Term Name: | Bardet-Biedl syndrome 21 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081010] ( DOID:0081010 ) |