The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

BACKGROUND: Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associ...

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Detalles Bibliográficos
Autores principales: Groza, Tudor, Hunter, Jane, Zankl, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338382/
https://www.ncbi.nlm.nih.gov/pubmed/22449239
http://dx.doi.org/10.1186/1471-2105-13-50

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338382/
https://www.ncbi.nlm.nih.gov/pubmed/22449239
http://dx.doi.org/10.1186/1471-2105-13-50

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