SPARQL | HTML Microdata document
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Namespace Prefixes
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Statements
Subject Item _:vb50937339
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A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/31062505
url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
url:https://www.ncbi.nlm.nih.gov/books/NBK1488/
url:https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome