Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 504 | 414 | 103850 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | BMP15 CL E G H | 9210 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 281 | 26821 | 616031 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CDON CL E G H | 50937 | 95496 | | | | ORPHA | 1 | | 652 | 17104 | 608707 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 778 | 2518 | 606272 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 167 | 2570 | 613218 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 259 | 2701 | 120470 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 235 | 13909 | 614754 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 208 | 3267 | 300161 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 109 | 22788 | 613301 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 447 | 3663 | 300546 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 77 | 3762 | 604808 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FSHR CL E G H | 2492 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 195 | 3969 | 136435 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GATA1 CL E G H | 2623 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 413 | 4170 | 305371 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 777 | 4173 | 600576 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GHR CL E G H | 2690 | 633 | | | | ORPHA | 1 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GMNN CL E G H | 51053 | 616835 | Meier-gorlin syndrome 6 | 616835 | C4225188 | OMIM | 1 | | 80 | 17493 | 602842 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 124 | 4419 | 152760 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 198 | 4421 | 138850 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GPR161 CL E G H | 23432 | 95496 | | | | ORPHA | 1 | | 64 | 23694 | 612250 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 936 | 4868 | 605837 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HESX1 CL E G H | 8820 | 95496 | | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 286 | 5218 | 613890 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | IGFALS CL E G H | 3483 | 140941 | | | | ORPHA | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | IGFALS CL E G H | 3483 | 615961 | Acid-labile subunit deficiency | 615961 | CN069120 | OMIM | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 163 | 17616 | 606807 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | INSR CL E G H | 3643 | 2297 | Fetal brain disruption sequence | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 302 | 6109 | 601491 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 57 | 6341 | 603286 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | LEPR CL E G H | 3953 | 614963 | Leptin receptor deficiency | 614963 | C3554225 | OMIM | 1 | | 293 | 6554 | 601007 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | LHX4 CL E G H | 89884 | 95496 | | | | ORPHA | 1 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 256 | 6848 | 600982 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 357 | 7114 | 603856 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 97 | 7155 | 120353 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MRPS22 CL E G H | 56945 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MRPS22 CL E G H | 56945 | 618117 | OVARIAN DYSGENESIS 7 | 618117 | CN253833 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 100 | 10545 | 607545 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 328 | 7675 | 602117 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 387 | 1190 | 610922 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NR0B1 CL E G H | 190 | 300200 | Congenital adrenal hypoplasia, X-linked | 300200 | C0342482 | OMIM | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NR5A1 CL E G H | 2516 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NUP107 CL E G H | 57122 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 242 | 29914 | 607617 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 322 | 18145 | 300414 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 233 | 13711 | 300603 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 512 | 9208 | 124015 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROKR2 CL E G H | 128674 | 95496 | | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PSMC3IP CL E G H | 29893 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 39 | 17928 | 608665 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 30089 | 600161 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 314 | 33235 | 611215 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 191 | 14244 | 602207 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 459 | 17063 | 602536 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 671 | 17168 | 609275 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ROBO1 CL E G H | 6091 | 95496 | | | | ORPHA | 1 | | 359 | 10249 | 602430 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL11 CL E G H | 6135 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 154 | 10301 | 604175 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL15 CL E G H | 6138 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 125 | 10306 | 604174 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL18 CL E G H | 6141 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 67 | 10310 | 604179 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL26 CL E G H | 6154 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 87 | 10327 | 603704 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL27 CL E G H | 6155 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 41 | 10328 | 607526 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL35 CL E G H | 11224 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 61 | 10344 | 0 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL35A CL E G H | 6165 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 150 | 10345 | 180468 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPL5 CL E G H | 6125 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 250 | 10360 | 603634 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS10 CL E G H | 6204 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 138 | 10383 | 603632 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS17 CL E G H | 6218 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 47 | 10397 | 180472 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS19 CL E G H | 6223 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 214 | 10402 | 603474 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS24 CL E G H | 6229 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 167 | 10411 | 602412 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS26 CL E G H | 6231 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 131 | 10414 | 603701 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS27 CL E G H | 6232 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 34 | 10416 | 603702 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS28 CL E G H | 6234 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 26 | 10418 | 603685 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS29 CL E G H | 6235 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 50 | 10419 | 603633 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RPS7 CL E G H | 6201 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 187 | 10440 | 603658 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 214 | 10723 | 603961 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SLC12A3 CL E G H | 6559 | 263800 | Familial hypokalemia-hypomagnesemia | 263800 | C0268450 | OMIM | 1 | | 1283 | 10912 | 600968 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33020 | 609837 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33067 | 605436 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 396 | 11164 | 182279 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 363 | 11204 | 608160 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SPIDR CL E G H | 23514 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 116 | 28971 | 615384 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | STAT1 CL E G H | 6772 | 391487 | | | | ORPHA | 1 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 31 | 11521 | 162330 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TAF13 CL E G H | 6884 | 617432 | Mental retardation, autosomal recessive 60 | 617432 | C4479476 | OMIM | 1 | | 42 | 11546 | 600774 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 195 | 16133 | 611663 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TBX3 CL E G H | 6926 | 3138 | | | | ORPHA | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TBX3 CL E G H | 6926 | 181450 | Ulnar-mammary syndrome | 181450 | C1866994 | OMIM | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TGFB1 CL E G H | 7040 | 131300 | Diaphyseal dysplasia | 131300 | C0011989 | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TSR2 CL E G H | 90121 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 217 | 25455 | 300945 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 125 | 11486 | 300053 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WDR11 CL E G H | 55717 | 95496 | | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1371 | 12796 | 607102 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 309 | 16700 | 603693 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 504 | 414 | 103850 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 504 | 414 | 103850 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 504 | 414 | 103850 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ANOS1 CL E G H | 3730 | 432 | Arbovirosis | | | ORPHA | 1 | | 470 | 6211 | 300836 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | BMP15 CL E G H | 9210 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | BMP15 CL E G H | 9210 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | BMP15 CL E G H | 9210 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | BMP15 CL E G H | 9210 | 300510 | Ovarian dysgenesis 2 | 300510 | C1845294 | OMIM | 1 | | 213 | 1068 | 300247 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 281 | 26821 | 616031 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 281 | 26821 | 616031 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 281 | 26821 | 616031 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CDON CL E G H | 50937 | 95496 | | | | ORPHA | 1 | | 652 | 17104 | 608707 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CDON CL E G H | 50937 | 95496 | | | | ORPHA | 1 | | 652 | 17104 | 608707 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CDON CL E G H | 50937 | 95496 | | | | ORPHA | 1 | | 652 | 17104 | 608707 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CHD7 CL E G H | 55636 | 432 | Arbovirosis | | | ORPHA | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 2930 | 20626 | 608892 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 778 | 2518 | 606272 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 778 | 2518 | 606272 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 778 | 2518 | 606272 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 415 | 2555 | 300304 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 167 | 2570 | 613218 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 167 | 2570 | 613218 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 167 | 2570 | 613218 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CYP11A1 CL E G H | 1583 | 168558 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CYP11A1 CL E G H | 1583 | 289548 | | | | ORPHA | 1 | | 151 | 2590 | 118485 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 392 | 2593 | 609300 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 259 | 2701 | 120470 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 259 | 2701 | 120470 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 259 | 2701 | 120470 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 235 | 13909 | 614754 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 235 | 13909 | 614754 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | DMRT3 CL E G H | 58524 | 251510 | | | | ORPHA | 1 | | 235 | 13909 | 614754 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | DUSP6 CL E G H | 1848 | 432 | Arbovirosis | | | ORPHA | 1 | | 66 | 3072 | 602748 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 208 | 3267 | 300161 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 208 | 3267 | 300161 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 208 | 3267 | 300161 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 199 | 3363 | 601752 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 109 | 22788 | 613301 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 109 | 22788 | 613301 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 109 | 22788 | 613301 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 447 | 3663 | 300546 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 447 | 3663 | 300546 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 447 | 3663 | 300546 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGF17 CL E G H | 8822 | 432 | Arbovirosis | | | ORPHA | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGF17 CL E G H | 8822 | 615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | 615270 | C3808983 | OMIM | 1 | | 119 | 3673 | 603725 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGF8 CL E G H | 2253 | 432 | Arbovirosis | | | ORPHA | 1 | | 98 | 3686 | 600483 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FGFR1 CL E G H | 2260 | 432 | Arbovirosis | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 77 | 3762 | 604808 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 77 | 3762 | 604808 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 77 | 3762 | 604808 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FSHR CL E G H | 2492 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 195 | 3969 | 136435 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FSHR CL E G H | 2492 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 195 | 3969 | 136435 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FSHR CL E G H | 2492 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 195 | 3969 | 136435 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GATA1 CL E G H | 2623 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 413 | 4170 | 305371 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GATA1 CL E G H | 2623 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 413 | 4170 | 305371 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GATA1 CL E G H | 2623 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 413 | 4170 | 305371 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 777 | 4173 | 600576 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 777 | 4173 | 600576 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GATA4 CL E G H | 2626 | 251510 | | | | ORPHA | 1 | | 777 | 4173 | 600576 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GHR CL E G H | 2690 | 633 | | | | ORPHA | 1 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GHR CL E G H | 2690 | 633 | | | | ORPHA | 1 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GHR CL E G H | 2690 | 633 | | | | ORPHA | 1 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GLA CL E G H | 2717 | 301500 | Fabry disease | 301500 | C0002986 | OMIM | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1099 | 4296 | 300644 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GMNN CL E G H | 51053 | 616835 | Meier-gorlin syndrome 6 | 616835 | C4225188 | OMIM | 1 | | 80 | 17493 | 602842 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GMNN CL E G H | 51053 | 616835 | Meier-gorlin syndrome 6 | 616835 | C4225188 | OMIM | 1 | | 80 | 17493 | 602842 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GMNN CL E G H | 51053 | 616835 | Meier-gorlin syndrome 6 | 616835 | C4225188 | OMIM | 1 | | 80 | 17493 | 602842 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 124 | 4419 | 152760 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 124 | 4419 | 152760 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GNRH1 CL E G H | 2796 | 432 | Arbovirosis | | | ORPHA | 1 | | 124 | 4419 | 152760 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 198 | 4421 | 138850 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 198 | 4421 | 138850 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GNRHR CL E G H | 2798 | 432 | Arbovirosis | | | ORPHA | 1 | | 198 | 4421 | 138850 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GPR161 CL E G H | 23432 | 95496 | | | | ORPHA | 1 | | 64 | 23694 | 612250 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GPR161 CL E G H | 23432 | 95496 | | | | ORPHA | 1 | | 64 | 23694 | 612250 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GPR161 CL E G H | 23432 | 95496 | | | | ORPHA | 1 | | 64 | 23694 | 612250 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 1 | | 1600 | 4827 | 141900 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 936 | 4868 | 605837 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 936 | 4868 | 605837 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 936 | 4868 | 605837 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HESX1 CL E G H | 8820 | 95496 | | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HESX1 CL E G H | 8820 | 95496 | | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HESX1 CL E G H | 8820 | 95496 | | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HS6ST1 CL E G H | 9394 | 432 | Arbovirosis | | | ORPHA | 1 | | 112 | 5201 | 604846 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 286 | 5218 | 613890 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 286 | 5218 | 613890 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HSD3B2 CL E G H | 3284 | 90791 | | | | ORPHA | 1 | | 286 | 5218 | 613890 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | IGFALS CL E G H | 3483 | 140941 | | | | ORPHA | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | IGFALS CL E G H | 3483 | 140941 | | | | ORPHA | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | IGFALS CL E G H | 3483 | 140941 | | | | ORPHA | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | IGFALS CL E G H | 3483 | 615961 | Acid-labile subunit deficiency | 615961 | CN069120 | OMIM | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | IGFALS CL E G H | 3483 | 615961 | Acid-labile subunit deficiency | 615961 | CN069120 | OMIM | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | IGFALS CL E G H | 3483 | 615961 | Acid-labile subunit deficiency | 615961 | CN069120 | OMIM | 1 | | 216 | 5468 | 601489 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 163 | 17616 | 606807 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 163 | 17616 | 606807 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 163 | 17616 | 606807 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | INSR CL E G H | 3643 | 2297 | Fetal brain disruption sequence | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | INSR CL E G H | 3643 | 2297 | Fetal brain disruption sequence | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | INSR CL E G H | 3643 | 2297 | Fetal brain disruption sequence | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 302 | 6109 | 601491 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 302 | 6109 | 601491 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 302 | 6109 | 601491 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 57 | 6341 | 603286 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 57 | 6341 | 603286 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | KISS1 CL E G H | 3814 | 432 | Arbovirosis | | | ORPHA | 1 | | 57 | 6341 | 603286 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | KISS1R CL E G H | 84634 | 432 | Arbovirosis | | | ORPHA | 1 | | 154 | 4510 | 604161 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 283 | 25726 | 300964 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | LEPR CL E G H | 3953 | 614963 | Leptin receptor deficiency | 614963 | C3554225 | OMIM | 1 | | 293 | 6554 | 601007 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | LEPR CL E G H | 3953 | 614963 | Leptin receptor deficiency | 614963 | C3554225 | OMIM | 1 | | 293 | 6554 | 601007 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | LEPR CL E G H | 3953 | 614963 | Leptin receptor deficiency | 614963 | C3554225 | OMIM | 1 | | 293 | 6554 | 601007 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | LHX4 CL E G H | 89884 | 95496 | | | | ORPHA | 1 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | LHX4 CL E G H | 89884 | 95496 | | | | ORPHA | 1 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | LHX4 CL E G H | 89884 | 95496 | | | | ORPHA | 1 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | LMNA CL E G H | 4000 | 79474 | | | | ORPHA | 1 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 1013 | 6814 | 605283 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 256 | 6848 | 600982 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 256 | 6848 | 600982 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MAP3K1 CL E G H | 4214 | 251510 | | | | ORPHA | 1 | | 256 | 6848 | 600982 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 357 | 7114 | 603856 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 357 | 7114 | 603856 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 357 | 7114 | 603856 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 97 | 7155 | 120353 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 97 | 7155 | 120353 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 97 | 7155 | 120353 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MRPS22 CL E G H | 56945 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MRPS22 CL E G H | 56945 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MRPS22 CL E G H | 56945 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MRPS22 CL E G H | 56945 | 618117 | OVARIAN DYSGENESIS 7 | 618117 | CN253833 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MRPS22 CL E G H | 56945 | 618117 | OVARIAN DYSGENESIS 7 | 618117 | CN253833 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MRPS22 CL E G H | 56945 | 618117 | OVARIAN DYSGENESIS 7 | 618117 | CN253833 | OMIM | 1 | | 188 | 14508 | 605810 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 100 | 10545 | 607545 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 100 | 10545 | 607545 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 100 | 10545 | 607545 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 328 | 7675 | 602117 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 328 | 7675 | 602117 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 328 | 7675 | 602117 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 387 | 1190 | 610922 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 387 | 1190 | 610922 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 387 | 1190 | 610922 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NR0B1 CL E G H | 190 | 251510 | | | | ORPHA | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NR0B1 CL E G H | 190 | 300200 | Congenital adrenal hypoplasia, X-linked | 300200 | C0342482 | OMIM | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NR0B1 CL E G H | 190 | 300200 | Congenital adrenal hypoplasia, X-linked | 300200 | C0342482 | OMIM | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NR0B1 CL E G H | 190 | 300200 | Congenital adrenal hypoplasia, X-linked | 300200 | C0342482 | OMIM | 1 | | 373 | 7960 | 300473 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NR5A1 CL E G H | 2516 | 251510 | | | | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NR5A1 CL E G H | 2516 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NR5A1 CL E G H | 2516 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NR5A1 CL E G H | 2516 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 251 | 7983 | 184757 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NSMF CL E G H | 26012 | 432 | Arbovirosis | | | ORPHA | 1 | | 197 | 29843 | 608137 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NUP107 CL E G H | 57122 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 242 | 29914 | 607617 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NUP107 CL E G H | 57122 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 242 | 29914 | 607617 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NUP107 CL E G H | 57122 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 242 | 29914 | 607617 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PGM1 CL E G H | 5236 | 614921 | Congenital disorder of glycosylation type 1t | 614921 | C2752015 | OMIM | 1 | | 413 | 8905 | 171900 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 322 | 18145 | 300414 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 322 | 18145 | 300414 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 322 | 18145 | 300414 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PNPLA6 CL E G H | 10908 | 275400 | Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina | 275400 | C1848745 | OMIM | 1 | | 1216 | 16268 | 603197 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 233 | 13711 | 300603 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 233 | 13711 | 300603 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POF1B CL E G H | 79983 | 300604 | Premature ovarian failure 2b | 300604 | C1845105 | OMIM | 1 | | 233 | 13711 | 300603 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 1025 | 30074 | 614258 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 510 | 30348 | 614366 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 512 | 9208 | 124015 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 512 | 9208 | 124015 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POR CL E G H | 5447 | 95699 | | | | ORPHA | 1 | | 512 | 9208 | 124015 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 134 | 14951 | 613257 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROK2 CL E G H | 60675 | 432 | Arbovirosis | | | ORPHA | 1 | | 65 | 18455 | 607002 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROKR2 CL E G H | 128674 | 95496 | | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROKR2 CL E G H | 128674 | 95496 | | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROKR2 CL E G H | 128674 | 95496 | | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROKR2 CL E G H | 128674 | 432 | Arbovirosis | | | ORPHA | 1 | | 160 | 15836 | 607123 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PSMC3IP CL E G H | 29893 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 39 | 17928 | 608665 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PSMC3IP CL E G H | 29893 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 39 | 17928 | 608665 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PSMC3IP CL E G H | 29893 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 39 | 17928 | 608665 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 1 | | 854 | 9644 | 176876 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 30089 | 600161 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 30089 | 600161 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 30089 | 600161 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 314 | 33235 | 611215 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 314 | 33235 | 611215 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 314 | 33235 | 611215 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 191 | 14244 | 602207 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 191 | 14244 | 602207 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 191 | 14244 | 602207 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 459 | 17063 | 602536 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 459 | 17063 | 602536 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 459 | 17063 | 602536 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 671 | 17168 | 609275 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 671 | 17168 | 609275 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 671 | 17168 | 609275 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RBM28 CL E G H | 55131 | 612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | 612079 | C2677535 | OMIM | 1 | | 81 | 21863 | 612074 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ROBO1 CL E G H | 6091 | 95496 | | | | ORPHA | 1 | | 359 | 10249 | 602430 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ROBO1 CL E G H | 6091 | 95496 | | | | ORPHA | 1 | | 359 | 10249 | 602430 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ROBO1 CL E G H | 6091 | 95496 | | | | ORPHA | 1 | | 359 | 10249 | 602430 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL11 CL E G H | 6135 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 154 | 10301 | 604175 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL11 CL E G H | 6135 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 154 | 10301 | 604175 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL11 CL E G H | 6135 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 154 | 10301 | 604175 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL15 CL E G H | 6138 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 125 | 10306 | 604174 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL15 CL E G H | 6138 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 125 | 10306 | 604174 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL15 CL E G H | 6138 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 125 | 10306 | 604174 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL18 CL E G H | 6141 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 67 | 10310 | 604179 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL18 CL E G H | 6141 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 67 | 10310 | 604179 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL18 CL E G H | 6141 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 67 | 10310 | 604179 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL26 CL E G H | 6154 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 87 | 10327 | 603704 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL26 CL E G H | 6154 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 87 | 10327 | 603704 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL26 CL E G H | 6154 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 87 | 10327 | 603704 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL27 CL E G H | 6155 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 41 | 10328 | 607526 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL27 