Antley-Bixler Syndrome

Alias:
Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome Phenotype
Antley and Bixler's Syndrome
Antley Bixler Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Antley-Bixler Syndrome, also known as antley and bixler's syndrome, is related to antley-bixler syndrome with genital anomalies and disordered steroidogenesis and antley-bixler syndrome without genital anomalies or disordered steroidogenesis. An important gene associated with Antley-Bixler Syndrome is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include bone and ovary, and related phenotypes are frontal bossing and joint stiffness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
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13
195
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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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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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IF
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