Term Name: primary ovarian insufficiency 3
Synonyms:
Definition: A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22.
Ontology: Human Disease [DOID:0080860]   ( DOID:0080860 )

Relationships
is a type of: autosomal dominant disease primary ovarian insufficiency