Charcot-Marie-Tooth disease, axonal, type 2N
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Charcot-Marie-Tooth_disease
genetic disorder |
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
gptkb:CMT2N
gptkb:Charcot-Marie-Tooth_neuropathy,_axonal,_type_2N |
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease, axonal, type 2N
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:AARS_gene
|
| gptkbp:OMIM |
613287
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:symptom |
muscle weakness
sensory loss distal muscle atrophy foot deformities |
| gptkbp:bfsParent |
gptkb:AARS
|
| gptkbp:bfsLayer |
7
|