ORPHA:58040
Osteoblastoma
Publications
6,737
Trials
1
Interventional, condition-specific
Researchers
1,090
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly , dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018936
- MeSH:D018215
- UMLS:C0029417
- NCIT:C3294
Additional Mondo synonyms (6)
giant osteoid osteoma · ossifying giant cell tumor · ossifying giant cell tumour · osteoblastoma · osteoblastoma (disease) · osteoblastoma, benign
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6,737 matched papers (3,600 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
6,737
6,737 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
6,737 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
3,600 in the last 10 years · low confidence
Phrase hits: 6,737 · MeSH hits: 257
Who's working on it?
1,090
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Li Y6 papers · 2026
Department of Radiology, Peking University Shenzhen Hospital, Shenzhen 518000, China.
Papers in Europe PMC - 02Liu X3 papers · 2025
Department of Orthopedics and Beijing Key Laboratory of Spinal Disease Research, Peking University Third Hospital, Beijing, China.
Papers in Europe PMC - 03Liu Z3 papers · 2025
Department of Orthopedics and Beijing Key Laboratory of Spinal Disease Research, Peking University Third Hospital, Beijing, China.
Papers in Europe PMC - 04Wang Y3 papers · 2026
Spine Center Sanbo Brain Hospital, Capital Medical University Beijing China.
Papers in Europe PMC - 05Wei F3 papers · 2026
Department of Orthopedics and Beijing Key Laboratory of Spinal Disease Research, Peking University Third Hospital, Beijing, China.
Papers in Europe PMC - 06Zhang Y3 papers · 2026
Department of Nuclear Medicine, Qinghai Province People's Hospital, Xining, Qinghai, China.
Papers in Europe PMC - 07Baeza Ramos JH2 papers · 2025
Plastic & Reconstructive Surgery Department, Central University Hospital Dr. Jesús Enrique Grajeda Herrera, Autonomous University of Chihuahua, Chihuahua 31200, Mexico.
Papers in Europe PMC - 08Basha SS2 papers · 2024
Department of Oral Maxillofacial Surgery, Government Dental College, Trivandrum, Kerala, India.
Papers in Europe PMC - 09Bell D2 papers · 2024
Department of Pathology, The University of Texas M.D. Anderson Cancer Center.
Papers in Europe PMC - 10Botanlioglu H2 papers · 2025
Department of Orthopaedics and Traumatology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, TUR.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Osteoblastoma" OR "giant osteoid osteoma" OR "ossifying giant cell tumor" OR "ossifying giant cell tumour" OR "osteoblastoma (disease)" OR "osteoblastoma, benign"
MeSH descriptor terms unioned into the query: Osteoblastoma
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteoblastoma" OR "giant osteoid osteoma" OR "ossifying giant cell tumor" OR "ossifying giant cell tumour" OR "osteoblastoma (disease)" OR "osteoblastoma, benign"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (6737) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T01:00:25.060Z