Elliptocytosis 3 (EL3)

Alias:
El3
Anemia, Neonatal Hemolytic, Fatal or Near-Fatal
Elliptocytosis Rhesus-Unlinked Type
Elliptocytosis, Hereditary
Elliptocytosis, Type 3
Elliptocytosis-3
Ovalocytosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Elliptocytosis 3, also known as el3, is related to ovalocytosis, southeast asian and hereditary elliptocytosis. An important gene associated with Elliptocytosis 3 is SPTB (Spectrin Beta, Erythrocytic). Affiliated tissues include kidney and heart, and related phenotypes are elliptocytosis and decreased mean corpuscular volume
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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
7
13

Medical Symptom

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

Gene & Mutation

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Gene
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
Journal
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IF
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