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
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 59
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C1836150 Gait imbalance phenotype Finding Abnormality of the nervous system 20 24
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 19 24
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 18 21
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C1836296 Muscle Weakness Lower Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 15 15
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 13 16
C2973725 Pulmonary arterial hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 13 60
C4021726 EMG: myopathic abnormalities phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function Abnormality of the musculature 13 16
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
C0018808 Heart murmur phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the cardiovascular system 11 10
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
C0039070 Syncope phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the cardiovascular system 8 12
C0231712 Waddling gait phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 8 8
C0241237 Difficulty standing phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the musculature 8 14
C1839630 Severe muscular hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 8 9
C4021765 Morphological abnormality of the central nervous system group Anatomical Abnormality Abnormality of the nervous system 8 7
C0234182 Gowers sign phenotype Finding Abnormality of the musculature 7 8