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
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43 49
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 78
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 26 31
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1842364 Central hypotonia phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 23 25
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 21 23
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 19 21