Engelsk navneord: Hurler's syndrome | |||
1. | Hurler's syndrome (om tilstand) hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation | ||
Termer med samme betydning (synonymer) | dysostosis multiplex, gargoylism, Hurler's disease, lipochondrodystrophy | ||
Mindre specifikke termer | monogenic disease, monogenic disorder, mucopolysaccharidosis | ||