Term Name: | Bardet-Biedl syndrome 17 |
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Synonyms: | BBS17 |
Definition: | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. |
Ontology: | Human Disease [DOID:0110139] ( DOID:0110139 ) |