Branchiootic Syndrome (BOR)

Alias:
Bor Syndrome
Branchiootorenal Syndrome
Bo Syndrome
Branchiootorenal Spectrum Disorder
Melnick-Fraser Syndrome
Branchiootic Syndrome 1
Branchiootic Dysplasia
Bor
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Branchiootic Syndrome, also known as bor syndrome, is related to branchiootic syndrome 1 and branchiootorenal syndrome 1. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways are Markers of kidney cell lineage and Genes controlling nephrogenesis. Affiliated tissues include bone and kidney, and related phenotypes are hearing impairment and preauricular pit
Related ID:
MESH:C537104

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/100000
27
248
--

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!
Wechat
Comparison
Al agent
Tutorials
Back to top