丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。
Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .
常染色体隐性遗传性多囊肾又称婴儿型多囊肾，为多囊肾中少见类型。
Autosomal recessive polycystic kidney disease also known as infantile polycystic kidney disease, polycystic kidney in the rare type.
结果：①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
遗传性嗜中性白血球减少症是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
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