Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1384666 hearing impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 551
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
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
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
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
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 351
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 340
C0432072 Dysmorphic features disease Congenital Abnormality 335
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 325
C0221354 Frontal bossing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 320
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 318
C3806482 Recurrent respiratory infections phenotype Infections; Respiratory Tract Diseases Finding Abnormality of the immune system; Abnormality of the respiratory system 318
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 308
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 307
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 295