Search Ontology:
Human Disease

Antley-Bixler syndrome without disordered steroidogenesis

Term ID
DOID:0081290
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models