Metadata | |
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ID | DOID:0110138 |
Name | Bardet-Biedl syndrome 16 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. https://www.ncbi.nlm.nih.gov/pubmed/20835237, https://www.ncbi.nlm.nih.gov/pubmed/22626039 |
Xrefs | |
Synonyms |
BBS16 [EXACT] |
Parent Relationships |