Term Name: Bardet-Biedl syndrome 13
Synonyms: BBS13
Definition: A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.
Ontology: Human Disease [DOID:0110135]   ( DOID:0110135 )

Relationships
is a type of: Bardet-Biedl syndrome