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Article

Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man.

Investigative ophthalmology & visual science - 1 May 2016

Pandey Priyanka, Acharya Moulinath

Abstract excerpt

PURPOSE: Capturing organ-specific phenomes in genetic diseases is an uphill task for the eye as it comprises tissue types derived from all three germinal layers. We attempted to deconstruct genetic eye diseases (GEDs) into primary phenotypic features, to understand the complex genome-phenome relationship in GEDs. METHODS: Using phenotype, molecular basis, and gene description features in OMIM as a primary...

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PMID: 27168365
DOI: 10.1167/iovs.15-18057

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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