Term Name: Bardet-Biedl syndrome 1
Synonyms: BBS1
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.
Ontology: Human Disease [DOID:0110123]   ( DOID:0110123 )

Relationships
is a type of: Bardet-Biedl syndrome