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Metadata
ID DOID:0111776
Name 46,XY sex reversal 5
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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
https://www.ncbi.nlm.nih.gov/pubmed/19361780, https://www.ncbi.nlm.nih.gov/pubmed/1956279
Xrefs

MESH:C567766

OMIM:613080

Synonyms

46,XY gonadal dysgenesis, complete, CBX2-related [EXACT]

46,XY sex reversal, CBX2-related [EXACT]

disorder of sex development, 46,XY, CBX2-related [EXACT]

sex reversal, XY, CBX2-related [EXACT]

SRXY5 [EXACT]

Parent Relationships

is_a 46,XY sex reversal

is_a autosomal recessive disease

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