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DOID:1935 - Bardet-Biedl syndrome
Disease Ontology Definition:A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Synonyms:
Xenbase Genes
:
nphp1,
bbs2,
arl6,
bbs4,
sdccag8,
bbs9,
ccdc28b,
bbs5,
bbs10,
lztfl1,
mkks,
bbs1,
tmem67,
bbs7,
ttc8,
| MONDO:0015229 - Bardet-Biedl syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)