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ORPHA:1201

Small bowel atresia

medium confidenceDisorder

Also known as: Atresia of small bowel · Atresia of small intestine · Jejunal atresia · Jejunoileal atresia · SBA · Small intestinal atresia

Publications

1,920

86.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,107

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, defect of the small intestine characterized by disruption in the normal small intestine continuity, resulting in intestinal obstruction. The may be classified in four different types of small bowel atresia (SBA) based on the anatomical obstruction.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

Jejunal Atresia · apple peel syndrome · atresia of the small intestine · congenital small intestine atresia · intestinal atresia type IIIb · jejunal atresia · small intestinal atresia · small intestine atresia

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,920 matched papers (906 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Short stature; Jejunal atresia; Feeding difficulties) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

12

Associated phenotypes · MONDO:0009476

  • Short stature
  • Jejunal atresia
  • Feeding difficulties
  • Abnormal vascular morphology
  • Intestinal hypoplasia

Showing 5 of 12 — 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

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

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cocaine · marker/mechanism

MyDisease.info · MONDO:0009476

Literature

Is anyone studying this?

1,920

1,920 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=3967) is 59.

1,920 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).

906 in the last 10 years · medium confidence · 86.9th percentile (publications denominator)

Phrase hits: 1,920 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,107

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Msuya D4 papers · 2026

    Department of General Surgery, Kilimanjaro Christian Medical Centre, Moshi, Tanzania.

    Papers in Europe PMC
  2. 02
    Chen D3 papers · 2026

    Department of Ultrasound, Guangdong Women and Children's Hospital, Guangzhou, China.

    Papers in Europe PMC
  3. 03
    Hu S3 papers · 2025

    Department of Neonatal Surgery, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

    Papers in Europe PMC
  4. 04
    Lodhia J3 papers · 2024

    Department of General Surgery, Kilimanjaro Christian Medical Centre, Moshi, Tanzania.

    Papers in Europe PMC
  5. 05
    Pakarinen MP3 papers · 2026

    Department of Pediatric Surgery, The New Children's Hospital, University of Helsinki, Stenbäckinkatu 9, 00029 HUS, Helsinki, Finland; Department of Women's and Children's Health, Karoliska Institutet, Stockholm, Sweden.

    Papers in Europe PMC
  6. 06
    Rentea RM3 papers · 2026

    Children's Mercy

    Papers in Europe PMC
  7. 07
    Tsuruno Y3 papers · 2026

    Department of Pediatric Surgery, Himeji Red Cross Hospital, 1-12-1, Shimoteno, Himeji, Hyogo, 670-8540, Japan.

    Papers in Europe PMC
  8. 08
    Ahmad H2 papers · 2026

    Department of Pediatric Surgery, Children's Hospital of Orange County, University of California Irvine School of Medicine, CA, USA.

    Papers in Europe PMC
  9. 09
    Aly H2 papers · 2024

    Department of Neonatology, Cleveland Clinic Children's, Cleveland, Ohio.

    Papers in Europe PMC
  10. 10
    Badillo A2 papers · 2026

    Department of Colorectal and Pelvic Reconstruction, Children's National, Washington, District of Columbia, United States.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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 (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 Small bowel atresia — 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.

"Small bowel atresia" OR "Atresia of small bowel" OR "Atresia of the small bowel" OR "Atresia of small intestine" OR "Atresia of the small intestine" OR "Jejunal atresia" OR "Jejunoileal atresia" OR "Small intestinal atresia" OR "apple peel syndrome" OR "congenital small intestine atresia" OR "intestinal atresia type IIIb" OR "small intestine atresia"

Run this search on Europe PMC

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

"Small bowel atresia" OR "Atresia of small bowel" OR "Atresia of the small bowel" OR "Atresia of small intestine" OR "Atresia of the small intestine" OR "Jejunal atresia" OR "Jejunoileal atresia" OR "Small intestinal atresia" OR "apple peel syndrome" OR "congenital small intestine atresia" OR "intestinal atresia type IIIb" OR "small intestine atresia"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: SBA

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

Ingested 2026-07-26T16:40:54.409Z