Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

narcolepsy-cataplexy syndrome
Synonyms

narcoleptic syndrome

Gelineau syndrome

Gelineau disease

Gelineau's syndrome

narcolepsy type 1

narcolepsy with cataplexy

Gélineau disease

narcolepsy-cataplexy syndrome

Definitions

A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). This term is also known as narcolepsy type 1 and is different from the hereditary form, narcolepsy 1 (MONDO:0008062).

ID

http://purl.obolibrary.org/obo/MONDO_0016158

comment

This term is also known as narcolepsy type 1 and is different from the hereditary form, narcolepsy 1 (MONDO:0008062).

closeMatch

http://identifiers.org/meddra/10028713

database_cross_reference

ICD10CM:G47.4

icd11.foundation:1851015159

UMLS:C0751362

MedDRA:10028713

Orphanet:2073

ICD10CM:G47.419

MEDGEN:199638

GARD:7162

ICD9:347.0

definition

A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

exactMatch

http://purl.bioontology.org/ontology/ICD10CM/G47.4

http://linkedlifedata.com/resource/umls/id/C0751362

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1851015159

http://purl.obolibrary.org/obo/Orphanet_2073

http://identifiers.org/medgen/199638

gwas_trait

true

has_exact_synonym

Gelineau syndrome

Gelineau disease

Gelineau's syndrome

narcolepsy type 1

narcolepsy with cataplexy

Gélineau disease

narcolepsy-cataplexy syndrome

has_related_synonym

narcoleptic syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/7264

id

MONDO:0016158

in_subset

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

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

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

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

narcolepsy-cataplexy syndrome

notation

MONDO:0016158

preferred label

narcolepsy-cataplexy syndrome

prefLabel

narcolepsy-cataplexy syndrome

see also

https://rarediseases.info.nih.gov/diseases/7162/narcolepsy

disjointWith

http://www.ebi.ac.uk/efo/EFO_0005855

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005774

http://purl.obolibrary.org/obo/MONDO_0021107

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