ORPHA:93280
Spondyloepiphyseal dysplasia, Omani type
Publications
21
Trials
0
Interventional, condition-specific
Researchers
192
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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
21 matched papers (8 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?
21
21 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.
21 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).
8 in the last 10 years · low confidence
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
192
Distinct author names in 21 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.
- 01Mizumoto S6 papers · 2021
Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science, Hokkaido University, Sapporo 001-0021 Japan.
Papers in Europe PMC - 02Rossi A4 papers · 2020
Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. antrossi@unipv.it.
Papers in Europe PMC - 03Sugahara K4 papers · 2014
Laboratory of Proteoglycan Signaling and Therapeutics, Frontier Research Center for Post-Genomic Science and Technology, Graduate School of Life Science, Hokkaido University, West-11, North-21, Kita-ku, Sapporo, Hokkaido 001-0021, Japan.
Papers in Europe PMC - 04Yamada S4 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 05Mundlos S3 papers · 2013
Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, People’s Republic of China. Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan. Department of Orthopaedic and Neuro-Musculoskeletal Surgery, Faculty of Medical and Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan. Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, People’s Republic of China. Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan. Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Tokyo, Japan. Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan. Department of Orthopaedics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. Spine Center, Hakodate Central General Hospital, Hakodate, Japan. The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, People’s Republic of China. Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, People’s Republic of China. Department of Orthopedics, Beijing Jishuitan Hospital, Beijing, People’s Republic of China. Department of Spinal Surgery, Beijing Jishuitan Hospital, The 4th Clinical Medical College of Peking University, Beijing, People’s Republic of China. Open University of Hong Kong, Hong Kong, People’s Republic of China. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, People’s Republic of China. Department of Psychiatry, The University of Hong Kong, Pokfulam, Hong Kong, People’s Republic of China. Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany. Oulu Center for Cell-Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology of Oulu, Oulu, Finland. Department of Surgery, University Hospital of Oulu, Oulu, Finland. Finnish Institute of Occupational Health, Health and Work Ability, and Disability Prevention Centre, Oulu, Finland. Institute of Clinical Medicine, Department of Physical and Rehabilitation Medicine Institute of Health Sciences, Public Health and General Practice, University of Oulu, Oulu, Finland. Department of Epidemiology and Biostatistics, School of Public Health, Imperial College, Faculty of Medicine, London, United Kingdom. Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Tokyo, Japan. Laboratory for Medical Informatics, Center for Genomic Medicine, RIKEN, Yokohama, Japan.
Papers in Europe PMC - 06Ikegawa S2 papers · 2013
Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong, People’s Republic of China. Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan. Department of Orthopaedic and Neuro-Musculoskeletal Surgery, Faculty of Medical and Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan. Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, People’s Republic of China. Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan. Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Tokyo, Japan. Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan. Department of Orthopaedics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. Spine Center, Hakodate Central General Hospital, Hakodate, Japan. The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, People’s Republic of China. Laboratory for Bone and Joint Diseases, Model Animal Research Center, Nanjing University, Nanjing, People’s Republic of China. Department of Orthopedics, Beijing Jishuitan Hospital, Beijing, People’s Republic of China. Department of Spinal Surgery, Beijing Jishuitan Hospital, The 4th Clinical Medical College of Peking University, Beijing, People’s Republic of China. Open University of Hong Kong, Hong Kong, People’s Republic of China. Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, People’s Republic of China. Department of Psychiatry, The University of Hong Kong, Pokfulam, Hong Kong, People’s Republic of China. Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany. Oulu Center for Cell-Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology of Oulu, Oulu, Finland. Department of Surgery, University Hospital of Oulu, Oulu, Finland. Finnish Institute of Occupational Health, Health and Work Ability, and Disability Prevention Centre, Oulu, Finland. Institute of Clinical Medicine, Department of Physical and Rehabilitation Medicine Institute of Health Sciences, Public Health and General Practice, University of Oulu, Oulu, Finland. Department of Epidemiology and Biostatistics, School of Public Health, Imperial College, Faculty of Medicine, London, United Kingdom. Laboratory for Statistical Analysis, Center for Genomic Medicine, RIKEN, Tokyo, Japan. Laboratory for Medical Informatics, Center for Genomic Medicine, RIKEN, Yokohama, Japan.
Papers in Europe PMC - 07Superti-Furga A2 papers · 2020
Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland.
Papers in Europe PMC - 08Tuysuz B2 papers · 2012
Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. beyhan@istanbul.edu.tr
Papers in Europe PMC - 09Abu-Libdeh BY1 paper · 2012Papers in Europe PMC
- 10Afratis N1 paper · 2014
Laboratory of Biochemistry, Department of Chemistry, University of Patras, 26504 Patras, Greece. nafratis@upatras.gr.
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 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.
low 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.
"Spondyloepiphyseal dysplasia, Omani type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloepiphyseal dysplasia, Omani type"
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
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T04:10:53.440Z