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
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C0026351 Moderate intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 74 93
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 37 43
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 30 32
C0022680 Polycystic Kidney Diseases group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the genitourinary system 21 52
C0431447 Synophrys disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 19 23
C0039685 Tetralogy of Fallot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 18 28
C1868571 Highly arched eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 15 14
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17
C1855728 Low posterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 10 11
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9 24
C0003466 Anus, Imperforate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the digestive system 9 8
C1857042 Sparse scalp hair phenotype Finding Abnormality of the integument; Abnormality of head or neck 7 7