Antley-Bixler Syndrome with Disordered Steroidogenesis

Alias:
Trapezoidocephaly-Synostosis Syndrome
Antley-Bixler Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Antley-Bixler Syndrome with Disordered Steroidogenesis, also known as trapezoidocephaly-synostosis syndrome, is related to antley-bixler syndrome without genital anomalies or disordered steroidogenesis and antley-bixler syndrome. An important gene associated with Antley-Bixler Syndrome with Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include bone and ovary, and related phenotypes are Decreased shRNA abundance and Reduced mammosphere formation
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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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18
138
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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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References Literature

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