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
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
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
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 21 23
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 17 19
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C0239676 High forehead phenotype Finding Abnormality of head or neck 14 17
C0423113 Telecanthus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck 14 14
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C1384670 Single umbilical artery disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of prenatal development or birth; Abnormality of the cardiovascular system 5 5
C0558165 Curly hair (finding) phenotype Finding Abnormality of the integument 4 7
C0348872 Disorders of both mitral and tricuspid valves disease Disease or Syndrome 1 1
C1383860 Cardiac Hypertrophy phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 1 1
C4020951 Pointed helix phenotype Anatomical Abnormality Abnormality of the ear 1 1
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85