gargoylism

• 黏多糖贮积症I型，一种常染色体隐性遗传的代谢性疾病，因黏多糖代谢障碍导致骨骼软骨和骨骼严重发育异常及智力障碍。

A noun referring to a hereditary metabolic disorder, specifically an autosomal recessive disease involving an error in mucopolysaccharide metabolism, leading to severe abnormalities in skeletal cartilage and bone development as well as mental retardation.

不可数

1. Hereditary metabolic disorderC2formalmedical

   A rare autosomal recessive disease caused by an error in mucopolysaccharide metabolism, leading to severe skeletal, cartilage, and bone abnormalities, as well as mental retardation.

   遗传性代谢障碍

   • Gargoylism is characterized by distinctive facial features and skeletal deformities.
   • The diagnosis of gargoylism was confirmed through genetic testing.
   • Treatment for gargoylism focuses on managing symptoms and improving quality of life.

   同义词lipochondrodystrophy