Bardet-Biedl syndrome 1

Summary

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

MIM:

MIM:209900 - BARDET-BIEDL SYNDROME 1; BBS1

MIM:209900 - BARDET-BIEDL SYNDROME 1; BBS1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Bardet-Biedl syndrome (is_a)