Preferred Label : Hyperphosphatemic Familial Tumoral Calcinosis;
NCIt definition : An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3,
FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast
growth factor 23, and klotho, respectively. This condition, the biochemical hallmark
of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized
by the progressive deposition of calcium phosphate crystals in periarticular spaces,
soft tissues, and/or bone.;
Origin ID : C131851;
UMLS CUI : C1876187;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset