Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

hereditary spastic paraplegia
Synonyms

familial spastic paraparesis

FSP

spastic paraplegia

familial spastic paraplegia

Strümpell-Lorrain disease

SPG

hereditary spastic paraparesis

HSP

Strumpell-Lorrain disease

French settlement disease

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

closeMatch

http://identifiers.org/meddra/10019903

database_cross_reference

MedDRA:10019903

ICD9:334.1

ICD10CM:G11.4

NORD:1238

NCIT:C140267

SCTID:39912006

OMIMPS:303350

GARD:6637

icd11.foundation:810807375

Orphanet:685

DOID:2476

MESH:D015419

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.

disease has feature

http://purl.obolibrary.org/obo/HP_0001257

http://purl.obolibrary.org/obo/HP_0010550

exactMatch

http://identifiers.org/snomedct/39912006

http://identifiers.org/mesh/D015419

https://omim.org/phenotypicSeries/PS303350

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

http://purl.obolibrary.org/obo/Orphanet_685

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

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

has_broad_synonym

spastic paraplegia

has_exact_synonym

familial spastic paraplegia

Strümpell-Lorrain disease

SPG

hereditary spastic paraparesis

HSP

Strumpell-Lorrain disease

French settlement disease

has_related_synonym

familial spastic paraparesis

FSP

IAO_0000233

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

id

MONDO:0019064

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

hereditary spastic paraplegia

notation

MONDO:0019064

prefLabel

hereditary spastic paraplegia

seeAlso

https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia

treeView

http://purl.obolibrary.org/obo/MONDO_0024237

http://purl.obolibrary.org/obo/MONDO_0100546

http://purl.obolibrary.org/obo/MONDO_0003757

subClassOf

http://purl.obolibrary.org/obo/MONDO_0024237

http://purl.obolibrary.org/obo/MONDO_0100546

http://purl.obolibrary.org/obo/MONDO_0003757

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019064 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019064 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019064 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019064 KTAO SAME_URI
http://purl.bioontology.org/ontology/RCTV2/F141.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD9CM/334.1 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD10/G11.4 ICD10 LOOM
http://purl.obolibrary.org/obo/MONDO_0019064 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019064 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019064 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019064 KTAO LOOM
http://purl.bioontology.org/ontology/RCD/F141. RCD LOOM
http://purl.obolibrary.org/obo/Hereditary_Spastic_Paraplegia NND_ND LOOM
http://purl.bioontology.org/ontology/SNMI/DA-22014 SNMI LOOM
http://purl.obolibrary.org/obo/DOID_2476 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2476 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2476 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2476 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2476 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2476 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0037773 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_1200052 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019903 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_655 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/39912006 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C140267 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_685 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C140267 BERO LOOM
http://purl.bioontology.org/ontology/ICD10CM/G11.4 ICD10CM LOOM