Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:associatedWith |
bladder dysfunction
progressive gait disturbance |
| gptkbp:disorderCategory |
gptkb:hereditary_spastic_paraplegia
neurodegenerative disease |
| gptkbp:gene |
gptkb:SPAST
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA774
|
| 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=774
|
| gptkbp:prevalence |
1-9/100,000
|
| gptkbp:symptom |
spasticity
hyperreflexia lower limb weakness |
| gptkbp:synonym |
gptkb:SPG4
|
| gptkbp:bfsParent |
gptkb:hereditary_hemorrhagic_telangiectasia
|
| gptkbp:bfsLayer |
6
|