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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11632730
Species: Homo sapiens
RGD Object: Variant
Symbol: CV265149
Name: NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
Acc ID: DOID:0050445
Term: X-linked dominant hypophosphatemic rickets
Definition: A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/X-linked_hypophosphatemia "DO" "DO", https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia "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)
CV265149 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory ricketsPMID:14564077 PMID:19219621 PMID:21902834 PMID:24836714 PMID:25525159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29460029 PMID:9097956 PMID:9106524
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