Branchiootorenal Syndrome (BOR)

Branchiootorenal Syndrome(来自ICD-11)
别称:
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
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相关ID:
MESH:D019280

基础信息

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参考文献
MALACARDS
AD
Newborn
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20
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34

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