DOID:0110131 - Bardet-Biedl syndrome 9
Disease Ontology Definition:A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.
Echinobase Genes :
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)