Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4014492 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 disease Disease or Syndrome disease of anatomical entity 1
C1857970 Hypobetalipoproteinemia, Familial, 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0523744 Lipids measurement group Laboratory Procedure 27
C1848529 Hypoplasia of the pons phenotype Finding Abnormality of the nervous system 30
C1611184 Calcification of coronary artery phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 51
C1858036 Periorbital fullness phenotype Finding Abnormality of head or neck 57
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 71
C0857379 Abnormality of the pinna phenotype Finding Abnormality of the ear 85
C1836543 Thick vermilion border phenotype Finding Abnormality of head or neck 95
C1853487 Thick eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 104
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 105
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 106
C3810365 Central visual impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the eye 115
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 125
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 133
C3828530 Platelet Component Distribution Width Measurement phenotype Laboratory Procedure 134
C0423113 Telecanthus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck 134
C0684276 Hypsarrhythmia phenotype Nervous System Diseases Finding Abnormality of the nervous system 146
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 182
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 235
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 266
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269
C0432072 Dysmorphic features disease Congenital Abnormality 335
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 351