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
C0023264 Leigh Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C1838951 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C1850597 Leigh Syndrome Due To Mitochondrial Complex II Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C1850598 Leigh Syndrome due to Mitochondrial Complex III Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C1850600 Leigh Syndrome due to Mitochondrial Complex V Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C2931891 Necrotizing encephalopathy, infantile subacute, of Leigh disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 31
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24
C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 23
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 23
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 21
C1333990 Hereditary Nonpolyposis Colorectal Cancer disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 21
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 20
C1142166 Brugada Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 20
C0175704 LEOPARD Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 19
C0587248 Costello syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 19
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 19
C1333991 Hereditary Non-Polyposis Colon Cancer Type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease 19
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
C2936783 Colorectal cancer, hereditary nonpolyposis, type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 18
C3501611 Mental Retardation, X-Linked Nonsyndromic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13
C0428908 Sinus Node Dysfunction (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11