Visualize Submit Comment

Metadata
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	ICD10CM:Q87.89 MESH:C567141 OMIM:615991
Synonyms	BBS14 [EXACT]
Parent Relationships	is_a Bardet-Biedl syndrome