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: attention deficit hyperactivity disorder
Accession: DOID:1094
browse the term
Definition: A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. (DO)
Synonyms: exact_synonym: ADDH; ADHD; Attention Deficit Disorder with Hyperactivity; Attention Deficit Disorders with Hyperactivity; attention deficit disorder; attention deficit disorders; attention deficit hyperactivity disorders; hyperactivity of childhood; hyperkinetic disorder; hyperkinetic syndrome; minimal brain dysfunction
narrow_synonym: hyperactivity disorder; tryptophan 5-monooxygenase deficiency
related_synonym: ADHD1; ADHD2; ADHD3; ADHD4; ADHD5; ADHD6; attention deficit-hyperactivity disorder, susceptibility to, 1; attention deficit-hyperactivity disorder, susceptibility to, 2; attention deficit-hyperactivity disorder, susceptibility to, 3; attention deficit-hyperactivity disorder, susceptibility to, 4; attention deficit-hyperactivity disorder, susceptibility to, 5; attention deficit-hyperactivity disorder, susceptibility to, 6
primary_id: MESH:D001289
alt_id: OMIM:143465 ; OMIM:608903 ; OMIM:608904 ; OMIM:608905 ; OMIM:608906 ; OMIM:612311 ; OMIM:612312
xref: EFO:0003888 ; NCI:C35092 ; NCI:C97160
For additional species annotation, visit the
Alliance of Genome Resources .
G
ACP1
acid phosphatase 1
ISO
associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human)
RGD
PMID:12231445
RGD:1358577
NCBI chr 3:132,671,408...132,684,793
Ensembl chr 3:132,667,045...132,684,674
G
ADGRL3
adhesion G protein-coupled receptor L3
ISO
CTD Direct Evidence: marker/mechanism OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
CTD MouseDO
PMID:22405201
NCBI chr 8:59,988,280...60,800,177
Ensembl chr 8:60,630,117...60,792,899
G
ADRA2A
adrenoceptor alpha 2A
ISO
DNA:polymorphism: :-1291C>G (human)
RGD
PMID:16178932 PMID:19150055
RGD:1559309 RGD:6480484
NCBI chr14:121,469,572...121,470,924
Ensembl chr14:121,469,527...121,470,924
G
AR
androgen receptor
ISO
associated with Tourette Syndrome;DNA:repeats, haplotypes
RGD
PMID:10380986
RGD:6907129
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
G
AS3MT
arsenite methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25461954
NCBI chr14:113,844,107...113,867,880
Ensembl chr14:113,847,859...113,869,507
G
BAIAP2
BAR/IMD domain containing adaptor protein 2
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:19733838 PMID:24377651 PMID:27217152
NCBI chr12:1,609,420...1,666,965
Ensembl chr12:1,603,540...1,670,075
G
BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:25061595
RGD:10059388
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
BRINP1
BMP/retinoic acid inducible neural specific 1
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
MouseDO
NCBI chr 1:259,350,359...259,544,604
Ensembl chr 1:259,350,367...259,544,576
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:25741868
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
G
CALY
calcyon neuron specific vesicular protein
ISO
DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16172615 PMID:19690230 PMID:30753204
RGD:15092091 RGD:15092092
NCBI chr14:141,307,092...141,316,460
Ensembl chr14:141,307,684...141,316,292
G
CDH2
cadherin 2
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312
MouseDO
NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
G
CDK5R1
cyclin dependent kinase 5 regulatory subunit 1
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
MouseDO
NCBI chr12:42,456,063...42,494,494
Ensembl chr12:42,493,392...42,494,413
G
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21748252
NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728
G
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
RGD
PMID:14970827
RGD:151708703
NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
G
CHRNB2
cholinergic receptor nicotinic beta 2 subunit
ISO
CTD Direct Evidence: marker/mechanism OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
CTD MouseDO
PMID:21748252
NCBI chr 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037
G
CIC
capicua transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28288114
NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947
G
CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22034972
NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602
G
COMT
catechol-O-methyltransferase
no_association treatment susceptibility
ISO
DNA:polymorphism:cds:p.V158M(human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:rs4680(p.V158M)(human)
RGD CTD
PMID:10490706 PMID:19946713 PMID:24035255 PMID:27121430
RGD:13450945 RGD:13450946 RGD:13451120
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
G
CRY1
cryptochrome circadian regulator 1
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:28388406 PMID:32538895
NCBI chr 5:13,275,265...13,429,566
Ensembl chr 5:13,275,545...13,364,593
G
CSMD2
CUB and Sushi multiple domains 2
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:28332277
NCBI chr 6:89,778,338...90,424,979
G
CSNK1D
casein kinase 1 delta
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312
MouseDO
NCBI chr12:768,856...794,495
Ensembl chr12:768,865...796,595
G
DAGLA
diacylglycerol lipase alpha
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:28332277
NCBI chr 2:9,802,011...9,863,808
Ensembl chr 2:9,802,012...9,863,865
G
DBH
dopamine beta-hydroxylase
ISO
DNA:SNP:intron
RGD
PMID:12707943
RGD:1358584
NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552
G
DCDC2
doublecortin domain containing 2
ISO
DNA:snp:intron:c.923-1870T>C (human) (rs793862)
RGD
PMID:27501527
RGD:12910980
NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075
G
DEAF1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542
G
DOCK3
dedicator of cytokinesis 3
ISO
RGD
PMID:14569117
RGD:1358592
NCBI chr13:33,152,138...33,657,133
Ensembl chr13:33,152,428...33,657,131
G
DRD2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17671965
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
G
DRD4
dopamine receptor D4
susceptibility treatment severity no_association
ISO
ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD DNA:repeats: : DNA:duplication:exon:g.2689_2737dup (human) DNA:snp:promoter:g.-521G>A (human) DNA:duplication:promoter:g.-1480_-1240dup (human)
OMIM ClinVar RGD
PMID:9118321 PMID:10654656 PMID:10898895 PMID:11449395 PMID:15389764 PMID:15909295 PMID:17679637 PMID:20644990 PMID:23083021 PMID:25262643 PMID:25741868 PMID:29781347 PMID:30099719 PMID:36211978 More...
RGD:13210507 RGD:13210510 RGD:13210511 RGD:13210521 RGD:13210577 RGD:1358608 RGD:7248607
NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
G
DRD5
dopamine receptor D5
no_association susceptibility
ISO
ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD
RGD ClinVar OMIM
PMID:10208453 PMID:14732906 PMID:15389755 PMID:18081165 PMID:27480019
RGD:5686411
NCBI chr 8:6,180,221...6,182,575
Ensembl chr 8:6,180,221...6,181,636
G
FERRY3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:25558065 PMID:27311568
NCBI chr 5:65,896,750...65,944,183
Ensembl chr 5:65,897,537...65,944,179
G
FGD1
FYVE, RhoGEF and PH domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15809997
NCBI chr X:47,191,838...47,231,656
Ensembl chr X:47,192,427...47,231,342
G
FOXP2
forkhead box P2
no_association
ISO
DNA:SNPs, haplotype: :rs1229761, rs12533005 (human) DNA:SNPs: :multiple
RGD
PMID:22504457
RGD:11535980
NCBI chr18:31,335,102...31,890,523
Ensembl chr18:31,335,264...31,888,845
G
GIT1
GIT ArfGAP 1
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:intron OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
CTD RGD MouseDO
PMID:21499268
RGD:11344918
NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:18571865 PMID:22777493
RGD:13210768 RGD:13432033
NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
G
GRM1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22138692
NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
G
GRM5
glutamate metabotropic receptor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19546859 PMID:22138692
NCBI chr 9:21,914,422...22,438,200
Ensembl chr 9:21,917,735...22,436,063
G
GRM7
glutamate metabotropic receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22138692
NCBI chr13:63,318,002...64,203,982
Ensembl chr13:63,318,171...64,203,173
G
GRM8
glutamate metabotropic receptor 8
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion: :
CTD RGD
PMID:22138692
RGD:6484664
NCBI chr18:20,945,049...21,756,952
Ensembl chr18:20,951,003...21,758,568
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
DNA:SNP:CDS:mutiple (human)
RGD
PMID:35642741
RGD:401854249
NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957
G
HTR1B
5-hydroxytryptamine receptor 1B
ISO
RGD
PMID:12556913
RGD:1358660
NCBI chr 1:88,597,510...88,598,682
Ensembl chr 1:88,596,237...88,601,757
G
LGALS3
galectin 3
ISO
protein:decreased expression:brain
RGD
PMID:20557304
RGD:9685226
NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
G
MALRD1
MAM and LDL receptor class A domain containing 1
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
NCBI chr10:54,782,806...55,381,043
Ensembl chr10:54,785,314...55,380,957
G
MECP2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:10767337 PMID:12384770 PMID:12566531 PMID:12872250 PMID:16763963 PMID:18414213 PMID:25741868 PMID:28492532 PMID:34837432 More...
NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
G
MIR96
microRNA mir-96
susceptibility
ISO
DNA:SNP,haplotype: :rs6965643,rs2402959(human)
RGD
PMID:23906647
RGD:11553930
NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
G
MMP9
matrix metallopeptidase 9
severity
ISO
RGD
PMID:24633733
RGD:13204849
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
MTHFR
methylenetetrahydrofolate reductase
no_association susceptibility
ISO
DNA:SNP: :1298A>C,677C>T(human) DNA:polymorphism: :1298A>C(human)
RGD
PMID:21819229 PMID:21897766
RGD:11565107 RGD:11565109
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
G
NTRK2
neurotrophic receptor tyrosine kinase 2
treatment
ISO
RGD
PMID:25061595
RGD:10059388
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
G
PER1
period circadian regulator 1
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
MouseDO
NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248
G
PLXDC2
plexin domain containing 2
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
NCBI chr10:54,260,300...54,677,233
Ensembl chr10:54,268,471...54,675,927
G
PTCHD1
patched domain containing 1
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
MouseDO
NCBI chr X:19,508,501...19,563,298
Ensembl chr X:19,507,739...19,561,828
G
PTPRD
protein tyrosine phosphatase receptor type D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19546859
NCBI chr 1:211,832,409...214,013,013
Ensembl chr 1:213,483,348...214,009,893
G
QARS1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:28332277
NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
G
RFX3
regulatory factor X3
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:25741868
NCBI chr 1:218,340,427...218,647,389
Ensembl chr 1:218,360,718...218,640,923
G
SLC2A9
solute carrier family 2 member 9
ISO
ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD
ClinVar
PMID:10208453 PMID:14732906 PMID:18081165 PMID:27480019
NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
G
SLC6A3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 with prenatal smoke exposure;DNA:repeat:3' utr: (human)
CTD MouseDO RGD
PMID:12699766 PMID:12915833 PMID:15059031 PMID:19120712 PMID:22034972
RGD:1358582
NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297
G
SLC6A4
solute carrier family 6 member 4
severity
ISO
DNA:repeat:promoter:
RGD
PMID:27430630
RGD:36947879
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
G
SNAP25
synaptosome associated protein 25
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
MouseDO
NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576
G
STS
steroid sulfatase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18413370
NCBI chr X:3,926,027...4,076,900 NCBI chr Y:2,747,102...2,828,322
G
TACR1
tachykinin receptor 1
ISO
CTD Direct Evidence: marker/mechanism OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
CTD MouseDO
PMID:19204064
NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724
G
TBC1D9
TBC1 domain family member 9
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:28332277
NCBI chr 8:86,402,745...86,518,182
Ensembl chr 8:86,402,839...86,517,764
G
THRB
thyroid hormone receptor beta
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003
MouseDO
NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,724...11,359,544
G
THRSP
thyroid hormone responsive
ISO
OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312
MouseDO
NCBI chr 9:12,479,913...12,484,323
Ensembl chr 9:12,479,907...12,488,557
G
TPH1
tryptophan hydroxylase 1
ISO
DNA:missense mutations:exons:multiple DNA:polymorphisms: :-6526A>G, 218A>C (human)
RGD
PMID:16389593 PMID:20921119
RGD:1580457 RGD:5686345
NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437
G
TPH2
tryptophan hydroxylase 2
ISO
ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency
ClinVar
PMID:15167691 PMID:16378243 PMID:17905754 PMID:18181017 PMID:18339632 PMID:18347598 PMID:18444257 PMID:19319927 PMID:19588223 PMID:22915309 PMID:25741868 PMID:28492532 More...
NCBI chr 5:35,917,159...36,016,981
Ensembl chr 5:35,918,370...36,017,509
G
UST
uronyl 2-sulfotransferase
ISO
DNA:SNP:CDS:mutiple (human)
RGD
PMID:35642741
RGD:401854249
NCBI chr 1:16,840,422...17,138,088
Ensembl chr 1:16,840,533...17,138,392
G
VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:15178644
RGD:1580558
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
WDR83
WD repeat domain 83
ISO
ClinVar Annotator: match by term: Attention deficit hyperactivity disorder
ClinVar
PMID:28332277
NCBI chr 2:66,307,652...66,312,839
Ensembl chr 2:66,307,653...66,312,844
G
TPH2
tryptophan hydroxylase 2
susceptibility
ISO
ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder, susceptibility to, 7
OMIM ClinVar
PMID:19319927 PMID:25741868
NCBI chr 5:35,917,159...36,016,981
Ensembl chr 5:35,918,370...36,017,509
G
CDH2
cadherin 2
ISO
ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder 8
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
G
RIC1
RIC1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Catifa syndrome
OMIM ClinVar
PMID:25741868 PMID:27878435 PMID:31932796
NCBI chr 1:216,382,179...216,494,815
Ensembl chr 1:216,382,128...216,494,793
G
GNB5
G protein subunit beta 5
ISO
ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
OMIM ClinVar
PMID:25741868 PMID:27523599 PMID:27677260 PMID:29368331 PMID:30631341 PMID:31130284 PMID:33176815 More...
NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,537,551...119,589,865
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all