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ORPHA:2485

Melorheostosis

low confidenceDisorder

Publications

3,897

Trials

1

Interventional, condition-specific

Researchers

1,325

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone , usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

melorheostosis, isolated, somatic mosaic

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,897 matched papers (2,197 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

    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?

3,897

3,897 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

3,897 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).

2,197 in the last 10 years · low confidence

Phrase hits: 3,897 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,325

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
    Chen X6 papers · 2025

    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  2. 02
    Liu Y5 papers · 2026

    Center for Sleep and Circadian Medicine, Affiliated Brain Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China yaping.liu@cuhk.edu.hk ykwing@cuhk.edu.hk.

    Papers in Europe PMC
  3. 03
    Zhang J5 papers · 2026

    Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Pharmacy School, Fudan University, Shanghai, PR China.

    Papers in Europe PMC
  4. 04
    Bhattacharyya T4 papers · 2025

    Clinical and Investigative Orthopedics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.

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

    Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China.

    Papers in Europe PMC
  6. 06
    Bekar L3 papers · 2026

    Department of Cardiology, Hitit University, Faculty of Medicine, Çorum, Turkey.

    Papers in Europe PMC
  7. 07
    Cerri G3 papers · 2026

    Unidad de Enfermedades Cardiometabólicas, Servicio de Clínica Médica, Hospital Gral. San Martín, La Plata, Argentina.

    Papers in Europe PMC
  8. 08
    Chahine LM3 papers · 2026

    Department of Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.

    Papers in Europe PMC
  9. 09
    Kalçık M3 papers · 2026

    Department of Cardiology, Hitit University, Faculty of Medicine, Çorum, Turkey.

    Papers in Europe PMC
  10. 10
    Minetto J3 papers · 2026

    Unidad de Enfermedades Cardiometabólicas, Servicio de Clínica Médica, Hospital Gral. San Martín, La Plata, Argentina.

    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.

Observational and natural-history studies

2 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

Likely covered — the policy lists Osteopetrosis as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Melorheostosis" OR "melorheostosis, isolated, somatic mosaic"

Run this search on Europe PMC

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

"Melorheostosis" OR "melorheostosis, isolated, somatic mosaic"

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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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 (3897) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T20:18:46.299Z