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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:Dyssomnias
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Accession:DOID:9002111 term browser browse the term
Definition:A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)
Synonyms:exact_synonym: Adjustment Sleep Disorder;   Adjustment Sleep Disorders;   Dyssomnia;   Environmental Sleep Disorder;   Environmental Sleep Disorders;   Extrinsic Sleep Disorder;   Extrinsic Sleep Disorders;   Limit Setting Sleep Disorder;   Limit-Setting Sleep Disorders;   Nocturnal Eating Drinking Syndrome;   Nocturnal Eating-Drinking Syndromes
 primary_id: MESH:D020920



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Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAI1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19752160 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861
JBrowse link
advanced sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AANAT aralkylamine N-acetyltransferase ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12736803 RGD:1300232 NCBI chr17:70,401,103...70,418,551
Ensembl chr17:75,951,915...75,967,411
JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 3:4,927,487...4,933,215
Ensembl chr 3:5,028,515...5,032,470
JBrowse link
G CRY1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:104,558,874...104,658,833
Ensembl chr12:107,954,262...108,052,484
JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 9:62,467,360...62,482,926
Ensembl chr 9:90,567,116...90,568,504
JBrowse link
G PER2 period circadian regulator 2 ISO familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G RGD PMID:11232563 RGD:1600411 NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040
JBrowse link
G PER3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 1:6,547,667...6,607,905
Ensembl chr 1:7,795,552...7,855,922
JBrowse link
G RORC RAR related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 1:127,164,725...127,190,479
Ensembl chr 1:130,808,705...130,834,490
JBrowse link
advanced sleep phase syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSNK1D casein kinase 1 delta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:76,648,677...76,683,054
Ensembl chr17:82,462,467...82,494,348
JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition OMIM
ClinVar
PMID:11232563 PMID:25741868 PMID:28492532 NCBI chr2B:125,477,021...125,521,577
Ensembl chr2B:244,328,122...244,371,040
JBrowse link
G PER3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:6,547,667...6,607,905
Ensembl chr 1:7,795,552...7,855,922
JBrowse link
advanced sleep phase syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSNK1D casein kinase 1 delta ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 OMIM
ClinVar
PMID:15800623 PMID:23636092 NCBI chr17:76,648,677...76,683,054
Ensembl chr17:82,462,467...82,494,348
JBrowse link
advanced sleep phase syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PER3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 | ClinVar Annotator: match by term: PER3-related condition OMIM
ClinVar
PMID:25741868 PMID:26903630 PMID:28492532 NCBI chr 1:6,547,667...6,607,905
Ensembl chr 1:7,795,552...7,855,922
JBrowse link
advanced sleep phase syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMELESS timeless circadian regulator ISO OMIM NCBI chr12:32,465,529...32,497,581
Ensembl chr12:32,718,649...32,750,728
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:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... 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
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr10:44,574,925...44,629,618 JBrowse link
G NOS3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018
JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:100,536,895...100,539,737
Ensembl chr12:103,932,302...103,932,999
JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr20:55,652,770...55,678,486
Ensembl chr20:57,012,926...57,038,570
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: GDNF-related condition ClinVar PMID:8896568 PMID:8896569 PMID:9215674 PMID:9359036 PMID:9497256 More... NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr 5:166,658,166...166,661,098
Ensembl chr 5:173,411,881...173,414,106
JBrowse link
Congenital Central Hypoventilation Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:100,536,895...100,539,737
Ensembl chr12:103,932,302...103,932,999
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM
PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449
JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO1H myosin IH ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar
PMID:25741868 PMID:28779001 NCBI chr12:106,965,514...107,025,380
Ensembl chr12:110,359,936...110,419,574
JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBX1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar
PMID:30487221 NCBI chr10:97,830,026...97,832,751 JBrowse link
delayed sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AANAT aralkylamine N-acetyltransferase ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar PMID:12736803 NCBI chr17:70,401,103...70,418,551
