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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:0112129
Term: severe congenital neutropenia 7
Definition: A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24753537/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/26324699/ "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)
Csf3r ISOCSF3R (Homo sapiens)7240710OMIM  
Csf3r ISOCSF3R (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessivePMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 PMID:23634996 PMID:23656643 PMID:24033266 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24753537 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26324699 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28652245 PMID:28762112 PMID:30028820 PMID:30348809 PMID:30891028 PMID:30967555 PMID:31309983 PMID:31321910 PMID:31697825 PMID:32581362 PMID:33108454 PMID:9536098
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