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
C4553743 Spasticity, CTCAE phenotype Finding 476
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C0520947 Clumsiness - motor delay disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome disease of mental health 363
C1861403 Variable expressivity phenotype Finding 319
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 242
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
C1845977 X- linked recessive phenotype Finding 172
C0700201 Dyssomnias disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167
C0851578 Sleep Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167
C1854494 Slow progression phenotype Finding 165
C0302511 Small for gestational age fetus phenotype Pathological Conditions, Signs and Symptoms Finding 156
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 144