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GENE - TERM ANNOTATION REPORT

RGD ID: 12030058
Species: Pan paniscus
RGD Object: Gene
Symbol: FGF23
Name: fibroblast growth factor 23
Acc ID: DOID:0050948
Term: autosomal dominant hypophosphatemic rickets
Definition: A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)
Definition Source(s): http://www.omim.org/entry/193100?search=193100&highlight=193100 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "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)7240710OMIM  
FGF23 ISOFGF23 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANTPMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:1353055 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:35738466 PMID:5173181 PMID:9024275
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