CL E G H | 6155 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 41 | 10328 | 607526 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL27 CL E G H | 6155 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 41 | 10328 | 607526 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL35 CL E G H | 11224 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 61 | 10344 | 0 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL35 CL E G H | 11224 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 61 | 10344 | 0 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL35 CL E G H | 11224 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 61 | 10344 | 0 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL35A CL E G H | 6165 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 150 | 10345 | 180468 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL35A CL E G H | 6165 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 150 | 10345 | 180468 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL35A CL E G H | 6165 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 150 | 10345 | 180468 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPL5 CL E G H | 6125 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 250 | 10360 | 603634 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPL5 CL E G H | 6125 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 250 | 10360 | 603634 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPL5 CL E G H | 6125 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 250 | 10360 | 603634 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS10 CL E G H | 6204 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 138 | 10383 | 603632 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS10 CL E G H | 6204 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 138 | 10383 | 603632 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS10 CL E G H | 6204 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 138 | 10383 | 603632 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS17 CL E G H | 6218 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 47 | 10397 | 180472 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS17 CL E G H | 6218 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 47 | 10397 | 180472 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS17 CL E G H | 6218 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 47 | 10397 | 180472 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS19 CL E G H | 6223 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 214 | 10402 | 603474 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS19 CL E G H | 6223 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 214 | 10402 | 603474 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS19 CL E G H | 6223 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 214 | 10402 | 603474 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS24 CL E G H | 6229 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 167 | 10411 | 602412 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS24 CL E G H | 6229 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 167 | 10411 | 602412 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS24 CL E G H | 6229 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 167 | 10411 | 602412 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS26 CL E G H | 6231 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 131 | 10414 | 603701 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS26 CL E G H | 6231 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 131 | 10414 | 603701 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS26 CL E G H | 6231 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 131 | 10414 | 603701 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS27 CL E G H | 6232 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 34 | 10416 | 603702 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS27 CL E G H | 6232 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 34 | 10416 | 603702 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS27 CL E G H | 6232 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 34 | 10416 | 603702 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS28 CL E G H | 6234 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 26 | 10418 | 603685 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS28 CL E G H | 6234 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 26 | 10418 | 603685 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS28 CL E G H | 6234 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 26 | 10418 | 603685 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS29 CL E G H | 6235 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 50 | 10419 | 603633 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS29 CL E G H | 6235 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 50 | 10419 | 603633 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS29 CL E G H | 6235 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 50 | 10419 | 603633 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RPS7 CL E G H | 6201 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 187 | 10440 | 603658 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RPS7 CL E G H | 6201 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 187 | 10440 | 603658 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RPS7 CL E G H | 6201 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 187 | 10440 | 603658 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 474 | 1665 | 602257 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 214 | 10723 | 603961 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 214 | 10723 | 603961 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 214 | 10723 | 603961 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SEMA3E CL E G H | 9723 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 594 | 10727 | 608166 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SLC12A3 CL E G H | 6559 | 263800 | Familial hypokalemia-hypomagnesemia | 263800 | C0268450 | OMIM | 1 | | 1283 | 10912 | 600968 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SLC12A3 CL E G H | 6559 | 263800 | Familial hypokalemia-hypomagnesemia | 263800 | C0268450 | OMIM | 1 | | 1283 | 10912 | 600968 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SLC12A3 CL E G H | 6559 | 263800 | Familial hypokalemia-hypomagnesemia | 263800 | C0268450 | OMIM | 1 | | 1283 | 10912 | 600968 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33020 | 609837 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33020 | 609837 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33020 | 609837 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33067 | 605436 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33067 | 605436 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33067 | 605436 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 396 | 11164 | 182279 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 396 | 11164 | 182279 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 396 | 11164 | 182279 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 378 | 11190 | 602229 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 363 | 11204 | 608160 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 363 | 11204 | 608160 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SOX9 CL E G H | 6662 | 251510 | | | | ORPHA | 1 | | 363 | 11204 | 608160 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SPIDR CL E G H | 23514 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 116 | 28971 | 615384 