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DO Term : hyperphosphatemic familial tumoral calcinosis [DOID:0111063] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • lipocalcinogranulomatosis,
  • hyperphosphatemia hyperostosis syndrome,
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome,
  • hyperostosis with hyperphosphatemia,
  • OMIM:211900,
  • HFTC,
  • familial Teutschlaender disease,
  • morbus Teutschlaender,
  • tumoral calcinosis with hyperphosphatemia,
  • cortical hyperostosis with hyperphosphatemia,
  • 211900,
  • primary hyperphosphatemic tumoral calcinosis,
  • ICD10CM:M11.2,
  • hypercalcemic tumoral calcinosis,
  • hyperphosphatemia hyperostosis,
  • ORDO:306661,
  • GARD:10879,
  • hyperphosphatemia tumoral calcinosis,
  • PHPTC
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