FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term osteoglophonic dysplasia ID (Ontology) DOID:0111532 (Human Disease)
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.
Also Known As "Fairbank-Keats syndrome" ; "OGD" ; "osteoglophonic dwarfism"
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 Genes
 osteoglophonic dysplasia       1
 for disease ribbon | osteoglophonic dysplasia       1
 model of | osteoglophonic dysplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                osteoglophonic dysplasia  1 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
Part of
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Synonyms
  • "Fairbank-Keats syndrome" EXACT
    "OGD" EXACT OMO:0003012
    "osteoglophonic dwarfism" EXACT
Secondary IDs
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GARD:4142
MESH:C536050
MIM:166250
ORDO:2645
SNOMEDCT_US_2023_03_01:254144002
UMLS_CUI:C0432283