Metadata | |
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ID | DOID:0110136 |
Name | Bardet-Biedl syndrome 14 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/18327255 |
Xrefs | |
Synonyms |
BBS14 [EXACT] |
Parent Relationships |