Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 887
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 432
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 237
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 212
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 196
C0023380 Lethargy phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 140
C0027947 Neutropenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 118
C0231835 Tachypnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding Abnormality of the respiratory system 79
C1855119 Methylmalonic aciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 15
C0268583 Methylmalonic acidemia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 13
C3806347 Hyperhomocystinemia phenotype Finding Abnormality of metabolism/homeostasis 10
C0019880 Homocystinuria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 9
C1848556 Decreased adenosylcobalamin phenotype Finding Abnormality of metabolism/homeostasis 7
C0231471 Abnormal posture phenotype Nervous System Diseases Finding Abnormality of the nervous system 6