Charcot-Marie-Tooth neuropathy, axonal, type 2N
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
genetic disorder |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alternativeName |
gptkb:CMT2N
Charcot-Marie-Tooth disease type 2N |
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth neuropathy, axonal, type 2N
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:AARS_gene
|
| gptkbp:OMIM |
613287
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease,_axonal,_type_2N
|
| gptkbp:bfsLayer |
8
|