loading...| Preferred Name | Kleine-Levin Syndrome | |
| Synonyms |
familial Kleine-Levin syndrome Kleine Levin syndrome familial hibernation syndrome Kleine-LEVIN hibernation syndrome Kleine-Levin syndrome |
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| Definitions |
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances. A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569) |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001354 |
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| database_cross_reference |
NCIt:C84800 MESH:D017593 MONDO:0007863 MEDGEN:61511 icd11.foundation:1180849398 SCTID:111488004 MedDRA:10053712 DOID:0060165 MedDRA:10053742 Orphanet:33543 SNOMEDCT:111488004 ORDO:Orphanet_33543 OMIM:148840 MeSH:D017593 NCIT:C84800 UMLS:C0206085 DOID:60165 GARD:3117 NORD:1334 |
|
| definition |
Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances. A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569) |
|
| gwas_trait |
true |
|
| has_exact_synonym |
Kleine-Levin syndrome |
|
| has_related_synonym |
familial Kleine-Levin syndrome Kleine Levin syndrome familial hibernation syndrome Kleine-LEVIN hibernation syndrome |
|
| id |
EFO:1001354 |
|
| 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#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Kleine-Levin Syndrome |
|
| notation |
EFO:1001354 |
|
| preferred label |
Kleine-Levin Syndrome |
|
| prefLabel |
Kleine-Levin Syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/111488004 http://purl.obolibrary.org/obo/DOID_0060165 http://purl.obolibrary.org/obo/NCIT_C84800 http://identifiers.org/mesh/D017593 http://purl.obolibrary.org/obo/EFO_1001354 http://linkedlifedata.com/resource/umls/id/C0206085 http://identifiers.org/medgen/61511 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1180849398 |
|
| term editor |
Dani Welter |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0004617 |