR3 CL E G H | 6870 | 11528 | OMIM:614840 | Hypogonadotropic hypogonadism 11 with or without anosmia | | | | 34 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 34 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040281 - Very frequent | | | 10 | | |
HP:0008197 | HP:0008197 | Absence of pubertal development | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0008197 | HP:0008647 | Pubertal developmental failure in females | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0008197 | HP:0008647 | Pubertal developmental failure in females | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 83 | | |