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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:learning disability
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Accession:DOID:8927 term browser browse the term
Definition:Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These disorders may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA.
Synonyms:exact_synonym: Adult Learning Disorders;   Developmental Academic Disorder;   Developmental Academic Disorders;   Developmental Disorders of Scholastic Skills;   Learning Disabilities;   Learning Disorder;   Learning Disorders;   Learning Disturbance;   Learning Disturbances;   academic skill disorder;   adult learning disorder;   scholastic skills development disorders
 narrow_synonym: SPECIFIC LEARNING DISABILITY
 primary_id: MESH:D007859
 alt_id: RDO:0002319
 xref: ICD10CM:F81.9;   NCI:C89334
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
learning disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18533140 NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Specific learning disability ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Apod apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18419796 NCBI chr11:72,705,204...72,726,263
Ensembl chr11:72,705,129...72,726,301
JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16474004 PMID:18533140 PMID:20816828 PMID:22484447 PMID:25213453 PMID:26420483 PMID:27306655 PMID:29729307 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:17967740 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Cntnap2 contactin associated protein 2 ISO RGD PMID:26873041 RGD:13450914 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Dbn1 drebrin 1 ISO RGD PMID:19837137 RGD:10398819 NCBI chr17:9,679,511...9,693,878
Ensembl chr17:9,679,628...9,693,820
JBrowse link
G Elavl4 ELAV like RNA binding protein 4 IEP RGD PMID:23545166 RGD:9685325 NCBI chr 5:130,001,387...130,144,557
Ensembl chr 5:130,001,372...130,085,838
JBrowse link
G Ghr growth hormone receptor ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:prefrontal cortex: RGD PMID:22750159 RGD:11566045 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16495937 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11718997 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12591222 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21859099 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO associated with Incontinentia Pigmenti;DNA:deletion:exons: RGD PMID:24489960 RGD:12791267 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21290410 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO rat model treated with human protein
CTD Direct Evidence: therapeutic
CTD PMID:25665855, PMID:10751560 RGD:7175060 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 disease_progression ISO RGD PMID:9037082 RGD:7829733 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Specific learning disability ClinVar NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:25309793 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:22430071 PMID:24556215 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19921286 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr20:29,284,833...29,433,617
Ensembl chr20:29,284,853...29,432,258
JBrowse link
G Mir124-3 microRNA 124-3 ISO CTD Direct Evidence: therapeutic CTD PMID:28867212 NCBI chr 3:176,406,205...176,406,291
Ensembl chr 3:176,406,205...176,406,291
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16216453 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16216453 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21949590, PMID:11279521 RGD:1302541 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Ntf4 neurotrophin 4 ISO RGD PMID:10869436 RGD:737722 NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Specific learning disability ClinVar PMID:31997314 NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO RGD PMID:10541472 RGD:12790586 NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
JBrowse link
G Pde1b phosphodiesterase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12077213 NCBI chr 7:145,117,951...145,147,711
Ensembl chr 7:145,117,951...145,145,376
JBrowse link
G Pnoc prepronociceptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10401555 NCBI chr15:48,805,841...48,833,071
Ensembl chr15:48,805,228...48,833,285
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21987461 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12915482 NCBI chr 1:48,880,015...50,069,998 JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25213453 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15451042 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Slc17a6 solute carrier family 17 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21295146 NCBI chr 1:106,980,463...107,038,717
Ensembl chr 1:106,998,623...107,038,704
JBrowse link
G Slc17a7 solute carrier family 17 member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21295146 NCBI chr 1:101,161,265...101,172,292
Ensembl chr 1:101,161,252...101,173,174
