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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: 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 chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176
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 ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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 chr 7:113,611,566...113,645,835
Ensembl chr 7:113,608,783...113,645,841
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 chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990
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 2:68,966,221...68,970,648
Ensembl chr 2:68,966,222...68,970,614
JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 2:68,962,996...68,966,224
Ensembl chr 2:68,962,939...68,966,498
JBrowse link
G PPAN peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 2:68,958,906...68,962,657
Ensembl chr 2:68,958,906...68,962,657
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:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709
JBrowse link
G CHKB choline kinase beta susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)
CTD
RGD
PMID:18820697 RGD:6483443 NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531
JBrowse link
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 5:89,257,603...89,480,414
Ensembl chr 5:89,267,944...89,479,712
JBrowse link
G HCRT hypocretin neuropeptide precursor no_association ISO mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)
RGD
MouseDO
PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988
JBrowse link
G HCRTR2 hypocretin receptor 2 ISO CTD Direct Evidence: marker/mechanism
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
Narcolepsy
CTD
MouseDO
OMIA
PMID:72649 PMID:562026 PMID:574310 PMID:945254 PMID:1393561 More... NCBI chr 7:25,830,544...25,929,640
Ensembl chr 7:25,826,298...25,929,702
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,510...22,610,817
JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr 2:68,962,996...68,966,224
Ensembl chr 2:68,962,939...68,966,498
JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:75,525,497...75,530,403
Ensembl chr 4:75,525,555...75,530,876
JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493
JBrowse link
Narcolepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCRT hypocretin neuropeptide precursor ISO ClinVar Annotator: match by term: Narcolepsy 1 OMIM
ClinVar
PMID:10973318 NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988
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 chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,510...22,610,817
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14224
      nervous system disease 12092
        Neurologic Manifestations 5849
          sleep disorder 140
            Dyssomnias 115
              Intrinsic Sleep Disorders 92
                recurrent hypersomnia 16
                  Hyper-Beta-Alaninemia 0
                  Idiopathic Hypersomnolence 0
                  Kleine-Levin syndrome 0
                  narcolepsy + 16
Path 2
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14224
      nervous system disease 12092
        central nervous system disease 10561
          brain disease 9908
            disease of mental health 7130
              sleep disorder 140
                Dyssomnias 115
                  Intrinsic Sleep Disorders 92
                    recurrent hypersomnia 16
                      Hyper-Beta-Alaninemia 0
                      Idiopathic Hypersomnolence 0
                      Kleine-Levin syndrome 0
                      narcolepsy + 16
paths to the root