Statements (19)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
|
gptkbp:associatedWith |
neurodegeneration
axonal degeneration |
gptkbp:category |
rare disease
|
gptkbp:disorderGroup |
gptkb:Hereditary_spastic_paraplegia
|
gptkbp:gene |
gptkb:SPAST
|
https://www.w3.org/2000/01/rdf-schema#label |
ORPHA399
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:name |
gptkb:Hereditary_spastic_paraplegia_type_4
|
gptkbp:OMIM |
182601
|
gptkbp:onset |
childhood
adulthood |
gptkbp:OrphanetURL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=399
|
gptkbp:prevalence |
1-9 / 100,000
|
gptkbp:symptom |
progressive spasticity of lower limbs
weakness of lower limbs |
gptkbp:synonym |
gptkb:SPG4
|
gptkbp:bfsParent |
gptkb:Creutzfeldt-Jakob_disease
|
gptkbp:bfsLayer |
6
|