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Metadata
ID DOID:0081010
Name Bardet-Biedl syndrome 21
Definition A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22.
https://pubmed.ncbi.nlm.nih.gov/27008867/
Xrefs

MIM:617406

Parent Relationships

is_a Bardet-Biedl syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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