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Metadata
ID DOID:0080868
Name primary ovarian insufficiency 11
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.
https://pubmed.ncbi.nlm.nih.gov/26218421/
Xrefs

MIM:616946

Parent Relationships

is_a autosomal dominant disease

is_a primary ovarian insufficiency

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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