Bardet-Biedl syndrome 21 Disease Ontology Browser

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Disease Ontology Browser

Bardet-Biedl syndrome 21 (DOID:0081010)
Alliance: disease page
Alt IDs: OMIM:617406
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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