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Namespace Prefixes

PrefixIRI
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n6http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
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
_:vb50944155
rdf:type
owl:Axiom
wdrs:describedby
n4:doid.owl
dc:type
n6:ECO_0007645 n6:ECO_0007637
owl:annotatedProperty
n6:IAO_0000115
owl:annotatedSource
n6:DOID_0111063
owl:annotatedTarget
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
obo:hasDbXref
url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis url:https://www.ncbi.nlm.nih.gov/pubmed/16151858 url:https://www.ncbi.nlm.nih.gov/pubmed/15590700 url:https://www.ncbi.nlm.nih.gov/pubmed/17710231 url:https://www.ncbi.nlm.nih.gov/pubmed/15133511