Bardet-Biedl Syndrome 1 (BBS1)

Bardet-Biedl Syndrome 1(来自ICD-11)
别称:
Bbs1
Bardet-Biedl Syndrome 1, Modifier of
Bardet-Biedl Syndrome, Type 1
Bardet-Biedl Syndrome
Laurence-Moon-Bardet-Biedl Syndrome
Bbs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome 1, also known as bbs1, is related to bardet-biedl syndrome 10 and bardet-biedl syndrome 3, and has symptoms including ataxia An important gene associated with Bardet-Biedl Syndrome 1 is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Intermedine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include kidney and heart, and related phenotypes are aganglionic megacolon and high palate
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Unknown
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51
302
85

疾病表征

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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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文献报道

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