Bardet-Biedl Syndrome 18 (BBS18)

Alias:
Bbs18
Bardet-Biedl Syndrome, Type 18
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome 18, also known as bbs18, is related to bardet-biedl syndrome 4 and bardet-biedl syndrome 1. An important gene associated with Bardet-Biedl Syndrome 18 is BBIP1 (BBSome Interacting Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include kidney and heart, and related phenotypes are intellectual disability and cataract
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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16
91
1

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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