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Summary Literature (0)
DOID:0110135 - Bardet-Biedl syndrome 13


Disease Ontology Definition:A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.

Synonyms: BBS13

Xenbase Genes : mks1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014441 - Bardet-Biedl syndrome 13

MIM:
MIM:615990 - BARDET-BIEDL SYNDROME 13; BBS13

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)