primary ovarian insufficiency 1

Term ID

DOID:0080857

Synonyms

• FMR1-related primary ovarian insufficiency
• Fragile X-associated primary ovarian insufficiency
• premature ovarian failure 1

Definition

A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). https://pubmed.ncbi.nlm.nih.gov/27861765/

References

• GARD:4480
• MIM:311360

Ontology

Human Disease   ( DOID:0080857 )