Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3279422 Prominent incisors phenotype Finding 1 4
C4015495 CEREBELLOFACIODENTAL SYNDROME disease Disease or Syndrome 1 4
C0266039 Taurodontism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 5 9
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0266470 Cerebellar Hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality Abnormality of the nervous system 18 23
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0349588 Short stature phenotype Finding Growth abnormality 190 292