Search Ontology:
Human Disease

hyperphosphatemic familial tumoral calcinosis

Term ID
DOID:0111063
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
(all 15)
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
(all 4)
Ontology
Human Disease   ( DOID:0111063 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.