BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: Fibrosis, Liver ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.110 Biomarker disease BEFREE Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. 15666242 2005
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.110 Biomarker disease HPO