FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	46,XY complete gonadal dysgenesis	ID (Ontology)	DOID:14448 (Human Disease)
Definition	A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
Also Known As	"46 XY gonadal dysgenesis" ; "46,XY sex reversal" ; "Pure gonadal dysgenesis 46,XY" (for all, see Synonyms field below)
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Links to External Ontologies
	DO.org
Annotations
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Spanning Tree (Parents/Children)

  disorder of sexual development
   |__gonadal dysgenesis
       |__46,XY complete gonadal dysgenesis  12 rec.
           |__46,XY sex reversal 1 3 rec.
           |__46,XY sex reversal 2
           |__46,XY sex reversal 3 2 rec.
           |__46,XY sex reversal 4
           |__46,XY sex reversal 5 1 rec.
           |__46,XY sex reversal 6
           |__46,XY sex reversal 7 1 rec.
           |__46,XY sex reversal 8 3 rec.
           |__46,XY sex reversal 9 1 rec.
           |__46,XY sex reversal 10 1 rec.

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Relationships
Is a	gonadal dysgenesis
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Synonyms & Secondary IDs
Synonyms
	"46 XY gonadal dysgenesis" EXACT "46,XY sex reversal" EXACT "Pure gonadal dysgenesis 46,XY" EXACT "Swyer syndrome" EXACT
Secondary IDs

External Crossreferences & Linkouts
	MESH:D006061 MIM:PS400044 NCI:C120198 UMLS_CUI:C0018054