46,xy Sex Reversal 1 (SRXY1)

Alias:
46,xy Gonadal Dysgenesis, Complete, Sry-Related
Srxy1
46,xy Sex Reversal, Sry-Related
Swyer Syndrome
46,xy Gonadal Dysgenesis Complete Sry-Related
46,xy True Hermaphroditism, Sry-Related
46,xy True Hermaphroditism Sry-Related
Gonadal Dysgenesis, Xy Female Type
Gonadal Dysgenesis Xy Female Type
46,xy Sex Reversal Sry-Related
Sex Reversal, 46,xy, Type 1
Gonadal Dysgenesis, 46,xy
46xy Sex Reversal 1
46, Xy Female
Xy Females
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Sex Reversal 1, also known as 46,xy gonadal dysgenesis, complete, sry-related, is related to 46,xy sex reversal and 46,xy complete gonadal dysgenesis. An important gene associated with 46,xy Sex Reversal 1 is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Male infertility and Regulation of Androgen receptor activity. Affiliated tissues include uterus and cervix, and related phenotypes are primary amenorrhea and hypergonadotropic hypogonadism
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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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7
60
74

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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