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familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


GARD Rare
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0100251:  familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
GARD:0010879: 
NCIT:C131851: 
Orphanet:306661: 
UMLS:C1876187: