Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
peripheral nervous system
|
| gptkbp:alternativeName |
CMT X1
Charcot-Marie-Tooth neuropathy X-linked 1 |
| gptkbp:associatedWith |
gptkb:GJB1
|
| gptkbp:disorderCategory |
gptkb:hereditary_spastic_paraplegia
|
| gptkbp:fullName |
Charcot-Marie-Tooth disease, X-linked type 1
|
| gptkbp:hasOMIMEntry |
302800
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMTX1
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
X-linked
X-linked dominant |
| gptkbp:mutationAssociatedWith |
gptkb:GJB1_gene
|
| gptkbp:OMIM |
302800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:bfsParent |
gptkb:GJB1
|
| gptkbp:bfsLayer |
7
|