CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C4748993 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT disease Disease or Syndrome 1 7