FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term primary ovarian insufficiency 11 ID (Ontology) DOID:0080868 (Human Disease)
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.
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autosomal genetic disease
 |__autosomal dominant disease_____
ovarian disease                    |
 |__primary ovarian insufficiency__|
                                   primary ovarian insufficiency 11
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Is a autosomal dominant disease
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MIM:616946