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Cicatricial Lagophthalmos

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cicatricial Lagophthalmos is related to epidermolysis bullosa and lagophthalmos. An important gene associated with Cicatricial Lagophthalmos is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways are Innate Immune System and Infectious disease. Affiliated tissues include skin and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and normal
Related ID：
MALACARDS：CCT004
MESH：D000092164
ICD11：1868697470

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
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20
52
--
CCT004

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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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