Acrofacial Dysostosis, Cincinnati Type (AFDCIN)

Alias:
Acrofacial Dysostosis Cincinnati Type
Afdcin
Dysostosis, Acrofacial, Cincinnati Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acrofacial Dysostosis, Cincinnati Type, also known as acrofacial dysostosis cincinnati type, is related to dysostosis and acrofacial dysostosis. An important gene associated with Acrofacial Dysostosis, Cincinnati Type is POLR1A (RNA Polymerase I Subunit A), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Pyrimidine metabolism. Affiliated tissues include bone, and related phenotypes are micrognathia and midface retrusion
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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9
48
2

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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