Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
Oculopharyngeal Muscular Dystrophy
|
| gptkbp:affects |
eyelids
muscles pharynx |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1915
|
| gptkbp:fullName |
Oculopharyngeal Muscular Dystrophy
|
| gptkbp:hasGeneticCause |
mutation in PABPN1 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
OPMD
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
ptosis
dysphagia proximal limb weakness |
| gptkbp:treatment |
swallowing therapy
gastrostomy surgical correction of ptosis |
| gptkbp:bfsParent |
gptkb:PAF_Base_Murid
|
| gptkbp:bfsLayer |
7
|