Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Fibrodysplasia Ossificans Progressiva
|
| gptkbp:affects |
gptkb:skeletal_muscle
ligaments tendons muscles |
| gptkbp:cause |
mutation in ACVR1 gene
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:field |
gptkb:medicine
genetics |
| gptkbp:firstDescribed |
1692
|
| gptkbp:fullName |
Fibrodysplasia Ossificans Progressiva
|
| gptkbp:hasOrphanetID |
178
|
| https://www.w3.org/2000/01/rdf-schema#label |
FOP
|
| gptkbp:ICD-10_code |
M61.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:notableCase |
Harry Eastlack
|
| gptkbp:OMIM |
135100
|
| gptkbp:otherName |
Stone Man Syndrome
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
malformation of big toes
progressive ossification of soft tissues |
| gptkbp:treatment |
supportive care
no cure |
| gptkbp:bfsParent |
gptkb:Apache_XML_Project
gptkb:Fraternal_Order_of_Police |
| gptkbp:bfsLayer |
7
|