Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:disorder_group |
gptkb:Hereditary_spastic_paraplegia
|
| gptkbp:gene |
gptkb:SPAST
|
| gptkbp:hasClinicalFeature |
bladder dysfunction
hyperreflexia progressive spasticity of lower limbs |
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:636
|
| gptkbp:ICD-10_code |
G11.4
|
| gptkbp:inheritance |
autosomal dominant
rarely autosomal recessive |
| gptkbp:mode_of_inheritance |
autosomal dominant
|
| gptkbp:name |
gptkb:Hereditary_spastic_paraplegia_type_4
|
| gptkbp:OMIM |
182601
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:Orphanet_URL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=636
|
| gptkbp:prevalence |
1-9 / 100,000
|
| gptkbp:synonym |
gptkb:SPG4
Spastic paraplegia 4 |
| gptkbp:UMLS_CUI |
C1845052
|
| gptkbp:bfsParent |
gptkb:NLSD_with_myopathy
|
| gptkbp:bfsLayer |
8
|