SPARQL | HTML Microdata document
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Namespace Prefixes
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Statements
Subject Item _:vb50945333
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n4:ECO_0007645
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n4:IAO_0000115
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A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/23830519
url:https://www.ncbi.nlm.nih.gov/pubmed/7531539