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Human Disease

osteoglophonic dysplasia

Term ID
DOID:0111532
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. (3)
References
Ontology
Human Disease   ( DOID:0111532 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations