Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027868 Neuromuscular Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 11 38
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 11 19
C0234146 Absent reflex phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 11 16
C1837108 Decreased muscle mass phenotype Finding Abnormality of the musculature 11 12
C3887499 Renal cyst phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 11 11
C0018808 Heart murmur phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the cardiovascular system 11 10
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C1834481 CARDIOMYOPATHY, DILATED, 1S disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 9 41
C0241237 Difficulty standing phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the musculature 8 14
C0039070 Syncope phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the cardiovascular system 8 12
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8 9
C1839630 Severe muscular hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 8 9
C0231712 Waddling gait phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 8 8
C4021765 Morphological abnormality of the central nervous system group Anatomical Abnormality Abnormality of the nervous system 8 7
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
C0234182 Gowers sign phenotype Finding Abnormality of the musculature 7 8
C3277226 Restrictive ventilatory defect phenotype Finding Abnormality of the respiratory system 7 8
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
C0030252 Palpitations phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 6 7
C0079352 Congenital torticollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the musculature 6 6
C0175709 Centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 4 12
C0235063 Respiratory Depression phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 4 5
C0558845 Reflex, Ankle, Absent phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 4 5
C1839832 Noncompaction cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 5
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 4