Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test phenotype Laboratory Procedure 13
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13
C0270984 Metabolic myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2
C3887523 Very long chain acyl-CoA dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of metabolism 1