Ovarian benign neoplasm

Summary

Ovarian benign neoplasm (MONDO:0000646) is a cancer (an umbrella term covering 15 Mondo subtypes) with 1 GWAS associations across 5 studies and 4 clinical trials. A subtype of benign female reproductive system neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 15 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ovarian benign neoplasm
Mondo ID	MONDO:0000646
EFO	EFO:1000116
DOID	DOID:0060112
ICD-11	181365103
NCIT	C2895
SNOMED CT	92260003
UMLS	C0004997
MedGen	14058
Anatomy (UBERON)	UBERON:0000992
Is cancer (heuristic)	yes

Also known as: benign neoplasm of ovary · benign neoplasm of the ovary · benign ovarian neoplasm · benign ovarian tumor · benign ovarian tumour · benign tumor of ovary · benign tumor of the ovary · benign tumour of ovary · benign tumour of the ovary · ovary benign neoplasm

Data availability: 1 GWAS association (5 studies).

Disease family

This is a subtype of benign female reproductive system neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › benign reproductive system neoplasm › benign female reproductive system neoplasm › ovarian benign neoplasm

Related subtypes (6): uterine benign neoplasm, vulvar benign neoplasm, fallopian tube benign neoplasm, benign vaginal neoplasm, adenomyoma, adenofibroma

Subtypes (15): benign struma ovarii, ovarian endometrioid adenofibroma, ovarian clear cell adenofibroma, ovarian surface papilloma, ovarian mucinous adenofibroma, rete ovarii cystadenofibroma, ovarian adenoma benign, ovarian serous adenofibroma, ovarian fibroma, serous or mucinous cystadenoma of childhood, Meigs syndrome, pseudo-Meigs syndrome, atypical Meigs syndrome, benign ovarian sex cord-stromal tumor, benign ovarian mucinous tumor

Genetics & variants

GWAS landscape

1 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs10963930	4e-07	SAXO1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90652130	Liu TY	2025	3,925	108,304	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90079690	Backman JD	2021	1,704	210,162	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083676	Backman JD	2021	1,704	210,162	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90435669	Zhou W	2018	1,482	380,325	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90726696	Kim HI	2026	193	43,833	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs10963930	9	19047689	G>A,C	0.05	intron_variant	SAXO1	4e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04651946	PHASE2	UNKNOWN	Cell-free DNA Methylation for Epithelial Ovarian Cancer
NCT01683877	Not specified	COMPLETED	Efficacy Study of FloSeal in Hemostasis After Laparoscopic Ovarian Cystectomy
NCT03779399	Not specified	COMPLETED	Treg, Th17 Cells, NKT in Epithelial Ovarian Tumor
NCT06201221	Not specified	COMPLETED	Single-port Laparoscopy in Children and Adolescents