Table 1

The number of phenotypes and the number of cases in each disease category

Disease categoriesPhenotypes (n)Cases (n)
MinimumMedianMeanMaximum
Circulatory system61221665293739 142
Congenital anomalies6206265302522
Dermatological diseases24201706273632 738
Diseases in sense organs34201425121611 306
Digestive diseases73201949217623 129
Neoplasms59203763191630 101
Infectious diseases162057879753192
Endocrine and metabolic diseases25229492230413 592
Haematopoietic diseases10205118716003669
Neurological diseases21229452128211 828
Respiratory diseases38219712171319 238
Mental disorders1820567319268942
Genitourinary diseases77200666160629 859
Pregnancy complications112273607072531
Musculoskeletal diseases442631076248221 822
Clinical symptoms142671237257012 287
Injuries and poisonings372115899114842