OBO ID: DOID:0081290
Term Name: Antley-Bixler syndrome without disordered steroidogenesis Search Ontology:
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. https://pubmed.ncbi.nlm.nih.gov/15793702/
References:
Ontology: Human Disease   ( DOID:0081290 )
OTHER Antley-Bixler syndrome without disordered steroidogenesis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None