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GENE - TERM ANNOTATION REPORT

RGD ID: 3285
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pdgfrb
Name: platelet derived growth factor receptor beta
Acc ID: DOID:0080109
Term: infantile myofibromatosis
Definition: A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/27259011/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23731542 "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)
Pdgfrb ISOPDGFRB (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pdgfrb ISOPDGFRB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenilePMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31017643 PMID:31064749 PMID:31474318 PMID:34494111 PMID:9536098
Pdgfrb ISSPdgfrb (Mus musculus)13592920MouseDOOMIM:228550 | OMIM:615293 
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