Summary Literature (0)

DOID:0111063 - hyperphosphatemic familial tumoral calcinosis

Disease Ontology 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.

Synonyms: HFTC, HHS, PHPTC, cortical hyperostosis with hyperphosphatemia, familial Teutschlaender disease, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, hypercalcemic tumoral calcinosis, hyperostosis with hyperphosphatemia, hyperphosphatemia hyperostosis, hyperphosphatemia hyperostosis syndrome, hyperphosphatemia tumoral calcinosis, lipocalcinogranulomatosis, morbus Teutschlaender, primary hyperphosphatemic tumoral calcinosis, tumoral calcinosis with hyperphosphatemia,

Echinobase Genes :


OMIM:

MIM:211900 - tumoral calcinosis, hyperphosphatemic, familial; hftc

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee