Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder skeletal dysplasia |
| gptkbp:affects |
epiphyses of long bones
|
| gptkbp:alsoKnownAs |
gptkb:multiple_epiphyseal_dysplasia
|
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| gptkbp:firstDescribed |
1935
|
| gptkbp:hasOrphanetID |
ORPHA:2152
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fairbank's disease
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:COL9A1_gene
gptkb:COL9A2_gene gptkb:COL9A3_gene gptkb:COMP_gene gptkb:MATN3_gene |
| gptkbp:namedAfter |
gptkb:Harold_Arthur_Thomas_Fairbank
|
| gptkbp:OMIM |
132400
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
short stature
joint pain early-onset osteoarthritis |
| gptkbp:treatment |
physical therapy
joint replacement surgery symptomatic management |
| gptkbp:bfsParent |
gptkb:Harold_Arthur_Thomas_Fairbank
|
| gptkbp:bfsLayer |
8
|