|
DOID:0110123 - Bardet-Biedl syndrome 1
Disease Ontology Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.
Synonyms: BBS1,
Xenbase Genes
:
bbs2,
arl6,
bbs4,
sdccag8,
bbs9,
ccdc28b,
bbs5,
bbs10,
lztfl1,
mkks,
bbs1,
tmem67,
bbs7,
ttc8,
ift27,
| MONDO:0008854 - Bardet-Biedl syndrome 1 |
| OMIM:209900 - BARDET-BIEDL SYNDROME 1; BBS1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Bardet-Biedl syndrome (is_a)