Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 103 131
C0431399 Familial aplasia of the vermis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the nervous system 26 175
C4551568 Joubert syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 7 27
C0022346 Icterus phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Abnormality of the integument 7 10
C3553264 JOUBERT SYNDROME 17 disease Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 1 65
C2745997 OROFACIODIGITAL SYNDROME VI disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 1 27