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:
Ovarian neoplasm (HP:0100615)

..Starting node
..Ovarian papillary adenocarcinoma (HP:0006774)

Term ID:

6774

Name:

Ovarian papillary adenocarcinoma

Synonym:

Definition:

The presence of a papillary adenocarcinoma of the ovary.

Comments:

Reference:

HP:0006774

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysgerminoma (HP:0100621)

Ovarian carcinoma (HP:0025318)

Ovarian fibroma (HP:0010618)

Ovarian gonadoblastoma (HP:0000149)

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:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer	.	77
HP:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer	.	5
HP:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer	.	162
HP:0006774	HP:0006774	Ovarian papillary adenocarcinoma	0	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer	.	138

Genes (7) :AKT1 CDH1 CTNNB1 ERBB2 OPCML PIK3CA PRKN

Diseases (1) :OMIM:167000

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