FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bardet-Biedl syndrome 13 ID (Ontology) DOID:0110135 (Human Disease)
Definition A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.
Also Known As "BBS13"
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 Genes
 Bardet-Biedl syndrome 13       1
 for disease ribbon | Bardet-Biedl syndrome 13       1
 model of | Bardet-Biedl syndrome 13       1
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autosomal recessive disease__
syndrome_____________________|
                             Bardet-Biedl syndrome
                              |__Bardet-Biedl syndrome 13  1 rec.
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Is a Bardet-Biedl syndrome
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Synonyms
  • "BBS13" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q87.89
MESH:C567140
MIM:615990