Term Name: | ovarian dysgenesis 9 |
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Synonyms: | ODG9 |
Definition: | A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. |
Ontology: | Human Disease [DOID:0061013] ( DOID:0061013 ) |