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Disease Ontology Browser
hyperphosphatemic familial tumoral calcinosis (DOID:0111063)
Alliance: disease page
Synonyms: cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; 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
Alt IDs: OMIM:211900, ICD10CM:M11.2, ORDO:306661
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory