Nosology of genetic skeletal disorders: 2023 revision
University of Lausanne · National Institutes of Health · +33 more institutions
Abstract
The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data.…
Citation impact
- FWCI
- 105.28
- Percentile
- 100%
- References
- 21
Authors
21- SUSheila Unger
University of Lausanne
- CRCarlos R. Ferreira
National Institutes of Health, National Human Genome Research Institute
- GMGeert Mortier
Center for Human Genetics, KU Leuven
- HAHouda Ali
Inserm, Orphanet
- DRDébora Romeo Bertola
Universidade de São Paulo, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
Topics & keywords
- Nosology
- Computational biology
- Genetics
- Biology
- Bioinformatics
- Computer science
- Psychology
- Psychiatry
Funding
- JHJohns Hopkins University
- WTWellcome Trust
- DODepartment of Biotechnology, Ministry of Science and Technology, India
- SJSigrid Juséliuksen Säätiö
- UDUniversité de Lausanne
- TWThe Wellcome Trust DBT India AllianceAward: IA/CRC/20/1/600002
- NINational Institutes of Health
- MRMedical Research Council
- NHNational Health and Medical Research Council
- NHNational Human Genome Research Institute