ORPHA:2751
Orofaciodigital syndrome type 2
Also known as: Oral-facial-digital syndrome type 2 · Mohr syndrome · OFD2
Publications
124
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
567
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental disorder in the ciliopathy group characterized by craniofacial, oral and digital features.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009642
- OMIM:252100
- UMLS:C0026363
Additional Mondo synonyms (2)
MOHR syndrome · oral-facial-digital syndrome type 2
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
124 matched papers (31 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?
124
124 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.
124 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).
31 in the last 10 years · medium confidence · 44.5th percentile (publications denominator)
Phrase hits: 124 · MeSH hits: 0
Who's working on it?
567
Distinct author names in 124 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.
- 01Baraitser M5 papers · 1989
The Hospital for Sick Children, Great Ormond Street, London WC1N 3JH
Papers in Europe PMC - 02Burn J3 papers · 1991
MRC Clinical Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH.
Papers in Europe PMC - 03Thauvin-Robinet C3 papers · 2023
EA GAD, IFR Santé-STIC, Université de Bourgogne, Dijon, France ; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs » de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Papers in Europe PMC - 04Chandra A2 papers · 2015
Department of Conservative Dentistry and Endodontics, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India.
Papers in Europe PMC - 05Chatra L2 papers · 2014
Department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Deralakatte, Mangalore, Karnataka, India.
Papers in Europe PMC - 06Cormier-Daire V2 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 07Das RR2 papers · 2013Papers in Europe PMC
- 08David A2 papers · 2012Papers in Europe PMC
- 09Franceschini P2 papers · 1995
Istituto di Discipline Pediatriche, Servizio di Genetica Clinica, Chivasso, Italy.
Papers in Europe PMC - 10Gustavson KH2 papers · 1990Papers 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 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.
Broader category orofaciodigital syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: orofaciodigital syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Orofaciodigital syndrome type 2" OR "Oral-facial-digital syndrome type 2" OR "Mohr syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Orofaciodigital syndrome type 2" OR "Oral-facial-digital syndrome type 2" OR "Mohr syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"orofaciodigital syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OFD2
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 2026-07-26T21:03:46.935Z