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progressive retinal dystrophy due to retinol transport defect

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne.
Mondo Term and Equivalent IDs
MONDO:0014060:  progressive retinal dystrophy due to retinol transport defect
Orphanet:352718: 
UMLS:C3554593: