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Hemolytic Uremic Syndrome, Atypical, 8, with Rhizomelic Short Stature (AHUS8)

Alias:
Ahus8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemolytic Uremic Syndrome, Atypical, 8, with Rhizomelic Short Stature, is also known as ahus8. An important gene associated with Hemolytic Uremic Syndrome, Atypical, 8, with Rhizomelic Short Stature is C1GALT1C1 (C1GALT1 Specific Chaperone 1).
Related ID：
MALACARDS：HML059
OMIM：301110

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
5
2
HML059

Medical Symptom

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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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Status
Phase
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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PMID
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IF
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