OBO ID: DOID:0060232
Term Name: branchiootic syndrome Search Ontology:
Synonyms:
  • BO syndrome
  • BOR
  • branchiootic dysplasia
Definition: A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (2)
References:
Ontology: Human Disease   (DOID:0060232)
Relationships
is a type of:
OTHER branchiootic syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EYA1 Branchiootic syndrome 1 602588
Anterior segment anomalies with or without cataract 602588
SIX1 Branchiootic syndrome 3 608389
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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