primary ovarian insufficiency 16

Term ID

DOID:0080873

Synonyms

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/

References

• OMIM:618723

Ontology

Human Disease   ( DOID:0080873 )