Schmid metaphyseal chondrodysplasia
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
long bones
|
| gptkbp:causedBy |
mutation in COL10A1 gene
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Schmid metaphyseal chondrodysplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:namedAfter |
Otto Schmid
|
| gptkbp:OMIM |
156500
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
short stature
bowed legs metaphyseal irregularities waddling gait |
| gptkbp:treatment |
orthopedic surgery
physical therapy |
| gptkbp:bfsParent |
gptkb:COL10A1
|
| gptkbp:bfsLayer |
7
|