Human Phenotype Ontology

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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
..Ovarian serous cystadenoma (HP:0012887)

Term ID:

12887

Name:

Ovarian serous cystadenoma

Synonym:

Serous ovarian cyst

Definition:

A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.

Comments:

Reference:

HP:0012887

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcified ovarian cyst (HP:0030425)

Hemorrhagic ovarian cyst (HP:0012886)

Ovarian dermoid cyst (HP:0025274)

Polycystic ovaries (HP:0000147)

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:0012887	HP:0012887	Ovarian serous cystadenoma	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012887	HP:0012887	Ovarian serous cystadenoma	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0012887	HP:0012887	Ovarian serous cystadenoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012887	HP:0012887	Ovarian serous cystadenoma	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23

Genes (4) :PDE11A PIK3CA PRKAR1A SRY

Diseases (3) :ORPHA:1359 ORPHA:276280 ORPHA:1772

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