multicentric osteolysis nodulosis arthropathy
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
gptkb:skin
bones joints |
| gptkbp:alsoKnownAs |
MONA syndrome
|
| gptkbp:characterizedBy |
subcutaneous nodules
arthropathy progressive osteolysis |
| gptkbp:firstDescribed |
1968
|
| https://www.w3.org/2000/01/rdf-schema#label |
multicentric osteolysis nodulosis arthropathy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:MMP2_gene
|
| gptkbp:OMIM |
259600
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
bone pain
joint swelling joint contractures subcutaneous nodules |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:MMP2
|
| gptkbp:bfsLayer |
7
|