Term Name: | osteoglophonic dysplasia |
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Synonyms: | Fairbank-Keats syndrome, OGD, osteoglophonic dwarfism |
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. |
Ontology: | Human Disease [DOID:0111532] ( DOID:0111532 ) |