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ORPHA:55880

Chondrosarcoma

medium confidenceDisorder

Publications

29,117

99th percentile

Trials

69

Interventional, condition-specific

Researchers

1,236

Distinct authors in sample

Gene link

EXT1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

chondrosarcoma · chondrosarcoma (disease) · chondrosarcoma, malignant · chondrosarcoma, somatic mutation

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — EXT1

  2. LiteraturePresent

    29,117 matched papers (14,461 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    69 matched on ClinicalTrials.gov (11 recruiting in sample)

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?

Yes — we know a specific gene responsible (EXT1).

GenCC classification: Strong.

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?

29,117

29,117 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.

29,117 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).

14,461 in the last 10 years · medium confidence · 99th percentile (publications denominator)

Phrase hits: 29,117 · MeSH hits: 1,339

Open Europe PMC search

Who's working on it?

1,236

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.

  1. 01
    Li Z5 papers · 2025

    Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  2. 02
    Liu X5 papers · 2025

    The Musculoskeletal Tumor Center, Peking University People's Hospital, Xicheng District, Beijing, China.

    Papers in Europe PMC
  3. 03
    Wang J4 papers · 2026

    The Musculoskeletal Tumor Center, Peking University People's Hospital, Xicheng District, Beijing, China.

    Papers in Europe PMC
  4. 04
    Yang X4 papers · 2024

    Department of Thoracic Surgery, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, No. 55, Section 4, South Renmin Road, Chengdu, 610041, Sichuan, China.

    Papers in Europe PMC
  5. 05
    Zhang Y4 papers · 2025

    Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  6. 06
    Botchu R3 papers · 2025

    Consultant MSK Radiologist, Royal Orthopedic Hospital, Birmingham, B31 2AP, UK.

    Papers in Europe PMC
  7. 07
    Hu P3 papers · 2025

    Department of Orthopedics and Beijing Key Laboratory of Spinal Disease Research, Peking University Third Hospital, 49 North Garden Rd, Haidian District, Beijing, 100191, China.

    Papers in Europe PMC
  8. 08
    Li J3 papers · 2025

    Department of Pharmaceutical Health Outcomes and Policy, University of Houston College of Pharmacy, Houston, TX, USA.

    Papers in Europe PMC
  9. 09
    Li Y3 papers · 2025

    Department of Orthopedics, Xiangya Hospital, Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  10. 10
    Liu C3 papers · 2024

    Department of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

69

interventional trials for this specific condition

69 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 27 July 2026

69 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.9th percentile).

medium confidence · 97.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

69 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

15 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 2026-07-26

This 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.

"Chondrosarcoma" OR "chondrosarcoma (disease)" OR "chondrosarcoma, malignant" OR "chondrosarcoma, somatic mutation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chondrosarcoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Chondrosarcoma" OR "chondrosarcoma (disease)" OR "chondrosarcoma, malignant" OR "chondrosarcoma, somatic mutation" OR "EXT1"

Recall-expansion terms: EXT1

Interventional trials matched via: both, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 69 interventional · 15 observational · 2 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

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

Ingested 2026-07-27T00:58:26.088Z