How many rare diseases are there?

Nature Reviews Drug Discovery

Volumn 19, Issue 2, 2020, Pages 77-78

  Haendel, Melissa ^a   Vasilevsky, Nicole ^a   Unni, Deepak ^a   Bologa, Cristian ^a   Harris, Nomi ^a   Rehm, Heidi ^a   Hamosh, Ada ^a   Baynam, Gareth ^a   Groza, Tudor ^a   McMurry, Julie ^a   Dawkins, Hugh ^a   Rath, Ana ^a   Thaxon, Courtney ^a   Bocci, Giovanni ^a   Joachimiak, Marcin P ^a   Köhler, Sebastian ^a   Robinson, Peter N ^a   Mungall, Chris ^a   Oprea, Tudor I ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

1983 ORPHAN DRUG ACT; ACT; ANGIOOSTEOHYPERTROPHY SYNDROME; DATA CONSISTENCY; FALLOT TETRALOGY; FUNDING; GENE; GENETIC VARIABILITY; HUMAN; INCIDENCE; MEDICAL TERMINOLOGY; MEGALENCEPHALY CAPILLARY MALFORMATION SYNDROME; NOTE; PATIENT ADVOCACY; PIK3CA GENE; PRIORITY JOURNAL; RARE DISEASE; TAY SACHS DISEASE; TUBERCULOSIS; WORLD HEALTH ORGANIZATION; CLASSIFICATION; PHENOTYPE;

HUMANS; PHENOTYPE; RARE DISEASES;

EID: 85076836740     PISSN: 14741776     EISSN: 14741784     Source Type: Journal    
DOI: 10.1038/d41573-019-00180-y     Document Type: Note

References (5)

1. Haendel, M. A., Chute, C. G. & Robinson, P. N. Classification, ontology, and precision medicine. N. Engl. J. Med. 379, 1452–1462 (2018).
2. Haendel, M. A. et al. A census of disease ontologies. Annu. Rev. Biomed. Data Sci. 1, 305–331 (2018).
3. Oprea, T. I. et al. Unexplored therapeutic opportunities in the human genome. Nat. Rev. Drug Discov. 17, 317-332 (2018).
4. Mungall, C. J. et al. k-BOOM: a Bayesian approach to ontology structure inference, with applications in disease ontology construction. bioRxiv 048843; doi: https://doi.org/10.1101/048843 (2019).
5. Tambuyzer, E. et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat. Rev. Drug Discov. 19, 93–111 (2020).