Epidermolysis Bullosa Simplex 2e, with Migratory Circinate Erythema (EBS2E)

Alias:
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Ebs2e
Epidermolysis Bullosa Simplex, with Migratory Circinate Erythema
Epidermolysis Bullosa Simplex with Circinate Migratory Erythema
Ebs with Circinate Migratory Erythema
Ebs-Migr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epidermolysis Bullosa Simplex 2e, with Migratory Circinate Erythema, also known as epidermolysis bullosa simplex with migratory circinate erythema, is related to epidermolysis bullosa simplex and epidermolysis bullosa simplex localized type. An important gene associated with Epidermolysis Bullosa Simplex 2e, with Migratory Circinate Erythema is KRT5 (Keratin 5). Affiliated tissues include skin and eye, and related phenotypes are generalized hypopigmentation and pruritus
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
1
7
9

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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