Bardet-Biedl Syndrome 1 (BBS1)

Alias:
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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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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51
308
85

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
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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