Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
bones
joints |
| gptkbp:alsoKnownAs |
CCTD
|
| gptkbp:characterizedBy |
carpal abnormalities
cranial abnormalities tarsal abnormalities |
| gptkbp:diagnosedBy |
clinical evaluation
radiographic findings |
| https://www.w3.org/2000/01/rdf-schema#label |
craniocarpotarsal dystrophy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:symptom |
short stature
skeletal dysplasia joint contractures craniosynostosis |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Freeman-Sheldon_syndrome
|
| gptkbp:bfsLayer |
7
|