Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0025132	HP:0025132	Abnormal circulating estrogen level	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:0025132	HP:0025132	Abnormal circulating estrogen level	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:0025132	HP:0025132	Abnormal circulating estrogen level	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0025132	HP:0025132	Abnormal circulating estrogen level	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0025132	HP:0025138	Abnormal serum estrone	1	CL E G H
HP:0025132	HP:0025135	Abnormal serum estriol	1	CL E G H
HP:0025132	HP:0025133	Abnormal serum estradiol	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0025132	HP:0025133	Abnormal serum estradiol	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0025132	HP:0025133	Abnormal serum estradiol	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0025132	HP:0025133	Abnormal serum estradiol	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0025132	HP:0025133	Abnormal serum estradiol	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0025132	HP:0025133	Abnormal serum estradiol	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0025132	HP:0025133	Abnormal serum estradiol	1	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0025132	HP:0025133	Abnormal serum estradiol	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0025132	HP:0025133	Abnormal serum estradiol	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0025132	HP:0025133	Abnormal serum estradiol	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0025132	HP:0025133	Abnormal serum estradiol	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		2
HP:0025132	HP:0025133	Abnormal serum estradiol	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency		53
HP:0025132	HP:0025133	Abnormal serum estradiol	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0025132	HP:0025133	Abnormal serum estradiol	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0025132	HP:0025133	Abnormal serum estradiol	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0025132	HP:0025133	Abnormal serum estradiol	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0025132	HP:0025133	Abnormal serum estradiol	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus		92
HP:0025132	HP:0025133	Abnormal serum estradiol	1	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency		23
HP:0025132	HP:0025133	Abnormal serum estradiol	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0025132	HP:0025133	Abnormal serum estradiol	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0025132	HP:0025133	Abnormal serum estradiol	1	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia		15
HP:0025132	HP:0025133	Abnormal serum estradiol	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0025132	HP:0025133	Abnormal serum estradiol	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0025132	HP:0025133	Abnormal serum estradiol	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0025132	HP:0025133	Abnormal serum estradiol	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0025132	HP:0025133	Abnormal serum estradiol	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0025132	HP:0025133	Abnormal serum estradiol	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0025132	HP:0025133	Abnormal serum estradiol	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0025132	HP:0025133	Abnormal serum estradiol	1	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0025132	HP:0025133	Abnormal serum estradiol	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0025132	HP:0025133	Abnormal serum estradiol	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0025132	HP:0025133	Abnormal serum estradiol	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0025132	HP:0025133	Abnormal serum estradiol	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0025132	HP:0025133	Abnormal serum estradiol	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0025132	HP:0025133	Abnormal serum estradiol	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0025132	HP:0025133	Abnormal serum estradiol	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0025132	HP:0025133	Abnormal serum estradiol	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0025132	HP:0025133	Abnormal serum estradiol	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0025132	HP:0025133	Abnormal serum estradiol	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0025132	HP:0025133	Abnormal serum estradiol	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0025132	HP:0025133	Abnormal serum estradiol	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0025132	HP:0025133	Abnormal serum estradiol	1	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0025132	HP:0025133	Abnormal serum estradiol	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0025132	HP:0025133	Abnormal serum estradiol	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0025132	HP:0025133	Abnormal serum estradiol	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0025132	HP:0025133	Abnormal serum estradiol	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0025132	HP:0025133	Abnormal serum estradiol	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0025132	HP:0025133	Abnormal serum estradiol	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0025132	HP:0025133	Abnormal serum estradiol	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0025132	HP:0025133	Abnormal serum estradiol	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0025132	HP:0025133	Abnormal serum estradiol	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0025132	HP:0025133	Abnormal serum estradiol	1	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0025132	HP:0025133	Abnormal serum estradiol	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0025132	HP:0025133	Abnormal serum estradiol	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0025132	HP:0025133	Abnormal serum estradiol	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0025132	HP:0025133	Abnormal serum estradiol	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0025132	HP:0025139	Increased serum estrone	2	CL E G H
HP:0025132	HP:0025137	Decreased serum estriol	2	CL E G H
HP:0025132	HP:0025136	Increased serum estriol	2	CL E G H
HP:0025132	HP:0025140	Decreased serum estrone	2	CL E G H
HP:0025132	HP:0008214	Decreased serum estradiol	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0025132	HP:0025134	Increased serum estradiol	2	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0025132	HP:0025134	Increased serum estradiol	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0025132	HP:0008214	Decreased serum estradiol	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0025132	HP:0008214	Decreased serum estradiol	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	16
HP:0025132	HP:0008214	Decreased serum estradiol	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0025132	HP:0008214	Decreased serum estradiol	2	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0025132	HP:0025134	Increased serum estradiol	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0025132	HP:0008214	Decreased serum estradiol	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0025132	HP:0025134	Increased serum estradiol	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0025132	HP:0008214	Decreased serum estradiol	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:0025132	HP:0008214	Decreased serum estradiol	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:0025132	HP:0008214	Decreased serum estradiol	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0025132	HP:0008214	Decreased serum estradiol	2	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0025132	HP:0008214	Decreased serum estradiol	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0025132	HP:0008214	Decreased serum estradiol	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0025132	HP:0008214	Decreased serum estradiol	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0025132	HP:0008214	Decreased serum estradiol	2	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0025132	HP:0008214	Decreased serum estradiol	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	50
HP:0025132	HP:0008214	Decreased serum estradiol	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0025132	HP:0008214	Decreased serum estradiol	2	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0025132	HP:0008214	Decreased serum estradiol	2	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0025132	HP:0008214	Decreased serum estradiol	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0025132	HP:0008214	Decreased serum estradiol	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0025132	HP:0008214	Decreased serum estradiol	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0025132	HP:0008214	Decreased serum estradiol	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0025132	HP:0008214	Decreased serum estradiol	2	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0025132	HP:0008214	Decreased serum estradiol	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	25
HP:0025132	HP:0008214	Decreased serum estradiol	2	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0025132	HP:0008214	Decreased serum estradiol	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0025132	HP:0008214	Decreased serum estradiol	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0025132	HP:0008214	Decreased serum estradiol	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0025132	HP:0008214	Decreased serum estradiol	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0025132	HP:0008214	Decreased serum estradiol	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	5
HP:0025132	HP:0008214	Decreased serum estradiol	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0025132	HP:0008214	Decreased serum estradiol	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0025132	HP:0025134	Increased serum estradiol	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0025132	HP:0008214	Decreased serum estradiol	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0025132	HP:0008214	Decreased serum estradiol	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0025132	HP:0025134	Increased serum estradiol	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0025132	HP:0008214	Decreased serum estradiol	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0025132	HP:0008214	Decreased serum estradiol	2	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0025132	HP:0008214	Decreased serum estradiol	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0025132	HP:0008214	Decreased serum estradiol	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0025132	HP:0008214	Decreased serum estradiol	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0025132	HP:0008214	Decreased serum estradiol	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0025132	HP:0008214	Decreased serum estradiol	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0025132	HP:0008214	Decreased serum estradiol	2	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0025132	HP:0008214	Decreased serum estradiol	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0025132	HP:0008214	Decreased serum estradiol	2	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0025132	HP:0008214	Decreased serum estradiol	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0025132	HP:0025134	Increased serum estradiol	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0025132	HP:0008214	Decreased serum estradiol	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0025132	HP:0025134	Increased serum estradiol	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0025132	HP:0008214	Decreased serum estradiol	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0025132	HP:0008214	Decreased serum estradiol	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0025132	HP:0008214	Decreased serum estradiol	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0025132	HP:0008214	Decreased serum estradiol	2	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0025132	HP:0008214	Decreased serum estradiol	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0025132	HP:0008214	Decreased serum estradiol	2	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0025132	HP:0008214	Decreased serum estradiol	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0025132	HP:0025134	Increased serum estradiol	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0025132	HP:0008214	Decreased serum estradiol	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0025132	HP:0008214	Decreased serum estradiol	2	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10