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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| 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 |