OBO ID: DOID:0111063
Term Name: hyperphosphatemic familial tumoral calcinosis Search Ontology:
Synonyms:
  • cortical hyperostosis with hyperphosphatemia
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
  • familial Teutschlaender disease
  • HFTC
  • HHS
  • hypercalcemic tumoral calcinosis
  • hyperostosis with hyperphosphatemia
  • hyperphosphatemia hyperostosis
  • hyperphosphatemia hyperostosis syndrome
  • hyperphosphatemia tumoral calcinosis
  • lipocalcinogranulomatosis
  • morbus Teutschlaender
  • PHPTC
  • primary hyperphosphatemic tumoral calcinosis
  • tumoral calcinosis with hyperphosphatemia
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. (5)
References:
Ontology: Human Disease   (DOID:0111063)
OTHER hyperphosphatemic familial tumoral calcinosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GALNT3 Tumoral calcinosis, hyperphosphatemic, familial, 1 211900
PHENOTYPE No data available

CITATIONS (1)