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 1 ID (Ontology) DOID:0080857 (Human Disease)
Definition A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).
Also Known As "FMR1-related primary ovarian insufficiency" ; "Fragile X-associated primary ovarian insufficiency" ; "premature ovarian failure 1"
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 Genes
 primary ovarian insufficiency 1       1
 for disease ribbon | primary ovarian insufficiency 1       1
 model of | primary ovarian insufficiency 1       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease_____
ovarian disease                    |
 |__primary ovarian insufficiency__|
                                   primary ovarian insufficiency 1  1 rec.
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Is a X-linked monogenic disease
primary ovarian insufficiency
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Synonyms
  • "FMR1-related primary ovarian insufficiency" EXACT
    "Fragile X-associated primary ovarian insufficiency" EXACT
    "premature ovarian failure 1" EXACT
Secondary IDs
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GARD:4480
MIM:311360