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GENE - TERM ANNOTATION REPORT

RGD ID: 12267840
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: PAX8
Name: paired box 8
Acc ID: DOID:0050328
Term: congenital hypothyroidism
Definition: A hypothyroidism that is present at birth. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Congenital_hypothyroidism "DO" "DO", http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism "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)
PAX8 ISOPAX8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital hypothyroidismPMID:16763387 PMID:25146893 PMID:26362610
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