Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0026106 Mild Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 39 48
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
C0037317 Sleep disturbances phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 37 41
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 30 42
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 23 42
C0026850 Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the musculature 21 48
C0311394 Difficulty walking phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system; Abnormality of the musculature 20 30
C0855329 Electrocardiogram change phenotype Finding 18 27
C3887485 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 phenotype Finding disease of anatomical entity 17 19
C4021726 EMG: myopathic abnormalities phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function Abnormality of the musculature 13 16
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
C0409338 Flexion contracture - elbow disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 10 14
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 10 12
C0241237 Difficulty standing phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the musculature 8 14
C0030554 Paresthesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 8 8
C0240914 Romberg's sign positive phenotype Finding Abnormality of the nervous system 4 6
C0558845 Reflex, Ankle, Absent phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 4 5
C4021727 EMG: neuropathic changes phenotype Finding Abnormality of the musculature 4 5
C0427063 Shoulder girdle weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 4 4
C0158113 Contracture of joint of hand disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 3 5
C1389113 Generalized amyotrophy disease Disease or Syndrome Abnormality of the musculature 3 4
C1836767 Proximal lower limb amyotrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 3 4
C1866010 Proximal muscle weakness in lower limbs phenotype Finding Abnormality of limbs; Abnormality of the musculature 3 4
C1858127 Limb-girdle muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 3 3