ABCD 综合征
关键字(英)
Albinism,Deafness,Hirschsprung disease
别名(英)
Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness
别名
白化病、黑锁病、肠道神经细胞的细胞迁移障碍和耳聋
统计
reviewed:1; annotated:0
交叉引用
600501,C1838099,C3179507,D014849
描述(英)
An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.
描述
一种常染色体隐性遗传综合征，其特征是白化病、颞枕区黑锁、双侧耳聋、大肠神经节细胞增生症和小肠神经细胞和神经纤维完全缺失。