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