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
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C4021726 EMG: myopathic abnormalities phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function Abnormality of the musculature 13 16
C1855580 Exercise-induced muscle fatigue phenotype Finding Abnormality of the musculature 3 3
C1850830 Exercise-induced myalgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Constitutional symptom 3 3
C1855578 Exercise-induced muscle cramps phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 1 1
C4021526 Exercise-induced rhabdomyolysis phenotype Musculoskeletal Diseases Finding Abnormality of the musculature 1 1
C1855579 Exercise-induced muscle stiffness phenotype Finding Abnormality of the musculature 1 1