Hypochondroplasia (HCH)

Hypochondroplasia(来自ICD-11)
别称:
Hch
Hypochondroplastic Short Stature
Hypochondroplastic Dwarfism
Chondrogenesis Imperfecta
Hypochondrodysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypochondroplasia, also known as hch, is related to achondrogenesis, type ii and crouzon syndrome with acanthosis nigricans. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone and temporal lobe, and related phenotypes are skeletal dysplasia and abnormal form of the vertebral bodies
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相关ID:
MESH:C562937
ICD11:1930265486

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AD
Antenatal
1-9/100000
16
266
85

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靶点药物

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MGI
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