Term Name: | Bardet-Biedl syndrome 6 |
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Synonyms: | BBS6 |
Definition: | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. |
Ontology: | Human Disease [DOID:0110128] ( DOID:0110128 ) |