FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperphosphatemic familial tumoral calcinosis ID (Ontology) DOID:0111063 (Human Disease)
Definition 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.
Also Known As "cortical hyperostosis with hyperphosphatemia" ; "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" ; "familial Teutschlaender disease" (for all, see Synonyms field below)
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 Genes
 hyperphosphatemic familial tumoral calcinosis       2
 for disease ribbon | hyperphosphatemic familial tumoral calcinosis       2
 model of | hyperphosphatemic familial tumoral calcinosis       2
Spanning Tree (Parents/Children)
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disease of metabolism
 |__inherited metabolic disorder__
autosomal genetic disease         |
 |__autosomal recessive disease___|
calcium metabolism disease        |
 |__calcinosis____________________|
genetic disease                   |
 |__inherited metabolic disorder__|
                                  hyperphosphatemic familial tumoral calcinosis  2 rec.
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Is a autosomal recessive disease
calcinosis
inherited metabolic disorder
Part of
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Synonyms
  • "cortical hyperostosis with hyperphosphatemia" EXACT
    "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT
    "familial Teutschlaender disease" EXACT
    "HFTC" EXACT OMO:0003012
    "hypercalcemic tumoral calcinosis" EXACT
    "hyperostosis with hyperphosphatemia" EXACT
    "hyperphosphatemia hyperostosis" EXACT
    "hyperphosphatemia hyperostosis syndrome" EXACT
    "hyperphosphatemia tumoral calcinosis" EXACT
    "lipocalcinogranulomatosis" EXACT
    "morbus Teutschlaender" EXACT
    "PHPTC" EXACT OMO:0003012
    "primary hyperphosphatemic tumoral calcinosis" EXACT
    "tumoral calcinosis with hyperphosphatemia" EXACT
Secondary IDs
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GARD:10879
ICD10CM:M11.2
MIM:211900
ORDO:306661