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Namespace Prefixes

PrefixIRI
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rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50942065
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wdrs:describedby
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dc:type
n3:ECO_0007645
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n3:IAO_0000115
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An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/11138003 url:https://www.ncbi.nlm.nih.gov/pubmed/11099417