CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 955 164
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 925 294
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 850 135
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 783 111
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 740 337
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 725 80
C0175754 Agenesis 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 615 45
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 611 158
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12
C0271650 Impaired glucose tolerance phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 596 81
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590 77
C0027708 Nephroblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 586 125
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 559 111
C0019209 Hepatomegaly phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding Abnormality of the digestive system 523 30
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 510 56
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 473 37
C0206624 Hepatoblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 452 22
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429 29
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 426 87
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426 39
C0020615 Hypoglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism; disease of anatomical entity Abnormality of metabolism/homeostasis 420 42
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 417 30