Bardet-Biedl Syndrome 13 (BBS13)

Alias:
Bbs13
Bardet-Biedl Syndrome, Type 13
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome 13, also known as bbs13, is related to joubert syndrome 28 and bardet-biedl syndrome 1. An important gene associated with Bardet-Biedl Syndrome 13 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include heart and retina, and related phenotypes are intellectual disability and obesity
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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
40
11

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

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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