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Metadata
ID DOID:0080857
Name primary ovarian insufficiency 1
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).
https://pubmed.ncbi.nlm.nih.gov/27861765/
Xrefs

GARD:4480

OMIM:311360

Subsets

DO_rare_slim

Synonyms

FMR1-related primary ovarian insufficiency [EXACT]

Fragile X-associated primary ovarian insufficiency [EXACT]

premature ovarian failure 1 [EXACT]

Parent Relationships

is_a primary ovarian insufficiency

is_a X-linked monogenic disease

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