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SPIDR CL E G H | 23514 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 116 | 28971 | 615384 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SPIDR CL E G H | 23514 | 243 | 46,XX gonadal dysgenesis | | C0685837 | ORPHA | 1 | | 116 | 28971 | 615384 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SPRY4 CL E G H | 81848 | 432 | Arbovirosis | | | ORPHA | 1 | | 78 | 15533 | 607984 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SRY CL E G H | 6736 | 251510 | | | | ORPHA | 1 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | STAT1 CL E G H | 6772 | 391487 | | | | ORPHA | 1 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | STAT1 CL E G H | 6772 | 391487 | | | | ORPHA | 1 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | STAT1 CL E G H | 6772 | 391487 | | | | ORPHA | 1 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 31 | 11521 | 162330 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 31 | 11521 | 162330 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TAC3 CL E G H | 6866 | 432 | Arbovirosis | | | ORPHA | 1 | | 31 | 11521 | 162330 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TACR3 CL E G H | 6870 | 432 | Arbovirosis | | | ORPHA | 1 | | 132 | 11528 | 162332 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TAF13 CL E G H | 6884 | 617432 | Mental retardation, autosomal recessive 60 | 617432 | C4479476 | OMIM | 1 | | 42 | 11546 | 600774 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TAF13 CL E G H | 6884 | 617432 | Mental retardation, autosomal recessive 60 | 617432 | C4479476 | OMIM | 1 | | 42 | 11546 | 600774 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TAF13 CL E G H | 6884 | 617432 | Mental retardation, autosomal recessive 60 | 617432 | C4479476 | OMIM | 1 | | 42 | 11546 | 600774 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 195 | 16133 | 611663 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 195 | 16133 | 611663 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 195 | 16133 | 611663 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TBX3 CL E G H | 6926 | 3138 | | | | ORPHA | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TBX3 CL E G H | 6926 | 3138 | | | | ORPHA | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TBX3 CL E G H | 6926 | 3138 | | | | ORPHA | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TBX3 CL E G H | 6926 | 181450 | Ulnar-mammary syndrome | 181450 | C1866994 | OMIM | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TBX3 CL E G H | 6926 | 181450 | Ulnar-mammary syndrome | 181450 | C1866994 | OMIM | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TBX3 CL E G H | 6926 | 181450 | Ulnar-mammary syndrome | 181450 | C1866994 | OMIM | 1 | | 353 | 11602 | 601621 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TGFB1 CL E G H | 7040 | 131300 | Diaphyseal dysplasia | 131300 | C0011989 | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TGFB1 CL E G H | 7040 | 131300 | Diaphyseal dysplasia | 131300 | C0011989 | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TGFB1 CL E G H | 7040 | 131300 | Diaphyseal dysplasia | 131300 | C0011989 | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TSR2 CL E G H | 90121 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 217 | 25455 | 300945 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TSR2 CL E G H | 90121 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 217 | 25455 | 300945 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TSR2 CL E G H | 90121 | 124 | Allain-Babin-Demarquez syndrome | | | ORPHA | 1 | | 217 | 25455 | 300945 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 125 | 11486 | 300053 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 125 | 11486 | 300053 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | VAMP7 CL E G H | 6845 | 251510 | | | | ORPHA | 1 | | 125 | 11486 | 300053 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WDR11 CL E G H | 55717 | 95496 | | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WDR11 CL E G H | 55717 | 95496 | | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WDR11 CL E G H | 55717 | 95496 | | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WDR11 CL E G H | 55717 | 432 | Arbovirosis | | | ORPHA | 1 | | 369 | 13831 | 606417 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1371 | 12796 | 607102 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1371 | 12796 | 607102 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WT1 CL E G H | 7490 | 251510 | | | | ORPHA | 1 | | 1371 | 12796 | 607102 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WWOX CL E G H | 51741 | 251510 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 274 | 24249 | 610957 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 309 | 16700 | 603693 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 309 | 16700 | 603693 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ZFPM2 CL E G H | 23414 | 251510 | | | | ORPHA | 1 | | 309 | 16700 | 603693 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 0 | | 281 | 450 | 605420 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 0 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | DACT1 CL E G H | 51339 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 116 | 17748 | 607861 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 0 | | 695 | 14677 | 602635 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | EXT2 CL E G H | 2132 | 52022 | | | | ORPHA | 0 | | 668 | 3513 | 608210 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FAM111B CL E G H | 374393 | 615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | 615704 | C3810325 | OMIM | 0 | | 64 | 24200 | 615584 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 0 | | 219 | 3750 | 600362 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GHR CL E G H | 2690 | 314802 | | | | ORPHA | 0 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GHSR CL E G H | 2693 | 314811 | | | | ORPHA | 0 | | 194 | 4267 | 601898 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | GLI2 CL E G H | 2736 | 95494 | | | | ORPHA | 0 | | 832 | 4318 | 165230 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 381 | 13315 | 300269 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | HESX1 CL E G H | 8820 | 95494 | | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 0 | | 1144 | 29059 | 300522 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 2073 | 7132 | 159555 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | LHX4 CL E G H | 89884 | 95494 | | | | ORPHA | 0 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 235 | 6859 | 602614 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 0 | | 2173 | 7010 | 613733 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 1542 | 28862 | 608667 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 0 | | 917 | 16400 | 606416 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 0 | | 243 | 7871 | 300084 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 0 | | 643 | 8108 | 300535 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | OTX2 CL E G H | 5015 | 95494 | | | | ORPHA | 0 | | 231 | 8522 | 600037 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 267 | 8743 | 162150 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PHF21A CL E G H | 51317 | 52022 | | | | ORPHA | 0 | | 185 | 24156 | 608325 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 149 | 9201 | 176830 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | POU1F1 CL E G H | 5449 | 95494 | | | | ORPHA | 0 | | 104 | 9210 | 173110 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROP1 CL E G H | 5626 | 95494 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | PROP1 