Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the ovary (HP:0000137)help
Parent Node:
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Abnormal ovarian morphology (HP:0031065)help
..Starting node
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Ovarian cyst (HP:0000138)help
Term ID: 138
Name: Ovarian cyst
Synonym: Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cyst; Ovarian cystic abnormality
Definition: The presence of one or more cysts of the ovary.
Comments:
Reference: HP:0000138
Genes and Diseases:
 
       Child Nodes:
........expandPolycystic ovaries (HP:0000147) help
................... HP:0008675 Enlarged polycystic ovaries
........expandHemorrhagic ovarian cyst (HP:0012886) help
........expandOvarian serous cystadenoma (HP:0012887) help
........expandOvarian dermoid cyst (HP:0025274) help
........expandCalcified ovarian cyst (HP:0030425) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the ovary (HP:0010462) help
..expandEctopic ovary (HP:0031086) help
..expandEnlarged ovaries (HP:0100879) help
..expandOophoritis (HP:0031259) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000138HP:0000138Ovarian cyst0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0000138HP:0000138Ovarian cyst0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0000138HP:0000138Ovarian cyst0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000138HP:0000138Ovarian cyst0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0000138HP:0000138Ovarian cyst0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000138HP:0000138Ovarian cyst0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophy12
HP:0000138HP:0000138Ovarian cyst0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000138HP:0000138Ovarian cyst0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosis49
HP:0000138HP:0000138Ovarian cyst0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0000138HP:0000138Ovarian cyst0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0000138HP:0000138Ovarian cyst0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0000138HP:0000138Ovarian cyst0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0000138HP:0000138Ovarian cyst0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0000138HP:0000138Ovarian cyst0CBX2 CL E G H847331552ORPHA:24246,XY complete gonadal dysgenesis3
HP:0000138HP:0000138Ovarian cyst0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0000138HP:0000138Ovarian cyst0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0000138HP:0000138Ovarian cyst0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0000138HP:0000138Ovarian cyst0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000138HP:0000138Ovarian cyst0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0000138HP:0000138Ovarian cyst0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000138HP:0000138Ovarian cyst0CYP19A1 CL E G H15882594OMIM:613546Aromatase deficiency60
HP:0000138HP:0000138Ovarian cyst0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0000138HP:0000138Ovarian cyst0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0000138HP:0000138Ovarian cyst0DHH CL E G H508462865ORPHA:24246,XY complete gonadal dysgenesis21
HP:0000138HP:0000138Ovarian cyst0DHX37 CL E G H5764717210ORPHA:24246,XY complete gonadal dysgenesis2
HP:0000138HP:0000138Ovarian cyst0DMRT1 CL E G H17612934ORPHA:24246,XY complete gonadal dysgenesis2
HP:0000138HP:0000138Ovarian cyst0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000138HP:0000138Ovarian cyst0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0000138HP:0000138Ovarian cyst0F7 CL E G H21553544ORPHA:327Congenital factor VII deficiencyHP:0040283 - Occasional70
HP:0000138HP:0000138Ovarian cyst0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0000138HP:0000138Ovarian cyst0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0000138HP:0000138Ovarian cyst0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus92
HP:0000138HP:0000138Ovarian cyst0FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndromeHP:0040282 - Frequent50
HP:0000138HP:0000138Ovarian cyst0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040281 - Very frequent101
HP:0000138HP:0000138Ovarian cyst0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000138HP:0000138Ovarian cyst0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000138HP:0000138Ovarian cyst0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000138HP:0000138Ovarian cyst0HNF1A CL E G H692711621OMIM:142330Hepatic adenomas, familial161
HP:0000138HP:0000138Ovarian cyst0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000138HP:0000138Ovarian cyst0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000138HP:0000138Ovarian cyst0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0000138HP:0000138Ovarian cyst0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0000138HP:0000138Ovarian cyst0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0000138HP:0000138Ovarian cyst0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0000138HP:0000138Ovarian cyst0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan type645
HP:0000138HP:0000138Ovarian cyst0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0000138HP:0000138Ovarian cyst0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0000138HP:0000138Ovarian cyst0LMNB2 CL E G H848236638OMIM:608709Lipodystrophy, partial, acquired, susceptibility to11
HP:0000138HP:0000138Ovarian cyst0MAP3K1 CL E G H42146848ORPHA:24246,XY complete gonadal dysgenesis13
HP:0000138HP:0000138Ovarian cyst0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000138HP:0000138Ovarian cyst0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000138HP:0000138Ovarian cyst0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0000138HP:0000138Ovarian cyst0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0000138HP:0000138Ovarian cyst0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0000138HP:0000138Ovarian cyst0MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposis5
HP:0000138HP:0000138Ovarian cyst0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0000138HP:0000138Ovarian cyst0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000138HP:0000138Ovarian cyst0NR0B1 CL E G H1907960ORPHA:39346,XX testicular disorder of sex development48
HP:0000138HP:0000138Ovarian cyst0NR0B1 CL E G H1907960ORPHA:24246,XY complete gonadal dysgenesis48
HP:0000138HP:0000138Ovarian cyst0NR5A1 CL E G H25167983ORPHA:213846,XX ovotesticular disorder of sex development38
HP:0000138HP:0000138Ovarian cyst0NR5A1 CL E G H25167983ORPHA:39346,XX testicular disorder of sex development38
HP:0000138HP:0000138Ovarian cyst0NR5A1 CL E G H25167983ORPHA:24246,XY complete gonadal dysgenesis38
HP:0000138HP:0000138Ovarian cyst0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040283 - Occasional2
HP:0000138HP:0000138Ovarian cyst0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0000138HP:0000138Ovarian cyst0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040283 - Occasional13
HP:0000138HP:0000138Ovarian cyst0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0000138HP:0000138Ovarian cyst0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency54
HP:0000138HP:0000138Ovarian cyst0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0000138HP:0000138Ovarian cyst0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency48
HP:0000138HP:0000138Ovarian cyst0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000138HP:0000138Ovarian cyst0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0000138HP:0000138Ovarian cyst0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0000138HP:0000138Ovarian cyst0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0000138HP:0000138Ovarian cyst0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis76
HP:0000138HP:0000138Ovarian cyst0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000138HP:0000138Ovarian cyst0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0000138HP:0000138Ovarian cyst0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0000138HP:0000138Ovarian cyst0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0000138HP:0000138Ovarian cyst0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040283 - Occasional134
HP:0000138HP:0000138Ovarian cyst0PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemia2
HP:0000138HP:0000138Ovarian cyst0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000138HP:0000138Ovarian cyst0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0000138HP:0000138Ovarian cyst0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000138HP:0000138Ovarian cyst0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0000138HP:0000138Ovarian cyst0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000138HP:0000138Ovarian cyst0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000138HP:0000138Ovarian cyst0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000138HP:0000138Ovarian cyst0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000138HP:0000138Ovarian cyst0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000138HP:0000138Ovarian cyst0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0000138HP:0000138Ovarian cyst0SOX3 CL E G H665811199ORPHA:39346,XX testicular disorder of sex development24
HP:0000138HP:0000138Ovarian cyst0SOX9 CL E G H666211204ORPHA:213846,XX ovotesticular disorder of sex development109
HP:0000138HP:0000138Ovarian cyst0SOX9 CL E G H666211204ORPHA:39346,XX testicular disorder of sex development109
HP:0000138HP:0000138Ovarian cyst0SOX9 CL E G H666211204ORPHA:24246,XY complete gonadal dysgenesis109
HP:0000138HP:0000138Ovarian cyst0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0000138HP:0000138Ovarian cyst0SRY CL E G H673611311ORPHA:213846,XX ovotesticular disorder of sex development23
HP:0000138HP:0000138Ovarian cyst0SRY CL E G H673611311ORPHA:39346,XX testicular disorder of sex development23
HP:0000138HP:0000138Ovarian cyst0SRY CL E G H673611311ORPHA:24246,XY complete gonadal dysgenesis23
HP:0000138HP:0000138Ovarian cyst0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0000138HP:0000138Ovarian cyst0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0000138HP:0000138Ovarian cyst0STOX1 CL E G H21973623508ORPHA:275555Preeclampsia2
HP:0000138HP:0000138Ovarian cyst0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000138HP:0000138Ovarian cyst0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000138HP:0000138Ovarian cyst0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000138HP:0000138Ovarian cyst0WT1 CL E G H749012796ORPHA:24246,XY complete gonadal dysgenesis177
HP:0000138HP:0030425Calcified ovarian cyst1 CL E G H
HP:0000138HP:0000147Polycystic ovaries1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040284 - Very rare85
HP:0000138HP:0000147Polycystic ovaries1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000138HP:0000147Polycystic ovaries1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000138HP:0000147Polycystic ovaries1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000138HP:0000147Polycystic ovaries1AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040282 - Frequent12
HP:0000138HP:0000147Polycystic ovaries1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000138HP:0000147Polycystic ovaries1ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0000138HP:0000147Polycystic ovaries1ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0000138HP:0000147Polycystic ovaries1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040284 - Very rare105
HP:0000138HP:0000147Polycystic ovaries1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000138HP:0000147Polycystic ovaries1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040284 - Very rare11
HP:0000138HP:0000147Polycystic ovaries1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040284 - Very rare48
HP:0000138HP:0000147Polycystic ovaries1CBX2 CL E G H847331552ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent3
HP:0000138HP:0000147Polycystic ovaries1CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0000138HP:0000147Polycystic ovaries1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0000138HP:0000147Polycystic ovaries1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000138HP:0000147Polycystic ovaries1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040283 - Occasional112
HP:0000138HP:0000147Polycystic ovaries1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000138HP:0000147Polycystic ovaries1CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0000138HP:0000147Polycystic ovaries1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0000138HP:0000147Polycystic ovaries1DHH CL E G H508462865ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent21
HP:0000138HP:0000147Polycystic ovaries1DHX37 CL E G H5764717210ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000138HP:0000147Polycystic ovaries1DMRT1 CL E G H17612934ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000138HP:0000147Polycystic ovaries1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000138HP:0000147Polycystic ovaries1ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0000138HP:0000147Polycystic ovaries1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0000138HP:0000147Polycystic ovaries1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040284 - Very rare
HP:0000138HP:0000147Polycystic ovaries1FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0000138HP:0012886Hemorrhagic ovarian cyst1FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndromeHP:0040282 - Frequent50
HP:0000138HP:0000147Polycystic ovaries1FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndrome50
HP:0000138HP:0000147Polycystic ovaries1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000138HP:0000147Polycystic ovaries1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000138HP:0000147Polycystic ovaries1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000138HP:0000147Polycystic ovaries1HNF1A CL E G H692711621OMIM:142330Hepatic adenomas, familial.161
HP:0000138HP:0000147Polycystic ovaries1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000138HP:0000147Polycystic ovaries1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0000138HP:0000147Polycystic ovaries1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0000138HP:0000147Polycystic ovaries1LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0000138HP:0000147Polycystic ovaries1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0000138HP:0000147Polycystic ovaries1LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040282 - Frequent645
HP:0000138HP:0000147Polycystic ovaries1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0000138HP:0000147Polycystic ovaries1LMNB2 CL E G H848236638OMIM:608709Lipodystrophy, partial, acquired, susceptibility to.11
HP:0000138HP:0000147Polycystic ovaries1MAP3K1 CL E G H42146848ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000138HP:0000147Polycystic ovaries1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000138HP:0000147Polycystic ovaries1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000138HP:0000147Polycystic ovaries1MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0000138HP:0000147Polycystic ovaries1MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0000138HP:0025274Ovarian dermoid cyst1MSH3 CL E G H44377326ORPHA:480536MSH3-related attenuated familial adenomatous polyposisHP:0040283 - Occasional5
HP:0000138HP:0000147Polycystic ovaries1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040283 - Occasional12
HP:0000138HP:0000147Polycystic ovaries1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000138HP:0000147Polycystic ovaries1NR0B1 CL E G H1907960ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent48
HP:0000138HP:0000147Polycystic ovaries1NR0B1 CL E G H1907960ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000138HP:0000147Polycystic ovaries1NR5A1 CL E G H25167983ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent38
HP:0000138HP:0000147Polycystic ovaries1NR5A1 CL E G H25167983ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent38
HP:0000138HP:0000147Polycystic ovaries1NR5A1 CL E G H25167983ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000138HP:0025274Ovarian dermoid cyst1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000138HP:0012887Ovarian serous cystadenoma1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000138HP:0000147Polycystic ovaries1PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0000138HP:0000147Polycystic ovaries1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0000138HP:0000147Polycystic ovaries1PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0000138HP:0000147Polycystic ovaries1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000138HP:0012887Ovarian serous cystadenoma1PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0000138HP:0000147Polycystic ovaries1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040282 - Frequent19
HP:0000138HP:0000147Polycystic ovaries1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000138HP:0000147Polycystic ovaries1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040282 - Frequent76
HP:0000138HP:0000147Polycystic ovaries1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040284 - Very rare42
HP:0000138HP:0000147Polycystic ovaries1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3HP:0040283 - Occasional42
HP:0000138HP:0000147Polycystic ovaries1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0000138HP:0025274Ovarian dermoid cyst1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000138HP:0012887Ovarian serous cystadenoma1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000138HP:0012886Hemorrhagic ovarian cyst1PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemiaHP:0040282 - Frequent2
HP:0000138HP:0000147Polycystic ovaries1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000138HP:0000147Polycystic ovaries1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000138HP:0000147Polycystic ovaries1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948
HP:0000138HP:0000147Polycystic ovaries1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000138HP:0000147Polycystic ovaries1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000138HP:0000147Polycystic ovaries1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000138HP:0000147Polycystic ovaries1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000138HP:0000147Polycystic ovaries1SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000138HP:0000147Polycystic ovaries1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040282 - Frequent110
HP:0000138HP:0000147Polycystic ovaries1SOX3 CL E G H665811199ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent24
HP:0000138HP:0000147Polycystic ovaries1SOX9 CL E G H666211204ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent109
HP:0000138HP:0000147Polycystic ovaries1SOX9 CL E G H666211204ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent109
HP:0000138HP:0000147Polycystic ovaries1SOX9 CL E G H666211204ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000138HP:0012887Ovarian serous cystadenoma1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000138HP:0000147Polycystic ovaries1SRY CL E G H673611311ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent23
HP:0000138HP:0000147Polycystic ovaries1SRY CL E G H673611311ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent23
HP:0000138HP:0000147Polycystic ovaries1SRY CL E G H673611311ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000138HP:0000147Polycystic ovaries1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0000138HP:0000147Polycystic ovaries1STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0000138HP:0000147Polycystic ovaries1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000138HP:0000147Polycystic ovaries1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000138HP:0000147Polycystic ovaries1WT1 CL E G H749012796ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000138HP:0008675Enlarged polycystic ovaries2AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0000138HP:0008675Enlarged polycystic ovaries2AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000138HP:0008675Enlarged polycystic ovaries2CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000138HP:0008675Enlarged polycystic ovaries2CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000138HP:0008675Enlarged polycystic ovaries2CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0000138HP:0008675Enlarged polycystic ovaries2ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0000138HP:0008675Enlarged polycystic ovaries2FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndromeHP:0040281 - Very frequent50
HP:0000138HP:0008675Enlarged polycystic ovaries2KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000138HP:0008675Enlarged polycystic ovaries2PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0000138HP:0008675Enlarged polycystic ovaries2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000138HP:0008675Enlarged polycystic ovaries2PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0000138HP:0008675Enlarged polycystic ovaries2PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000138HP:0008675Enlarged polycystic ovaries2SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0000138HP:0008675Enlarged polycystic ovaries2SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0000138HP:0008675Enlarged polycystic ovaries2SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0000138HP:0008675Enlarged polycystic ovaries2SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0000138HP:0008675Enlarged polycystic ovaries2STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0000138HP:0008675Enlarged polycystic ovaries2USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1


Genes (88) :AGPAT2 AKT1 AKT2 ALMS1 ANTXR2 ATM BAZ1B BCL7B BSCL2 BUD23 CAV1 CAVIN1 CBX2 CIDEC CLIP2 CORIN CYB5A CYP11B1 CYP17A1 CYP19A1 CYTB DHH DHX37 DMRT1 DNAJC30 EIF4H ELN ESR1 F7 FKBP6 FLT1 FOS FOXL2 FSHR GNAS GTF2I GTF2IRD1 GTF2IRD2 HNF1A INSR KLLN LHB LIMK1 LIPE LMNA LMNB2 MAP3K1 METTL27 MLXIPL MMP14 MMP2 MSH3 MSX1 NCF1 NR0B1 NR5A1 NTHL1 OFD1 PDE11A PHKA2 PHKB PHKG2 PIK3CA PLIN1 POR PPARG PRKAR1A PRLR PTEN RFC2 SDHB SDHC SDHD SEC23B SETD2 SLC37A4 SOX3 SOX9 SRY STK11 STOX1 STX1A TBL2 TBX1 TMEM270 USF3 VPS37D WT1

Diseases (63) :ORPHA:528 OMIM:608594 ORPHA:201 OMIM:615109 ORPHA:744 ORPHA:79085 ORPHA:64 ORPHA:2176 ORPHA:100 ORPHA:904 OMIM:269700 ORPHA:242 ORPHA:435651 ORPHA:275555 ORPHA:90796 ORPHA:90795 ORPHA:90793 OMIM:613546 ORPHA:91 ORPHA:137675 ORPHA:785 ORPHA:327 ORPHA:572333 ORPHA:64739 ORPHA:562 OMIM:142330 OMIM:246200 OMIM:228300 ORPHA:435660 ORPHA:280365 ORPHA:2229 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:608709 ORPHA:371428 OMIM:617100 ORPHA:480536 ORPHA:2228 ORPHA:393 ORPHA:2138 ORPHA:454840 OMIM:311200 ORPHA:1359 OMIM:610475 ORPHA:264580 ORPHA:79240 OMIM:615108 ORPHA:276280 ORPHA:280356 OMIM:201750 ORPHA:95699 OMIM:604367 ORPHA:79083 ORPHA:397685 OMIM:158350 ORPHA:2969 OMIM:616831 ORPHA:79259 ORPHA:1772 OMIM:175200 ORPHA:2869 OMIM:188400
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.