Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 308
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C0017601 Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 286
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 284
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0026106 Mild Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 269
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 266
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 259
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 252
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 252
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 250
C1262477 Weight decreased phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 250
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C0015967 Fever phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of metabolism/homeostasis 239
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 238
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 232
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 231
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 208
C0020295 Hydronephrosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 184
C0020608 Hypodontia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 184
C1836047 Long face phenotype Finding Abnormality of head or neck 182
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 180
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 176