Metadata | |
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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 | |
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 |