Ensembl chr17:75,951,915...75,967,411
JBrowse link
G CRY1 cryptochrome circadian regulator 1 susceptibility ISO ClinVar Annotator: match by term: CRY1-related condition | ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to OMIM
ClinVar
PMID:25741868 PMID:28388406 PMID:28492532 PMID:32538895 NCBI chr12:104,558,874...104,658,833
Ensembl chr12:107,954,262...108,052,484
JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr 8:24,218,510...24,224,627
Ensembl chr 8:21,134,533...21,140,694
JBrowse link
G PRNP prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Fatal familial insomnia ClinVar
OMIM
PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr20:4,713,616...4,728,847
Ensembl chr20:4,523,155...4,523,916
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
Intrinsic Sleep Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN3 endothelin 3 ISO congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon RGD PMID:8696331 RGD:1601002 NCBI chr20:55,652,770...55,678,486
Ensembl chr20:57,012,926...57,038,570
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 domain containing 2 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:104,201,087...104,324,505
Ensembl chr  X:114,717,260...114,828,080
JBrowse link
G MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr 3:47,763,379...47,995,457
Ensembl chr 3:48,858,544...49,020,950
JBrowse link
G MTMR8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:53,388,164...53,515,593
Ensembl chr  X:63,473,727...63,597,332
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:143,484,008...143,489,904 JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:126,613,065...126,664,643 JBrowse link
G RBMXL3 RBMX like 3 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:104,279,727...104,283,137 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
Narcolepsy
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
CTD
OMIA
MouseDO
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
obstructive sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G ACE angiotensin I converting enzyme susceptibility
severity
ISO DNA:polymorphism (human)
associated with Hypertension;DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium
RGD PMID:19482546 PMID:20182789 PMID:24775918 RGD:11039043 RGD:4140915 RGD:4140917 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ADORA1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
JBrowse link
G ADRB1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr10:110,642,491...110,646,595 JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity ISO mRNA:increased expression:faucial pillar, muscle (human) RGD PMID:20847078 RGD:4891917 NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
JBrowse link
G CRP C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr 4:50,357,643...50,359,822
Ensembl chr 4:56,189,961...56,192,402
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:67,412,410...67,469,366
Ensembl chr  X:77,524,455...77,525,468
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797
JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:myocardium (rat)
DNA:polymorphism:exon:p.K198N (human)
protein:increased secretion:plasma (human)
RGD PMID:17198911 PMID:18580062 PMID:19358946 RGD:4144901 RGD:4145067 RGD:4145075 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)
CTD
RGD
PMID:19358946 PMID:20083432 RGD:4145067 RGD:4892306 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497
JBrowse link
G GHRH growth hormone releasing hormone treatment ISO protein:decreased expression:plasma (human) RGD PMID:16750036 PMID:23815362 RGD:10401240 RGD:5687742 NCBI chr20:33,573,001...33,583,699
Ensembl chr20:34,687,587...34,693,240
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723
JBrowse link
G GHSR growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202
JBrowse link
G HCRT hypocretin neuropeptide precursor ISO protein:decreased expression:plasma:independent of level of somnolence or obesity RGD PMID:15627867 RGD:1600936 NCBI chr17:15,130,581...15,132,024
Ensembl chr17:15,353,203...15,354,594
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL1B interleukin 1 beta ISO protein:decreased expression:serum
protein:increased expression:plasma (rat)
RGD PMID:19342292 PMID:20040038 RGD:4142829 RGD:4142845 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LEP leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G LOC100986914 cytochrome b-245 light chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:19652426 PMID:20836084 RGD:5129212 RGD:5130877 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G NGF nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NOS2 nitric oxide synthase 2 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cell
associated with obesity; protein:increased expression:sputum
RGD PMID:18098375 PMID:18413499 RGD:4891909 RGD:4891935 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cells
DNA:polymorphism:exon: p. E298D (human)
associated with heart failure; protein:decreased expression:serum
