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Achard Syndrome

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achard Syndrome is related to neonatal marfan syndrome and marfan syndrome. An important gene associated with Achard Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Elastic fibre formation and Hypothesized pathways in pathogenesis of cardiovascular disease. Related phenotypes are brachycephaly and micrognathia
Related ID：
MALACARDS：ACH006
OMIM：100700
MESH：C536012

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
6
66
2
ACH006

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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