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GENE - TERM ANNOTATION REPORT

RGD ID: 733664
Species: Homo sapiens
RGD Object: Gene
Symbol: PHEX
Name: phosphate regulating endopeptidase X-linked
Acc ID: DOID:9007505
Term: Familial Hypophosphatemic Rickets
Definition: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
Definition Source(s): MESH:D053098
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)
PHEX EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:3414685 PMID:9430241 PMID:11414762 PMID:18775977
PHEX IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial Hypophosphatemic RicketsPMID:11468271 PMID:12727977 PMID:18625346 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 PMID:9097956 PMID:9199930
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