Version: 8.0.0
Date: Tue Jan 28 2025
Bardet-Biedl syndrome 20
DOID:0081009
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Bardet-Biedl syndrome 20

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
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Sources of Associations

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      Associated Models

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