International Skeletal Dysplasia Registry
The International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center is a referral center for research into the diagnosis, management, and aetiology of the skeletal dysplasias.
International Skeletal Dysplasia Society
An independent scientific society devoted to the scientific progress in the field of skeletal dysplasias and dysostoses. The ISDS curates the "Nosology of Genetic Skeletal Disorders", a list of skeletal conditions that is revised periodically. The site offers downloads of scientific literature.
The Skeletome Thesaurus Project Website. A project which aims to transform the International Nosology of Constitutional Disorders of Bone into an online knowledgebase.
On line Mendelian Inheritance in Man
The OMIM database is a catalogue of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere and developed for the World Wide Web by the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information. It also contains copious links to NCBI's Entrez database of MEDLINE articles and sequence information.
Center for the Study of Genetic Bone and Joint Disorders
A consortium of professionals committed to a better understanding of human diseases affecting the skeletal system.
The Greenberg Center for Skeletal Dysplasias at Johns Hopkins
The Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias is dedicated to the medical care and education of persons with skeletal dysplasias, and to the clinical and laboratory investigation into these conditions. Toward this end, the Center brings together a multidisciplinary team of doctors and investigators dedicated to improving the quality of life for persons of short stature, and furthering basic scientific knowledge about the many causes of dwarfism.
The European Molecular Genetics Quality Network
The European Molecular Genetics Quality Network (EMQN) was set up in 1998 with funding from the European Commission (Contract No. SMT4-CT98-7515). Their aim is to promote quality in genetics testing through the promotion of external quality assessment and best practice.
The Pathophysiology of the Cartilage Growth Plate - EuroGrow - project aims to determine the molecular, cell and extracellular matrix pathology of a number of distinct chondrodysplasia phenotypes, which result from mutations in a variety of different gene products that are important for normal bone development.
Based at the Centre for Pediatrics and Adolescent Medicine and the Institute of Human Genetics of the University of Freiburg, Germany, Skeldys provides information, diagnostic services and courses for Skeletal Dysplasias.
Dyscerne - A European Network of Centres of Expertise for Dysmorphology
Dyscerne is a European Commission funded project which aims to improve the diagnosis, clinical management and information dissemination for rare dysmorphic diseases.
