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Tumoral Calcinosis, Hyperphosphatemic, Familial MeSH Supplementary Concept Data 2023


MeSH Supplementary
Tumoral Calcinosis, Hyperphosphatemic, Familial
Unique ID
C566870
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C566870
Entry Term(s)
Calcinosis, Tumoral, With Hyperphosphatemia
Hyperphosphatemia Hyperostosis
Hyperphosphatemia Hyperostosis Syndrome
Hyperphosphatemia Tumoral Calcinosis
Hyperphosphatemic Familial Tumoral Calcinosis
Lipocalcinogranulomatosis
Morbus Teutschlaender
Primary Hyperphosphatemic Tumoral Calcinosis
Teutschlaender Disease, Familial
Tumoral Calcinosis, Primary Hyperphosphatemic
Registry Number
0
Heading Mapped to
*Calcinosis
*Hyperostosis, Cortical, Congenital
*Hyperphosphatemia
Frequency
55
Note
A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. Hyperphosphatemia is caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 gene. OMIM: 211900
Date of Entry
2012/11/05
Revision Date
2015/11/10
Tumoral Calcinosis, Hyperphosphatemic, Familial Preferred
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