Term Name: 46,XX sex reversal 2
Synonyms: chromosome 17q24 duplication 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 )

Relationships
is a type of: 46,XX sex reversal autosomal dominant disease