Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
|
gptkbp:affects |
peripheral nervous system
|
gptkbp:associatedWith |
gptkb:MPZ
gptkb:LITAF gptkb:EGR2 gptkb:GJB1 gptkb:PMP22 |
gptkbp:cause |
demyelination of peripheral nerves
|
gptkbp:fullName |
gptkb:Charcot-Marie-Tooth_disease_type_1
|
https://www.w3.org/2000/01/rdf-schema#label |
CMT1
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:namedAfter |
gptkb:Pierre_Marie
gptkb:Jean-Martin_Charcot gptkb:Howard_Henry_Tooth |
gptkbp:OMIM |
118200
|
gptkbp:onset |
childhood
adolescence |
gptkbp:prevalence |
1 in 2,500
|
gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease
|
gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
gptkbp:treatment |
occupational therapy
physical therapy orthopedic devices |
gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
gptkbp:bfsLayer |
6
|