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ONTOLOGY REPORT - ANNOTATIONS


Term:Rett syndrome
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Accession:DOID:1206 term browser browse the term
Definition:An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Synonyms:exact_synonym: Cerebroatrophic Hyperammonemias;   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
 narrow_synonym: RETT SYNDROME, ATYPICAL;   RETT SYNDROME, PRESERVED SPEECH VARIANT;   RETT SYNDROME, ZAPPELLA VARIANT
 primary_id: MESH:D015518
 alt_id: OMIM:312750;   RDO:0000210
 xref: GARD:5696
For additional species annotation, visit the Alliance of Genome Resources.


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Rett syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686812
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:11554173
RGD:11070543
RGD:8554872
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:11554173
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:13592920
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8662896
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:1601319
RGD:8554872
RGD:11554173
RGD:12790974
RGD:12743654
RGD:7240710
RGD:1601318
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 JBrowse link 3 164,665,462 164,711,936 RGD:11554173
G Rhobtb2 Rho-related BTB domain containing 2 JBrowse link 15 51,465,148 51,485,562 RGD:8554872
G Setdb1 SET domain, bifurcated 1 JBrowse link 2 196,495,867 196,527,412 RGD:9590158
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
Rett Syndrome, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
Rett Syndrome, Congenital Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:7240710
RGD:8554872
Rett Syndrome, Zappella Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Rett syndrome 17
        Rett Syndrome, Atypical 3
        Rett Syndrome, Congenital Variant 1
        Rett Syndrome, Preserved Speech Variant 0
        Rett Syndrome, Zappella Variant 1
        early infantile epileptic encephalopathy 2 7
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Rett syndrome 17
                          Rett Syndrome, Atypical 3
                          Rett Syndrome, Congenital Variant 1
                          Rett Syndrome, Preserved Speech Variant 0
                          Rett Syndrome, Zappella Variant 1
                          early infantile epileptic encephalopathy 2 7
paths to the root