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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:Rett syndrome
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Accession:DOID:1206 term browser browse the term
Definition:A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)
Synonyms:exact_synonym: RTS;   RTT;   Rett disorder;   Rett's disorder;   Rett's syndrome;   Retts syndrome;   autism, dementia, ataxia, and loss of purposeful hand use;   autism, dementia, ataxia, loss of purposeful hand use syndrome;   cerebroatrophic hyperammonemia;   cerebroatrophic hyperammonemias
 primary_id: MESH:D015518
 alt_id: OMIM:312750
 xref: EFO:0001079;   GARD:5696;   ICD10CM:F84.2;   MONDO:0010726;   NCI:C75488
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Rett syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:18710461 RGD:5686812 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:16015284 PMID:18414213 PMID:19241098 PMID:19396824 PMID:25657822 More... NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:16917026 PMID:18161030 PMID:18626973 PMID:21850686 PMID:22661499 More... NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318 		JBrowse link
G EGR2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19000991 NCBI chr 4:14,705,384...14,810,130
Ensembl chr 4:14,706,600...14,709,497 		JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 NCBI chr 8:8,276,300...8,279,785 JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28856709 More... NCBI chr11:55,469,327...55,817,930
Ensembl chr11:55,470,197...55,817,945 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:15712379 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:increased expression:locus ceruleus RGD PMID:21307341 RGD:8662896 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G MAP2 microtubule associated protein 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:25741868 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder OMIM
ClinVar		 PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G MIR199-2 microRNA mir-199-2 ISO OMIM:312750 | OMIM:613454 MouseDO NCBI chr 7:26,812,766...26,812,824
Ensembl chr 7:26,812,735...26,812,838 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214522 NCBI chr24:36,936,469...37,010,929
Ensembl chr24:36,936,298...37,003,720 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Rett syndrome ClinVar PMID:18298893 PMID:25741868 PMID:28492532 PMID:29276004 PMID:29768694 More... NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO RGD PMID:20869373 RGD:9590158 NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551 		JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,996,196...15,131,338
Ensembl chr  X:14,994,625...15,131,844 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr33:18,038,143...18,103,649
Ensembl chr33:18,038,801...18,101,435 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,844,064...15,903,535
Ensembl chr  X:15,845,098...15,903,806 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:14,263,152...14,324,882
Ensembl chr  X:14,265,296...14,333,751 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity ISO ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
DNA:mutations:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 More... RGD:12791015 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:16,081,335...16,102,627
Ensembl chr  X:16,081,392...16,099,142 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,353,081...15,465,862
Ensembl chr  X:15,353,081...15,465,992 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,916,609...15,972,552
Ensembl chr  X:15,917,978...15,971,000 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:13,487,919...13,834,869
Ensembl chr  X:13,488,515...13,831,386 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,338,364...15,354,011
Ensembl chr  X:15,338,202...15,387,458 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,911,511...14,989,923
Ensembl chr  X:14,896,206...14,989,283 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:14,752,768...14,876,297
Ensembl chr  X:14,760,452...14,875,997 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:13,871,795...14,021,908 JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,991,623...16,079,689
Ensembl chr  X:15,998,172...16,074,749 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar PMID:9536098 PMID:10533068 PMID:15499549 PMID:16813600 PMID:17304053 More... NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:13,836,054...13,850,151 JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:14,334,769...14,436,614
Ensembl chr  X:14,335,013...14,437,176 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:15,482,593...15,818,113
Ensembl chr  X:15,484,680...15,817,967 		JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr24:12,003,005...12,081,385
Ensembl chr24:12,004,117...12,081,329 		JBrowse link
Rett Syndrome, Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 More... NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233 		JBrowse link
G GPHN gephyrin ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:25741868 PMID:33073849 NCBI chr 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:10508514 PMID:10854091 PMID:11035019 PMID:11055898 PMID:11269512 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G PALS1 protein associated with LIN7 1, MAGUK p55 family member ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:25741868 PMID:33073849 NCBI chr 8:41,230,230...41,330,017
Ensembl chr 8:41,275,947...41,327,348 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Atypical Rett syndrome ClinVar PMID:19428276 PMID:28492532 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492 		JBrowse link
Rett Syndrome, Congenital Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Rett syndrome, congenital variant
ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: FOXG1-related condition | ClinVar Annotator: match by term: Rett syndrome, congenital variant		 OMIM
ClinVar		 PMID:18414213 PMID:18571142 PMID:19564653 PMID:19578037 PMID:19623215 More... NCBI chr 8:8,276,300...8,279,785 JBrowse link
Rett Syndrome, Zappella Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Rett syndrome, zappella variant ClinVar PMID:1191367 PMID:4413922 PMID:10508514 PMID:10577905 PMID:10745042 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Rett syndrome 34
        Rett Syndrome, Atypical 5
        Rett Syndrome, Congenital Variant 1
        Rett Syndrome, Preserved Speech Variant 0
        Rett Syndrome, Zappella Variant 1
        developmental and epileptic encephalopathy 2 19
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              developmental disorder of mental health 5495
                specific developmental disorder 4468
                  intellectual disability 4275
                    X-Linked Intellectual Developmental Disorders 805
                      Rett syndrome 34
                        Rett Syndrome, Atypical 5
                        Rett Syndrome, Congenital Variant 1
                        Rett Syndrome, Preserved Speech Variant 0
                        Rett Syndrome, Zappella Variant 1
                        developmental and epileptic encephalopathy 2 19
paths to the root