Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563
C4553743 Spasticity, CTCAE phenotype Finding 476
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
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
C1387005 Penis agenesis disease Male Urogenital Diseases Congenital Abnormality 205
C0024523 Malabsorption Syndrome group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 175
C1963165 Malabsorption, CTCAE phenotype Finding 175
C0302511 Small for gestational age fetus phenotype Pathological Conditions, Signs and Symptoms Finding 156
C1858430 Death in infancy phenotype Finding 146
C1963094 Dry Skin, CTCAE phenotype Finding 137
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0027947 Neutropenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 118
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 118
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 117
C1962966 Retinopathy, CTCAE phenotype Finding 108
C4553962 Hyperkeratosis, CTCAE phenotype Finding 87
C1843392 Death in childhood phenotype Finding 25
C0152233 Congenital ankyloblepharon disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 14
C0423813 Splits in nails (finding) phenotype Sign or Symptom 8