SPARQL | HTML Microdata document
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Namespace Prefixes
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owl http://www.w3.org/2002/07/owl#
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Statements
Subject Item _:vb50938860
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owl:Axiom
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n4:IAO_0000115
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n4:DOID_0060448
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A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/26396486
url:https://pubmed.ncbi.nlm.nih.gov/23288988/