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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: OMIM:148840
 xref: EFO:1001354


show annotations for term's descendants           Sort by:
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 (CH) domain containing 2 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:146,253,376...146,337,198
Ensembl chr  X:146,253,371...146,337,077 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr 9:109,758,909...109,913,018
Ensembl chr 9:109,760,528...109,913,023 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:28492532 NCBI chr 6:115,931,772...115,972,300
Ensembl chr 6:115,931,772...115,971,966 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Kleine-Levin syndrome 4
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              sleep disorder 152
                Dyssomnias 128
                  Intrinsic Sleep Disorders 103
                    recurrent hypersomnia 22
                      Kleine-Levin syndrome 4
paths to the root