Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0497156 Lymphadenopathy phenotype Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the cardiovascular system 152
C0399526 Class III malocclusion disease Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 144
C0022346 Icterus phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Abnormality of the integument 140
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 135
C0085633 Mood swings disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 130
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 128
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 120
C1842876 Depressed nasal ridge phenotype Finding Abnormality of head or neck 116
C0018965 Hematuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 113
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 109
C0234985 Mental deterioration phenotype Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 105
C0025995 Micromelia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 102
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 101
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 99
C0231807 Dyspnea on exertion phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 90
C0024636 Malocclusion disease Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 89
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C0085631 Agitation phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 87
C0239479 Round face phenotype Finding Abnormality of head or neck 87
C1963060 Agitation, CTCAE 3.0 phenotype Finding 87
C4552855 Agitation, CTCAE 5.0 phenotype Finding 87
C0240379 Open mouth (finding) phenotype Finding Abnormality of head or neck 86
C0003962 Ascites phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 82
C0008031 Chest Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 81
C0014591 Epistaxis phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 81