Geleophysic Dysplasia

Geleophysic Dysplasia(来自ICD-11)
别称:
Geleophysic Dwarfism
Gphysd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to geleophysic dysplasia 2 and geleophysic dysplasia 3. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include bone and heart, and related phenotypes are limbs/digits/tail and craniofacial
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
AD
Child
<1/1000000
30
246
51

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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