Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
epiphyses of long bones
|
| gptkbp:alsoKnownAs |
gptkb:multiple_epiphyseal_dysplasia
|
| gptkbp:diagnosedBy |
radiographic imaging
|
| gptkbp:firstDescribed |
gptkb:Fairbank_TJ
1935 |
| https://www.w3.org/2000/01/rdf-schema#label |
Fairbanks disease
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL9A1_gene
gptkb:COL9A2_gene gptkb:COL9A3_gene gptkb:COMP_gene gptkb:MATN3_gene |
| gptkbp:OMIM |
132400
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
short stature
joint pain early-onset osteoarthritis |
| gptkbp:treatment |
joint replacement surgery
symptomatic management |
| gptkbp:bfsParent |
gptkb:Charles_Leo_Fairbanks
|
| gptkbp:bfsLayer |
6
|