Term Name: branchiootorenal syndrome 1
Synonyms: BOR1
Definition: A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.
Ontology: Human Disease [DOID:0111423]   ( DOID:0111423 )

Relationships
is a type of: branchiootorenal syndrome