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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0008854 - Bardet-Biedl syndrome 1

OMIM:
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)