Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:bone
genetic disorder |
| gptkbp:affects |
metaphyses of long bones
|
| gptkbp:diagnosedBy |
radiographic imaging
|
| https://www.w3.org/2000/01/rdf-schema#label |
metaphyseal dysplasia
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
COL10A1 gene
MMP13 gene |
| gptkbp:subspecies |
Jansen type metaphyseal dysplasia
McKusick type metaphyseal dysplasia Schmid type metaphyseal dysplasia |
| gptkbp:symptom |
short stature
bone pain bowing of legs |
| gptkbp:treatment |
orthopedic surgery
supportive care |
| gptkbp:bfsParent |
gptkb:IMAGe_syndrome
|
| gptkbp:bfsLayer |
7
|