Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare
C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey
Abstract
will depend on if their pathological mechanisms interact (phenotype conversion) or not (phenotype maintenance). The hyper-rare disease concept will be important in precision medicine with improved diagnosis and treatment of rare disease patients.
Topics & Concepts
Rare speciesRare diseaseRare eventsRare gasRare earthMedicineComputer scienceComputational biologyBiologyPathologyChemistryMathematicsStatisticsPhysicsEcologyMineralogyDiseaseHabitatAtomic physicsGenomics and Rare DiseasesGenetic Associations and EpidemiologyCystic Fibrosis Research Advances