Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0399526 Class III malocclusion disease Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 144
C0040433 Tooth Crowding phenotype Stomatognathic Diseases Finding Abnormality of head or neck 74
C0856747 Aneurysm of ascending aorta phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 16
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 34
C0032326 Pneumothorax phenotype Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 30
C0019825 Hoarseness phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the voice 63
C0013405 Dyspnea, Paroxysmal disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system 15
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 167
C0231807 Dyspnea on exertion phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 90
C0019079 Hemoptysis phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 55
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 603
C0018777 Conductive hearing loss disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 275
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1258
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
C0026106 Mild Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 236
C0038525 Subarachnoid Hemorrhage disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 30
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 729
C0151888 Hyporeflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 308
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 326
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 156
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 231
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 154
C3665386 Abnormal vision phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 111