Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1846647 DEAFNESS, AUTOSOMAL RECESSIVE (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C2748542 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C4551804 Brugada Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0796250 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of mental health 6
C0393706 Early infantile epileptic encephalopathy with suppression bursts disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5
C1568247 Usher Syndrome, Type I disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 5
C1848638 USHER SYNDROME, TYPE IB (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 5
C1848639 USHER SYNDROME, TYPE IA, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C3463992 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 4
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
C0265234 Branchio-Oto-Renal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 3
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
C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3
C0270972 Cornelia De Lange Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 3
C0345893 Juvenile polyposis syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 3
C0452138 Sensorineural hearing loss, bilateral disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the ear 3
C1832940 JUVENILE POLYPOSIS OF STOMACH disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease 3
C1852282 DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3
C1868081 Juvenile Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease 3
C4552100 Lynch Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 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