Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1858430 Death in infancy phenotype Finding 140
C0022107 Irritable Mood phenotype Behavior and Behavior Mechanisms Finding 139
C4552810 Irritability, CTCAE phenotype Finding 139
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
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117
C0576226 Short foot phenotype Finding 116
C1853237 Isolated cases phenotype Finding 111
C3665346 Unspecified visual loss phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 111
C0221369 Acquired Camptodactyly disease Acquired Abnormality 109
C1962966 Retinopathy, CTCAE phenotype Finding 108
C1963167 Memory Impairment, CTCAE 3.0 phenotype Finding 108
C4553765 Memory Impairment, CTCAE 5.0 phenotype Finding 108
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 106
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 103
C1963060 Agitation, CTCAE 3.0 phenotype Finding 87
C4552855 Agitation, CTCAE 5.0 phenotype Finding 87
C4553962 Hyperkeratosis, CTCAE phenotype Finding 87
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 83
C0271270 Oculovestibuloauditory syndrome disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 82
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
C1519353 Skin Papule phenotype Skin and Connective Tissue Diseases Finding 74
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 70
C3279947 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 disease Disease or Syndrome disease of anatomical entity 70