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GENE - TERM ANNOTATION REPORT

RGD ID: 620813
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lbr
Name: lamin B receptor
Acc ID: DOID:9009255
Term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Definition: A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies.
Definition Source(s): OMIM:618019
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)
Lbr ISOLBR (Homo sapiens)7240710OMIM  
Lbr ISOLBR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALYPMID:18382993 PMID:23824842 PMID:25348816 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 PMID:30448303 PMID:32827848 PMID:34567078 PMID:36307859
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