Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 236
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 231
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
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 219
C1306503 Congenital exomphalos disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; physical disorder 216
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 212
C0039273 Talipes cavus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 212
C0239676 High forehead phenotype Finding Abnormality of head or neck 205
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 203
C0015300 Exophthalmos disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 196
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
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 195
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 190
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 187
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 185
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 179
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 178
C1836047 Long face phenotype Finding Abnormality of head or neck 175
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 175
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 167
C0026034 Microstomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 167
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 164
C0409348 Flexion contracture of proximal interphalangeal joint phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 164
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 164
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 159