| umls-concept:C0010324 | skos:definition | MSH: A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.,NCI: A rare autosomal recessive inherited syndrome characterized by abnormalities in the metabolism of bilirubin. It results in the development of jaundice. It may cause brain damage in infancy. | lld:umls |
