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GENE - TERM ANNOTATION REPORT

RGD ID: 2060
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adrb2
Name: adrenoceptor beta 2
Acc ID: DOID:9004748
Term: Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Definition: HKLLS3 is a disease characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 is caused by homozygous or compound heterozygous mutation in the ADAMTS3 gene on chromosome 4q13. (OMIM)
Definition Source(s): OMIM:618154
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)
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