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
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 27 34
C0240421 Progressive muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 12 15
C1865916 Bilateral ptosis phenotype Eye Diseases Finding Abnormality of the eye 11 14
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 10 12
C0522055 Electrocardiogram abnormal phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 5 54
C0751401 Ophthalmoparesis phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the eye 2 2
C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 35
C3275417 Ragged-red muscle fibers phenotype Finding Abnormality of the musculature 1 1