Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 11 16
C0234182 Gowers sign phenotype Finding Abnormality of the musculature 7 8
C0235063 Respiratory Depression phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 4 5
C0241237 Difficulty standing phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the musculature 8 14
C0281788 Biventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 3 2
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C0340477 Re-entrant atrioventricular tachycardia disease Disease or Syndrome Abnormality of the cardiovascular system 2 2
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C0427063 Shoulder girdle weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 4 4
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 13 16
C0428974 Supraventricular arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0558845 Reflex, Ankle, Absent phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 4 5
C0686353 Muscular Dystrophies, Limb-Girdle group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of limbs; Abnormality of the musculature 7 7
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
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 3 4
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 19 24
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
C1321329 Slowed saccades phenotype Finding Abnormality of the eye 3 4
C1698196 Muscle Weakness Upper Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 3 3
C1834481 CARDIOMYOPATHY, DILATED, 1S disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 9 41
C1836118 LEFT VENTRICULAR NONCOMPACTION 2 disease Disease or Syndrome 2 1
C1836150 Gait imbalance phenotype Finding Abnormality of the nervous system 20 24
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
C1836767 Proximal lower limb amyotrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 3 4