Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. [ Orphanet : 685 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:2476 (MONDO:equivalentTo)
  • OMIMPS:303350 (MONDO:equivalentTo)
  • GARD:0006637 (MONDO:equivalentTo)
  • ICD9:334.1 (MONDO:i2s)
  • SCTID:39912006 (MONDO:equivalentTo)
  • NCIT:C140267 (MONDO:equivalentTo)
  • ICD10CM:G11.4 (Orphanet:685/specific)
  • Orphanet:685 (MONDO:equivalentTo)
  • MESH:D015419 (MONDO:equivalentTo)
  • MedDRA:10019903 (Orphanet:685/e)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
FSP [ GARD : 0006637 ]
abbreviation
HSP [ Orphanet : 685 ]
abbreviation
SPG [ Orphanet : 685 ]
closeMatch
  • http://identifiers.org/meddra/10019903
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.
exactMatch
  • https://omim.org/phenotypicSeries/PS303350
  • http://www.orpha.net/ORDO/Orphanet_685
  • http://purl.obolibrary.org/obo/NCIT_C140267
  • http://identifiers.org/mesh/D015419
  • http://purl.obolibrary.org/obo/DOID_2476
  • http://purl.bioontology.org/ontology/ICD10CM/G11.4
  • http://identifiers.org/snomedct/39912006
has broad synonym
  • spastic paraplegia
has exact synonym
  • familial spastic paraplegia
  • HSP
  • French settlement disease
  • Strümpell-Lorrain disease
  • SPG
  • hereditary spastic paraparesis
  • Strumpell-Lorrain disease
has related synonym
  • familial spastic paraparesis
  • FSP
id
  • MONDO:0019064
seeAlso
  • https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml