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GENE - TERM ANNOTATION REPORT

RGD ID: 1564440
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sohlh1
Name: spermatogenesis and oogenesis specific basic helix-loop-helix 1
Acc ID: DOID:0080497
Term: ovarian dysgenesis 5
Definition: A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)
Definition Source(s): https://www.omim.org/entry/617690
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:16051847240710OMIM  
 ISORGD:16051848554872ClinVarClinVar Annotator: match by term: OVARIAN DYSGENESIS 5

PMID:17301727, PMID:25741868, PMID:25774885
 ISORGD:16051848554872ClinVarClinVar Annotator: match by term: OVARIAN DYSGENESIS 5

PMID:25774885
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.