Fibrosis of Extraocular Muscles, Congenital, 5 (CFEOM5)

Alias:
Cfeom5
Fibrosis of Extraocular Muscles, Congenital, Type 5
Congenital Fibrosis of the Extraocular Muscles 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fibrosis of Extraocular Muscles, Congenital, 5, also known as cfeom5, is related to fibrosis of extraocular muscles, congenital, 1. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 5 is COL25A1 (Collagen Type XXV Alpha 1 Chain). Related phenotypes are ptosis and duane anomaly
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Basic Information

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

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
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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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