CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1858424 Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 2 7
C1837148 MYOPIA 6 (disorder) disease Eye Diseases Disease or Syndrome disease of anatomical entity 2 2
C4551995 Mitochondrial DNA Depletion Syndrome 1 disease Disease or Syndrome genetic disease; disease of metabolism 4 78
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417