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GENE - TERM ANNOTATION REPORT

RGD ID: 11842100
Species: Pan paniscus
RGD Object: Gene
Symbol: FGFR2
Name: fibroblast growth factor receptor 2
Acc ID: DOID:0081290
Term: Antley-Bixler syndrome without disordered steroidogenesis
Definition: An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)
Definition Source(s): PMID:15793702 "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)
FGFR2 ISOFGFR2 (Homo sapiens)7240710OMIM  
FGFR2 ISOFGFR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisPMID:10076886 PMID:10076887 PMID:10406670 PMID:10541159 PMID:10633130 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15316116 PMID:15389579 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21397175 PMID:22558232 PMID:22664175 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:27079505 PMID:27323706 PMID:28492532 PMID:29848297 PMID:31145570 PMID:32879300 PMID:36474027 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378
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