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GENE - TERM ANNOTATION REPORT

RGD ID: 9026414
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Csf3r
Name: colony stimulating factor 3 receptor
Acc ID: DOID:0050590
Term: severe congenital neutropenia
Definition: A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17133096 "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)
Csf3rdisease_progressionISOCSF3R (Homo sapiens)9068941RGD PMID:16985178 REF_RGD_ID:10450485
Csf3r ISOCSF3R (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe congenital neutropeniaPMID:24753537 PMID:26324699 PMID:28492532 PMID:28652245 PMID:31321910 PMID:32581362
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