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
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C4020949 Abnormal emotion/affect behavior phenotype Behavior and Behavior Mechanisms Pathologic Function Abnormality of the nervous system 3 13
C0266015 Congenital digestive system anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality Abnormality of the digestive system 2 5
C4540484 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 disease Disease or Syndrome genetic disease; disease of mental health 1 6