multiple epiphyseal dysplasia
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
epiphyses of long bones
|
| gptkbp:cause |
mutations in COL9A1 gene
mutations in COL9A2 gene mutations in COL9A3 gene mutations in COMP gene mutations in MATN3 gene |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| gptkbp:firstDescribed |
1937
|
| gptkbp:hasOrphanetID |
ORPHA:792
|
| https://www.w3.org/2000/01/rdf-schema#label |
multiple epiphyseal dysplasia
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
132400
|
| gptkbp:otherName |
gptkb:Fairbank_disease
|
| gptkbp:symptom |
short stature
joint pain early-onset osteoarthritis joint stiffness |
| gptkbp:treatment |
physical therapy
pain management joint replacement surgery |
| gptkbp:bfsParent |
gptkb:Robert_Reich
|
| gptkbp:bfsLayer |
5
|