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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.


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:snps:multiple (human)
DNA:snp:intron:c.760-430G>A (human) (rs807724)
DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228)
DNA:deletion, snps:introns:multiple (human)		 RGD PMID:22750057 PMID:27100778 PMID:20068590 PMID:19238550 PMID:25130614 RGD:12910971, RGD:11532935, RGD:12910973, RGD:12910975, RGD:12910976 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1		 CTD
ClinVar
OMIM		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:25186273 PMID:25741868 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		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 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683 		JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr16:19,301,969...19,328,436
Ensembl chr16:19,301,969...19,328,436 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		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 chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO
ISS		 OMIM:185070
ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS		 OMIM
MouseDO
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Neurodevelopmental Disorders 6940
        learning disability 213
          reading disorder 10
            dyslexia 9
              Stormorken syndrome 3
              alexia + 0
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            disease of mental health 8411
              developmental disorder of mental health 5640
                specific developmental disorder 4598
                  communication disorder 413
                    learning disability 213
                      reading disorder 10
                        dyslexia 9
                          Stormorken syndrome 3
                          alexia + 0
paths to the root