Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 23 42
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 9 12
C0234182 Gowers sign phenotype Finding Abnormality of the musculature 7 8
C1836156 Progressive proximal muscle weakness phenotype Finding Abnormality of the musculature 4 3
C1855580 Exercise-induced muscle fatigue phenotype Finding Abnormality of the musculature 3 3
C1866010 Proximal muscle weakness in lower limbs phenotype Finding Abnormality of limbs; Abnormality of the musculature 3 4
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 2 5
C1855579 Exercise-induced muscle stiffness phenotype Finding Abnormality of the musculature 1 1
C4016476 DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE disease Finding 1 1
C4016477 INTERMEDIATE MUSCULAR DYSTROPHY disease Finding 1 1
C4022648 Abnormal muscle fiber dystrophin expression phenotype Anatomical Abnormality Abnormality of the musculature 1 1
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
C3668940 Dmd-Associated Dilated Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 164
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
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35
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
C0013264 Muscular Dystrophy, Duchenne disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 151
C0917713 Becker Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 28
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
C0015300 Exophthalmos disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 7 10
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 27 34