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:
Embryonal neoplasm (HP:0002898)

Grandparent Node:
Germ cell neoplasia (HP:0100728)

Parent Node:
Ovarian neoplasm (HP:0100615)

Parent Node:
Teratoma (HP:0009792)

..Starting node
..Ovarian teratoma (HP:0012226)

Term ID:

12226

Name:

Ovarian teratoma

Synonym:

Definition:

The presence of a teratoma in the ovary.

Comments:

Reference:

HP:0012226

Genes and Diseases:

Child Nodes:

........

Ovarian dermoid cyst (HP:0025274)

Sister Nodes:

Cardiac teratoma (HP:0011674)

Craniofacial teratoma (HP:0030755)

Epignathus (HP:0030767)

Mediastinal teratoma (HP:0030741)

Nasopharyngeal teratoma (HP:0031227)

Sacrococcygeal teratoma (HP:0030736)

Testicular teratoma (HP:0100616)

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:0012226	HP:0012226	Ovarian teratoma	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0012226	HP:0012226	Ovarian teratoma	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012226	HP:0012226	Ovarian teratoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012226	HP:0025274	Ovarian dermoid cyst	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional	5
HP:0012226	HP:0025274	Ovarian dermoid cyst	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012226	HP:0025274	Ovarian dermoid cyst	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134

Genes (3) :MSH3 PDE11A PRKAR1A

Diseases (2) :ORPHA:480536 ORPHA:1359

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