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Namespace Prefixes

PrefixIRI
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n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
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
n2:DOID_0111063
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_182 _:vb50944154 n2:DOID_655 n2:DOID_0050737
rdfs:label
hyperphosphatemic familial tumoral calcinosis
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obo:id
DOID:0111063
obo:hasDbXref
GARD:10879 ORDO:306661 ICD10CM:M11.2 OMIM:211900
obo:hasExactSynonym
hyperphosphatemia hyperostosis familial Teutschlaender disease hyperphosphatemia hyperostosis syndrome familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome morbus Teutschlaender HHS primary hyperphosphatemic tumoral calcinosis cortical hyperostosis with hyperphosphatemia hyperostosis with hyperphosphatemia PHPTC hypercalcemic tumoral calcinosis lipocalcinogranulomatosis tumoral calcinosis with hyperphosphatemia hyperphosphatemia tumoral calcinosis HFTC
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.
Subject Item
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