Charcot-Marie-Tooth disease type 2F
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:hereditary_spastic_paraplegia
rare disease muscular dystrophy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:associatedWith |
peripheral neuropathy
|
| gptkbp:firstDescribed |
2004
|
| gptkbp:hasOrphanetID |
ORPHA:101011
|
| https://www.w3.org/2000/01/rdf-schema#label |
Charcot-Marie-Tooth disease type 2F
|
| gptkbp:ICD-10_code |
gptkb:G60.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:HSPB1_gene
|
| gptkbp:OMIM |
606595
|
| gptkbp:onset |
adulthood
|
| gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease_type_2
|
| gptkbp:symptom |
muscle atrophy
muscle weakness distal sensory loss |
| gptkbp:bfsParent |
gptkb:HSP27
|
| gptkbp:bfsLayer |
7
|