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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 chr17:40,274,009...40,459,757
Ensembl chr17:40,274,009...40,458,790 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 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 8:82,577,044...82,601,653
Ensembl chr 8:82,578,755...82,592,205 		JBrowse link
G Drd4 dopamine receptor D4 ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:14755455 RGD:13209014 NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:205,826,049...205,830,458 		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 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
G Ncan neurocan ISO ClinVar Annotator: match by term: Developmental dyslexia ClinVar PMID:28839234 NCBI chr16:19,335,907...19,362,371
Ensembl chr16:19,335,907...19,362,371 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35940320 NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:31,537,990...31,578,962 		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 1:166,003,593...166,030,088
Ensembl chr 1:166,003,523...166,030,088 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Stormorken syndrome ClinVar PMID:28492532 NCBI chr 1:166,030,685...166,046,254
Ensembl chr 1:166,017,427...166,044,787 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO
ISS 		ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
OMIM:185070 		OMIM
ClinVar
MouseDO		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:166,067,962...166,233,108 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        learning disability 217
          reading disorder 10
            dyslexia 9
              Stormorken syndrome 3
              alexia + 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  communication disorder 433
                    learning disability 217
                      reading disorder 10
                        dyslexia 9
                          Stormorken syndrome 3
                          alexia + 0
paths to the root