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DO Term : primary ovarian insufficiency 1 [DOID:0080857] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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).
  • synonyms:
  • OMIM:311360,
  • Fragile X-associated primary ovarian insufficiency,
  • 311360,
  • premature ovarian failure 1,
  • GARD:4480,
  • FMR1-related primary ovarian insufficiency
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