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
C1849265 Overgrowth phenotype Finding Growth abnormality 81 93
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 29 468
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 332
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 18 21
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16 245
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C1960469 Left ventricular noncompaction disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8 19
C3495498 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 7 93
C0039231 Tachycardia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7 8
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 5 6
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4 26
C1839832 Noncompaction cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 5
C0011071 Sudden death phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 4 3
C0151636 Premature ventricular contractions phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C1861862 Familial Hypertrophic Cardiomyopathy Type 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 3 96
C1963282 Wolff-Parkinson-White Syndrome, CTCAE phenotype Finding 2 2
C3715165 LEFT VENTRICULAR NONCOMPACTION 10 disease Disease or Syndrome 1 18
C0018794 Heart Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1 1
C0205700 Asymmetric Septal Hypertrophy disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1 1
C0264886 Conduction disorder of the heart group Cardiovascular Diseases Disease or Syndrome 1 1
C2751427 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO disease Finding disease of anatomical entity 1 1