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Metadata
ID DOID:0112269
Name primary ovarian insufficiency 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.
https://pubmed.ncbi.nlm.nih.gov/33508233/
Xrefs

MIM:619203
Synonyms

POF18 [EXACT]

premature ovarian failure 18 [EXACT]
Parent Relationships

is_a primary ovarian insufficiency

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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