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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: 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
Xenbase Genes
:
fgf23.2,
fgf23,
galnt3,
kl
| MONDO:0008897 - fin |
| MIM:211900 - TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
calcinosis (is_a),
inherited metabolic disorder (is_a)