BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Disease: Retinal Degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.110 Biomarker phenotype LHGDN Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. 17065520 2006
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.110 Biomarker phenotype HPO