Term Name: primary ovarian insufficiency 18
Synonyms: POF18, premature ovarian failure 18
Definition: A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.
Ontology: Human Disease [DOID:0112269]   ( DOID:0112269 )

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