RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
Disease: ICHTHYOSIS--CHEEK--EYEBROW SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840283
Disease: ICHTHYOSIS--CHEEK--EYEBROW SYNDROME
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME 		0.010 Biomarker disease BEFREE Cases of ARS with overlapping features with other ASD, like aniridia (complete or incomplete absence of iris), iridocorneal endothelial (ICE) syndrome (beaten metal appearance of corneal endothelium), Peters anomaly, isolated trabeculodysgenesis (evidenced by Haab's striae, buphthalmos, and epiphora) in one or both eyes with other typical ARS features in the same or other eye were included and screened. 27929720 2018