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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 reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. (DO)
Synonyms:exact_synonym: Developmental Dyslexia;   Developmental Reading Disability;   Developmental Reading Disorder;   developmental dyslexias;   developmental reading disabilities;   developmental reading disorders;   dyslexias;   word blindness;   word blindness, congenital
 narrow_synonym: specific reading disability, 1;   specific reading disability, 2
 broad_synonym: DNAAF4-RELATED CONDITION
 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: MIM:127700;   MIM:300509;   MIM:600202;   MIM:604254;   MIM:606616;   MIM:606896;   MIM:608995
 xref: EFO:0005424;   ICD10CM:F81.0;   NCI:C96410
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
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:snp:intron:c.760-430G>A (human) (rs807724)
DNA:snps:multiple (human)
DNA:deletion, snps:introns:multiple (human)
DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228)		 RGD PMID:19238550 PMID:20068590 PMID:22750057 PMID:25130614 PMID:27100778 RGD:11532935 RGD:12910971 RGD:12910973 RGD:12910975 RGD:12910976 NCBI chrNW_004955483:2,608,063...2,783,872
Ensembl chrNW_004955483:2,607,925...2,778,799 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 susceptibility ISO ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 ClinVar
OMIM		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:25186273 PMID:25741868 More... NCBI chrNW_004955409:498,450...523,067 JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:SNP: :rs12533005 (human)
DNA:SNPs: :multiple		 RGD PMID:21897444 RGD:11535997 NCBI chrNW_004955432:20,205,369...20,589,608
Ensembl chrNW_004955432:20,334,237...20,589,352 		JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chrNW_004955524:2,602,767...2,628,771
Ensembl chrNW_004955524:2,602,715...2,628,805 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chrNW_004955414:19,607,180...19,630,010
Ensembl chrNW_004955414:19,607,180...19,630,010 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chrNW_004955414:19,630,564...19,641,722
Ensembl chrNW_004955414:19,630,564...19,641,550 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS OMIM
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14333
    Developmental Disease 12607
      Neurodevelopmental Disorders 6302
        learning disability 178
          reading disorder 10
            dyslexia 9
              Stormorken syndrome 3
              alexia + 0
Path 2
Term Annotations click to browse term
  disease 14333
    disease of anatomical entity 14027
      nervous system disease 12344
        central nervous system disease 11065
          brain disease 10383
            disease of mental health 7455
              developmental disorder of mental health 5056
                specific developmental disorder 4181
                  communication disorder 378
                    learning disability 178
                      reading disorder 10
                        dyslexia 9
                          Stormorken syndrome 3
                          alexia + 0
paths to the root