SPARQL | HTML Microdata document
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Namespace Prefixes
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owl http://www.w3.org/2002/07/owl#
xsdh http://www.w3.org/2001/XMLSchema#
Statements
Subject Item _:vb50941133
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n6:ECO_0007645
n6:ECO_0007637
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n6:IAO_0000115
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A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
obo:hasDbXref
url:https://rarediseases.info.nih.gov/diseases/9795/disease
url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes
url:https://www.ncbi.nlm.nih.gov/pubmed/29747658