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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: HHS, familial Teutschlaender disease, hypercalcemic tumoral calcinosis, hyperphosphatemia hyperostosis, hyperphosphatemia hyperostosis syndrome, cortical hyperostosis with hyperphosphatemia, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, lipocalcinogranulomatosis, morbus Teutschlaender, PHPTC, HFTC, hyperostosis with hyperphosphatemia, hyperphosphatemia tumoral calcinosis, 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
Parent(s):
autosomal recessive disease (is_a),
calcinosis (is_a),
inherited metabolic disorder (is_a)