Term Name: Bardet-Biedl syndrome 14
Synonyms: BBS14
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
Ontology: Human Disease [DOID:0110136]   ( DOID:0110136 )

Relationships
is a type of: Bardet-Biedl syndrome