BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker disease MGD Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. 26216965 2015
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker disease MGD Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. 23160237 2012
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker disease MGD A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker disease MGD Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 15322545 2004