Metadata | |
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ID | DOID:0110139 |
Name | Bardet-Biedl syndrome 17 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/22510444, https://www.ncbi.nlm.nih.gov/pubmed/23692385 |
Xrefs | |
Synonyms |
BBS17 [EXACT] |
Parent Relationships |