Term Name: Antley-Bixler syndrome without disordered steroidogenesis
Synonyms:
Definition: An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.
Ontology: Human Disease [DOID:0081290]   ( DOID:0081290 )

Relationships
is a type of: Antley-Bixler syndrome autosomal dominant disease