FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term 46,XY sex reversal 7 ID (Ontology) DOID:0111774 (Human Disease)
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 DHH on chromosome 12q13.12.
Also Known As "46,XY gonadal dysgenesis, partial or complete, DHH-related" ; "46,XY sex reversal, partial or complete, DHH-related" ; "GDXYM" (for all, see Synonyms field below)
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 Genes
 46,XY sex reversal 7       1
 for disease ribbon | 46,XY sex reversal 7       1
 model of | 46,XY sex reversal 7       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
gonadal dysgenesis                     |
 |__46,XY complete gonadal dysgenesis__|
                                       46,XY sex reversal 7  1 rec.
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Is a autosomal recessive disease
46,XY complete gonadal dysgenesis
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Synonyms
  • "46,XY gonadal dysgenesis, partial or complete, DHH-related" EXACT
    "46,XY sex reversal, partial or complete, DHH-related" EXACT
    "GDXYM" EXACT OMO:0003012
    "gonadal dysgenesis, XY, male limited" EXACT
    "SRXY7" EXACT OMO:0003012
Secondary IDs
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MIM:233420