ovarian dysgenesis 9

Term ID

DOID:0061013

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. https://pubmed.ncbi.nlm.nih.gov/34697795/

References

• MIM:619665

Ontology

Human Disease   ( DOID:0061013 )