Bardet-Biedl Syndrome 16 (BBS16)

Alias:
Bbs16
Bardet-Biedl Syndrome, Type 16
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome 16, also known as bbs16, is related to senior-loken syndrome 7 and mckusick-kaufman syndrome, and has symptoms including respiratory distress An important gene associated with Bardet-Biedl Syndrome 16 is SDCCAG8 (SHH Signaling And Ciliogenesis Regulator SDCCAG8), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliopathies. Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
49
8

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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