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Metadata
ID DOID:0111063
Name hyperphosphatemic familial tumoral calcinosis
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.
https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis, https://www.ncbi.nlm.nih.gov/pubmed/15133511, https://www.ncbi.nlm.nih.gov/pubmed/15590700, https://www.ncbi.nlm.nih.gov/pubmed/16151858, https://www.ncbi.nlm.nih.gov/pubmed/17710231
Xrefs

GARD:10879

ICD10CM:M11.2

OMIM:211900

ORDO:306661

Synonyms

cortical hyperostosis with hyperphosphatemia [EXACT]

familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome [EXACT]

familial Teutschlaender disease [EXACT]

HFTC [EXACT]

HHS [EXACT]

hypercalcemic tumoral calcinosis [EXACT]

hyperostosis with hyperphosphatemia [EXACT]

hyperphosphatemia hyperostosis [EXACT]

hyperphosphatemia hyperostosis syndrome [EXACT]

hyperphosphatemia tumoral calcinosis [EXACT]

lipocalcinogranulomatosis [EXACT]

morbus Teutschlaender [EXACT]

PHPTC [EXACT]

primary hyperphosphatemic tumoral calcinosis [EXACT]

tumoral calcinosis with hyperphosphatemia [EXACT]

Parent Relationships

is_a calcinosis

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