Human genes for hyperphosphatemic familial tumoral calcinosis
Hyperphosphatemic familial tumoral calcinosis [DOID:0111063]
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: hyperphosphatemic familial tumoral calcinosis, DOID:0111063, hyperphosphatemic hereditary tumoral calcinosis, hyperphosphatemic familial tumoral calcinosises, cortical hyperostosis with hyperphosphatemia ...