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DOID:0111532 - osteoglophonic dysplasia
Disease Ontology Definition:An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.
Synonyms: Fairbank-Keats syndrome, OGD, osteoglophonic dwarfism
Xenbase Genes : fgfr1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee