Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Charcot-Marie-Tooth_disease
genetic disorder |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:associatedWith |
gptkb:EGR2
|
| gptkbp:category |
gptkb:hereditary_spastic_paraplegia
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT1D
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:EGR2
|
| gptkbp:namedAfter |
gptkb:Marie
gptkb:Charcot Tooth |
| gptkbp:OMIM |
607678
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:bfsParent |
gptkb:EGR2
|
| gptkbp:bfsLayer |
7
|