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COL4A5 c.1390G>A
ALS1
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Rare Disease
Short Stature-Webbed Neck-Heart Disease Syndrome
Alias:
Al Gazali-Aziz-Salem Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Short Stature-Webbed Neck-Heart Disease Syndrome, is also known as al gazali-aziz-salem syndrome. Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and short neck
Related ID:
MALACARDS:SHR139
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
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--
--
SHR139
Medical Symptom
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Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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No data available
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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