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Metadata
ID DOID:0081009
Name 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.
https://pubmed.ncbi.nlm.nih.gov/24290075/
Xrefs

MIM:619471

Parent Relationships

is_a Bardet-Biedl syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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