Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


GViewer not supported for the selected species.

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 chrNW_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758
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 chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
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 chrNW_004955438:14,405,415...14,443,457 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 chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899
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 chrNW_004955495:1,452,806...1,456,834
Ensembl chrNW_004955495:1,451,454...1,457,216
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 chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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 chrNW_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674
JBrowse link
G Hcrt hypocretin neuropeptide precursor no_association ISO DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)
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
mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined
RGD
MouseDO
PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chrNW_004955451:16,235,819...16,237,457
Ensembl chrNW_004955451:16,235,819...16,237,457
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 chrNW_004955411:970,892...1,010,138 JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955583:136,077...150,597
Ensembl chrNW_004955583:136,077...150,649
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004955454:15,425,712...15,426,685
Ensembl chrNW_004955454:15,426,017...15,426,685
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004955405:30,349,956...30,623,849
Ensembl chrNW_004955405:30,366,866...30,375,468
Ensembl chrNW_004955405:30,366,866...30,375,468
JBrowse link
G Tac1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004955432:13,991,647...13,999,665
Ensembl chrNW_004955432:13,991,414...13,999,728
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chrNW_004955429:17,487,275...17,489,385 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 chrNW_004955451:16,235,819...16,237,457
Ensembl chrNW_004955451:16,235,819...16,237,457
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 chrNW_004955583:136,077...150,597
Ensembl chrNW_004955583:136,077...150,649
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13486
    disease of anatomical entity 13221
      nervous system disease 11280
        Neurologic Manifestations 5478
          sleep disorder 134
            Dyssomnias 109
              Intrinsic Sleep Disorders 85
                recurrent hypersomnia 15
                  Hyper-Beta-Alaninemia 0
                  Idiopathic Hypersomnolence 0
                  Kleine-Levin syndrome 0
                  narcolepsy + 15
Path 2
Term Annotations click to browse term
  disease 13486
    disease of anatomical entity 13221
      nervous system disease 11280
        central nervous system disease 9870
          brain disease 9252
            disease of mental health 6626
              sleep disorder 134
                Dyssomnias 109
                  Intrinsic Sleep Disorders 85
                    recurrent hypersomnia 15
                      Hyper-Beta-Alaninemia 0
                      Idiopathic Hypersomnolence 0
                      Kleine-Levin syndrome 0
                      narcolepsy + 15
paths to the root