Term Name: branchiootorenal syndrome 2
Synonyms: BOR2
Definition: A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32.
Ontology: Human Disease [DOID:0111424]   ( DOID:0111424 )

Relationships
is a type of: branchiootorenal syndrome