FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Bardet-Biedl syndrome 20 ID (Ontology) DOID:0081009 (Human Disease)
Definition A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23.
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 Bardet-Biedl syndrome 20       1
 for disease ribbon | Bardet-Biedl syndrome 20       1
 model of | Bardet-Biedl syndrome 20       1
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autosomal recessive disease__
syndrome_____________________|
                             Bardet-Biedl syndrome
                              |__Bardet-Biedl syndrome 20  1 rec.
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MIM:619471