| 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 | |
| Subsets |
DO_rare_slim |
| 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 inherited metabolic disorder is_a calcinosis |