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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:Attention Deficit and Disruptive Behavior Disorders
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Accession:DOID:9009161 term browser browse the term
Definition:Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors.
Synonyms:exact_synonym: Disruptive Behavior Disorder
 primary_id: MESH:D019958
 alt_id: DOID:0050856
For additional species annotation, visit the Alliance of Genome Resources.


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Attention Deficit and Disruptive Behavior Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drd4 dopamine receptor D4 ISO CTD Direct Evidence: marker/mechanism
associated with Attention Deficit Disorder with Hyperactivity;DNA:snp:promoter:g.-521C>T (human)
CTD PMID:20731709, PMID:17572775 RGD:13210522 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25451971 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
attention deficit hyperactivity disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp1 acid phosphatase 1 ISO associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) RGD PMID:12231445 RGD:1358577 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Adgrl3 adhesion G protein-coupled receptor L3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22405201 NCBI chr14:28,362,176...29,226,085
Ensembl chr14:28,393,394...28,967,980
JBrowse link
G Adra2a adrenoceptor alpha 2A ISO DNA:polymorphism: :-1291C>G (human) RGD PMID:16178932, PMID:19150055 RGD:1559309, RGD:6480484 NCBI chr 1:274,766,283...274,769,083
Ensembl chr 1:274,766,283...274,769,081
JBrowse link
G Ar androgen receptor ISO associated with Tourette Syndrome;DNA:repeats, haplotypes RGD PMID:10380986 RGD:6907129 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G As3mt arsenite methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25461954 NCBI chr 1:266,482,787...266,514,570
Ensembl chr 1:266,482,858...266,514,569
JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO DNA:snps:introns:multiple (human) RGD PMID:24377651 RGD:11576297 NCBI chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:25061595 RGD:10059388 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Brinp1 BMP/retinoic acid inducible neural specific 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr 5:84,919,416...85,123,828
Ensembl chr 5:84,919,367...85,123,829
JBrowse link
G Caly calcyon neuron-specific vesicular protein ISO
IEP
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human)
CTD PMID:30753204, PMID:19690230, PMID:16172615 RGD:15092092, RGD:15092091 NCBI chr 1:212,537,851...212,549,040
Ensembl chr 1:212,537,848...212,549,477
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21748252 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21748252 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Cic capicua transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28288114 NCBI chr 1:82,135,440...82,163,007
Ensembl chr 1:82,151,669...82,163,005
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22034972 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Comt catechol-O-methyltransferase treatment
no_association
susceptibility
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.V158M(human)
DNA:polymorphism:cds:rs4680(p.V158M)(human)
CTD PMID:10490706, PMID:27121430, PMID:24035255, PMID:19946713 RGD:13451120, RGD:13450946, RGD:13450945 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Csmd2 CUB and Sushi multiple domains 2 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr 5:146,091,167...146,743,436
Ensembl chr 5:146,383,942...146,739,418
JBrowse link
G Csnk1d casein kinase 1, delta ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr 1:226,297,013...226,353,712
Ensembl chr 1:226,297,016...226,353,611
JBrowse link
G Dbh dopamine beta-hydroxylase ISO DNA:SNP:intron RGD PMID:12707943 RGD:1358584 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dcdc2 doublecortin domain containing 2 ISO DNA:snp:intron:c.923-1870T>C (human) (rs793862) RGD PMID:27501527 RGD:12910980 NCBI chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265
JBrowse link
G Dock3 dedicator of cyto-kinesis 3 ISO RGD PMID:14569117 RGD:1358592 NCBI chr 8:115,627,282...115,982,260
Ensembl chr 8:115,629,583...115,981,910
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17671965 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Drd4 dopamine receptor D4 treatment
no_association
severity
susceptibility
ISO
IEP
DNA:snp:promoter:g.-616C>G (human)
CTD Direct Evidence: marker/mechanism
DNA:duplication, snps, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human)
DNA:duplication:exon:g.2689_2737dup (human)
DNA:snp:promoter:g.-521G>A (human)
DNA:duplication:promoter:g.-1480_-1240dup (human)
mRNA:decreased expression:blood
mRNA, protein:decreased expression:frontal association cortex
DNA:repeats: :
CTD
OMIM
PMID:14699430 PMID:14699433 PMID:17671965 PMID:29054088, PMID:15389764, PMID:12960764, PMID:23083021, PMID:15389764, PMID:15909295, PMID:11449395, PMID:17679637, PMID:10898895, PMID:11431226, PMID:17171658, PMID:21906006, PMID:14699430, PMID:17395336, PMID:9118321 RGD:13210521, RGD:13210583, RGD:13210577, RGD:13210521, RGD:13210511, RGD:13210510, RGD:13210507, RGD:7248607, RGD:7248606, RGD:7248596, RGD:5686422, RGD:1358609, RGD:2311591, RGD:1358608 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Drd5 dopamine receptor D5 no_association ISO CTD Direct Evidence: marker/mechanism
DNA:repeat
CTD
OMIM
PMID:14699430 PMID:14732906, PMID:15389755, PMID:11032390, PMID:14699430 RGD:5686411, RGD:5686417, RGD:1358609 NCBI chr14:77,220,579...77,222,006
Ensembl chr14:77,220,579...77,222,006
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15809997 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNPs, haplotype: :rs1229761, rs12533005 (human)
DNA:SNPs: :multiple
RGD PMID:22504457, PMID:22504457 RGD:11535980, RGD:11535980 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Git1 GIT ArfGAP 1 ISO DNA:polymorphism:intron
CTD Direct Evidence: marker/mechanism
CTD PMID:21499268, PMID:21499268 RGD:11344918 NCBI chr10:62,656,000...62,664,467
Ensembl chr10:62,656,000...62,664,466
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IMP
IEP
