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ORPHA:660

Omphalocele

medium confidenceDisorder

Publications

7,500

92.6th percentile

Trials

2

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

—

Readiness

4/6

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.”

4/6 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 characterisedPresent

    6 HPO annotations (e.g. Omphalocele; Restrictive ventilatory defect; Fetal ultrasound soft marker) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  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)

6

Associated phenotypes · MONDO:0019015

  • Omphalocele
  • Restrictive ventilatory defect
  • Fetal ultrasound soft marker
  • Premature birth

Showing 4 of 6 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

7,500 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).

3,260 in the last 10 years · medium confidence · 92.6th 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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

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 11 · after dedupe 11 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 11 · dropped 0 · fetched 2026-07-29

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 (11)

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 Omphalocele — 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.

"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