protein:increased expression:endothelial cell
RGD PMID:16806535 PMID:18413499 PMID:18651156 PMID:20159829 RGD:4891909 RGD:4892051 RGD:4892052 RGD:4892059 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA, protein:increased expression:lymphoid tissue: RGD PMID:15611350 RGD:4892608 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332
JBrowse link
G SLC6A4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism, repeat:promoter, intron (human)
DNA:polymorphism:promoter (human)
RGD PMID:15867649 PMID:16215942 PMID:19014073 RGD:4889462 RGD:4889463 RGD:4889466 NCBI chr17:26,546,177...26,572,301
Ensembl chr17:27,050,900...27,092,882
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136
JBrowse link
G TNF tumor necrosis factor susceptibility ISO protein:increased expression:plasma
DNA:polymorphism:promoter: c.-308G>A (human)
RGD PMID:14633242 PMID:19022640 PMID:20846669 RGD:4142857 RGD:4143435 RGD:4143442 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
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
restless legs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTBD9 BTB domain containing 9 ISO CTD Direct Evidence: marker/mechanism
OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197
CTD
MouseDO
PMID:17637780 NCBI chr 6:37,733,575...38,211,857
Ensembl chr 6:38,928,879...39,358,424
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916
JBrowse link
G DRD3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
JBrowse link
G GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 ISO ClinVar Annotator: match by term: Restless legs ClinVar NCBI chr 3:95,059,408...95,108,224
Ensembl chr 3:101,743,832...101,792,080
JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:17637780 PMID:28604731 NCBI chr2A:66,494,934...66,633,295
Ensembl chr2A:67,615,941...67,752,958
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat)
CTD
RGD
PMID:18660810 PMID:36053904 PMID:37633178 RGD:401976430 RGD:401976457 NCBI chr 9:8,113,171...10,420,732
Ensembl chr 9:8,288,569...8,831,227
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr12:37,726,158...37,774,554
Ensembl chr12:38,629,686...38,677,377
JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:19913847 RGD:5686853 NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Sleep apnea syndrome ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 1:26,794,800...26,864,669 JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL6R interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G LEPR leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G TBP TATA-box binding protein ISO associated with Sudden Infant Death; protein:altered expression:brainstem (human) RGD PMID:14693397 RGD:5684350 NCBI chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909
JBrowse link
G TPH2 tryptophan hydroxylase 2 ISO RGD PMID:28775068 PMID:30763168 RGD:597830069 RGD:597830156 NCBI chr12:69,460,883...69,557,329
Ensembl chr12:72,318,908...72,412,557
JBrowse link
Sleep Deprivation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACE1 beta-secretase 1 ISO protein:increased expression:brain: RGD PMID:28455102 RGD:13782059 NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
JBrowse link
G CRH corticotropin releasing hormone ISO mRNA, protein:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CST3 cystatin C ISO RGD PMID:17027151 RGD:2306498 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
G CTSH cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795
JBrowse link
G DRD1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G JPH3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
JBrowse link
G NGB neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr14:57,818,491...57,824,196
Ensembl chr14:77,020,274...77,025,983
JBrowse link
G NPY neuropeptide Y ISO mRNA:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
JBrowse link
G NRGN neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chr11:119,566,934...119,574,248 JBrowse link
G POMC proopiomelanocortin ISO mRNA:decreased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
Sleep Initiation and Maintenance Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20532872 NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:20684606 RGD:401938599 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain severity ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr2A:66,494,934...66,633,295
Ensembl chr2A:67,615,941...67,752,958
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13588
        Neurologic Manifestations 10068
          sleep disorder 152
            Dyssomnias 128
              Intrinsic Sleep Disorders + 102
              Sleep Deprivation 19
              advanced sleep phase syndrome + 9
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13588
        central nervous system disease 12155
          brain disease 11419
            disease of mental health 8264
              sleep disorder 152
                Dyssomnias 128
                  Intrinsic Sleep Disorders + 102
                  Sleep Deprivation 19
                  advanced sleep phase syndrome + 9
paths to the root