Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 30 42
C0024003 Lordosis phenotype Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 9 15
C4021815 Abnormal palate morphology disease Finding Abnormality of head or neck 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
C4023289 Transitional atrioventricular canal defect disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 1 1
C0030590 Paroxysmal supraventricular tachycardia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1 1
C1858154 CARDIOMYOPATHY, DILATED, 1I disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C0023211 Left Bundle-Branch Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1 1