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Disease Ontology Browser
osteoglophonic dysplasia (DOID:0111532)
Alliance: disease page
Synonyms: Fairbank-Keats syndrome; OGD; osteoglophonic dwarfism
Alt IDs: OMIM:166250, MESH:C536050, ORDO:2645, UMLS_CUI:C0432283
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory