loading...| Preferred Name | hereditary spastic paraplegia | |
| Synonyms |
familial spastic paraparesis FSP spastic paraplegia familial spastic paraplegia Strümpell-Lorrain disease hereditary spastic paraparesis Strumpell-Lorrain disease French settlement disease HSP SPG |
|
| Definitions |
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019064 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019064 |
|
| database_cross_reference |
icd11.foundation:810807375 MESH:D015419 MedDRA:10019903 NCIT:C140267 Orphanet:685 NANDO:1200052 UMLS:C0037773 MEDGEN:20844 SCTID:39912006 ICD10CM:G11.4 OMIMPS:303350 DOID:2476 GARD:6637 ICD9:334.1 NORD:1238 |
|
| definition |
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. |
|
| has_broad_synonym |
spastic paraplegia |
|
| has_exact_synonym |
familial spastic paraplegia Strümpell-Lorrain disease hereditary spastic paraparesis Strumpell-Lorrain disease French settlement disease HSP SPG |
|
| has_related_synonym |
familial spastic paraparesis FSP |
|
| IAO_0000233 | ||
| id |
MONDO:0019064 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hereditary spastic paraplegia |
|
| notation |
MONDO:0019064 |
|
| preferred label |
hereditary spastic paraplegia |
|
| prefLabel |
hereditary spastic paraplegia |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/39912006 http://identifiers.org/mesh/D015419 http://linkedlifedata.com/resource/umls/id/C0037773 https://omim.org/phenotypicSeries/PS303350 http://purl.obolibrary.org/obo/DOID_2476 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/810807375 http://identifiers.org/medgen/20844 http://purl.obolibrary.org/obo/Orphanet_685 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0009679 |