Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 21
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
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0011436 Dentinogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 1
C0015306 Hereditary Multiple Exostoses disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity Neoplasm; Abnormality of the skeletal system 1
C0266526 Norrie disease disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality genetic disease 1
C0268140 Xeroderma pigmentosum, group F disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease 1
C0410203 X-linked centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity 1
C4277690 Ciliopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1
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
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
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
C1843181 Noonan syndrome-like disorder with loose anagen hair disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19