Term Name: | 46,XX sex reversal 2 |
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Synonyms: | chromosome 17q24 dupication syndrome, SRXX2 |
Definition: | A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. |
Ontology: | Human Disease [DOID:0111763] ( DOID:0111763 ) |