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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:dyslexia
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Accession:DOID:4428 term browser browse the term
Definition:A cognitive disorder characterized by an impaired ability to comprehend written and printed words or phrases despite intact vision. This condition may be developmental or acquired. Developmental dyslexia is marked by reading achievement that falls substantially below that expected given the individual's chronological age, measured intelligence, and age-appropriate education. The disturbance in reading significantly interferes with academic achievement or with activities of daily living that require reading skills. (From DSM-IV)
Synonyms:exact_synonym: Developmental Dyslexia;   Developmental Reading Disability;   Developmental Reading Disorder;   Developmental Reading Disorders;   Dyslexias;   developmental dyslexias;   developmental reading disabilities;   word blindness;   word blindness, congenital
 narrow_synonym: specific reading disability, 1;   specific reading disability, 2
 related_synonym: DYX1;   DYX2;   DYX3;   DYX4;   DYX5;   DYX6;   DYX7;   DYX8;   DYX9;   dyslexia, susceptibility to, 1;   dyslexia, susceptibility to, 2;   dyslexia, susceptibility to, 3;   dyslexia, susceptibility to, 4;   dyslexia, susceptibility to, 5;   dyslexia, susceptibility to, 6;   dyslexia, susceptibility to, 7;   dyslexia, susceptibility to, 8;   dyslexia, susceptibility to, 9
 primary_id: MESH:D004410
 alt_id: OMIM:127700;   OMIM:300509;   OMIM:600202;   OMIM:604254;   OMIM:606616;   OMIM:606896;   OMIM:608995
 xref: ICD10CM:F81.0;   NCI:C96410
For additional species annotation, visit the Alliance of Genome Resources.


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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
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:23851458 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Neurodevelopmental Disorders 5597
        learning disability 86
          reading disorder 8
            dyslexia 7
              Stormorken syndrome 1
              alexia + 0
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        central nervous system disease 10253
          brain disease 9616
            disease of mental health 6957
              developmental disorder of mental health 4288
                specific developmental disorder 3547
                  communication disorder 242
                    learning disability 86
                      reading disorder 8
                        dyslexia 7
                          Stormorken syndrome 1
                          alexia + 0
paths to the root