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GENE - TERM ANNOTATION REPORT

RGD ID: 1305705
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Otx2
Name: orthodenticle homeobox 2
Acc ID: DOID:0112338
Term: spermatogenic failure 57
Definition: A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/34347949/ "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)
Otx2 ISOOTX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutationPMID:22715480 PMID:25741868 PMID:28492532 PMID:33296094
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