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hereditary spastic paraplegia

Go to external page http://purl.obolibrary.org/obo/MONDO_0019064

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 ]

Synonyms: French settlement disease HSP Strümpell-Lorrain disease familial spastic paraplegia Strumpell-Lorrain disease hereditary spastic paraparesis SPG

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:1200052 (https://orcid.org/0000-0003-0011-764X)
  • MedDRA:10019903 (Orphanet:685/e)
  • SCTID:39912006 (MONDO:equivalentTo)
  • DOID:2476 (MONDO:equivalentTo)
  • ICD9:334.1 (MONDO:i2s)
  • NORD:1238 (MONDO:NORD)
  • icd11.foundation:810807375 (Orphanet:685)
  • UMLS:C0037773 (MONDO:equivalentTo)
  • GARD:6637 (MONDO:GARD)
  • MESH:D015419 (MONDO:equivalentTo)
  • MEDGEN:20844 (MONDO:equivalentTo)
  • OMIMPS:303350 (MONDO:equivalentTo)
  • Orphanet:685 (MONDO:equivalentTo)
  • NCIT:C140267 (MONDO:equivalentTo)
  • ICD10CM:G11.4 (Orphanet:685/specific)
Subsets

gard_rare, matrix_llm__is_cancer_other, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, icd10_billable, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders

abbreviation
HSP [ Orphanet:685 ]

abbreviation
SPG [ Orphanet:685 ]

abbreviation
FSP [ GARD:0006637 ]

closeMatch

http://identifiers.org/meddra/10019903

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0019064

exactMatch

http://www.orpha.net/ORDO/Orphanet_685

http://linkedlifedata.com/resource/umls/id/C0037773

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/810807375

http://purl.bioontology.org/ontology/ICD10CM/G11.4

https://omim.org/phenotypicSeries/PS303350

http://purl.obolibrary.org/obo/DOID_2476

http://purl.obolibrary.org/obo/NCIT_C140267

http://identifiers.org/mesh/D015419

http://identifiers.org/snomedct/39912006

http://identifiers.org/medgen/20844

has broad synonym

spastic paraplegia

has related synonym

FSP

familial spastic paraparesis

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/5952