Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0004239 Atrial Flutter phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 2 2
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 18 21
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8 9
C0018808 Heart murmur phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the cardiovascular system 11 10
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
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 4
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
C0026850 Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the musculature 21 48
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0027868 Neuromuscular Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 11 38
C0030252 Palpitations phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 6 7
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0039070 Syncope phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the cardiovascular system 8 12
C0043202 Wolff-Parkinson-White Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; syndrome Abnormality of the cardiovascular system 14 16
C0079352 Congenital torticollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the musculature 6 6
C0085612 Ventricular arrhythmia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0151517 Complete atrioventricular block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0151636 Premature ventricular contractions phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0175709 Centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 4 12
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 11 19
C0231712 Waddling gait phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 8 8