Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
skeletal dysplasia |
| gptkbp:affects |
skeletal system
craniofacial development |
| gptkbp:characterizedBy |
dwarfism
hearing loss midface hypoplasia frontal bossing craniofacial anomalies bone malformations fusion of bones (synostosis) |
| gptkbp:firstDescribed |
1976
Beighton et al. |
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
osteoglophonic dysplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR1_gene
|
| gptkbp:OMIM |
166250
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:FGFR1
|
| gptkbp:bfsLayer |
6
|