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Metadata
ID DOID:0111775
Name 46,XY sex reversal 10
Definition A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.
https://www.ncbi.nlm.nih.gov/pubmed/1956279, https://www.ncbi.nlm.nih.gov/pubmed/22051515
Xrefs

OMIM:616425

Synonyms

chromosome 17q24 deletion syndrome [EXACT]

SRXY10 [EXACT]

Parent Relationships

is_a 46,XY sex reversal

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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