Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:associatedWith |
gptkb:AARS
|
| gptkbp:fullName |
Charcot-Marie-Tooth disease type 2N
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT2N
|
| gptkbp:inheritance |
dominant
autosomal dominant |
| gptkbp:mutationAssociatedWith |
gptkb:AARS_gene
|
| gptkbp:OMIM |
613287
|
| gptkbp:onset |
childhood to adulthood
|
| gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease
gptkb:CMT2 |
| gptkbp:symptom |
muscle atrophy
muscle weakness distal sensory loss |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease,_axonal,_type_2N
|
| gptkbp:bfsLayer |
8
|