mRNA:decreased expression:brain (rat) RGD PMID:18571865, PMID:22777493 RGD:13210768, RGD:13432033 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138692 NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19546859 PMID:22138692 NCBI chr 1:151,207,846...151,785,038
Ensembl chr 1:151,439,409...151,783,392
JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22138692 NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO DNA:deletion: :
CTD Direct Evidence: marker/mechanism
CTD PMID:22138692, PMID:22138692 RGD:6484664 NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO RGD PMID:12556913 RGD:1358660 NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
JBrowse link
G Lgals3 galectin 3 IEP protein:decreased expression:brain RGD PMID:20557304 RGD:9685226 NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
JBrowse link
G Malrd1 MAM and LDL receptor class A domain containing 1 ISO ClinVar Annotator: match by term: Attention deficit disorder ClinVar NCBI chr17:82,430,836...83,156,696
Ensembl chr17:82,430,836...82,953,864
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Attention deficit disorder ClinVar PMID:10767337 PMID:12384770 PMID:12566531 PMID:12872250 PMID:16763963 PMID:18414213 PMID:28492532 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mir96 microRNA 96 susceptibility ISO DNA:SNP,haplotype: :rs6965643,rs2402959(human) RGD PMID:23906647 RGD:11553930 NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:24633733 RGD:13204849 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:polymorphism: :1298A>C(human)
DNA:SNP: :1298A>C,677C>T(human)
RGD PMID:21897766, PMID:21819229 RGD:11565107, RGD:11565109 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 treatment IEP RGD PMID:25061595 RGD:10059388 NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Per1 period circadian regulator 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Plxdc2 plexin domain containing 2 ISO ClinVar Annotator: match by term: Attention deficit disorder ClinVar NCBI chr17:83,221,795...83,619,291
Ensembl chr17:83,221,827...83,610,272
JBrowse link
G Ptchd1 patched domain containing 1 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr  X:42,558,912...42,610,430
Ensembl chr  X:42,558,931...42,614,242
JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19546859 NCBI chr 5:92,862,229...93,514,071
Ensembl chr 5:92,862,267...93,244,202
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO with prenatal smoke exposure;DNA:repeat:3' utr: (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12699766 PMID:15059031 PMID:19120712 PMID:22034972, PMID:12915833 RGD:1358582 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Slc6a4 solute carrier family 6 member 4 severity ISO DNA:repeat:promoter: RGD PMID:27430630 RGD:36947879 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Snap25 synaptosome associated protein 25 ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18413370 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19204064 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Tbc1d9 TBC1 domain family member 9 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr19:24,328,381...24,429,908
Ensembl chr19:24,329,023...24,429,909
JBrowse link
G Thrb thyroid hormone receptor beta ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Thrsp thyroid hormone responsive ISS OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 MouseDO NCBI chr 1:162,381,251...162,385,575
Ensembl chr 1:162,381,253...162,385,575
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO DNA:polymorphisms: :-6526A>G, 218A>C (human)
DNA:missense mutations:exons:multiple
RGD PMID:16389593, PMID:20921119 RGD:1580457, RGD:5686345 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442
JBrowse link
G Tph2 tryptophan hydroxylase 2 susceptibility ISO ClinVar Annotator: match by OMIM:613003
ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15167691 PMID:16378243 PMID:17905754 PMID:18181017 PMID:18339632 PMID:18347598 PMID:18444257 PMID:19319927 PMID:19588223 PMID:22915309 PMID:28492532 NCBI chr 7:58,042,279...58,149,220
Ensembl chr 7:58,042,281...58,149,061
JBrowse link
G Vegfa vascular endothelial growth factor A IEP RGD PMID:15178644 RGD:1580558 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr19:26,188,644...26,194,193
Ensembl chr19:26,188,638...26,194,198
JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Attention deficit hyperactivity disorder ClinVar PMID:28332277 NCBI chr19:26,194,336...26,195,837
Ensembl chr19:26,194,465...26,195,837
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Catifa syndrome ClinVar PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:247,784,830...247,821,771
Ensembl chr 1:247,787,582...247,821,728
JBrowse link
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 1:247,688,778...247,784,219
Ensembl chr 1:247,688,789...247,781,875
JBrowse link
conduct disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp1 acid phosphatase 1 ISO associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) RGD PMID:12231445 RGD:1358577 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Ar androgen receptor ISO associated with Tourette Syndrome;DNA:repeats, haplotypes RGD PMID:10380986 RGD:6907129 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:17587443 RGD:13210585 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Htr1b 5-hydroxytryptamine receptor 1B ISO associated with Alcoholism RGD PMID:14714219 RGD:1358661 NCBI chr 8:89,113,984...89,130,830
Ensembl chr 8:89,129,453...89,130,991
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO ClinVar Annotator: match by term: Behavior disorder ClinVar PMID:12869649 PMID:14593431 PMID:15995945 PMID:18792946 PMID:18957375 PMID:19360675 PMID:19806148 PMID:28492532 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
JBrowse link
oppositional defiant disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO associated with Tourette Syndrome;DNA:repeats, haplotypes RGD PMID:10380986 RGD:6907129 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Attention Deficit and Disruptive Behavior Disorders 63
          attention deficit hyperactivity disorder + 62
          conduct disorder 5
          oppositional defiant disorder 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  Attention Deficit and Disruptive Behavior Disorders 63
                    attention deficit hyperactivity disorder + 62
                    conduct disorder 5
                    oppositional defiant disorder 1
paths to the root