Metadata | |
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ID | DOID:0061013 |
Name | ovarian dysgenesis 9 |
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/ |
Xrefs | |
Synonyms |
ODG9 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |