Disease: Reticular Dystrophy Of Retinal Pigment Epithelium ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867332
Disease: Reticular Dystrophy Of Retinal Pigment Epithelium
Reticular Dystrophy Of Retinal Pigment Epithelium 		0.300 GermlineCausalMutation disease ORPHANET Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016