spondyloepimetaphyseal dysplasia
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
bones
|
| gptkbp:characterizedBy |
short stature
spinal abnormalities joint problems abnormal bone growth |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| https://www.w3.org/2000/01/rdf-schema#label |
spondyloepimetaphyseal dysplasia
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:COL2A1_gene
ACAN gene |
| gptkbp:subspecies |
Aggrecan type
Pakistani type Strudwick type |
| gptkbp:symptom |
joint pain
curvature of the spine early-onset arthritis limited joint mobility |
| gptkbp:treatment |
orthopedic surgery
physical therapy symptomatic management |
| gptkbp:bfsParent |
gptkb:MATN3_gene
|
| gptkbp:bfsLayer |
8
|