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.



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 chr22:30,825,128...30,829,203
Ensembl chr22:49,936,470...49,940,625
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 chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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 chr14:72,693,446...72,741,772 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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 chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
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 chr19:9,663,525...9,668,475
Ensembl chr19:10,324,063...10,328,960
JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:9,659,930...9,663,901 JBrowse link
G PPAN peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:9,654,770...9,659,792
Ensembl chr19:10,315,443...10,320,207
JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
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 chr22:30,825,128...30,829,203
Ensembl chr22:49,936,470...49,940,625
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr22:30,815,073...30,825,341
Ensembl chr22:49,926,893...49,935,420
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:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
RGD
MouseDO
PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chr17:15,130,581...15,132,024
Ensembl chr17:15,353,203...15,354,594
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 6:54,722,279...54,835,963
Ensembl chr 6:56,327,340...56,469,901
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11179016 PMID:20711174 RGD:5147861 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:29,461,174...29,476,362
Ensembl chr 6:30,119,599...30,134,152
JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr19:9,659,930...9,663,901 JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 8:52,864,388...52,870,144
Ensembl chr 8:50,234,170...50,239,949
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748
JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736
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 chr17:15,130,581...15,132,024
Ensembl chr17:15,353,203...15,354,594
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 6:29,461,174...29,476,362
Ensembl chr 6:30,119,599...30,134,152
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14685
    disease of anatomical entity 14400
      nervous system disease 12239
        Neurologic Manifestations 5921
          sleep disorder 141
            Dyssomnias 116
              Intrinsic Sleep Disorders 92
                recurrent hypersomnia 18
                  Hyper-Beta-Alaninemia 0
                  Idiopathic Hypersomnolence 1
                  Kleine-Levin syndrome 0
                  narcolepsy + 18
Path 2
Term Annotations click to browse term
  disease 14685
    disease of anatomical entity 14400
      nervous system disease 12239
        central nervous system disease 10685
          brain disease 10025
            disease of mental health 7230
              sleep disorder 141
                Dyssomnias 116
                  Intrinsic Sleep Disorders 92
                    recurrent hypersomnia 18
                      Hyper-Beta-Alaninemia 0
                      Idiopathic Hypersomnolence 1
                      Kleine-Levin syndrome 0
                      narcolepsy + 18
paths to the root