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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Hypothyroidism, Congenital, Nongoitrous, 8 (CHNG8)
Alias:
Chng8
Hypothyroidism, Congenital, Nongoitrous, Type 8
Hypothyroidism, Congenital, Non-Goitrous, 8
Congenital Nongoitrous Hypothyroidism 8
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
甲状腺功能减退症,先天性,非胶质性,8型,也被称为chn8。与甲状腺功能减退症,先天性,非胶质性,8型相关的基因是TBL1X(视网膜神经节细胞β样1X连锁)。相关组织包括甲状腺和下丘脑,相关表型为循环游离T4浓度降低和巨脑。
Related ID:
MALACARDS:HYP857
OMIM:301033
MESH:D003409
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
X显
X染色体
X隐
未知
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HYP857
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