Source: HPO

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
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
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
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 144
C1963094 Dry Skin, CTCAE phenotype Finding 137
C1853237 Isolated cases phenotype Finding 111
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 103
C0271561 Somatotropin deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 75
C0243026 Sepsis disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome disease by infectious agent 67
C0425957 Secondary amenorrhea phenotype Pathological Conditions, Signs and Symptoms Finding 49
C4551936 Anal Stenosis, CTCAE phenotype Finding 27
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 299
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 374
C0026034 Microstomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 167
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 135