FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary ovarian insufficiency 19 ID (Ontology) DOID:0112278 (Human Disease)
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.
Also Known As "POF19" ; "POI19" ; "premature ovarian failure 19"
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autosomal genetic disease
 |__autosomal recessive disease____
ovarian disease                    |
 |__primary ovarian insufficiency__|
                                   primary ovarian insufficiency 19
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Is a autosomal recessive disease
primary ovarian insufficiency
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Synonyms
  • "POF19" EXACT OMO:0003012
    "POI19" EXACT OMO:0003012
    "premature ovarian failure 19" EXACT
Secondary IDs
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MIM:619245