Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4016640 TANGIER DISEASE, VARIANT phenotype Finding 1 1
C0751544 Tangier Disease Neuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 0
C4280753 Orange discoloured tonsils phenotype Finding Abnormality of the immune system; Abnormality of the cardiovascular system 1 0
C0155196 Cicatricial ectropion disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 2 0
C0342898 Apolipoprotein A-I deficiency phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Pathologic Function 2 0
C1858114 HUNTINGTON DISEASE-LIKE 3 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0
C3165209 High density lipoprotein deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2 0
C3642304 Placental Malformation disease Disease or Syndrome 2 0
C0008384 Cholesterol Ester Storage Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3 5
C3711531 Hdl Deficiency, Type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 1
C4024968 Impaired thermal sensitivity phenotype Finding Abnormality of metabolism/homeostasis 3 0
C4524373 Hamster Melanoma disease Neoplastic Process 3 0
C1859178 Progressive peripheral neuropathy phenotype Finding Abnormality of the nervous system 5 0
C1849618 Accelerated atherosclerosis phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7 0
C4021222 Impaired temperature sensation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 8 0
C0268243 Niemann-Pick Disease, Type B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of metabolism 9 57
C0023195 Lecithin Acyltransferase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 9 22
C1843366 NIEMANN-PICK DISEASE, TYPE C2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of metabolism 9 22
C2931838 Familial HDL deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 1
C0342907 Sitosterolemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality genetic disease; disease of anatomical entity 11 20
C0151691 Decreased HDL cholesterol concentration phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis 12 2
C1858970 Chronic noninfectious lymphadenopathy phenotype Hemic and Lymphatic Diseases Finding Abnormality of the immune system; Abnormality of the cardiovascular system 12 0
C1842090 Platelet Glycoprotein IV Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 14 12
C0747820 Malaria, antepartum disease Disease or Syndrome 15 0
C1704429 Hypoalphalipoproteinemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 18 6