Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

Gerstmann-Straussler-Scheinker syndrome

Synonyms

PRION DEMENTIA

Definitions

OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_4249

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:A81.82

SNOMEDCT_US_2023_03_01:67155006

ICD9CM:046.71

OMIM:137440

UMLS_CUI:C0017495

MESH:D016098

GARD:7690

NCI:C84727

definition

A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.

has_exact_synonym

PRION DEMENTIA

Gerstmann-Straussler-Scheinker disease

has_obo_namespace

disease_ontology

id

DOID:4249

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

Gerstmann-Straussler-Scheinker syndrome

notation

DOID:4249

prefLabel

Gerstmann-Straussler-Scheinker syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_649

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