Term Name: Bardet-Biedl syndrome 19
Synonyms: BBS19
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.
Ontology: Human Disease [DOID:0110141]   ( DOID:0110141 )

Relationships
is a type of: Bardet-Biedl syndrome