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Metadata
ID DOID:0112278
Name primary ovarian insufficiency 19
Definition A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22.
https://pubmed.ncbi.nlm.nih.gov/32845237/
Xrefs

MIM:619245

Synonyms

POF19 [EXACT]

POI19 [EXACT]

premature ovarian failure 19 [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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