Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 464
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 320
C0011991 Diarrhea phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 200
C0022346 Icterus phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Abnormality of the integument 140
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106
C0033774 Pruritus phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 99
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 56
C0151849 Alkaline phosphatase raised phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 54
C1314665 Serum alkaline phosphatase raised phenotype Finding Abnormality of metabolism/homeostasis 54
C0008350 Cholelithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 52
C1843392 Death in childhood phenotype Finding 22
C0268307 Conjugated hyperbilirubinemia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of metabolism/homeostasis 19
C0008372 Intrahepatic Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 12
C0554103 Intestinal malabsorption of fat phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function Abnormality of the digestive system 5
C4025805 Intermittent jaundice phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the digestive system; Abnormality of the integument 3