ORPHA:1135
Arrhinia-choanal atresia-microphthalmia syndrome
Publications
119
68.4th percentile
Trials
0
Interventional, condition-specific
Researchers
896
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (1)
Bosma Arhinia Microphthalmia Syndrome
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
119 matched papers (112 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
119
119 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
119 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).
112 in the last 10 years · medium confidence · 68.4th percentile (publications denominator)
Phrase hits: 119 · MeSH hits: 0
Who's working on it?
896
Distinct author names in 119 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.
- 01Blewitt ME14 papers · 2026
Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
Papers in Europe PMC - 02Magdinier F12 papers · 2026
Aix-Marseille Univ-INSERM, MMG, 13005 Marseille, France.
Papers in Europe PMC - 03Reversade B11 papers · 2026
Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
Papers in Europe PMC - 04Xue S11 papers · 2026
Department of Biological Sciences, National University of Singapore, Singapore, Singapore.
Papers in Europe PMC - 05Shaw ND10 papers · 2025
Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.
Papers in Europe PMC - 06Murphy JM9 papers · 2026
The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Papers in Europe PMC - 07Gurzau AD8 papers · 2026
The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Papers in Europe PMC - 08van der Maarel SM8 papers · 2023
Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Papers in Europe PMC - 09Laberthonnière C7 papers · 2025
Aix-Marseille Univ-INSERM, MMG, 13005 Marseille, France.
Papers in Europe PMC - 10
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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.
"Arrhinia-choanal atresia-microphthalmia syndrome" OR "Bosma Arhinia Microphthalmia Syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Arrhinia-choanal atresia-microphthalmia syndrome" OR "Bosma Arhinia Microphthalmia Syndrome"
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "Arrhinia-choanal atresia-microphthalmia syndrome" also appears on ORPHA:2250
- "Bosma Arhinia Microphthalmia Syndrome" also appears on ORPHA:2250
Ingested 2026-07-26T16:29:40.328Z