Isolated Growth Hormone Deficiency, Type Ii (IGHD2)

Alias:

Isolated Growth Hormone Deficiency Type Ii

Ighd Ii

Congenital Isolated Growth Hormone Deficiency Type Ii

Growth Hormone Deficiency, Isolated, Type Ii

Congenital Isolated Gh Deficiency Type Ii

Congenital Ighd Type Ii

Ighd2

Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant

Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency

Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant

Growth Hormone Deficiency, Isolated, Autosomal Dominant

Autosomal Dominant Isolated Growth Hormone Deficiency

Growth Hormone Deficiency Isolated Autosomal Dominant

Autosomal Dominant Isolated Somatotropin Deficiency

Growth Hormone Deficiency, Isolated, 2

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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

孤立性生长激素缺乏症，II型，也称为孤立性生长激素缺乏症，II型，与孤立性生长激素缺乏症和生长激素缺乏症有关。与孤立性生长激素缺乏症，II型相关的重要基因是GH1（生长激素1），其相关通路/超级通路包括软骨内成骨和骨骼发育不良以及激素控制青春期生长激增。附属组织包括垂体和B细胞，相关表型包括脊柱侧凸和严重矮小。

Related ID：

MALACARDS：ISL114

OMIM：173100

MESH：C562704