Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C1510460 Orofaciodigital Syndrome I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; syndrome 1 108
C2749019 JOUBERT SYNDROME 10 (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 1 7
C1846175 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 1 2