Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 89
C0018800 Cardiomegaly phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 85
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 83
C0220981 Metabolic acidosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of metabolism/homeostasis 78
C0006625 Cachexia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Growth abnormality 75
C0009952 Febrile Convulsions disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 74
C0009421 Comatose phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 70
C0232744 Decreased liver function phenotype Finding Abnormality of the digestive system 59
C0220994 Hyperammonemia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 47
C0022638 Ketosis disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 36
C1850830 Exercise-induced myalgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Constitutional symptom 32
C0523677 Glycine measurement phenotype Laboratory Procedure 32
C4073168 Abnormal lactate dehydrogenase activity phenotype Finding Abnormality of metabolism/homeostasis 19
C0006114 Cerebral Edema phenotype Nervous System Diseases Pathologic Function disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the nervous system 18
C0265213 Distal arthrogryposis syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 18
C1142132 Carnitine deficiency phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 15
C4022584 Fatigable weakness of neck muscles phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 13
C0543541 HYPERGLYCINURIA (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 13
C0041657 Unconscious State phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 11
C1856432 Dicarboxylic aciduria phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 8
C4023117 Decreased plasma total carnitine phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 2
C3554691 HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES disease Disease or Syndrome disease of anatomical entity 2
C4022414 Elevated urinary 3-hydroxybutyric acid phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
C1860081 Medium chain dicarboxylic aciduria phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
C0220710 Medium-chain acyl-coenzyme A dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism; syndrome 1