Search Ontology:
Human Disease
osteoglophonic dysplasia
- Term ID
- DOID:0111532
- Synonyms
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- 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
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- GARD:4142
- MESH:C536050
- MIM:166250
- ORDO:2645
- SNOMEDCT_US_2023_03_01:254144002
- UMLS_CUI:C0432283
- Ontology
- Human Disease ( DOID:0111532 )
- is a type of
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Genes Involved
Zebrafish Models