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46 XY gonadal dysgenesis

^ http://purl.obolibrary.org/obo/DOID_14448


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. [ url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis url:https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms ]

Synonyms: 46,XY SEX REVERSAL, Swyer syndrome, Pure gonadal dysgenesis 46,XY

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The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS].

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DOID:14448

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