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primary ovarian insufficiency 11
Summary
- Definition
- A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.
- Super Class
- autosomal dominant disease primary ovarian insufficiency
External Links
- Disease Ontology
- DOID:0080868
- Mondo Disease Ontology
- OMIM
