Term Name: | Antley-Bixler syndrome without disordered steroidogenesis |
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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 ) |