CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0028754 Obesity disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of metabolism Growth abnormality 1960 811
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 1671 1522
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1063 636
C1858120 Generalized hypotonia phenotype Finding Abnormality of the musculature 632 17
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 479 108
C0700208 Acquired scoliosis phenotype Acquired Abnormality Abnormality of the skeletal system 417 8
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 413 15
C0037932 Curvature of spine phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 407 11
C0019209 Hepatomegaly phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system 372 0
C0027708 Nephroblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 370 33
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the eye 367 9
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome disease of metabolism 333 84
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 332 4
C1839764 Broad flat nasal bridge phenotype Finding Abnormality of head or neck 329 0
C0271650 Impaired glucose tolerance phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 325 55
C0175754 Agenesis of corpus callosum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality Abnormality of the nervous system 316 19
C1384666 hearing impairment phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity Abnormality of the ear 293 1
C0339789 Congenital deafness disease Congenital Abnormality disease of anatomical entity Abnormality of the ear 288 7
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 282 4
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 276 3
C3550546 Depressed nasal root/bridge phenotype Finding Abnormality of head or neck 274 0
C4280495 Concave bridge of nose phenotype Finding Abnormality of head or neck 274 0
C2981150 Uranostaphyloschisis disease Congenital Abnormality physical disorder Abnormality of head or neck 273 7
C0011053 Deafness phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Finding disease of anatomical entity Abnormality of the ear 272 1
C0018772 Hearing Loss, Partial phenotype Finding Abnormality of the ear 259 39