Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 470
C0013604 Edema phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of metabolism/homeostasis 92
C0014457 Eosinophilia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 45
C0014850 Esophageal Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 24
C0015469 Facial paralysis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 165
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 432
C0015967 Fever phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of metabolism/homeostasis 239
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 282
C0017168 Gastroesophageal reflux disease disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 281
C0018418 Gynecomastia disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the breast 90
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 622
C0018816 Heart Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 52
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
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
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 472
C0020224 Polyhydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 207
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 297
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
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590
C0020598 Hypocalcemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 55
C0020619 Hypogonadism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 220
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 307