ORPHA:563991
Osteochondrosis of the tarsal bone
Also known as: Aseptic necrosis of the tarsal bone · Avascular necrosis of the tarsal bone · Kohler disease
Publications
179
53.3th percentile
Trials
0
Interventional, condition-specific
Researchers
461
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016086
- UMLS:C0158444
Additional Mondo synonyms (4)
Kohler's disease · aseptic necrosis of the tarsal bone · juvenile osteochondrosis of foot · osteochondritis of tarsal/metatarsal bone
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
179 matched papers (50 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 trialPartial
None under the specific name; 4 for broader category osteochondrosis
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?
179
179 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
179 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).
50 in the last 10 years · high confidence · 53.3th percentile (publications denominator)
Phrase hits: 179 · MeSH hits: 0
Who's working on it?
461
Distinct author names in 179 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Wakeley CP4 papers · 1930Papers in Europe PMC
- 02Ball S2 papers · 2026
School of Health Sciences and Nursing, Macquarie University, Sydney, Australia.
Papers in Europe PMC - 03Cirillo M2 papers · 2024
Department of Radiology, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Papers in Europe PMC - 04Fournet-Fayard J2 papers · 1983Papers in Europe PMC
- 05Hefti F2 papers · 1999
Kinderorthopädische Universitätsklinik, Universitäts-Kinderspital beider Basel.
Papers in Europe PMC - 06Ippolito E2 papers · 1984Papers in Europe PMC
- 07Li J2 papers · 2017
Department of Mathematics, University of Waterloo, Waterloo, N2L 3G1, Canada.
Papers in Europe PMC - 08Musolino A2 papers · 2024
Residency School of Pediatrics, University of Rome Tor Vergata, 00133 Rome, Italy.
Papers in Europe PMC - 09Pacey V2 papers · 2026
School of Health Sciences and Nursing, Macquarie University, Sydney, Australia.
Papers in Europe PMC - 10Thomas R2 papers · 2026
School of Health Sciences and Nursing, Macquarie University, Sydney, Australia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for osteochondrosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
4 interventional trials matched osteochondrosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: osteochondrosis
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Osteochondrosis of the tarsal bone" OR "Osteochondrosis of tarsal bone" OR "Aseptic necrosis of the tarsal bone" OR "Aseptic necrosis of tarsal bone" OR "Avascular necrosis of the tarsal bone" OR "Avascular necrosis of tarsal bone" OR "Kohler disease" OR "Kohler's disease" OR "juvenile osteochondrosis of foot" OR "juvenile osteochondrosis of the foot" OR "osteochondritis of tarsal/metatarsal bone" OR "osteochondritis of the tarsal/metatarsal bone"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteochondrosis of the tarsal bone" OR "Osteochondrosis of tarsal bone" OR "Aseptic necrosis of the tarsal bone" OR "Aseptic necrosis of tarsal bone" OR "Avascular necrosis of the tarsal bone" OR "Avascular necrosis of tarsal bone" OR "Kohler disease" OR "Kohler's disease" OR "juvenile osteochondrosis of foot" OR "juvenile osteochondrosis of the foot" OR "osteochondritis of tarsal/metatarsal bone" OR "osteochondritis of the tarsal/metatarsal bone"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"osteochondrosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T18:23:00.613Z