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ORPHA:2140

Congenital diaphragmatic hernia

low confidenceDisorder

Also known as: CDH

Publications

10,749

Trials

59

Interventional, condition-specific

Researchers

1,068

Distinct authors in sample

Gene link

LONP1, SIN3A, SLIT3

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.

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 (1)

congenital diaphragmatic hernia

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 identifiedPresent

    Moderate — LONP1, SIN3A, SLIT3

  2. LiteraturePresent

    10,749 matched papers (5,628 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

    59 matched on ClinicalTrials.gov (26 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?

Probably — there is moderate evidence for LONP1, SIN3A, SLIT3.

GenCC classification: Moderate.

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?

10,749

10,749 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.

10,749 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).

5,628 in the last 10 years · low confidence

Phrase hits: 10,749 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,068

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
    Kipfmueller F10 papers · 2026

    From the Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  2. 02
    Harting MT7 papers · 2026

    McGovern Medical School at the University of Texas Health Science Center, Department of Pediatric Surgery, Houston, TX, USA. Electronic address: matthew.t.harting@uth.tmc.edu.

    Papers in Europe PMC
  3. 03
    Hedrick HL7 papers · 2026

    The Richard Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, 5th Floor Wood Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA, 19104-4318, USA.

    Papers in Europe PMC
  4. 04
    Patel N7 papers · 2026

    Department of Neonatology, Royal Hospital for Children, Glasgow, United Kingdom.

    Papers in Europe PMC
  5. 05
    Sato Y7 papers · 2026

    Division of Neonatology, Center for Maternal Neonatal Care, Nagoya University Hospital, Nagoya, Japan.

    Papers in Europe PMC
  6. 06
    Boettcher M6 papers · 2026

    Department of Pediatric Surgery, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany.

    Papers in Europe PMC
  7. 07
    Mueller A6 papers · 2026

    Department of Neonatology and Pediatric Intensive Care Medicine, University of Bonn, University Hospital Bonn, Bonn, Germany.

    Papers in Europe PMC
  8. 08
    Ebanks AH5 papers · 2026

    The University of Texas McGovern Medical School, Department of Pediatric Surgery, and Children's Memorial Hermann Hospital, Houston, TX, USA.

    Papers in Europe PMC
  9. 09
    Leyens J5 papers · 2026

    From the Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  10. 10
    Schroeder L5 papers · 2026

    Department of Neonatology and Pediatric Intensive Care Medicine, University of Bonn, University Hospital Bonn, Bonn, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

59

interventional trials for this specific condition

59 interventional trials matched this specific condition name; 26 currently recruiting in our sample.

Data as of 27 July 2026

59 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.4th percentile).

low confidence · 97.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

25 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.

"Congenital diaphragmatic hernia"

Run this search on Europe PMC

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

"Congenital diaphragmatic hernia" OR "LONP1" OR "SIN3A" OR "SLIT3"

Recall-expansion terms: LONP1, SIN3A, SLIT3

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: 59 interventional · 25 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CDH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10749) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:16:30.461Z