Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia

Alias:
Partial Atrioventricular Canal Defect Without Ventricular Hypoplasia
Partial Atrioventricular Septal Defect with Balanced Ventricles
Partial Avsd Without Ventricular Hypoplasia
Balanced Partial Atrioventricular Canal
Pavc Without Ventricular Hypoplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia, is also known as partial atrioventricular canal defect without ventricular hypoplasia. An important gene associated with Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia is CRELD1 (Cysteine Rich With EGF Like Domains 1).
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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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1
8
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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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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
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IF
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