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:
Abnormality of the ovary (HP:0000137)

Grandparent Node:
Gonadal neoplasm (HP:0010785)

Parent Node:
Fibroma (HP:0010614)

Parent Node:
Ovarian neoplasm (HP:0100615)

..Starting node
..Ovarian fibroma (HP:0010618)

Term ID:

10618

Name:

Ovarian fibroma

Synonym:

Definition:

The presence of a fibroma of the ovary.

Comments:

Reference:

HP:0010618

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysgerminoma (HP:0100621)

Ovarian carcinoma (HP:0025318)

Ovarian gonadoblastoma (HP:0000149)

Ovarian papillary adenocarcinoma (HP:0006774)

Ovarian teratoma (HP:0012226)

Ovarian thecoma (HP:0030983)

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:0010618	HP:0010618	Ovarian fibroma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010618	HP:0010618	Ovarian fibroma	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0010618	HP:0010618	Ovarian fibroma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010618	HP:0010618	Ovarian fibroma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124

Genes (3) :PTCH1 PTCH2 SUFU

Diseases (2) :OMIM:109400 ORPHA:77301

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