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Gonadal Dysgenesis, 46,Xy

Disease ID: disease_node_3577

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DbxrefMESH:D006061, MIM:607080, MIM:PS400044, NCI:C120198, UMLS_CUI:C0018054
SubclassofDOID_14447
Data SourceDOID, MESH
Synonyms46 XY gonadal dysgenesis, Pure gonadal dysgenesis 46,XY, Swyer syndrome
Mesh IdD006061
Mesh LabelGonadal Dysgenesis, 46,XY
Mesh SubclassofD058490, D006059
Doid Label46,XY sex reversal
Doid DescriptionA 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. 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].
Disease Node Iddisease_node_3577
Doid IdDOID_14448
LabelGonadal Dysgenesis, 46,Xy