Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |