Genetic diseases: do Diseases Database items correspond to an allele, gene or phenotype?
There is no fixed rule to apply here – and this can create an issue when “mapping” to external resources. It’s impossible to draft a consistent editorial policy to cover ‘Significant’ clinical phenotypes We have ‘lumped’ Ehlers-Danlos syndrome but split Xeroderma pigmentosum And with Spinocerebellar ataxia. Finally there is the rapid advance of knowledge to content with. Diseases which were thought to be genetically homogeneous often fragment. Entities thought to be distinct nosological entities ‘merge’. There is no way we can keep abreast with all such changes – although we do (I believe) do no worse in this regard than some well established coding systems and rather better than some others.
