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ORPHA:2764

Osteochondritis dissecans

medium confidenceDisorder

Also known as: König disease

Publications

5,395

95.9th percentile

Trials

16

Interventional, condition-specific

Researchers

925

Distinct authors in sample

Gene link

ACAN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Koenig disease · Konig disease · OD · osteochondritis dissecans · osteochondritis dissecans (disease)

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

    Definitive — ACAN

  2. LiteraturePresent

    5,395 matched papers (2,407 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

    16 matched on ClinicalTrials.gov (3 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 (ACAN).

GenCC classification: Definitive.

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?

5,395

5,395 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.

5,395 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).

2,407 in the last 10 years · medium confidence · 95.9th percentile (publications denominator)

Phrase hits: 5,395 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

925

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
    Ganley TJ9 papers · 2026

    The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  2. 02
    Shea KG9 papers · 2026

    Stanford School of Medicine, Stanford, California.

    Papers in Europe PMC
  3. 03
    Fabricant PD8 papers · 2026

    Hospital for Special Surgery, New York, New York.

    Papers in Europe PMC
  4. 04
    Ellis HB Jr7 papers · 2026

    Texas Scottish Rite Hospital for Children, Dallas, Texas.

    Papers in Europe PMC
  5. 05
    Nguyen JC7 papers · 2026

    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  6. 06
    Wilson P7 papers · 2026

    Texas Scottish Rite Hospital for Children, Dallas, Texas.

    Papers in Europe PMC
  7. 07
    Tompkins MA6 papers · 2026

    Gillette Children's Specialty Healthcare, University of Minnesota, and TRIA Orthopaedic Center, Minneapolis, Minnesota.

    Papers in Europe PMC
  8. 08
    Bram JT5 papers · 2026

    Hospital for Special Surgery, New York, New York, USA.

    Papers in Europe PMC
  9. 09
    Green DW5 papers · 2026

    Hospital for Special Surgery, New York, New York.

    Papers in Europe PMC
  10. 10
    An SJ4 papers · 2026

    Department of Intelligent System Engineering, Cheju Halla University, Jeju 63092, Korea.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

16

interventional trials for this specific condition

16 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

16 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.7th percentile).

medium confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

13 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.

"Osteochondritis dissecans" OR "König disease" OR "Koenig disease" OR "Konig disease" OR "osteochondritis dissecans (disease)"

Run this search on Europe PMC

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

"Osteochondritis dissecans" OR "König disease" OR "Koenig disease" OR "Konig disease" OR "osteochondritis dissecans (disease)" OR "ACAN"

Recall-expansion terms: ACAN

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

Study-type breakdown: 16 interventional · 13 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T21:06:42.561Z