Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:category |
rare disease
muscular dystrophy |
| gptkbp:cause |
genetic disorder
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:447
|
| gptkbp:ICD-10_code |
G11.4
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:MeSH_ID |
D020754
|
| gptkbp:name |
gptkb:Hereditary_spastic_paraplegia
|
| gptkbp:OMIM |
182600
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:OrphanetURL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=447
|
| gptkbp:prevalence |
1-9 / 100,000
|
| gptkbp:symptom |
bladder dysfunction
sensory loss progressive spasticity of lower limbs weakness of lower limbs |
| gptkbp:synonym |
gptkb:Familial_spastic_paraplegia
gptkb:Lorrain_disease gptkb:Strümpell-Lorrain_disease gptkb:Strümpell_disease |
| gptkbp:UMLS_CUI |
C0026838
|
| gptkbp:bfsParent |
gptkb:glioblastoma
|
| gptkbp:bfsLayer |
5
|