Bone benign neoplasm

Summary

Bone benign neoplasm (MONDO:0000631) is a cancer (an umbrella term covering 19 Mondo subtypes) with 1 GWAS associations across 1 studies and 1 clinical trial. A subtype of benign connective and soft tissue neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 19 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bone benign neoplasm
Mondo ID	MONDO:0000631
DOID	DOID:0060094
NCIT	C4880
SNOMED CT	92027006
UMLS	C0684516
MedGen	146337
GARD	0022813
Anatomy (UBERON)	UBERON:0002481
Is cancer (heuristic)	yes

Also known as: benign bone neoplasm · benign bone tumor · benign bone tumour · benign neoplasm of bone · benign neoplasm of the bone · benign osseous neoplasm · benign osseous tumor · benign osseous tumour · benign tumor of bone · benign tumor of the bone · benign tumour of bone · benign tumour of the bone · bone tissue benign neoplasm

Data availability: 1 GWAS association (1 study).

Disease family

This is a subtype of benign connective and soft tissue 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 body system or component › musculoskeletal system disorder › musculoskeletal system benign neoplasm › benign connective and soft tissue neoplasm › bone benign neoplasm

Related subtypes (4): benign soft tissue neoplasm, benign lipomatous neoplasm, benign osteogenic neoplasm, lipofibromatosis

Subtypes (19): bone ameloblastoma, phalanx chondroma, ossifying fibroma, periosteal chondroma, chondroblastoma, osteoma, paranasal sinus Schneiderian papilloma, osteoid osteoma, CHILD syndrome, chondromyxoid fibroma, craniopharyngioma, osteoblastoma, benign neoplasm of pituitary gland, benign neoplasm of sphenoidal sinus, benign neoplasm of frontal sinus, benign neoplasm of maxillary sinus, benign neoplasm of ethmoidal sinus, benign neoplasm of lower jaw bone, desmoplastic fibroma

Genetics & variants

GWAS landscape

1 GWAS associations across 1 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
rs188442131	1e-08	GNG4	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90651504	Liu TY	2025	203	188,123	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs188442131	1	235576168	C>G		intron_variant	GNG4	1e-08	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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02618369	Not specified	COMPLETED	MR-Guided High Intensity Focused Ultrasound for Pain Management Of Osteoid Osteoma & Benign Bone Tumors in Children and Adults