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
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 59
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
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
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
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
C1836150 Gait imbalance phenotype Finding Abnormality of the nervous system 20 24
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 19 24
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 18 21
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C1836296 Muscle Weakness Lower Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 15 15
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
C2973725 Pulmonary arterial hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 13 60
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 13 16
C4021726 EMG: myopathic abnormalities phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function Abnormality of the musculature 13 16
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
C0699743 Congenital muscular dystrophy (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 12 14