Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder rare disease |
| gptkbp:affects |
infants
|
| gptkbp:alsoKnownAs |
Caffey-Silverman syndrome
infantile cortical hyperostosis |
| gptkbp:characterizedBy |
fever
irritability soft tissue swelling subperiosteal new bone formation |
| gptkbp:commonIn |
clavicle
mandible long bones |
| gptkbp:firstDescribed |
gptkb:John_Caffey
1945 |
| https://www.w3.org/2000/01/rdf-schema#label |
Caffey disease
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL1A1_gene
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
self-limiting
|
| gptkbp:radiographicFinding |
cortical thickening of bones
|
| gptkbp:symptom |
fever
pain swelling |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:COL1A1_gene
gptkb:COL1A2_gene gptkb:COL1A1 |
| gptkbp:bfsLayer |
7
|