Chromosome 2q35 Duplication Syndrome (SD1)

Chromosome 2q35 Duplication Syndrome(来自ICD-11)
别称:
Syndactyly
Syndactyly Type 1
Syndactyly, Type 1, with or Without Craniosynostosis
Syndactyly, Type I
Sdty1
Syndactyly, Type 1
Webbing of Digits
Symphalangism
Zygodactyly
Symphalangy
Sd1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 2q35 Duplication Syndrome, also known as syndactyly, is related to syndactyly, type iii and syndactyly, type iv. An important gene associated with Chromosome 2q35 Duplication Syndrome is CUP2Q35 (Syndactyly, Type I), and among its related pathways/superpathways are Endochondral ossification with skeletal dysplasias and Head and neck squamous cell carcinoma. The drugs Clonidine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are finger syndactyly and toe syndactyly
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相关ID:
MESH:D013576
ICD11:1736296640

基础信息

遗传方式
发病时间
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参考文献
MALACARDS
AD
Unknown
1-5/10000
115
1238
16

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