JBrowse link
G Syp synaptophysin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21295146 NCBI chr  X:15,694,699...15,709,244
Ensembl chr  X:15,695,566...15,707,436
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 PMID:10984662 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29107071 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:8405091 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: therapeutic CTD PMID:20801723 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 NCBI chr10:67,531,989...67,551,237 JBrowse link
dyslexia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 susceptibility ISO DNA:snps:multiple (human)
DNA:deletion, snps:introns:multiple (human)
DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228)
DNA:snp:intron:c.760-430G>A (human) (rs807724)
RGD PMID:22750057, PMID:25130614, PMID:19238550, PMID:20068590, PMID:27100778 RGD:12910971, RGD:12910976, RGD:12910975, RGD:12910973, RGD:11532935 NCBI chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 susceptibility ISO ClinVar Annotator: match by term: WORD-BLINDNESS, CONGENITAL
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12954984 PMID:24033266 PMID:25741868 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chr 1:214,278,296...214,282,818
Ensembl chr 1:214,278,296...214,281,483
JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNP: :rs12533005 (human)
DNA:SNPs: :multiple
RGD PMID:21897444, PMID:21897444 RGD:11535997, RGD:11535997 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr16:21,050,243...21,076,707
Ensembl chr16:21,050,243...21,076,707
JBrowse link
G RGD1307443 similar to mKIAA0319 protein susceptibility ISO OMIM NCBI chr17:42,163,245...42,226,725
Ensembl chr17:42,165,817...42,226,377
JBrowse link
reading disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 susceptibility ISO DNA:SNPs: : RGD PMID:21165691 RGD:13450919 NCBI chr 4:74,700,539...77,025,463 JBrowse link
Riddle syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Riddle syndrome
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19203578 PMID:21394101 PMID:25741868 PMID:28492532 NCBI chr11:71,721,242...71,743,421
Ensembl chr11:71,721,250...71,743,421
JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:17576681 PMID:22190180 PMID:23332920 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28166811 PMID:28492532 PMID:28624464 PMID:29237733 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
JBrowse link
X-linked epilepsy with variable learning disabilities and behavior disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,369,534...1,391,603
Ensembl chr  X:1,379,194...1,390,873
JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,707,285...1,718,821
Ensembl chr  X:1,707,289...1,718,637
JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,885,927...2,038,639
Ensembl chr  X:1,885,927...1,952,111
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,754,869...1,786,973
Ensembl chr  X:1,754,861...1,786,978
JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,833,484...1,848,904
Ensembl chr  X:1,833,492...1,848,904
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders
ClinVar Annotator: match by OMIM:300491
OMIM
ClinVar
PMID:9536098 PMID:14985377 PMID:17576681 PMID:21441247 PMID:23406870 PMID:23871722 PMID:25741868 PMID:25741869 PMID:26467025 PMID:27884173 PMID:28492532 PMID:28973667 PMID:31969655 NCBI chr  X:1,321,315...1,379,202
Ensembl chr  X:1,321,315...1,379,198
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr  X:1,687,820...1,703,991
Ensembl chr  X:1,687,811...1,704,033
JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders ClinVar PMID:28492532 NCBI chr12:18,461,283...18,495,871
Ensembl chr12:18,464,781...18,487,178
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        learning disability 86
          Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 0
          Giacheti Syndrome 0
          Riddle syndrome 1
          Slavotinek Pike Mills Hurst Syndrome 0
          Specific Learning Disorder 0
          X-linked epilepsy with variable learning disabilities and behavior disorders 12
          chromosome 17q11.2 deletion syndrome 1
          distal 10q deletion syndrome 0
          dyscalculia 0
          reading disorder + 8
          writing disorder + 0
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
                  communication disorder 240
                    learning disability 86
                      Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 0
                      Giacheti Syndrome 0
                      Riddle syndrome 1
                      Slavotinek Pike Mills Hurst Syndrome 0
                      Specific Learning Disorder 0
                      X-linked epilepsy with variable learning disabilities and behavior disorders 12
                      chromosome 17q11.2 deletion syndrome 1
                      distal 10q deletion syndrome 0
                      dyscalculia 0
                      reading disorder + 8
                      writing disorder + 0
paths to the root