Phace Association

Alias:
Aortic Aneurysm, Giant Congenital
Phaces Association
Phace Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phace Association, also known as aortic aneurysm, giant congenital, is related to phace syndrome and microphthalmia, and has symptoms including seizures An important gene associated with Phace Association is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include brain and eye, and related phenotypes are seizure and global developmental delay

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Antenatal
--
1
25
13

Medical Symptom

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

Gene & Mutation

#
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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