Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483
C4553743 Spasticity, CTCAE phenotype Finding 476
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 472
C0013362 Dysarthria disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 470
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 459
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 446
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 446
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 432
C0042834 Vital capacity phenotype Clinical Attribute 430
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 420
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 401
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 397
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391
C0037369 Smoking phenotype Behavior and Behavior Mechanisms Individual Behavior disease of mental health 391
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 389