46,xy Complete Gonadal Dysgenesis

Alias:
46,xy Pure Gonadal Dysgenesis
Swyer Syndrome
46,xy Cgd
46, Xy Cgd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Complete Gonadal Dysgenesis, also known as 46,xy pure gonadal dysgenesis, is related to 46,xy sex reversal 1 and 46,xy sex reversal 11. An important gene associated with 46,xy Complete Gonadal Dysgenesis is AR (Androgen Receptor), and among its related pathways/superpathways are Nervous system development and Primary ovarian insufficiency. Affiliated tissues include testes and uterus, and related phenotypes are hypogonadotropic hypogonadism and polycystic ovaries
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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11
148
2

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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