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