Experimental Factor Ontology - Gerstmann-Straussler-Scheinker syndrome - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: January 16, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0007656 http://purl.obolibrary.org/obo/MONDO_0007656
Preferred Name	Gerstmann-Straussler-Scheinker syndrome
Definitions	A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
Synonyms	amyloidosis, cerebral, with spongiform encephalopathy amyloidosis cerebral with spongiform encephalopathy encephalopathy subacute spongiform Gerstmann-Straussler type cerebellar ataxia, progressive dementia, and amyloid deposits in CNS cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system cerebral amyloid angiopathy, Prnp-related Gerstmann Straussler Scheinker syndrome encephalopathy, Subacute spongiform, Gerstmann-Straussler type Gerstmann-Straussler disease GSD Gerstmann-Straussler-Scheinker disease subacute spongiform encephalopathy, Gerstmann-Straussler type prion dementia See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
preferred label	Gerstmann-Straussler-Scheinker syndrome
label	Gerstmann-Straussler-Scheinker syndrome
prefLabel	Gerstmann-Straussler-Scheinker syndrome
exactMatch	http://purl.obolibrary.org/obo/NCIT_C84727 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/406818835 http://www.orpha.net/ORDO/Orphanet_356 http://linkedlifedata.com/resource/umls/id/C0017495 https://omim.org/entry/137440 http://identifiers.org/mesh/C535800 http://identifiers.org/medgen/4886 http://purl.bioontology.org/ontology/ICD10CM/A81.82 http://identifiers.org/snomedct/67155006 http://purl.obolibrary.org/obo/DOID_4249 See more See less
database_cross_reference	NCIT:C84727 ICD10CM:A81.82 icd11.foundation:406818835 NANDO:1200190 MESH:C535800 ICD9:046.71 MEDGEN:4886 SCTID:67155006 OMIM:137440 MedDRA:10072075 Orphanet:356 UMLS:C0017495 DOID:4249 GARD:7690 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6671
notation	MONDO:0007656
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare See more See less
has_related_synonym	amyloidosis, cerebral, with spongiform encephalopathy amyloidosis cerebral with spongiform encephalopathy encephalopathy subacute spongiform Gerstmann-Straussler type cerebellar ataxia, progressive dementia, and amyloid deposits in CNS cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system cerebral amyloid angiopathy, Prnp-related Gerstmann Straussler Scheinker syndrome encephalopathy, Subacute spongiform, Gerstmann-Straussler type Gerstmann-Straussler disease GSD See more See less
id	MONDO:0007656
subClassOf	http://www.ebi.ac.uk/efo/EFO_0004720 http://purl.obolibrary.org/obo/MONDO_0100545
closeMatch	http://identifiers.org/meddra/10072075
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	Gerstmann-Straussler-Scheinker disease subacute spongiform encephalopathy, Gerstmann-Straussler type prion dementia

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