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Metadata
ID DOID:0080873
Name primary ovarian insufficiency 16
Definition A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.
https://pubmed.ncbi.nlm.nih.gov/30010909/
Xrefs

MIM:618723

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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