Human genes for osteoglophonic dysplasia
Osteoglophonic dysplasia [DOID:0111532]
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 FGFR1 on chromosome 8p11.23.
Synonyms: osteoglophonic dysplasia, DOID:0111532, osteoglophonic dysplasias, Fairbank-Keats syndrome, OGD ...