Mapping Orphanet Terminology to UMLS. - Maja Milicic Brandt; Ana Rath; Andrew Devereau; Ségolène Aymé (AIME, 2011)

VarioML framework for comprehensive variation data representation and exchange. - Myles Byrne; Ivo F. A. C. Fokkema; Owen Lancaster; Tomasz Adamusiak; Anni Ahonen-Bishopp; David Atlan; Christophe Béroud; Michael Cornell; Raymond Dalgleish; Andrew Devereau; George P. Patrinos; Morris A. Swertz; et al. (BMC Bioinform., 2012)

The Human Phenotype Ontology in 2017. - Sebastian Köhler 001; Nicole A. Vasilevsky; Mark Engelstad; Erin Foster; Julie A. McMurry; Ségolène Aymé; Gareth Baynam; Susan M. Bello; Cornelius F. Boerkoel; Kym M. Boycott; Michael Brudno; Orion J. Buske; et al. (Nucleic Acids Res., 2017)