Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3711374 Nonsyndromic Deafness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 77
C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23
C1843181 Noonan syndrome-like disorder with loose anagen hair disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19
C3501846 Noonan-Like Syndrome With Loose Anagen Hair disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 19
C3501611 Mental Retardation, X-Linked Nonsyndromic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13
C0265325 Turcot syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 4
C4321324 Constitutional Mismatch Repair Deficiency Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 4
C0265253 Stickler syndrome (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 3
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 2
C3179349 Gastrointestinal Stromal Sarcoma disease Digestive System Diseases; Neoplasms Neoplastic Process 2
C3888631 Monogenic diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2
C0220711 Long chain acyl-CoA dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0265241 Franceschetti-Klein syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1
C0265265 Aase syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1
C0268531 Hydroxyprolinemia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1
C0268543 Hyperammonemia, type III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1
C0268563 Sarcosinemia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1
C0268601 HMG CoA lyase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0268621 Hepatic methionine adenosyltransferase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0272327 Hereditary factor X deficiency disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1
C0342738 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0342791 Carnitine-Acylcarnitine Translocase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0342793 Malonic aciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C0398621 Hypoplasminogenemia disease Hemic and Lymphatic Diseases Disease or Syndrome 1
C0398746 Gluthathione synthetase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1