Branchiootorenal Syndrome 2 (BOR2)

Alias:
Bor2
Branchio-Oto-Renal Syndrome Type 2
Branchiootorenal Syndrome, Type 2
Branchio-Oto-Renal Dysplasia 2
Branchiootorenal Dysplasia 2
Bor Syndrome 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Branchiootorenal Syndrome 2, also known as bor2, is related to myotonic dystrophy and branchiootorenal syndrome 1. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin and kidney, and related phenotypes are hearing impairment and renal insufficiency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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11
65
3

Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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