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GENE - TERM ANNOTATION REPORT

RGD ID: 2541
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Efnb3
Name: ephrin B3
Acc ID: DOID:2729
Term: dyskeratosis congenita
Definition: A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Dyskeratosis_congenita "DO" "DO", http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita "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)
Efnb3 ISOEFNB3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dyskeratosis congenitaPMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532
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