Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.

作者: Ana Rath , Annie Olry , Ferdinand Dhombres , Maja Miličić Brandt , Bruno Urbero

DOI: 10.1002/HUMU.22078

关键词:

摘要: … For example, Bardet–Biedl syndrome is classified as a developmental anomaly syndrome and as an endocrine disease, and, among endocrine diseases, as a genetic form of obesity …

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