Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal ovarian morphology (HP:0031065)

Parent Node:
Ovarian cyst (HP:0000138)

..Starting node
..Polycystic ovaries (HP:0000147)

Term ID:

147

Name:

Polycystic ovaries

Synonym:

Polycystic ovary; Polycystic ovary disease; Sclerocystic ovaries

Definition:

Comments:

Reference:

HP:0000147

Genes and Diseases:

Child Nodes:

........

Enlarged polycystic ovaries (HP:0008675)

Sister Nodes:

Calcified ovarian cyst (HP:0030425)

Hemorrhagic ovarian cyst (HP:0012886)

Ovarian dermoid cyst (HP:0025274)

Ovarian serous cystadenoma (HP:0012887)

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:0000147	HP:0000147	Polycystic ovaries	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	85
HP:0000147	HP:0000147	Polycystic ovaries	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000147	HP:0000147	Polycystic ovaries	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0000147	HP:0000147	Polycystic ovaries	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000147	HP:0000147	Polycystic ovaries	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040282 - Frequent	12
HP:0000147	HP:0000147	Polycystic ovaries	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000147	HP:0000147	Polycystic ovaries	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0000147	HP:0000147	Polycystic ovaries	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0000147	HP:0000147	Polycystic ovaries	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	105
HP:0000147	HP:0000147	Polycystic ovaries	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000147	HP:0000147	Polycystic ovaries	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	11
HP:0000147	HP:0000147	Polycystic ovaries	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	48
HP:0000147	HP:0000147	Polycystic ovaries	0	CBX2 CL E G H	84733	1552	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	3
HP:0000147	HP:0000147	Polycystic ovaries	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0000147	HP:0000147	Polycystic ovaries	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	5
HP:0000147	HP:0000147	Polycystic ovaries	0	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:0000147	HP:0000147	Polycystic ovaries	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional	112
HP:0000147	HP:0000147	Polycystic ovaries	0	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:0000147	HP:0000147	Polycystic ovaries	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0000147	HP:0000147	Polycystic ovaries	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0000147	HP:0000147	Polycystic ovaries	0	DHH CL E G H	50846	2865	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	21
HP:0000147	HP:0000147	Polycystic ovaries	0	DHX37 CL E G H	57647	17210	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000147	HP:0000147	Polycystic ovaries	0	DMRT1 CL E G H	1761	2934	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0000147	HP:0000147	Polycystic ovaries	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000147	HP:0000147	Polycystic ovaries	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0000147	HP:0000147	Polycystic ovaries	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	11
HP:0000147	HP:0000147	Polycystic ovaries	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare
HP:0000147	HP:0000147	Polycystic ovaries	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0000147	HP:0000147	Polycystic ovaries	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0000147	HP:0000147	Polycystic ovaries	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000147	HP:0000147	Polycystic ovaries	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000147	HP:0000147	Polycystic ovaries	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000147	HP:0000147	Polycystic ovaries	0	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial	.	161
HP:0000147	HP:0000147	Polycystic ovaries	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0000147	HP:0000147	Polycystic ovaries	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0000147	HP:0000147	Polycystic ovaries	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0000147	HP:0000147	Polycystic ovaries	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0000147	HP:0000147	Polycystic ovaries	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0000147	HP:0000147	Polycystic ovaries	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent	645
HP:0000147	HP:0000147	Polycystic ovaries	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000147	HP:0000147	Polycystic ovaries	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000147	HP:0000147	Polycystic ovaries	0	MAP3K1 CL E G H	4214	6848	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0000147	HP:0000147	Polycystic ovaries	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000147	HP:0000147	Polycystic ovaries	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000147	HP:0000147	Polycystic ovaries	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0000147	HP:0000147	Polycystic ovaries	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0000147	HP:0000147	Polycystic ovaries	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040283 - Occasional	12
HP:0000147	HP:0000147	Polycystic ovaries	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000147	HP:0000147	Polycystic ovaries	0	NR0B1 CL E G H	190	7960	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	48
HP:0000147	HP:0000147	Polycystic ovaries	0	NR0B1 CL E G H	190	7960	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0000147	HP:0000147	Polycystic ovaries	0	NR5A1 CL E G H	2516	7983	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	38
HP:0000147	HP:0000147	Polycystic ovaries	0	NR5A1 CL E G H	2516	7983	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	38
HP:0000147	HP:0000147	Polycystic ovaries	0	NR5A1 CL E G H	2516	7983	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0000147	HP:0000147	Polycystic ovaries	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0000147	HP:0000147	Polycystic ovaries	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0000147	HP:0000147	Polycystic ovaries	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0000147	HP:0000147	Polycystic ovaries	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0000147	HP:0000147	Polycystic ovaries	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040282 - Frequent	19
HP:0000147	HP:0000147	Polycystic ovaries	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000147	HP:0000147	Polycystic ovaries	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0000147	HP:0000147	Polycystic ovaries	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	42
HP:0000147	HP:0000147	Polycystic ovaries	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	HP:0040283 - Occasional	42
HP:0000147	HP:0000147	Polycystic ovaries	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0000147	HP:0000147	Polycystic ovaries	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0000147	HP:0000147	Polycystic ovaries	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0000147	HP:0000147	Polycystic ovaries	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040283 - Occasional	948
HP:0000147	HP:0000147	Polycystic ovaries	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0000147	HP:0000147	Polycystic ovaries	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0000147	HP:0000147	Polycystic ovaries	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0000147	HP:0000147	Polycystic ovaries	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0000147	HP:0000147	Polycystic ovaries	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000147	HP:0000147	Polycystic ovaries	0	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:0000147	HP:0000147	Polycystic ovaries	0	SOX3 CL E G H	6658	11199	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	24
HP:0000147	HP:0000147	Polycystic ovaries	0	SOX9 CL E G H	6662	11204	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	109
HP:0000147	HP:0000147	Polycystic ovaries	0	SOX9 CL E G H	6662	11204	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	109
HP:0000147	HP:0000147	Polycystic ovaries	0	SOX9 CL E G H	6662	11204	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0000147	HP:0000147	Polycystic ovaries	0	SRY CL E G H	6736	11311	ORPHA:2138	46,XX ovotesticular disorder of sex development	HP:0040281 - Very frequent	23
HP:0000147	HP:0000147	Polycystic ovaries	0	SRY CL E G H	6736	11311	ORPHA:393	46,XX testicular disorder of sex development	HP:0040281 - Very frequent	23
HP:0000147	HP:0000147	Polycystic ovaries	0	SRY CL E G H	6736	11311	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0000147	HP:0000147	Polycystic ovaries	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0000147	HP:0000147	Polycystic ovaries	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare	2
HP:0000147	HP:0000147	Polycystic ovaries	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0000147	HP:0000147	Polycystic ovaries	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000147	HP:0000147	Polycystic ovaries	0	WT1 CL E G H	7490	12796	ORPHA:242	46,XY complete gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000147	HP:0008675	Enlarged 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:0000147	HP:0008675	Enlarged 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:0000147	HP:0008675	Enlarged polycystic ovaries	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0000147	HP:0008675	Enlarged polycystic ovaries	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1

Genes (77) :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 FKBP6 FLT1 FOS FOXL2 FSHR GTF2I GTF2IRD1 GTF2IRD2 HNF1A KLLN LIMK1 LIPE LMNA LMNB2 MAP3K1 METTL27 MLXIPL MMP14 MMP2 MSX1 NCF1 NR0B1 NR5A1 PHKA2 PHKB PHKG2 PIK3CA PLIN1 POR PPARG PTEN RFC2 SDHB SDHC SDHD SEC23B SETD2 SLC37A4 SOX3 SOX9 SRY STK11 STOX1 STX1A TBL2 TMEM270 USF3 VPS37D WT1

Diseases (43) :ORPHA:528 OMIM:608594 ORPHA:201 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:91 ORPHA:137675 ORPHA:785 ORPHA:572333 ORPHA:64739 OMIM:142330 ORPHA:435660 ORPHA:280365 ORPHA:2229 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:608709 ORPHA:371428 ORPHA:2228 ORPHA:393 ORPHA:2138 ORPHA:264580 ORPHA:79240 ORPHA:280356 OMIM:201750 ORPHA:95699 OMIM:604367 ORPHA:79083 ORPHA:2969 OMIM:616831 ORPHA:79259 ORPHA:2869

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

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