45,x/46,xy Mixed Gonadal Dysgenesis

Alias:
45,x0/46,xy Mixed Gonadal Dysgenesis
45,x0/46,xy Mgd
45,x/46,xy Mgd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
45,x/46,xy Mixed Gonadal Dysgenesis, also known as 45,x0/46,xy mixed gonadal dysgenesis, is related to gender incongruence and mixed gonadal dysgenesis. An important gene associated with 45,x/46,xy Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Nervous system development and Primary ovarian insufficiency. Affiliated tissues include cervix and ovary, and related phenotypes are short stature and cryptorchidism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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All ages
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9
115
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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