Bardet-Biedl syndrome 1
A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
MONDO:0015229
Bardet-Biedl syndrome
is_a
MONDO:1040043
BBS1-related ciliopathy
is_a
BBS1
exact
Bardet-Biedl syndrome 1
exact
Bardet-Biedl syndrome 1, modifier of
exact
Bardet-Biedl syndrome type 1
exact