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:0000138 | HP:0000138 | Ovarian cyst | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 85 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | | | | 12 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | | | | 49 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 105 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 11 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 48 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CBX2 CL E G H | 84733 | 1552 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 3 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | | | | 8 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYP19A1 CL E G H | 1588 | 2594 | OMIM:613546 | Aromatase deficiency | | | | 60 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | | | | 60 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 21 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | DMRT1 CL E G H | 1761 | 2934 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | HP:0040283 - Occasional | | | 70 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040281 - Very frequent | | | 101 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:142330 | Hepatic adenomas, familial | | | | 161 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | | | | 645 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | | | | 645 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | | | | 11 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 13 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | | | | 12 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 48 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 48 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | | | | 38 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 38 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 38 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 13 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | | | | 13 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 54 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 48 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | | | | 162 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | | | | 19 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 42 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | | | | 42 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040283 - Occasional | | | 134 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 24 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | | | | 109 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 109 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 109 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | | | | 23 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | | | | 23 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 23 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000138 | HP:0000138 | Ovarian cyst | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:242 | 46,XY complete gonadal dysgenesis | | | | 177 | | |
HP:0000138 | HP:0030425 | Calcified ovarian cyst | 1 | CL E G H | | | | | | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040284 - Very rare | | | 85 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 12 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040284 - Very rare | | | 105 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040284 - Very rare | | | 11 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040284 - Very rare | | | 48 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CBX2 CL E G H | 84733 | 1552 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 8 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 112 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | | | | 60 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 21 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | DMRT1 CL E G H | 1761 | 2934 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040284 - Very rare | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0000138 | HP:0012886 | Hemorrhagic ovarian cyst | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | | | | 50 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | HNF1A CL E G H | 6927 | 11621 | OMIM:142330 | Hepatic adenomas, familial | . | | | 161 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | HP:0040282 - Frequent | | | 645 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | . | | | 11 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0000138 | HP:0025274 | Ovarian dermoid cyst | 1 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 5 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 48 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 38 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000138 | HP:0025274 | Ovarian dermoid cyst | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000138 | HP:0012887 | Ovarian serous cystadenoma | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0000138 | HP:0012887 | Ovarian serous cystadenoma | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040282 - Frequent | | | 76 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040284 - Very rare | | | 42 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | HP:0040283 - Occasional | | | 42 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0000138 | HP:0025274 | Ovarian dermoid cyst | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000138 | HP:0012887 | Ovarian serous cystadenoma | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000138 | HP:0012886 | Hemorrhagic ovarian cyst | 1 | PRLR CL E G H | 5618 | 9446 | ORPHA:397685 | Familial hyperprolactinemia | HP:0040282 - Frequent | | | 2 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 24 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 109 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000138 | HP:0012887 | Ovarian serous cystadenoma | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:2138 | 46,XX ovotesticular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:393 | 46,XX testicular disorder of sex development | HP:0040281 - Very frequent | | | 23 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000138 | HP:0000147 | Polycystic ovaries | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:242 | 46,XY complete gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0000138 | HP:0008675 | Enlarged polycystic ovaries | 2 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |