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:
Ovarian cyst (HP:0000138)

Parent Node:
Enlarged ovaries (HP:0100879)

Parent Node:
Polycystic ovaries (HP:0000147)

..Starting node
..Enlarged polycystic ovaries (HP:0008675)

Term ID:

8675

Name:

Enlarged polycystic ovaries

Synonym:

Enlarged ovaries with cysts

Definition:

Comments:

Reference:

HP:0008675

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008675	HP:0008675	Enlarged polycystic ovaries	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0008675	HP:0008675	Enlarged 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:0008675	HP:0008675	Enlarged 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:0008675	HP:0008675	Enlarged polycystic ovaries	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0008675	HP:0008675	Enlarged polycystic ovaries	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1

Genes (16) :AKT1 CYB5A CYP17A1 CYP19A1 ESR1 FSHR KLLN PIK3CA POR PTEN SDHB SDHC SDHD SEC23B STK11 USF3

Diseases (8) :ORPHA:201 ORPHA:744 ORPHA:90796 ORPHA:91 ORPHA:785 ORPHA:64739 ORPHA:95699 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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