Statements (42)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:causedBy |
mutation in various genes
|
| gptkbp:citation |
DOID:10652
ICD-10:G11.4 MIM:182600 MeSH:D020754 MedDRA:10019913 OMIM:182600 OMIM:270800 OMIM:312920 SNOMEDCT:230744007 UMLS:C0026848 |
| gptkbp:disorderGroup |
motor neuron disease
hereditary ataxia rare neurologic disease |
| gptkbp:hasClinicalCourse |
chronic
|
| gptkbp:hasOrphanetURL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
|
| gptkbp:hasType |
complex form
pure form |
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:324
|
| gptkbp:ICD-10_code |
G11.4
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:name |
gptkb:Hereditary_spastic_paraplegia
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:ORPHAcode |
324
|
| gptkbp:prevalence |
1-9 / 100,000
|
| gptkbp:symptom |
bladder dysfunction
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:treatment |
orthopedic surgery
physiotherapy symptomatic management antispastic drugs |
| gptkbp:bfsParent |
gptkb:Wilms_tumor
|
| gptkbp:bfsLayer |
6
|