Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
humans
|
| gptkbp:associatedWith |
cleft palate
Pierre Robin sequence |
| gptkbp:characterizedBy |
respiratory distress
short stature facial dysmorphism bowing of long bones sex reversal in some cases |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| gptkbp:firstDescribed |
gptkb:Maroteaux_et_al.
|
| https://www.w3.org/2000/01/rdf-schema#label |
campomelic dysplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mortalityRate |
high in neonatal period
|
| gptkbp:mutationAssociatedWith |
gptkb:SOX9_gene
|
| gptkbp:OMIM |
114290
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:SOX_gene
|
| gptkbp:bfsLayer |
6
|