ORPHA729

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:associatedWith bladder dysfunction
lower limb spasticity
mild sensory loss
gptkbp:category rare disease
neurological disease
gptkbp:cause mutation in SPAST gene
gptkbp:gene gptkb:SPAST
https://www.w3.org/2000/01/rdf-schema#label ORPHA729
gptkbp:ICD-10_code G11.4
gptkbp:inheritance autosomal dominant
familial
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=729
gptkbp:prevalence 1-9 / 100,000
gptkbp:symptom progressive weakness
spasticity of lower limbs
gptkbp:synonym gptkb:SPG4
gptkbp:bfsParent gptkb:polycythemia_vera
gptkbp:bfsLayer 6