MSeqDR Mitochondrial Disease Portal


 
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..Starting node
..expandBardet-Biedl syndrome ()

       Child Nodes:
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 Sister Nodes: 
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..expandBardet-Biedl syndrome ()
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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15229
Name:Bardet-Biedl syndrome
Definition:Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Alternative IDs:
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TreeNumbers:
Synonyms:BBS; Laurence-Moon syndrome; Laurence-Moon-Bardet-Biedl syndrome; Laurence-Moon-Biedl syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Disease Causing ClinVar Variants
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