Purpose: It has been argued that rare diseases should be recognized as a public health
priority. However, there is a shortage of epidemiological data describing the true burden of …

Genotype–phenotype databases provide information about genetic variation, its
consequences and its mechanisms of action for research and health care purposes. Existing …

Dental anomalies occur frequently in a number of genetic disorders and act as major signs
in diagnosing these disorders. We present definitions of the most common dental signs and …

An increasing number of genes are being described in the context of non-syndromic male
infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical …

Federated learning initiatives in healthcare are being developed to collaboratively train
predictive models without the need to centralize sensitive personal data. GenoMed4All is …

Highlights•Rare diseases collectively impact a large portion of the world's
population.•Advances in technology are allowing a better understanding of rare …

Abstract The International Mouse Phenotyping Consortium (IMPC) continues to expand the
catalogue of mammalian gene function by conducting genome and phenome-wide …

Rare diseases pose a global challenge, in that their collective impact on health systems is
considerable, whereas their individually rare occurrence impedes research and …

Abstract Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic
settings to aid in the characterization of patient phenotypes. The HPO annotation database …

Background Evidence-based clinical practice is challenging in all fields, but poses special
barriers in the field of rare diseases. The present paper summarises the main barriers faced …