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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:recurrent hypersomnia
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Accession:DOID:8619 term browser browse the term
Definition:A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. (DO)
Synonyms:exact_synonym: DOES (Disorders of Excessive Somnolence);   Excessive Somnolence Disorder;   Hypersomnia;   Hypersomnias;   Hypersomnolence;   Hypersomnolence Disorder;   Hypersomnolence Disorders;   Primary Hypersomnolence Disorder;   Primary Hypersomnolence Disorders;   Recurrent Hypersomnias;   disorders of excessive somnolence;   excessive somnolence disorders;   primary recurrent hypersomnia;   secondary hypersomnolence disorder
 primary_id: MESH:D006970
 xref: EFO:0005246;   ICD10CM:G47.13;   ICD9CM:327.13
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
recurrent hypersomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chkb choline kinase beta susceptibility ISO DNA:SNP: :rs5770917 (human) RGD PMID:19404393 RGD:6483442 NCBI chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy		 OMIM
CTD
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
Cataplexy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 ISO RGD PMID:15128861 RGD:1358427 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
Cataplexy and Narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif3g eukaryotic translation initiation factor 3, subunit G ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 9:20,805,645...20,809,886
Ensembl chr 9:20,805,645...20,809,919 		JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 9:20,799,471...20,803,475
Ensembl chr 9:20,799,471...20,803,474 		JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
Kleine-Levin syndrome term browser
Symbol Object Name Qualifiers 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
narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:21669245 RGD:11352261 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Chkb choline kinase beta susceptibility ISO DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18820697 PMID:18820697 RGD:6483443 NCBI chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1b, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr15:89,300,608...89,310,065
Ensembl chr15:89,300,608...89,310,066 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hcrt hypocretin no_association IAGP
ISO		 OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)		 MouseDO
RGD		 PMID:11723284 RGD:1600923 NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757 		JBrowse link
G Hcrtr2 hypocretin (orexin) receptor 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250		 CTD
MouseDO		 PMID:17521418 NCBI chr 9:76,133,162...76,230,905
Ensembl chr 9:76,133,162...76,231,138 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290 		JBrowse link
G Penk preproenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr10:95,219,765...95,253,176
Ensembl chr10:95,221,224...95,253,042 		JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631 		JBrowse link
Narcolepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcrt hypocretin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Narcolepsy 1		 OMIM
CTD
ClinVar		 PMID:10973318 NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757 		JBrowse link
Narcolepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mog myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Narcolepsy 7 OMIM
ClinVar		 PMID:21907016 PMID:25741868 NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        Neurologic Manifestations 9788
          sleep disorder 152
            Dyssomnias 128
              Intrinsic Sleep Disorders 103
                recurrent hypersomnia 22
                  Hyper-Beta-Alaninemia 0
                  Idiopathic Hypersomnolence 2
                  Kleine-Levin syndrome 4
                  narcolepsy + 18
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      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
                      Hyper-Beta-Alaninemia 0
                      Idiopathic Hypersomnolence 2
                      Kleine-Levin syndrome 4
                      narcolepsy + 18
paths to the root