CL E G H | 5626 | 90695 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 352 | 9811 | 606462 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 0 | | 1608 | 9834 | 607642 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SALL1 CL E G H | 6299 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 441 | 10524 | 602218 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 909 | 25566 | 615743 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 939 | 11111 | 300040 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 472 | 2468 | 606062 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SOX3 CL E G H | 6658 | 90695 | | | | ORPHA | 0 | | 264 | 11199 | 313430 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | SRY CL E G H | 6736 | 1772 | | | | ORPHA | 0 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 0 | | 639 | 11364 | 102582 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | TRIP4 CL E G H | 9325 | 486815 | | | | ORPHA | 0 | | 212 | 12310 | 604501 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ZMPSTE24 CL E G H | 10269 | 90154 | | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0000823 | Delayed puberty | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | AIP CL E G H | 9049 | 2965 | | | | ORPHA | 0 | | 867 | 358 | 605555 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 0 | | 281 | 450 | 605420 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 0 | | 281 | 450 | 605420 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ALX4 CL E G H | 60529 | 52022 | | | | ORPHA | 0 | | 281 | 450 | 605420 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 0 | | 399 | 25567 | 612316 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CDH23 CL E G H | 64072 | 2965 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CDH23 CL E G H | 64072 | 91347 | | | | ORPHA | 0 | | 4522 | 13733 | 605516 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 0 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 0 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 0 | | 3777 | 2214 | 120120 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | DACT1 CL E G H | 51339 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 116 | 17748 | 607861 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | DACT1 CL E G H | 51339 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 116 | 17748 | 607861 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | DACT1 CL E G H | 51339 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 116 | 17748 | 607861 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 0 | | 695 | 14677 | 602635 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 0 | | 695 | 14677 | 602635 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 0 | | 695 | 14677 | 602635 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | EXT2 CL E G H | 2132 | 52022 | | | | ORPHA | 0 | | 668 | 3513 | 608210 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | EXT2 CL E G H | 2132 | 52022 | | | | ORPHA | 0 | | 668 | 3513 | 608210 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | EXT2 CL E G H | 2132 | 52022 | | | | ORPHA | 0 | | 668 | 3513 | 608210 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FAM111B CL E G H | 374393 | 615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | 615704 | C3810325 | OMIM | 0 | | 64 | 24200 | 615584 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FAM111B CL E G H | 374393 | 615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | 615704 | C3810325 | OMIM | 0 | | 64 | 24200 | 615584 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FAM111B CL E G H | 374393 | 615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | 615704 | C3810325 | OMIM | 0 | | 64 | 24200 | 615584 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 0 | | 219 | 3750 | 600362 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 0 | | 219 | 3750 | 600362 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 0 | | 219 | 3750 | 600362 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GHR CL E G H | 2690 | 314802 | | | | ORPHA | 0 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GHR CL E G H | 2690 | 314802 | | | | ORPHA | 0 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GHR CL E G H | 2690 | 314802 | | | | ORPHA | 0 | | 345 | 4263 | 600946 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GHSR CL E G H | 2693 | 314811 | | | | ORPHA | 0 | | 194 | 4267 | 601898 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GHSR CL E G H | 2693 | 314811 | | | | ORPHA | 0 | | 194 | 4267 | 601898 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GHSR CL E G H | 2693 | 314811 | | | | ORPHA | 0 | | 194 | 4267 | 601898 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | GLI2 CL E G H | 2736 | 95494 | | | | ORPHA | 0 | | 832 | 4318 | 165230 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | GLI2 CL E G H | 2736 | 95494 | | | | ORPHA | 0 | | 832 | 4318 | 165230 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | GLI2 CL E G H | 2736 | 95494 | | | | ORPHA | 0 | | 832 | 4318 | 165230 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 381 | 13315 | 300269 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 381 | 13315 | 300269 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 381 | 13315 | 300269 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | HESX1 CL E G H | 8820 | 95494 | | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | HESX1 CL E G H | 8820 | 95494 | | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | HESX1 CL E G H | 8820 | 95494 | | | | ORPHA | 0 | | 112 | 4877 | 601802 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 0 | | 1144 | 29059 | 300522 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 0 | | 1144 | 29059 | 300522 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 0 | | 1144 | 29059 | 300522 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 2073 | 7132 | 159555 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 2073 | 7132 | 159555 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 2073 | 7132 | 159555 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | LHX4 CL E G H | 89884 | 95494 | | | | ORPHA | 0 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | LHX4 CL E G H | 89884 | 95494 | | | | ORPHA | 0 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | LHX4 CL E G H | 89884 | 95494 | | | | ORPHA | 0 | | 172 | 21734 | 602146 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 1814 | 6636 | 150330 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 235 | 6859 | 602614 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 235 | 6859 | 602614 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MAP3K7 CL E G H | 6885 | 617137 | Frontometaphyseal dysplasia 2 | 617137 | C4310697 | OMIM | 0 | | 235 | 6859 | 602614 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 0 | | 2173 | 7010 | 613733 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 0 | | 2173 | 7010 | 613733 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MEN1 CL E G H | 4221 | 2965 | | | | ORPHA | 0 | | 2173 | 7010 | 613733 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 0 | | | 7419 | 516030 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 0 | | | 7421 | 516040 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 0 | | | 7422 | 516050 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 0 | | | 7455 | 516000 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 0 | | | 7459 | 516003 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 0 | | | 7461 | 516005 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 0 | | | 7462 | 516006 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 0 | | | 7481 | 590070 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 