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GENE - TERM ANNOTATION REPORT

RGD ID: 2319323
Species: Rattus norvegicus
RGD Object: Gene
Symbol: LOC100361854
Name: ribosomal protein S26-like
Acc ID: DOID:1339
Term: Diamond-Blackfan anemia
Definition: A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Definition Source(s): MESH:D029503, http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia, http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia, http://www.cdc.gov/ncbddd/dba/, http://www.omim.org/entry/105650
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13449888554872ClinVarClinVar Annotator: match by term: Diamond-Blackfan anemia

 
 ISORGD:13449888554872ClinVarClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:25741868
 ISORGD:13449888554872ClinVarClinVar Annotator: match by term: Diamond-Blackfan anemia

PMID:28492532
 ISSRGD:134498813592920MouseDOOMIM:105650 , OMIM:606129 , OMIM:610629 , OMIM:612527 , OMIM:612528 , OMIM:612561 , OMIM:612562 , OMIM:612563 , OMIM:613308 , OMIM:613309 , OMIM:614900 , OMIM:615550 , OMIM:615909

 
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