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Human Disease

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
  • MIM:618723
Ontology
Human Disease   ( DOID:0080873 )
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