Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Guillain-Barre syndrome, familial
Synonyms

polyneuropathy, inflammatory demyelinating, acute

AIDP

Guillain-Barre syndrome, familial

neuropathy, inflammatory demyelinating

GBS
Definitions

A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.
ID

http://purl.obolibrary.org/obo/MONDO_0007691
has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym

polyneuropathy, inflammatory demyelinating, acute

AIDP

Guillain-Barre syndrome, familial

neuropathy, inflammatory demyelinating
has_related_synonym

GBS
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3467

https://github.com/monarch-initiative/mondo/issues/4521
label

Guillain-Barre syndrome, familial
prefixIRI

MONDO:0007691
prefLabel

Guillain-Barre syndrome, familial
textual definition

A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0016218
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