Bardet-Biedl syndrome 1

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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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: 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

MONDO:0008854 - Bardet-Biedl syndrome 1

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)