Branchiootic Syndrome (BOR)

Branchiootic Syndrome(来自ICD-11)

别称:

Bor Syndrome

Branchiootorenal Syndrome

Bo Syndrome

Branchiootorenal Spectrum Disorder

Melnick-Fraser Syndrome

Branchiootic Syndrome 1

Branchiootic Dysplasia

Bor

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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

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