Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
collagen
bone development |
| gptkbp:characterizedBy |
short stature
hearing loss myopia joint stiffness cleft palate short trunk |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Wilhelm_Kniest
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kniest dysplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL2A1_gene
|
| gptkbp:namedAfter |
gptkb:Wilhelm_Kniest
|
| gptkbp:OMIM |
156550
|
| gptkbp:prevalence |
rare
|
| gptkbp:radiographicFeatures |
dumbbell-shaped long bones
irregular epiphyses platyspondyly |
| gptkbp:relatedTo |
spondyloepiphyseal dysplasia
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:James_Kniest
|
| gptkbp:bfsLayer |
6
|