Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0205682 Waist-Hip Ratio phenotype Organism Attribute 565
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 556
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 536
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 496
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 491
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
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