RARE DISEASERESEARCH ATLAS
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ORPHA:660

Omphalocele

medium confidenceDisorder

Publications

7,500

96.5th percentile

Trials

2

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, non-syndromic, abdominal wall characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

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 (4)

congenital omphalocele · exomphalos · omphalocele · omphalocele (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.”

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

    7,500 matched papers (3,260 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

    2 matched on ClinicalTrials.gov (1 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)

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?

7,500

7,500 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.

7,500 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).

3,260 in the last 10 years · medium confidence · 96.5th percentile (publications denominator)

Phrase hits: 7,500 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,136

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
    Hînganu MV5 papers · 2026

    Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iassy, Romania.

    Papers in Europe PMC
  2. 02
    Al Namat R4 papers · 2026

    Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iassy, Romania.

    Papers in Europe PMC
  3. 03
    Hanganu E4 papers · 2026

    Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", 700115 Iasi, Romania.

    Papers in Europe PMC
  4. 04
    Hînganu D4 papers · 2026

    Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa", 700115 Iasi, Romania.

    Papers in Europe PMC
  5. 05
    Al Namat D3 papers · 2025

    "Saint Mary" Emergency Children Hospital, 700309 Iassy, Romania.

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

    Departmental Section of Anatomy and Embryology, School of Veterinary Medicine, Universidad Complutense de Madrid, Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Bernic J3 papers · 2026

    Discipline of Pediatric Surgery, "Nicolae Testemițanu" State University of Medicine and Pharmacy, 2025 Chisinau, Moldova.

    Papers in Europe PMC
  8. 08
    Davenport M3 papers · 2025

    Department of Paediatric Surgery, King's College Hospital NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  9. 09
    Derikx JPM3 papers · 2026

    Amsterdam Reproduction and Development, Amsterdam, the Netherlands.

    Papers in Europe PMC
  10. 10
    Edwards JK3 papers · 2025

    Gillings School of Global Public Health, Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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.

"Omphalocele" OR "congenital omphalocele" OR "exomphalos" OR "omphalocele (disease)"

Run this search on Europe PMC

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

"Omphalocele" OR "congenital omphalocele" OR "exomphalos" OR "omphalocele (disease)"

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: 2 interventional · 5 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

Ingested 2026-07-26T14:48:03.763Z