Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4747922 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES disease Disease or Syndrome 1
C4747737 RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4721769 Citrullinemia Type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 23
C4693974 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC disease Disease or Syndrome genetic disease; disease of metabolism 1
C4693498 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS disease Disease or Syndrome 1
C4554406 FANCONI ANEMIA, COMPLEMENTATION GROUP S disease Disease or Syndrome 1
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
C4552072 X-linked infantile spasms disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5
C4551981 Familial Multiple Coagulation Factor Deficiency I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1
C4551966 GLUT1 DEFICIENCY SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C4551859 RUBINSTEIN-TAYBI SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1
C4551804 Brugada Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C4520892 Otospondylomegaepiphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1
C4518338 Wolfram-like syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1
C4510276 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C4321324 Constitutional Mismatch Repair Deficiency Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 4
C4321247 Mitochondrial DNA Depletion Syndrome 12 disease Disease or Syndrome genetic disease; disease of metabolism 1
C4310822 LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY disease Disease or Syndrome 1
C4310775 DEAFNESS, AUTOSOMAL DOMINANT 70 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4310719 FAMILIAL ADENOMATOUS POLYPOSIS 4 disease Disease or Syndrome genetic disease 1
C4310714 SESSILE SERRATED POLYPOSIS CANCER SYNDROME disease Neoplastic Process 1
C4310657 CONE-ROD DYSTROPHY AND HEARING LOSS disease Disease or Syndrome 1
C4310645 MYOPATHY, MYOFIBRILLAR, 8 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4310631 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS disease Disease or Syndrome 1