Search Ontology:
Human Disease
hyperphosphatemic familial tumoral calcinosis
- Term ID
- DOID:0111063
- Synonyms
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- cortical hyperostosis with hyperphosphatemia
- familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
- familial Teutschlaender disease
- HFTC
- HHS
- 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
- 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. (5)
- References
-
- GARD:10879
- ICD10CM:M11.2
- MIM:211900
- ORDO:306661
- Ontology
- Human Disease ( DOID:0111063 )
- is a type of
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