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ORPHA:99867

Thymoma

low confidenceDisorder

Publications

402,676

Trials

76

Interventional, condition-specific

Researchers

1,241

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Thymoma is a thymic epithelial neoplasm (TEN), a rare malignancy that arises from the epithelium of the thymic gland.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

primary thymic epithelial neoplasm · primary thymic epithelial tumor · primary thymic epithelial tumour · thymoma · thymoma (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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    402,676 matched papers (274,248 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Neoplasm; Thymoma; Respiratory insufficiency) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    76 matched on ClinicalTrials.gov (17 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0006456

  • Neoplasm
  • Thymoma
  • Respiratory insufficiency
  • Cough
  • Night sweats

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

45

Drugs / clinical candidates · MONDO_0006456

CTD chemicals (MyDisease.info)

2 associated chemicals · 165 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Octreotide · therapeutic
  • Penicillamine · marker/mechanism

Pathways: Endocrine resistance; Platinum drug resistance; MAPK signaling pathway; Sphingolipid signaling pathway; Cell cycle; p53 signaling pathway; Mitophagy - animal; PI3K-Akt signaling pathway

MyDisease.info · MONDO:0006456

Literature

Is anyone studying this?

402,676

402,676 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=3967) is 59.

402,676 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

274,248 in the last 10 years · low confidence

Phrase hits: 402,676 · MeSH hits: 13,391

Open Europe PMC search

Who's working on it?

1,241

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 Y6 papers · 2026

    Department of Cardio-thoracic Surgery, 900 Hospital of Joint Logistic Support Force PLA, School of Clinical Medicine affiliated to Fujian Medical University, Fuzhou, 350001, China.

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

    Thoracic Surgery, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

    Papers in Europe PMC
  3. 03
    Zhang X5 papers · 2026

    State Key Laboratory of Pathogenesis, Prevention, and Treatment of Central Asian High Incidence Diseases, Clinical Medical Research Institute, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.

    Papers in Europe PMC
  4. 04
    Chen J4 papers · 2026

    Huashan Rare Disease Center & Department of Neurology, Huashan Hospital, Shanghai Medical College, National Center for Neurological Disorders, Fudan University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Liu J4 papers · 2026

    Department of Critical Care Medicine, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  6. 06
    Wang F4 papers · 2026

    Department of Obstetrics and Gynecology, The Second Hospital of Hebei Medical University, No. 215 Heping Xi Road, Shijiazhuang, 050000, Hebei, China.

    Papers in Europe PMC
  7. 07
    Wang J4 papers · 2026

    Department of Nuclear Medicine, Xijing Hospital, Fourth Military Medical University, Xi'an.

    Papers in Europe PMC
  8. 08
    Xu H4 papers · 2026

    Department of Clinical Laboratory, Honghui Hospital, Xi'an Jiaotong University, Xi'an, China.

    Papers in Europe PMC
  9. 09
    Zhang L4 papers · 2026

    Department of Diagnostic Radiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  10. 10
    Zhang Y4 papers · 2026

    Department of Stomatology, The People's Hospital of Pingyang, Pingyang County, Wenzhou City, Zhejiang Province, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

76

interventional trials for this specific condition

76 interventional trials matched this specific condition name; 17 currently recruiting in our sample.

Data as of 11 September 2026

76 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.1th percentile).

low confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

17 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Thymoma — check Associations / patient organisations on that page.

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.

"Thymoma" OR "primary thymic epithelial neoplasm" OR "primary thymic epithelial tumor" OR "primary thymic epithelial tumour" OR "thymoma (disease)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Thymoma

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

"Thymoma" OR "primary thymic epithelial neoplasm" OR "primary thymic epithelial tumor" OR "primary thymic epithelial tumour" OR "thymoma (disease)"

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

Study-type breakdown: 76 interventional · 17 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 (402676) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:26:14.012Z