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:
Abnormality of the ovary (HP:0000137)

Grandparent Node:
Gonadal neoplasm (HP:0010785)

Parent Node:
Ovarian neoplasm (HP:0100615)

..Starting node
..Ovarian carcinoma (HP:0025318)

Term ID:

25318

Name:

Ovarian carcinoma

Synonym:

Ovarian epithelial cancer

Definition:

A malignant neoplasm originating from the surface ovarian epithelium.

Comments:

Reference:

HP:0025318

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysgerminoma (HP:0100621)

Ovarian fibroma (HP:0010618)

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:0025318	HP:0025318	Ovarian carcinoma	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0025318	HP:0025318	Ovarian carcinoma	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0025318	HP:0025318	Ovarian carcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0025318	HP:0025318	Ovarian carcinoma	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0025318	HP:0025318	Ovarian carcinoma	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0025318	HP:0025318	Ovarian carcinoma	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0025318	HP:0025318	Ovarian carcinoma	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0025318	HP:0025318	Ovarian carcinoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0025318	HP:0025318	Ovarian carcinoma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0025318	HP:0025318	Ovarian carcinoma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0025318	HP:0025318	Ovarian carcinoma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0025318	HP:0025318	Ovarian carcinoma	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0025318	HP:0025318	Ovarian carcinoma	0	RAD51C CL E G H	5889	9820	OMIM:613399	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3		391
HP:0025318	HP:0025318	Ovarian carcinoma	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0025318	HP:0025318	Ovarian carcinoma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0025318	HP:0025318	Ovarian carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911

Genes (16) :BRCA1 BRCA2 CDKN2A KRAS PALB2 PALLD PDE11A PRKAR1A PTCH1 PTCH2 PTEN RABL3 RAD51C SMAD4 SUFU TP53

Diseases (5) :ORPHA:1333 ORPHA:1359 OMIM:109400 OMIM:158350 OMIM:613399

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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