About: hyperphosphatemic familial tumoral calcinosis

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease calcinosis inherited metabolic disorder nodeID://b50944154
label	hyperphosphatemic familial tumoral calcinosis
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111063
database_cross_reference	GARD:10879 ICD10CM:M11.2 OMIM:211900 ORDO:306661
has_exact_synonym	HFTC (en) HHS (en) familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome (en) PHPTC (en) cortical hyperostosis with hyperphosphatemia (en) familial Teutschlaender disease (en) hypercalcemic tumoral calcinosis (en) hyperostosis with hyperphosphatemia (en) hyperphosphatemia hyperostosis (en) hyperphosphatemia hyperostosis syndrome (en) hyperphosphatemia tumoral calcinosis (en) lipocalcinogranulomatosis (en) morbus Teutschlaender (en) primary hyperphosphatemic tumoral calcinosis (en) tumoral calcinosis with hyperphosphatemia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944155

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