Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

Alias:
Short Rib-Polydactyly Syndrome Type 1
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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
短肢-多指综合症, Saldino-Noonan 型, 也被称为短肢-多指综合症1型, 与多指和短肢-多指综合症有关。与短肢-多指综合症, Saldino-Noonan 型相关的基因是 DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), 其相关通路/超级通路包括细胞器生物发生和维护和纤毛景观。附属组织包括骨和肾。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
47
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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