DISEASES

Disease-gene associations mined from literature

Human genes for Bardet-Biedl syndrome 14

Bardet-Biedl syndrome 14 [DOID:0110136]

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.

Synonyms:  Bardet-Biedl syndrome 14,  BardetBiedl syndrome 14,  DOID:0110136,  BBS14