Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4551804 Brugada Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular 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
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
C1399226 Ectopic rhythm phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0264893 Nodal rhythm disorder phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0348626 Other specified cardiac arrhythmias phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0428908 Sinus Node Dysfunction (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0154860 Hereditary retinal dystrophy group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 7
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
C3463992 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 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
C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C1848639 USHER SYNDROME, TYPE IA, FORMERLY disease 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
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5
C4321324 Constitutional Mismatch Repair Deficiency Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 4
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
C0265234 Branchio-Oto-Renal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 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
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
C1832940 JUVENILE POLYPOSIS OF STOMACH disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease 3
C0345893 Juvenile polyposis syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 3