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Summary Literature (0)
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 FGFR1 on chromosome 8p11.23.

Synonyms: Fairbank-Keats syndrome, OGD, osteoglophonic dwarfism

Referenced OMIM:
OMIM:166250 - OSTEOGLOPHONIC DYSPLASIA; OGD

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : fgfr1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)


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