Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 97 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 16 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | | | | 16 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619203 | PREMATURE OVARIAN FAILURE 18; POF18 | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 515 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | DHH CL E G H | 50846 | 2865 | OMIM:233420 | 46,xy sex reversal 7 | | | | 21 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 4 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ERAL1 CL E G H | 26284 | 3424 | OMIM:617565 | PERRAULT SYNDROME 6; PRLTS6 | | | | 1 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 17 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 172 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | FIGLA CL E G H | 344018 | 24669 | OMIM:612310 | PREMATURE OVARIAN FAILURE 6; POF6 | | | | 17 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 50 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | . | | | 15 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 15 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 92 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | HARS2 CL E G H | 23438 | 4817 | OMIM:614926 | PERRAULT SYNDROME 2; PRLTS2 | | | | 29 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 8 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 14 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | MCM8 CL E G H | 84515 | 16147 | OMIM:612885 | Premature ovarian failure 10 | | | | 4 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 25 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NOBOX CL E G H | 135935 | 22448 | OMIM:611548 | Premature ovarian failure 5 | | | | 40 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 38 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 5 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 194 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 9 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 5 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 10 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | | | | 177 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 177 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0008724 | HP:0008724 | Hypoplasia of the ovary | 0 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 16 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | | | | 16 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | DHH CL E G H | 50846 | 2865 | OMIM:233420 | 46,xy sex reversal 7 | HP:0040282 - Frequent | | | 21 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | ERAL1 CL E G H | 26284 | 3424 | OMIM:617565 | PERRAULT SYNDROME 6; PRLTS6 | | | | 1 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | FIGLA CL E G H | 344018 | 24669 | OMIM:612310 | PREMATURE OVARIAN FAILURE 6; POF6 | | | | 17 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 50 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | HARS2 CL E G H | 23438 | 4817 | OMIM:614926 | PERRAULT SYNDROME 2; PRLTS2 | | | | 29 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 25 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | NOBOX CL E G H | 135935 | 22448 | OMIM:611548 | Premature ovarian failure 5 | | | | 40 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 38 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 5 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 194 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | 2 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | | | | 177 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040282 - Frequent | | | | | |
HP:0008724 | HP:0010464 | Streak ovary | 1 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |