Term Name: Treacher Collins syndrome 1
Synonyms:
Definition: A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.
Ontology: Human Disease [DOID:0080789]   ( DOID:0080789 )

Relationships
is a type of: Treacher Collins syndrome