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GENE - TERM ANNOTATION REPORT

RGD ID: 8995125
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Pfas
Name: phosphoribosylformylglycinamidine synthase
Acc ID: DOID:1339
Term: Diamond-Blackfan anemia
Definition: A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia "DO" "DO", http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia "DO" "DO", http://www.cdc.gov/ncbddd/dba/ "DO" "DO", http://www.omim.org/entry/105650 "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)
Pfas ISOPFAS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Diamond-Blackfan anemiaPMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532
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