OBO ID: DOID:0111532
Term Name: osteoglophonic dysplasia Search Ontology:
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:
OTHER osteoglophonic dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR1 Osteoglophonic dysplasia 166250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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