primary ovarian insufficiency 1

Summary
Synonym
  • 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).
Super Class
X-linked monogenic disease primary ovarian insufficiency
Disease Ontology
DOID:0080857
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2332 FMR1 fragile X messenger ribonucleoprotein 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024