ORPHA399

GPTKB entity

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