Branchiootorenal Syndrome (BOR)

Alias:
Branchio-Oto-Renal Syndrome
Branchiootorenal Spectrum Disorders
Branchio-Otorenal Dysplasia
Branchiootorenal Dysplasia
Melnick-Fraser Syndrome
Branchiootorenal/branchiootic Syndrome
Branchiootorenal Syndrome
Branchio-Otorenal Syndrome
Branchiootic Syndrome 1
Branchiootic Syndrome
Bor Syndrome
Bo Syndrome
Bos
Bor
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Branchiootorenal Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal syndrome 1 and branchiootic syndrome 1. An important gene associated with Branchiootorenal Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways are Genes controlling nephrogenesis and Markers of kidney cell lineage. Affiliated tissues include tonsil and kidney, and related phenotypes are growth/size/body region and nervous system
Related ID:
MESH:D019280

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
20
199
34

Medical Symptom

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Categorization
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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