0 | | | 7487 | 590040 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 0 | | | 7490 | 590050 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 0 | | | 7495 | 590030 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 0 | | | 7497 | 590080 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 0 | | | 7498 | 590085 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 0 | | | 7501 | 590095 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 0 | | 299 | 7678 | 300658 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 1542 | 28862 | 608667 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 1542 | 28862 | 608667 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 1542 | 28862 | 608667 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 0 | | 917 | 16400 | 606416 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 0 | | 917 | 16400 | 606416 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 0 | | 917 | 16400 | 606416 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 0 | | 243 | 7871 | 300084 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 0 | | 243 | 7871 | 300084 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 0 | | 243 | 7871 | 300084 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 0 | | 643 | 8108 | 300535 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 0 | | 643 | 8108 | 300535 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 0 | | 643 | 8108 | 300535 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | OTX2 CL E G H | 5015 | 95494 | | | | ORPHA | 0 | | 231 | 8522 | 600037 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | OTX2 CL E G H | 5015 | 95494 | | | | ORPHA | 0 | | 231 | 8522 | 600037 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | OTX2 CL E G H | 5015 | 95494 | | | | ORPHA | 0 | | 231 | 8522 | 600037 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 267 | 8743 | 162150 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 267 | 8743 | 162150 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PCSK1 CL E G H | 5122 | 71528 | | | | ORPHA | 0 | | 267 | 8743 | 162150 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PHF21A CL E G H | 51317 | 52022 | | | | ORPHA | 0 | | 185 | 24156 | 608325 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PHF21A CL E G H | 51317 | 52022 | | | | ORPHA | 0 | | 185 | 24156 | 608325 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PHF21A CL E G H | 51317 | 52022 | | | | ORPHA | 0 | | 185 | 24156 | 608325 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 149 | 9201 | 176830 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 149 | 9201 | 176830 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POMC CL E G H | 5443 | 71526 | | | | ORPHA | 0 | | 149 | 9201 | 176830 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | POU1F1 CL E G H | 5449 | 95494 | | | | ORPHA | 0 | | 104 | 9210 | 173110 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | POU1F1 CL E G H | 5449 | 95494 | | | | ORPHA | 0 | | 104 | 9210 | 173110 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | POU1F1 CL E G H | 5449 | 95494 | | | | ORPHA | 0 | | 104 | 9210 | 173110 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROP1 CL E G H | 5626 | 90695 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | PROP1 CL E G H | 5626 | 95494 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROP1 CL E G H | 5626 | 90695 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | PROP1 CL E G H | 5626 | 95494 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROP1 CL E G H | 5626 | 90695 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | PROP1 CL E G H | 5626 | 95494 | | | | ORPHA | 0 | | 261 | 9455 | 601538 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 352 | 9811 | 606462 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 352 | 9811 | 606462 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 352 | 9811 | 606462 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 0 | | 1608 | 9834 | 607642 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 0 | | 1608 | 9834 | 607642 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 0 | | 1608 | 9834 | 607642 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SALL1 CL E G H | 6299 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 441 | 10524 | 602218 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SALL1 CL E G H | 6299 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 441 | 10524 | 602218 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SALL1 CL E G H | 6299 | 857 | Benign familial infantile epilepsy | | | ORPHA | 0 | | 441 | 10524 | 602218 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 909 | 25566 | 615743 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 909 | 25566 | 615743 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 909 | 25566 | 615743 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 939 | 11111 | 300040 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 939 | 11111 | 300040 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 939 | 11111 | 300040 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 472 | 2468 | 606062 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 472 | 2468 | 606062 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 0 | | 472 | 2468 | 606062 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SOX3 CL E G H | 6658 | 90695 | | | | ORPHA | 0 | | 264 | 11199 | 313430 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SOX3 CL E G H | 6658 | 90695 | | | | ORPHA | 0 | | 264 | 11199 | 313430 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SOX3 CL E G H | 6658 | 90695 | | | | ORPHA | 0 | | 264 | 11199 | 313430 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | SRY CL E G H | 6736 | 1772 | | | | ORPHA | 0 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | SRY CL E G H | 6736 | 1772 | | | | ORPHA | 0 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | SRY CL E G H | 6736 | 1772 | | | | ORPHA | 0 | | 115 | 11311 | 480000 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | STAT1 CL E G H | 6772 | 614162 | Immunodeficiency 31C | 614162 | C3279990 | OMIM | 0 | | 557 | 11362 | 600555 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 0 | | 639 | 11364 | 102582 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 0 | | 639 | 11364 | 102582 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | STAT3 CL E G H | 6774 | 615952 | Autoimmune disease, multisystem, infantile-onset, 1 | 615952 | C4014795 | OMIM | 0 | | 639 | 11364 | 102582 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TGFB1 CL E G H | 7040 | 1328 | Chromosome 15 ring | | CN035931 | ORPHA | 0 | | 286 | 11766 | 190180 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | TRIP4 CL E G H | 9325 | 486815 | | | | ORPHA | 0 | | 212 | 12310 | 604501 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | TRIP4 CL E G H | 9325 | 486815 | | | | ORPHA | 0 | | 212 | 12310 | 604501 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | TRIP4 CL E G H | 9325 | 486815 | | | | ORPHA | 0 | | 212 | 12310 | 604501 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ZMPSTE24 CL E G H | 10269 | 90154 | | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ZMPSTE24 CL E G H | 10269 | 90154 | | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ZMPSTE24 CL E G H | 10269 | 90154 | | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0012569 | Delayed menarche | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0025453 | Delayed adrenarche | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 209 | 12877 | 606480 |
HP:0000823 | HP:0025515 | Delayed thelarche | 1 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 0 | | 209 | 12877 | 606480 |