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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Kleine-Levin syndrome
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Accession:DOID:0060165 term browser browse the term
Definition:A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO)
Synonyms:exact_synonym: Familial Kleine Levin Syndrome;   Kleine Levin Critchley Syndrome;   Kleine Levin Hibernation Syndrome;   Periodic Hypersomnia;   familial hibernation (Kleine-Levin) syndrome;   periodic hypersomnias
 primary_id: MESH:D017593
 alt_id: MIM:148840
 xref: EFO:1001354


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Kleine-Levin syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      Kleine-Levin syndrome 4
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              sleep disorder 156
                Dyssomnias 132
                  Intrinsic Sleep Disorders 105
                    recurrent hypersomnia 23
                      Kleine-Levin syndrome 4
paths to the root