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GENE - TERM ANNOTATION REPORT

RGD ID: 620178
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fgf23
Name: fibroblast growth factor 23
Acc ID: DOID:0111063
Term: 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. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15133511 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15590700 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16151858 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17710231 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Fgf23 ISOFGF23 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndromePMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25326637 PMID:29389098
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